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Hereditary motor and sensory neuropathy, Okinawa type
1 OMIM reference -
1 associated gene
21 connected diseases
No signs/symptoms info
Disease Type of connection
Extraskeletal myxoid chondrosarcoma
Papillary or follicular thyroid carcinoma
Spastic paraplegia-optic atrophy-neuropathy syndrome
Common variable immunodeficiency
Congenital bilateral absence of vas deferens
Cystic fibrosis
Hereditary chronic pancreatitis
Idiopathic bronchiectasis
Male infertility with normal virilization due to meiosis defect
Acute promyelocytic leukemia
Autosomal dominant limb-girdle muscular dystrophy type 1A
Cabezas syndrome
Combined immunodeficiency due to STK4 deficiency
Cornelia de Lange syndrome
Herpetic encephalitis
Laron syndrome with immunodeficiency
Monomelic amyotrophy
Myotilin-related myofibrillar myopathy without spheroid body
Pontocerebellar hypoplasia type 1
Pseudohypoaldosteronism type 2E
Spheroid body myopathy
Synonym(s):
- HMSNP
- Hereditary motor and sensory neuropathy, proximal type
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: unknown
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
1 MeSH reference: C535717
Gene symbol UniProt reference OMIM reference
TFG Q92734602498
No signs/symptoms info available.