| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| X-linked panhypopituitarism (disorder) |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| X-linked hypoparathyroidism (disorder) |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Kallmann syndrome with cardiopathy is characterized by hypogonadotropic hypogonadism associated with gonadotropin-releasing hormone (GnRH) deficiency, anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs) and complex congenital cardiac malformations (double-outlet right ventricle, dilated cardiomyopathy, right aortic arch). It represents a distinct clinical entity from Kallmann syndrome. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Hereditary growth hormone deficiency (disorder) |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| A rare disorder with multisystemic involvement and glomerulopathy characterized by progressive steroid-resistant nephrotic syndrome typically associated with focal segmental glomerulosclerosis, as well as primary adrenal insufficiency with adrenal calcifications. Age of onset and disease course are variable, with some cases presenting as severe fetal hydrops, while most patients present in infancy or early childhood and progress to end-stage renal disease within a few years. Additional features include ichthyosis, primary hypothyroidism, hypogonadism, immunodeficiency, and neurological manifestations (such as cognitive impairment, ataxia, sensorineural hearing loss, or seizures). |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| A rare hereditary ataxia characterised by neurogenic muscular atrophy associated with signs of cerebellar ataxia, hypaesthesia, degeneration of the retina, and diabetes mellitus. Onset of the disease is in adolescence and the course is slowly progressive. There have been no further descriptions in the literature since 1983. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Sanjad-Sakati syndrome (SSS), also known as hypoparathyroidism - intellectual disability-dysmorphism, is a rare multiple congenital anomaly syndrome, mainly occurring in the Middle East and the Arabian Gulf countries, characterized by intrauterine growth restriction at birth, microcephaly, congenital hypoparathyroidism (that can cause hypocalcemic tetany or seizures in infancy), severe growth retardation, typical facial features (long narrow face, deep-set eyes, beaked nose, floppy and large ears, long philtrum, thin lips and micrognathia), and mild to moderate intellectual deficiency. Ocular findings (i.e. nanophthalmos, retinal vascular tortuosity and corneal opacification/clouding) and superior mesenteric artery syndrome have also been reported. Although SSS shares the same locus with the autosomal recessive form of Kenny-Caffey syndrome, the latter differs from SSS by its normal intelligence and skeletal features. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| A rare genetic endocrine disease characterized by intrauterine growth restriction, failure of an adolescent growth spurt with proportional adult short stature, insulin resistance, and early adulthood-onset diabetes. Minimal subluxation of the fifth metacarpal-phalangeal joint has been reported, while metaphyseal dysplasia is absent. Testicular volume is low, but fertility is normal. There is no evidence of primary adrenal insufficiency. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| A rare familial partial lipodystrophy characterized by severe partial lipoatrophy affecting the limbs, trunk, and abdomen, together with faciocervical fat accumulation. Additional manifestations include diabetes, acanthosis nigricans, liver steatosis, and hypertriglyceridemia, as well as low serum leptin and adiponectin levels. Severe cardiac rhythm and conduction disturbances have also been reported. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| A rare, genetic lipodystrophy characterized by abnormal subcutaneous fat distribution, resulting in preservation of visceral, neck and axillary fat and absence of lower limb and femoro gluteal subcutaneous fat. Additional clinical features are acanthosis nigricans, insulin-resistant type II diabetes mellitus, dyslipidemia, and hypertension, leading to pancreatitis, hepatomegaly and hepatic steatosis. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| A rare, genetic lipodystrophy characterized by abnormal subcutaneous fat distribution, resulting in excess accumulation of fat in the face, neck, shoulders, axillae, trunk and pubic region, and loss of subcutaneous fat from the lower extremities. Variable common additional features are progressive adult onset myopathy, insulin resistance, diabetes, hypertriglyceridemia, hepatic steatosis, and vitiligo. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| A rare familial partial lipodystrophy characterized by adult onset of distal lipoatrophy with gluteofemoral fat loss, as well as increased fat accumulation in the face and trunk and visceral adiposity. Additional manifestations include diabetes mellitus, atherogenic dyslipidemia, eyelid xanthelasmas, arterial hypertension, cardiovascular disease, hepatic steatosis, acanthosis nigricans on axillae and neck, hirsutism, and muscular hypertrophy of the lower limbs. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| A rare familial partial lipodystrophy characterized by adult onset of distal lipoatrophy and severe insulin resistance in the liver and peripheral tissues, hyperinsulinemia, and diabetes mellitus. Acanthosis nigricans and hypertension have been reported in association. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| A rare hypomyelinating leukodystrophy disorder characterized by the association of dental abnormalities (delayed dentition, abnormal order of dentition, hypodontia), hypogonadotropic hypogonadism, and hypomyelinating leukodystrophy manifesting with neurodevelopmental delay or regression and/or progressive cerebellar symptoms. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| A rare genetic disease characterized by severe pre- and postnatal growth failure with short stature and microcephaly, facial dysmorphism (including a small jaw and prominent midface), severe insulin resistance, fatty liver, and hypertriglyceridemia developing in childhood, and primary gonadal failure. Mild global learning difficulties and acanthosis nigricans have also been reported. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| A rare tumor of pancreas caused by mutations in the GCGR gene characterized by pancreatic alpha cell hyperplasia, pancreatic neuroendocrine tumors and markedly increased serum glucagon levels in the absence of a glucagonoma syndrome. Clinical manifestations may include abdominal pain, pancreatitis, fatigue, diarrhea, and diabetes mellitus. