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3 OMIM references -
3 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Distal hereditary motor neuropathy type 2
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

HSPB1 ISG15
HSPB3
HSPB8


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
HSPB1
(0.63)
ISG15



Citations in the biomedical literature:


Distal hereditary motor neuropathy type 2
HSPB1 HSPB3 HSPB8
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ISG15



Distal hereditary motor neuropathy type 2
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

Synonym(s):
- Distal spinal muscular atrophy type 2
- dHMN2
- dSMA2

Synonym(s):
- MSMD due to complete ISG15 deficiency

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: adolescence / young
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal recessive

External references:
3 OMIM references -
No MeSH references
External references:
No OMIM references
No MeSH references

No signs/symptoms info available.