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Autosomal dominant congenital benign spinal muscular atrophy
1 OMIM reference -
1 associated gene
11 connected diseases
5 signs/symptoms
Disease Type of connection
Autosomal dominant Charcot-Marie-Tooth disease type 2C
Autosomal dominant brachyolmia
Familial digital arthropathy-brachydactyly
Metatropic dysplasia
Parastremmatic dwarfism
Spondyloepiphyseal dysplasia, Maroteaux type
Spondylometaphyseal dysplasia, Kozlowski type
Syndromic multisystem autoimmune disease due to Itch deficiency
Severe combined immunodeficiency due to LCK deficiency
Catecholaminergic polymorphic ventricular tachycardia
Hereditary cerebral cavernous malformation
Synonym(s):
- Autosomal dominant benign distal spinal muscular atrophy
- Congenital benign spinal muscular atrophy with contractures
- Congenital nonprogressive spinal muscular atrophy
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
TRPV4 Q9HBA0605427
Very frequent
- Autosomal recessive inheritance
- Hypotonia
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Restricted joint mobility / joint stiffness / ankylosis
- Wasted (excluding lipodystrophy) / poorly muscled build / cachexy