| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| X-linked hereditary motor and sensory neuropathy |
Is a |
True |
Hereditary motor and sensory neuropathy (disorder) |
Inferred relationship |
Some |
|
| Déjérine-Sottas disease |
Is a |
True |
Hereditary motor and sensory neuropathy (disorder) |
Inferred relationship |
Some |
|
| Hereditary sensory neuropathy |
Is a |
True |
Hereditary motor and sensory neuropathy (disorder) |
Inferred relationship |
Some |
|
| Hereditary motor and sensory neuropathy with optic atrophy |
Is a |
True |
Hereditary motor and sensory neuropathy (disorder) |
Inferred relationship |
Some |
|
| Hereditary motor and sensory neuropathy with retinitis pigmentosa |
Is a |
True |
Hereditary motor and sensory neuropathy (disorder) |
Inferred relationship |
Some |
|
| HSMN IV |
Is a |
True |
Hereditary motor and sensory neuropathy (disorder) |
Inferred relationship |
Some |
|
| Charcot-Marie-Tooth disease |
Is a |
False |
Hereditary motor and sensory neuropathy (disorder) |
Inferred relationship |
Some |
|
| Hereditary sensory-motor neuropathy, type V |
Is a |
False |
Hereditary motor and sensory neuropathy (disorder) |
Inferred relationship |
Some |
|
| Peroneal muscular atrophy NOS |
Is a |
False |
Hereditary motor and sensory neuropathy (disorder) |
Inferred relationship |
Some |
|
| Roussy-Levy syndrome |
Is a |
False |
Hereditary motor and sensory neuropathy (disorder) |
Inferred relationship |
Some |
|
| Andermann syndrome |
Is a |
True |
Hereditary motor and sensory neuropathy (disorder) |
Inferred relationship |
Some |
|
| Family history of Charcot-Marie-Tooth disease (situation) |
Associated finding |
False |
Hereditary motor and sensory neuropathy (disorder) |
Inferred relationship |
Some |
2 |
| Charcot-Marie-Tooth disease, type II (disorder) |
Is a |
True |
Hereditary motor and sensory neuropathy (disorder) |
Inferred relationship |
Some |
|
| Charcot-Marie-Tooth disease, type I (disorder) |
Is a |
True |
Hereditary motor and sensory neuropathy (disorder) |
Inferred relationship |
Some |
|
| Charcot-Marie-Tooth disease type 4 (CMT4) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases. Type 4 is less common and often limited to certain ethnic groups. Patients present with the typical CMT phenotype along with typical features of progressive, distally accentuated weakness and atrophy of muscles innervated by the peroneal nerve in the lower limbs, followed by weakness and atrophy of hands, sensory loss, and characteristic foot abnormalities. |
Is a |
True |
Hereditary motor and sensory neuropathy (disorder) |
Inferred relationship |
Some |
|
| Hereditary thermosensitive neuropathy (disorder) |
Is a |
True |
Hereditary motor and sensory neuropathy (disorder) |
Inferred relationship |
Some |
|
| Hereditary motor and sensory neuropathy, Okinawa type is a rare, genetic, axonal hereditary motor and sensory neuropathy characterized by the adult-onset of slowly progressive, symmetric, proximal dominant muscle weakness and atrophy, painful muscle cramps, fasciculations and distal sensory impairment, mostly (but not exclusively) in individuals (and their descendents) from the Okinawa region in Japan. Absent deep tendon reflexes, elevated creatine kinase levels and autosomal dominant inheritance are also characteristic. |
Is a |
True |
Hereditary motor and sensory neuropathy (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 motor and sensory neuropathy (disorder) |
Inferred relationship |
Some |
|
| A rare, complex type of hereditary spastic paraplegia characterized by early-onset progressive spastic paraplegia presenting in infancy, associated with optic atrophy, fixation nystagmus, polyneuropathy occurring in late childhood/early adolescence leading to severe motor disability and progressive joint contractures and scoliosis. |
Is a |
False |
Hereditary motor and sensory neuropathy (disorder) |
Inferred relationship |
Some |
|
| Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome is a rare demyelinating hereditary motor and sensory neuropathy characterised by early-onset, slowly progressive, distal muscular weakness and atrophy with no sensory impairment, congenital sensorineural deafness and mild intellectual disability (with absence of normal speech development). The absence of large, myelinated fibres on sural nerve biopsy is equally characteristic of the disease. |
Is a |
True |
