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Distal hereditary motor neuropathy type 7
2 OMIM references -
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Immunodeficiency by defective expression of HLA class 2
1 OMIM reference -
4 associated genes
No signs/symptoms info
Distal hereditary motor neuropathy type 7
Immunodeficiency by defective expression of HLA class 2

DCTN1
(UniProt - OMIM)
 CIITA
(UniProt - OMIM)
SLC5A7
(UniProt - OMIM)
 RFX5
(UniProt - OMIM)
RFXANK
(UniProt - OMIM)
RFXAP
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
DCTN1
(0.76)
RFXANK


Citations in the biomedical literature:


Distal hereditary motor neuropathy type 7
DCTN1 SLC5A7
Immunodeficiency by defective expression of HLA class 2
CIITA RFX5 RFXANK RFXAP



Distal hereditary motor neuropathy type 7
Immunodeficiency by defective expression of HLA class 2

Synonym(s):
- Distal spinal muscular atrophy with vocal cord paralysis
- dHMN7
Synonym(s):
- Bare lymphocyte syndrome type 2
- HLA class 2-negative severe combined immunodeficiency
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
2 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
No signs/symptoms info available.