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Distal hereditary motor neuropathy type 5
2 OMIM references -
3 associated genes
17 connected diseases
No signs/symptoms info
Disease Type of connection
Autosomal dominant Charcot-Marie-Tooth disease type 2D
Autosomal dominant spastic paraplegia type 17
Autosomal dominant spastic paraplegia type 31
Berardinelli-Seip congenital lipodystrophy
Severe neurodegenerative syndrome with lipodystrophy
17p13.3 microduplication syndrome
Autosomal dominant hypohidrotic ectodermal dysplasia
Congenital myasthenic syndromes with glycosylation defect
Craniolenticulosutural dysplasia
Distal 17p13.3 microdeletion syndrome
Estrogen resistance syndrome
Inflammatory myofibroblastic tumor
Miller-Dieker syndrome
Autosomal dominant Charcot-Marie-Tooth disease type 2N
Hypomyelination with brain stem and spinal cord involvement and leg spasticity
X-linked distal arthrogryposis multiplex congenita
Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome
Synonym(s):
- Distal spinal muscular atrophy type 5
- dHMN5
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: -
Average age onset: adolescence / young
Average age of death: -
Type of inheritance: autosomal dominant
External references:
2 OMIM references -
No MeSH references
Gene symbol UniProt reference OMIM reference
BSCL2 Q96G97606158
GARS P41250600287
REEP1 Q9H902609139
No signs/symptoms info available.