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367591000119105: Hereditary nephropathy (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2015. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3012593013 Hereditary nephropathy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3012627014 Hereditary nephropathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3881056012 Inherited renal disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3881057015 Hereditary disorder of kidney en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5632901000241118 néphropathie héréditaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

171 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary nephropathy (disorder) Is a Kidney disease true Inferred relationship Some
Hereditary nephropathy (disorder) Is a Hereditary disorder of the urinary system true Inferred relationship Some
Hereditary nephropathy (disorder) Finding site Kidney structure true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Dent's disease (disorder) Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Fabry's disease Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Primary hyperoxaluria (disorder) Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Renal phosphaturia Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Hereditary diffuse crescentic glomerulonephritis Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Hereditary tubulointerstitial disorder Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Melnick-Fraser syndrome Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Dysmorphic sialidosis with renal involvement Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Familial renal iminoglycinuria Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Glycogenosis with glucoaminophosphaturia Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Familial hypokalemic alkalosis, Gullner type Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Infantile nephropathic cystinosis Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Epilepsy, ataxia, sensorineural deafness, and tubulopathy syndrome Is a False Hereditary nephropathy (disorder) Inferred relationship Some
Lipoprotein glomerulopathy (disorder) Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Familial arthrogryposis-cholestatic hepatorenal syndrome Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Hereditary nephritis (disorder) Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Renal carnitine transport defect Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Nephroblastoma Is a False Hereditary nephropathy (disorder) Inferred relationship Some
Congenital nephrotic syndrome Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Renal tubular dysgenesis (disorder) Is a False Hereditary nephropathy (disorder) Inferred relationship Some
diabète insipide néphrogénique héréditaire Is a False Hereditary nephropathy (disorder) Inferred relationship Some
Familial amyloid nephropathy with urticaria AND deafness Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Autosomal dominant progressive nephropathy with hypertension (disorder) Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Enamel-renal syndrome Is a True Hereditary nephropathy (disorder) Inferred relationship Some
A rare familial renal cancer syndrome characterized by a predisposition for developing bilateral and multifocal classic type papillary renal cell carcinomas (formerly known as type 1 papillary renal cell carcinoma until the 2022 WHO classification of renal tumors). Is a False Hereditary nephropathy (disorder) Inferred relationship Some
Fibulo-ulnar hypoplasia-renal anomalies syndrome is characterized by fibulo-ulnar dysostosis with renal anomalies. It has been described in two siblings born to non-consanguinous parents. The syndrome is lethal at birth (respiratory failure). Clinical manifestations include ear and facial anomalies (including micrognathia), symmetrical shortness of long bones, fibular agenesis and hypoplastic ulna, oligosyndactyly, congenital heart defects, and cystic or hypoplastic kidney. It is transmitted as an autosomal recessive trait. Is a True Hereditary nephropathy (disorder) Inferred relationship Some
An extremely rare inherited tumor syndrome within the familial nonmedullary thyroid cancer group. Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy. Is a True Hereditary nephropathy (disorder) Inferred relationship Some
A rare, hereditary nephrotic syndrome characterized by proteinuria, hypoalbuminemia, edema, and hyperlipidemia, with an absence of response to an initial trial of corticosteroids (i.e. steroid-resistant nephrotic syndrome; SRNS) and a generally complicated course. Is a True Hereditary nephropathy (disorder) Inferred relationship Some
A rare renal disease characterized by hypokalemic metabolic alkalosis secondary to a tubulopathy, hypomagnesemia with hypermagnesuria, severe hypercalciuria and dilated cardiomyopathy. Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Ulbright-Hodes syndrome is characterized by renal dysplasia, growth retardation, phocomelia or mesomelia, radiohumeral fusion, rib abnormalities, anomalies of the external genitalia and a Potter-like facies. The syndrome has been described in three infants (one pair of siblings and an unrelated case), all of whom died shortly after birth from respiratory distress resulting from pulmonary hypoplasia and oligohydramnios caused by renal dysplasia. The mode of transmission appears to be autosomal recessive. Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Bartter syndrome type 4a (disorder) Is a False Hereditary nephropathy (disorder) Inferred relationship Some
