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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 2
1 OMIM reference -
3 associated genes
No signs/symptoms info
JMP syndrome
Immunodeficiency by defective expression of HLA class 1

PSMB8 TAP1
TAP2
TAPBP


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
PSMB8
PSMB8
(0.63)
(0.63)
TAP1
TAP2



Citations in the biomedical literature:


JMP syndrome
PSMB8
Immunodeficiency by defective expression of HLA class 1
TAP1 TAP2 TAPBP



JMP syndrome
Immunodeficiency by defective expression of HLA class 1

Synonym(s):
- Joint contractures-muscular atrophy-microcytic anemia-panniculitis-associated lipodystrophy syndrome

Synonym(s):
- Bare lymphocyte syndrome type 1

Classification (Orphanet):
- Rare genetic disease
- Rare skin disease
- Rare systemic or rheumatologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease

Classification (ICD10):
(no data available)
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: no data available
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal recessive

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references

No signs/symptoms info available.