Hereditary motor and sensory neuropathy (disorder) |
Inferred relationship |
Some |
|
| Microcephaly-complex motor and sensory axonal neuropathy syndrome is an extremely rare subtype of hereditary motor and sensory neuropathy characterized by severe, rapidly progressing, distal, symmetric polyneuropathy and microcephaly (which can be evident in utero) with intact cognition. Clinically it presents with delayed motor development, hypotonia, absent or reduced deep tendon reflexes, progressive muscle wasting and weakness and scoliosis. |
Is a |
True |
Hereditary motor and sensory neuropathy (disorder) |
Inferred relationship |
Some |
|
| A rare hereditary demyelinating motor and sensory neuropathy characterized by slowed nerve conduction velocities, in the absence of clinically apparent neurological deficits, gait abnormalities or muscular atrophy, associated with a germline mutation in the ARGHEF10 gene. |
Is a |
True |
Hereditary motor and sensory neuropathy (disorder) |
Inferred relationship |
Some |
|
| A rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with usual clinical features of Charcot-Marie-Tooth disease (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities) in the first to second decade of life with steady progression until the fourth decade, severe progression and stabilization afterwards. |
Is a |
True |
Hereditary motor and sensory neuropathy (disorder) |
Inferred relationship |
Some |
|
| A rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with mild to moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings include asymptomatic neutropenia and early-onset cataracts. |
Is a |
True |
Hereditary motor and sensory neuropathy (disorder) |
Inferred relationship |
Some |
|
| A rare hereditary motor and sensory neuropathy characterised by intermediate motor median nerve conduction velocities (usually between 25 and 60 m/s). It presents with moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, feet deformities, extensor digitorum brevis atrophy). Findings in nerve biopsies include age-dependent axonal degeneration, reduced number of large myelinated fibres, segmental remyelination, and no onion bulbs. |
Is a |
True |
Hereditary motor and sensory neuropathy (disorder) |
Inferred relationship |
Some |
|
| A rare hereditary motor and sensory neuropathy characterised by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both axonal degeneration and demyelination without onion bulbs in nerve biopsies. It presents with usual Charcot-Marie-Tooth disease clinical features of variable severity (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings in some of the families include debilitating neuropathic pain and mild postural/kinetic upper limb tremor. |
Is a |
True |
Hereditary motor and sensory neuropathy (disorder) |
Inferred relationship |
Some |
|
| Severe early-onset axonal neuropathy due to MFN2 deficiency is a rare axonal hereditary motor and sensory neuropathy characterized by early onset (<10 years) progressive distal muscle weakness and wasting of the lower limbs and later, to a lesser extent the upper limbs resulting in foot and wrist drop, areflexia, skeletal deformities (kyphoscoliosis, pes cavus with flattening, joint contractures), mild sensory impairment with vibration sense reduced to a greater extent than pain, optic atrophy and hearing loss. Wheelchair dependence by adolescence is usual and respiratory impairment with diaphragmatic paralysis may develop. |
Is a |
True |
Hereditary motor and sensory neuropathy (disorder) |
Inferred relationship |
Some |
|
| A rare hereditary motor and sensory neuropathy disorder characterized by the typical CMT phenotype (slowly progressive distal muscle atrophy and weakness in upper and lower limbs, distal sensory loss in extremities, reduced or absent deep tendon reflexes and foot deformities) with nerve biopsy demonstrating demyelinating and axonal changes and nerve conduction velocities varying from the demyelinating to axonal range. |
Is a |
True |
Hereditary motor and sensory neuropathy (disorder) |
Inferred relationship |
Some |
|
| Hereditary motor and sensory neuropathy type 5 is a rare axonal hereditary motor and sensory neuropathy characterized by slowly progressive distal muscle weakness and atrophy with or without sensory loss resulting in difficulty in walking, foot drop and pes cavus, that may be associated with pyramidal signs (extensor plantar responses, mild increase in tone, brisk tendon reflexes), muscle cramps, pain and spasticity. |