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| A rare endocrine disease characterized by neonatal hypoglycemia, prolonged cholestatic jaundice, and seizures. Typical are low plasma ACTH and cortisol levels in the absence of structural pituitary defects, and sometimes low partial growth hormone deficiency is associated. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| A rare genetic disease characterized by pre- and postnatal growth restriction, developmental delay, adrenal hypoplasia, genital abnormalities (such as microphallus, hypospadias, or cryptorchidism), thrombocytopenia and/or anemia, recurrent severe invasive infections, and enteropathy with chronic diarrhea. Myelodysplastic syndrome and dysmorphic features (including downslanting palpebral fissures, low-set and posteriorly rotated ears, anteverted nares, camptodactyly, and arachnodactyly, among others) may also be observed. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Alstrom syndrome |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| A rare genetic disorder with difference of sex development characterized by primary amenorrhea, short stature, delayed bone age, decreased levels of estradiol, elevated levels of follicle-stimulating hormone and luteinizing hormone, absent or underdeveloped uterus and ovaries, delayed development of pubic and axillary hair, and normal 46,XX karyotype. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| A rare inherited disorder due to the ectopic expression of the aldosterone synthase in the fascicular zone of the adrenal gland and marked with early severe hypertension (often occurring before the age of 20), biological signs of primary aldosteronism of variable intensity, and an abnormal elevated level of 18-oxo- and 18-hydroxycortisol. |
Is a |
False |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| A rare genetic disease characterized by juvenile-onset insulin-dependent diabetes mellitus associated with central and peripheral nervous system abnormalities with variable onset between infancy and adolescence. Neurological manifestations include combined cerebellar and afferent ataxia, sensorineural hearing loss, pyramidal tract signs, and demyelinating sensorimotor peripheral neuropathy. Hypothyroidism has been reported in some patients. Brain imaging may show generalized cerebral atrophy. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| A form of monogenic obesity with characteristics of severe early-onset obesity and marked hyperphagia. Patients with congenital leptin deficiency are severely hyperphagic from early infancy and, although birthweight is normal, they rapidly become obese during early childhood. An increased susceptibility to infections has also been reported in these infants and appears to be associated with reduced numbers of circulating CD4+ T cells, and impaired T cell proliferation and cytokine release. Absence of serum leptin is caused by homozygous frameshift or missense mutations in the ob gene (7q31.3) and is inherited as an autosomal recessive trait. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| A rare genetic hyperthyroidism characterized by elevated levels of circulating free thyroid hormones, normal or elevated thyroid-stimulating hormone, decreased peripheral tissue responses to iodothyronine action, and a highly variable clinical phenotype which most commonly includes goiter, resting tachycardia, osteoporosis, short stature, and attention deficit disorder. Some patients may be entirely asymptomatic. |
Is a |
False |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| A rare genetic disease characterized by childhood onset of multiple endocrine manifestations in combination with central and peripheral nervous system abnormalities. Reported signs and symptoms include postnatal growth retardation, moderate intellectual disability, hypogonadotropic hypogonadism, insulin-dependent diabetes mellitus, central hypothyroidism, demyelinating sensorimotor polyneuropathy, and cerebellar and pyramidal signs. Progressive hearing loss and a hypoplastic pituitary gland have also been described. Brain imaging shows moderate white matter abnormalities. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by global developmental delay, postnatal microcephaly, intellectual disability, ataxia, sensorineural hearing loss, and exocrine pancreatic insufficiency. More variable manifestations include hypotonia, growth retardation, peripheral demyelinating neuropathy, dysmorphic facial features, and additional endocrine abnormalities. Brain imaging may show progressive cerebellar atrophy in some patients. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| A rare thyroid disease characterized by familial occurrence of thyroid enlargement due to the development of multiple hyperplastic nodules with onset in childhood or adolescence. The condition is commonly associated with the development of other benign or malignant tumors. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by choanal atresia, athelia or hypoplastic nipples, branchial arch abnormalities, external ear malformations, hearing loss, thyroid abnormalities, delayed or absent pubertal development, and short stature. Developmental delay/intellectual disability are variably reported. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| A rare difference of sex development (DSD) characterised by the presence of female external genitalia, ambiguous genitalia or variable defects in virilisation in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS). |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| A rare chromosomal anomaly with characteristics of complex glycerol kinase deficiency, congenital adrenal hypoplasia, intellectual disability and/or Duchenne muscular dystrophy that usually affect males. The clinical features depend on the deletion size and the number and type of involved genes. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Autosomal dominant hereditary arginine vasopressin deficiency (disorder) |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Autosomal recessive hereditary arginine vasopressin deficiency (disorder) |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Familial hyperaldosteronism |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Diabetes mellitus due to cystic fibrosis (disorder) |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| An early-onset and most severe form of rare haemochromatosis characterised by the usual features of haemochromatosis accompanied by cardiomyopathy and hypogonadism. |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
| Thyroid hormone responsiveness defect |
Is a |
True |
Hereditary disorder of endocrine system (disorder) |
Inferred relationship |
Some |
|
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