Cytoscape Web
Click node...

Distal hereditary motor neuropathy type 7
2 OMIM references -
2 associated genes
52 connected diseases
No signs/symptoms info
Disease Type of connection
Amyotrophic lateral sclerosis
Perry syndrome
Bardet-Biedl syndrome
Retinitis pigmentosa
17p13.3 microduplication syndrome
Lissencephaly due to LIS1 mutation
Miller-Dieker syndrome
Subcortical band heterotopia
Autosomal dominant Charcot-Marie-Tooth disease type 2O
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Autosomal dominant nonsyndromic intellectual deficit
Pulverulent cataract
Microcephaly - lymphedema - chorioretinopathy
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
Immunodeficiency by defective expression of HLA class 2
Behavioral variant of frontotemporal dementia
Classical progressive supranuclear palsy
Progressive non-fluent aphasia
Progressive supranuclear palsy - corticobasal syndrome
Progressive supranuclear palsy - parkinsonism
Progressive supranuclear palsy - progressive non fluent aphasia
Progressive supranuclear palsy - pure akinesia with gait freezing
Semantic dementia
Craniolenticulosutural dysplasia
Burkitt lymphoma
Chronic mucocutaneous candidiasis
Chuvash erythrocytosis
Cowden syndrome
Glycogen storage disease due to muscle beta-enolase deficiency
Hermansky-Pudlak syndrome type 7
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Precursor T-cell acute lymphoblastic leukemia
Proteus syndrome
Pseudohypoaldosteronism type 2E
Split hand-split foot malformation
Susceptibility to viral and mycobacterial infections
Von Hippel-Lindau disease
Infantile Refsum disease
Neonatal adrenoleukodystrophy
Zellweger syndrome
Familial isolated dilated cardiomyopathy
Muscular dystrophy, Selcen type
Achromatopsia
Cone rod dystrophy
Primary ciliary dyskinesia
Primary ciliary dyskinesia - retinitis pigmentosa
Spectrin-associated autosomal recessive cerebellar ataxia
Spinocerebellar ataxia type 5
X-linked dominant chondrodysplasia, Chassaing-Lacombe type
Distal myopathy with posterior leg and anterior hand involvement
Isolated 3-methylcrotonyl-CoA carboxylase deficiency
Muscle filaminopathy
Synonym(s):
- Distal spinal muscular atrophy with vocal cord paralysis
- dHMN7
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
External references:
2 OMIM references -
No MeSH references
Gene symbol UniProt reference OMIM reference
DCTN1 Q14203601143
SLC5A7 Q9GZV3608761
No signs/symptoms info available.