A rare multiple congenital anomalies syndrome characterized by limb deficiencies and renal anomalies that include split hand-split foot malformation, renal agenesis, polycystic kidneys, uterine anomalies and severe mandibular hypoplasia. An autosomal recessive mode of inheritance has been suggested. Is a True Hereditary nephropathy (disorder) Inferred relationship Some
A rare syndrome of multiple congenital anomalies characterized by radial ray malformations, renal abnormalities (mild malrotation, ectopia, horseshoe kidney, renal hypoplasia, vesico-ureteral reflux, bladder diverticula), and ophthalmological abnormalities (mainly colobomas, but also microphthalmia, ptosis, and Duane anomaly). The phenotype overlaps with other SALL4-related disorders including Okihiro syndrome and Holt-Oram syndrome. Is a True Hereditary nephropathy (disorder) Inferred relationship Some
A spectrum of congenital malformative disorders characterized by the co-occurrence of distal limb anomalies (usually bilateral cleft feet and/or hands) and renal defects (e.g. unilateral or bilateral agenesis), that can be associated with a variety of other anomalies such as those of genitourinary tract (genital anomalies, ureteral hypoplasias, vesicoureteral reflux), abdominal well defects, intestinal atresias, and lung malformations. Familial cases have been reported in which an autosomal recessive inheritance was suspected. Is a True Hereditary nephropathy (disorder) Inferred relationship Some
A rare, severe, circulatory system disease characterized by premature, diffuse, severe atherosclerosis (including the aorta and renal, coronary, and cerebral arteries), sensorineural deafness, diabetes mellitus, progressive neurological deterioration with cerebellar symptoms and photomyoclonic seizures, and progressive nephropathy. Partial deficiency of mitochondrial complexes III and IV in the kidney and fibroblasts (but not in muscle) may be associated. There have been no further descriptions in the literature since 1994. Is a True Hereditary nephropathy (disorder) Inferred relationship Some
A rare autosomal dominant tubulointerstitial kidney disease (ADTKD) of childhood due to REN mutations and characterized by early onset hypoproliferative anemia, hyperuricemia, gout, and slowly progressive tubulointerstitial kidney disease. Is a True Hereditary nephropathy (disorder) Inferred relationship Some
A rare subtype of Joubert syndrome (JS) and related disorders (JSRD) characterised by the neurological features of JS associated with both renal and ocular disease. Is a False Hereditary nephropathy (disorder) Inferred relationship Some
A rare genetic disease characterized by the presence of Müllerian duct derivatives (rudimentary uterus, fallopian tubes, and atretic vagina) and other genital anomalies (cryptorchidism, micropenis) in male newborns, intestinal and pulmonary lymphangiectasia, protein-losing enteropathy, hepatomegaly, and renal anomalies. Postaxial polydactyly, facial dysmorphism (including broad nasal bridge, bulbous nasal tip, long and prominent upper lip with smooth philtrum, hypertrophic alveolar ridges, and mild retrognathia, among other features), and short limbs have also been described. The syndrome is fatal in infancy. Is a True Hereditary nephropathy (disorder) Inferred relationship Some
A rare hereditary motor and sensory neuropathy disorder characterized by the typical CMT phenotype (slowly progressive distal muscle weakness and atrophy in upper and lower limbs, distal sensory loss in extremities, reduced or absent deep tendon reflexes and foot deformities) associated with focal segmental glomerulosclerosis (manifesting with proteinuria and progression to end-stage renal disease). Mild or moderate sensorineural hearing loss may also be associated. Nerve biopsy reveals both axonal and demyelinating changes and nerve conduction velocities vary from the demyelinating to axonal range (typically between 25-50m/sec). Is a True Hereditary nephropathy (disorder) Inferred relationship Some
A rare lethal combination of manifestations including short stature, congenital cataracts, encephalopathy with epileptic fits, and postmortem confirmation of nephropathy (renal tubular necrosis). There have been no further descriptions in the literature since 1963. Is a True Hereditary nephropathy (disorder) Inferred relationship Some
A rare autosomal dominant association characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects. Is a True Hereditary nephropathy (disorder) Inferred relationship Some