Is a |
True |
Hereditary motor and sensory neuropathy (disorder) |
Inferred relationship |
Some |
|
| Hereditary motor and sensory neuropathy with acrodystrophy is a rare axonal hereditary motor and sensory neuropathy characterized by progressive axonal neuropathy with limb weakness and severe distal sensory loss in all limbs and acrodystrophic changes leading to painless non-healing ulcers, osteomyelitis, contractures and mutilating lesions with loss of terminal phalanges. One family with three affected siblings is described and there have been no further descriptions in the literature since 1999. |
Is a |
True |
Hereditary motor and sensory neuropathy (disorder) |
Inferred relationship |
Some |
|
| Digital extensor muscle aplasia-polyneuropathy is a rare, hereditary motor and sensory neuropathy characterized by flexion deformities of the thumb and fingers, sensory deficit in the hand and polyneuropathic electrophysiologic findings in the limbs. Operation on the hands reveals extensor muscles and their tendons to be absent or hypoplastic. There have been no further descriptions in the literature since 1986. |
Is a |
True |
Hereditary motor and sensory neuropathy (disorder) |
Inferred relationship |
Some |
|
| A subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by severe, early childhood-onset CMT neuropathy with prominent pes equinovarus deformity and impairment of hand muscles. Nerve conduction velocities usually range between 25-35 m/s and both axonal and demyelinating changes are observed on peripheral nerve pathology. |
Is a |
True |
Hereditary motor and sensory neuropathy (disorder) |
Inferred relationship |
Some |
|
| A rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by a CMT neuropathy associated with developmental delay, self-abusive behavior, dysmorphic features and vestibular Schwannoma. Motor nerve conduction velocities demonstrate features of both demyelinating and axonal pathology. |
Is a |
True |
Hereditary motor and sensory neuropathy (disorder) |
Inferred relationship |
Some |
|
| A rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by childhood to adulthood-onset of progressive, moderate to severe, predominantly distal, mostly lower limb muscle weakness and atrophy, foot deformities (including pes cavus and hammer toes), absent deep tendon reflexes and distal sensory loss associated with decreased motor and sensory nerve conduction velocities and features of both demyelinating and axonal neuropathy on sural nerve biopsy. |
Is a |
True |
Hereditary motor and sensory neuropathy (disorder) |
Inferred relationship |
Some |
|
| A rare subtype of autosomal dominant intermediate Charcot-Marie-Tooth disease characterized by debilitating neuropathic pain associated with mild, distal, symmetrical lower limb sensory loss and mild or absent motor dysfunction. Patients typically manifest with burning, aching, shooting, or throbbing pain and intermittent paresthesia in toes, heels and ankles. |
Is a |
True |
Hereditary motor and sensory neuropathy (disorder) |
Inferred relationship |
Some |
|
| A rare, genetic, demyelinating hereditary motor and sensory neuropathy disorder characterized by slowly progressive, mild to moderate, distal muscle weakness and atrophy of the upper and lower limbs and variable distal sensory impairment, associated with variable hyperextensible skin and age-related macular degeneration. Hypermobility of distal joints, high palate, and minor skeletal abnormalities (e.g. pectus excavatum, dolichocephaly) may also be associated. |
Is a |
True |
Hereditary motor and sensory neuropathy (disorder) |
Inferred relationship |
Some |
|
| Roussy-Lévy syndrome |
Is a |
True |
Hereditary motor and sensory neuropathy (disorder) |
Inferred relationship |
Some |
|
| A rare partial duplication of the long arm of chromosome 17 characterized by a combination of features of 17p11.2 microduplication syndrome and Charcot-Marie-Tooth disease type 1A. Patients present with infantile onset of global developmental delay, hypotonia, feeding difficulties, and failure to thrive, as well as childhood onset of peripheral neuropathy with distal extremity weakness or atrophy, gait impairment, sensory loss, reduced or absent deep tendon reflexes of the ankles, and foot deformities. Facial dysmorphism, cardiac and renal anomalies, and syringomyelia may also be observed. |