A rare genetic disease characterized by the association of epilepsy, ataxia, sensorineural hearing impairment, and renal tubulopathy. Patients present in infancy with generalized seizures, cerebellar dysfunction (including gait ataxia, intention tremor, and dysdiadochokinesis), and variable developmental delay and sensorineural hearing loss. Laboratory studies show persistent hypokalemic metabolic acidosis with hypomagnesemia. Additional reported neurologic features include brisk deep tendon reflexes, ankle clonus, extensor plantar responses, or nystagmus. Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumors (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism. Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Glomerulopathy with fibronectin deposits 2 (disorder) Is a False Hereditary nephropathy (disorder) Inferred relationship Some
A very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects. Is a True Hereditary nephropathy (disorder) Inferred relationship Some
An extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms. Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Multinodular goiter - cystic kidney - polydactyly syndrome is a very rare syndrome characterized by the association of multinodular goiter, cystic renal disease and digital anomalies. Is a False Hereditary nephropathy (disorder) Inferred relationship Some
Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a rare genetic disorder of water balance, closely resembling the far more frequent syndrome of inappropriate antidiuretic secretion (SIAD) and characterized by euvolemic hypotonic hyponatremia due to impaired free water excretion and undetectable or low plasma arginine vasopressin (AVP) levels. Is a True Hereditary nephropathy (disorder) Inferred relationship Some
This syndrome is characterized by intrauterine growth retardation, renal dysgenesis and a unilobed or absent thymus. Is a True Hereditary nephropathy (disorder) Inferred relationship Some
SERKAL (SEx Reversion, Kidneys, Adrenal and Lung dysgenesis) syndrome is characterized by female to male sex reversal and developmental anomalies of the kidneys, adrenal glands and lungs. Is a True Hereditary nephropathy (disorder) Inferred relationship Some
A rare a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and progressive, proteinuric steroid-resistant nephropathy. Is a True Hereditary nephropathy (disorder) Inferred relationship Some
A rare genetic, syndromic retinal disorder characterized by the association of retinitis pigmentosa, hypopituitarism, nephronophthisis, and skeletal dysplasia. Is a True Hereditary nephropathy (disorder) Inferred relationship Some
syndrome de tubulopathie proximale-diabète sucré-ataxie cérébelleuse Is a False Hereditary nephropathy (disorder) Inferred relationship Some
A rare genetic disease characterized by intrauterine growth retardation, permanent neonatal diabetes mellitus, and congenital hypothyroidism. Additional manifestations include congenital glaucoma, hepatic disease (hepatitis, fibrosis, and cirrhosis), polycystic kidneys, exocrine pancreatic dysfunction, sensorineural hearing impairment, developmental delay, and mild facial dysmorphism (such as flat nasal bridge, epicanthal folds, long philtrum, and low-set ears), among others. Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Hypoparathyroidism-sensorineural deafness-renal disease syndrome is a rare, clinically heterogeneous genetic disorder characterized by the triad of hypoparathyroidism (H), sensorineural deafness (D) and renal disease (R). Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Infundibulopelvic stenosis multicystic kidney syndrome (disorder) Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (FHHN) is a form of familial primary hypomagnesemia, characterized by recurrent urinary tract infections, nephrolithiasis, bilateral nephrocalcinosis, renal magnesium (Mg) wasting, hypercalciuria and kidney failure. Is a False Hereditary nephropathy (disorder) Inferred relationship Some
Neurofaciodigitorenal syndrome is a rare multiple developmental anomalies syndrome characterized by neurological abnormalities (including megalencephaly, hypotonia, intellectual disability, abnormal EEG), dysmorphic facial features (high prominent forehead, grooved nasal tip, ptosis, ear anomalies) and acrorenal defects (such as triphalangism, broad halluces, unilateral renal agenesis). Additionally, intrauterine growth restriction, short stature and congenital heart defects may be associated. There have been no further descriptions in the literature since 1997. Is a True Hereditary nephropathy (disorder) Inferred relationship Some
A rare, genetic renal tubular disease characterized by tubular damage and interstitial fibrosis in absence of glomerular lesions and clinically manifesting with chronic kidney disease (CKD) and slow progression to end-stage kidney disease (ESKD). Is a True Hereditary nephropathy (disorder) Inferred relationship Some
A rare syndromic renal disorder characterized by renal, neurologic and thyroid disease, associated with thrombocytopenia. There have been no further descriptions in the literature since 1978. Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Spastic paraplegia-nephritis-deafness syndrome is a complex form of hereditary spastic paraplegia characterized by progressive, variable spastic paraplegia associated with bilateral sensorineural deafness, intellectual disability, and progressive nephropathy. There have been no further descriptions in the literature since 1988. Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome is characterized by nonbullous congenital ichthyosis, intellectual deficit, dwarfism and renal impairment. It has been described in four members of one Iranian family. Transmission is autosomal recessive. Is a True Hereditary nephropathy (disorder) Inferred relationship Some
An extremely rare syndrome reported in two siblings of non-consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma, telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis and mild psychomotor delay. There have been no further descriptions in the literature since 1974. Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Renal coloboma syndrome (disorder) Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Autosomal dominant tubulointerstitial disease Is a False Hereditary nephropathy (disorder) Inferred relationship Some
Renal-hepatic-pancreatic dysplasia is a rare, genetic, developmental defect during embryogenesis syndrome characterized by the triad of pancreatic fibrosis (and cysts, with a reduction of parenchymal tissue), renal dysplasia (with peripheral cortical cysts, primitive collecting ducts, glomerular cysts and metaplastic cartilage) and hepatic dysgenesis (enlarged portal areas containing numerous elongated binary profiles with a tendency to perilobular fibrosis). Situs abnormalities, skeletal anomalies and anencephaly have also been associated. Patients that survive the neonatal period present renal insufficiency, chronic jaundice and insulin-dependent diabetes. Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Familial renal cell carcinoma (disorder) Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Hereditary clear cell renal cell carcinoma (ccRCC) is a hereditary renal cancer syndrome defined as development of ccRCC in two or more family members without evidence of constitutional chromosome 3 translocation, von Hippel-Lindau disease or other tumor predisposing syndromes associated with ccRCC, such as tuberous sclerosis or Birt-Hogg-Dubé syndrome. Is a False Hereditary nephropathy (disorder) Inferred relationship Some
A rare, genetic, renal tubular disease characterized by progressive outgrowths of fluid-filled cysts from the renal epithelium, which can manifest with hematuria, urinary tract infections, hypertension, and abdominal or flank pain. The slowly progressive loss of kidney function may evolve to end stage kidney disease (ESKD). Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Radio-renal syndrome is a rare developmental defect during embryogenesis characterized by variable upper limb reduction defects and renal anomalies. Patients typically present absence/hypoplasia of digits, radii and/or ulnae, short stature and mild external ear malformation, as well as kidney agenesis or ectopia. There have been no further descriptions in the literature since 1983. Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Torticollis-keloids-cryptorchidism-renal dysplasia syndrome is an extremely rare developmental defect during embryogenesis malformation syndrome characterized by congenital muscular torticollis associated with skin anomalies (such as multiple keloids, pigmented nevi, epithelioma), urogenital malformations (including cryptorchidism and hypospadias) and renal dysplasia (e.g. chronic pyelonephritis, renal atrophy). Additional reported features include varicose veins, intellectual disability and musculoskeletal anomalies. Is a True Hereditary nephropathy (disorder) Inferred relationship Some
LAMB2-related infantile-onset nephrotic syndrome Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Drash syndrome Is a True Hereditary nephropathy (disorder) Inferred relationship Some
A rare primary glomerular disease characterized by the association of congenital nephrotic syndrome, early onset renal failure and ocular anomalies with microcoria and severe neurodevelopment deficits. Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Congenital nephrotic syndrome with evidence of diffuse mesangial sclerosis on histology or with DNA evidence of a genetic mutation associated with diffuse mesangial sclerosis. Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Congenital nephrotic syndrome with focal glomerulosclerosis Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome Is a True Hereditary nephropathy (disorder) Inferred relationship Some
A rare, genetic multisystem disorder characterized by a neurodegenerative disorder associating global developmental delay, progressive microcephaly, and progressive cerebral and cerebellar atrophy with extrapyramidal involvement, progressive optic atrophy, and in many patients early-onset steroid-resistant nephrotic syndrome. Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Congenital nephrotic syndrome with evidence of an underlying congenital infection (e.g. syphilis, toxoplasmosis, rubella, hepatitis B). Is a True Hereditary nephropathy (disorder) Inferred relationship Some
NPHP3-related Meckel-like syndrome is a rare, genetic, syndromic renal malformation characterized by cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis, and absence of polydactyly. Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Cystinuria, type 1 Is a True Hereditary nephropathy (disorder) Inferred relationship Some