Is a |
True |
Hereditary motor and sensory neuropathy (disorder) |
Inferred relationship |
Some |
|
| Autosomal recessive intermediate Charcot-Marie-Tooth disease type D is a rare hereditary motor and sensory neuropathy characterized by childhood onset of unsteady gait, pes cavus, frequent falls and foot dorsiflexor weakness slowly progressing to distal upper and lower limb muscle weakness and atrophy, distal sensory impairment and reduced tendon reflexes. Additional symptoms may include bilateral sensorineural hearing impairment and neuropathic pain. |
Is a |
True |
Hereditary motor and sensory neuropathy (disorder) |
Inferred relationship |
Some |
|
| A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by motor-predominant axonal polyneuropathy due to a defect in copper metabolism. Patients become symptomatic in infancy or childhood with subtle motor delay or regression, manifesting with progressive weakness, muscle wasting, and absent reflexes in the lower and upper extremities. In addition, vibratory sensation is mildly diminished. Involvement of the face with weakness and fasciculation of facial muscles has also been described. |
Is a |
True |
Hereditary motor and sensory neuropathy (disorder) |
Inferred relationship |
Some |
|
| A rare, genetic, autosomal dominant hereditary axonal motor and sensory neuropathy disorder characterized by childhood-onset palmoplantar keratoderma associated with motor and sensory polyneuropathy manifesting with late-onset, predominantly distal, lower limb muscle weakness and atrophy (later associating mild proximal weakness and upper limb involvement), moderate sensory impairment (hypoesthesia with stocking-glove distribution), and normal or near-normal nerve conduction velocities. Additional variable manifestations include impaired vibratory sensation, reduced tendon reflexes, paresthesia, pain, talipes equinovarus, pes cavus, and nail dystrophy. |
Is a |
True |
Hereditary motor and sensory neuropathy (disorder) |
Inferred relationship |
Some |
|
| A rare, genetic, autosomal recessive axonal hereditary motor and sensory neuropathy disease characterized by prenatal onset of a severe sensorimotor axonal polyneuropathy (reflected by reduced fetal movement and polyhydramnios), manifesting, at birth, with respiratory failure requiring mechanical ventilation, profound muscular hypotonia, rapidly progressing distal muscle weakness, and absent deep tendon reflexes, in the absence of contractures, leading to death before 8 months of age. Neuropathological findings show severe loss of large- and medium-sized myelinated fibers without signs of demyelination. |
Is a |
True |
Hereditary motor and sensory neuropathy (disorder) |
Inferred relationship |
Some |
|
| Family history of Charcot-Marie-Tooth disease (situation) |
Associated finding |
True |
Hereditary motor and sensory neuropathy (disorder) |
Inferred relationship |
Some |
1 |
| A rare, congenital, autosomal recessive axonal hereditary motor and sensory neuropathy disease characterized by axonal neuropathy, manifesting at birth or shortly thereafter with generalized muscular hypotonia, prominently distal muscular weakness, respiratory/swallowing difficulties and diffuse areflexia, associated with central nervous system involvement, which includes progressive microcephaly, seizures, and global developmental delay. Additional variable manifestations include hearing impairment, ocular lesions, skeletal anomalies (e.g. talipes equinovarus, overriding toes, scoliosis, joint contractures), cryptorchidism, and dysmorphic features (such as coarse facies, hypertelorism, high-arched palate). Outcome is typically poor due to respiratory insufficiency and/or aspiration pneumonia. |
Is a |
True |
Hereditary motor and sensory neuropathy (disorder) |
Inferred relationship |
Some |
|
| A rare neurologic disease characterized by axonal sensorimotor neuropathy, progressive optic atrophy, cognitive deficit, bulbar dysfunction, seizures, and early hypotonia and feeding difficulties. Additional possible features include dystonia, scoliosis, joint contractures, ocular anomalies, and urogenital anomalies. Brain MRI reveals variable degrees of cerebral atrophy. The disease is fatal in childhood due to respiratory failure. |
Is a |
True |
Hereditary motor and sensory neuropathy (disorder) |
Inferred relationship |
Some |
|
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