A rare, genetic, primary immunodeficiency disorder characterized by severe congenital neutropenia, bone marrow fibrosis and neutrophil dysfunction which is refractory to granulocyte colony-stimulating factor, manifesting with life-threatening infections and/or deep-seated abscesses, hepato-/splenomegaly, thrombocytopenia, hypergammaglobulinemia, anemia with reticulocytosis and nephromegaly. Other reported features include osteosclerosis and neurological abnormalities (e.g. developmental delay, cortical blindness, hearing loss, thin corpus callosum or dysrhythmia on EEG). Is a True Hereditary nephropathy (disorder) Inferred relationship Some
A rare, genetic, mitochondrial disease characterized by early-onset progressive renal failure, manifesting with hyperuricemia, hyponatremia, hypomagnesemia, hypochloremic metabolic alkalosis, elevated BUN and polyuria, associated with systemic manifestations which include pulmonary hypertension, failure to thrive, global developmental delay, hypotonia and ventricular hypertrophy. Additional features include prematurity, elevated serum lactate, diabetes mellitus and, in some, pancytopenia. Is a True Hereditary nephropathy (disorder) Inferred relationship Some
A rare, genetic, mitochondrial DNA depletion syndrome characterized by neonatal or early-infantile onset hepatopathy (manifesting with hepatomegaly, cholestasis, increased transaminases, coagulopathy, hypoalbuminemia, ascites, and/or liver failure), associated with renal tubulopathy and progressive neurodegenerative manifestations, which include muscular atrophy, hyporeflexia, ataxia, sensory neuropathy, epilepsy, sensorineural hearing impairment, psychomotor regression, athetosis, nystagmus, and/or ophthalmoplegia. Patients typically present with recurrent vomiting, severe failure to thrive, feeding difficulties, and fasting hypoglycemia. Is a True Hereditary nephropathy (disorder) Inferred relationship Some
A rare, genetic renal disease characterized by slowly progressive, chronic, tubulointerstitial nephritis, leading to end-stage renal disease before the age of 50 years, manifesting with mild proteinuria, glucosuria and, occasionally, urinary sediment abnormalities (mainly hematuria). Mild extrarenal manifestations, such as recurrent upper respiratory tract infections and abnormal liver function tests, may be associated. Renal biopsy reveals severe, chronic, interstitial fibrosis and tubular changes, as well as hallmark karyomegalic tubular epithelial cells which line the proximal and distal tubules and have enlarged, hyperchromatic nuclei. Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Leigh-Syndrom mit nephrotischem Syndrom Is a False Hereditary nephropathy (disorder) Inferred relationship Some
Holzgreve syndrome is an extremely rare, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by renal agenesis with Potter sequence, cleft lip/palate, oral synechiae, cardiac defects, and skeletal abnormalities including postaxial polydactyly. Intestinal nonfixation and intrauterine growth restriction are also associated. There have been no further descriptions in the literature since 1988. Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Thin basement membrane disease Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Polycystic kidney disease, infantile type Is a True Hereditary nephropathy (disorder) Inferred relationship Some
A rare, genetic coenzyme Q10 deficiency characterized by sensorineural deafness and severe, progressive nephrotic syndrome not responding to steroid treatment. Clinical manifestations include early onset proteinuria, hypoalbuminemia and edema, leading to end-stage renal disease. The renal biopsy reveals focal segmental glomerulosclerosis and diffuse mesangial sclerosis. Rarely, seizures, ataxia and dysmorphic features have been described. Is a True Hereditary nephropathy (disorder) Inferred relationship Some
A rare, genetic renal tubular disease characterized by phosphate loss in the proximal tubule, leading to hypercalciuria and recurrent urolithiasis and/or osteoporosis. Is a True Hereditary nephropathy (disorder) Inferred relationship Some
A rare genetic cerebral small vessel disease characterized by progressive loss of visual acuity due to retinal vasculopathy, in combination with more variable neurological signs and symptoms including stroke, cognitive decline, migraine-like headaches, and seizures, among others, typically beginning in middle age. Psychiatric features such as depression and anxiety may also occur. Systemic vascular involvement with Raynaud phenomenon, micronodular liver cirrhosis, and glomerular kidney dysfunction is present in a subset of patients. Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Inherited renal tubule insufficiency with cholestatic jaundice Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Inherited magnesium-losing nephropathy Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Saldino-Mainzer dysplasia Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Hereditary focal and segmental glomerular lesions Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Hereditary minor glomerular abnormality (disorder) Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Oligohydramnios sequence Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Non-progressive hereditary glomerulonephritis (disorder) Is a True Hereditary nephropathy (disorder) Inferred relationship Some
Lowe syndrome Is a True Hereditary nephropathy (disorder) Inferred relationship Some

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