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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
JMP syndrome
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema

PSMB8 IKBKG


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


JMP syndrome
PSMB8
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
IKBKG



JMP syndrome
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema

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

Synonym(s):
- OL-EDA-ID

Classification (Orphanet):
- Rare genetic disease
- Rare skin disease
- Rare systemic or rheumatologic disease
Classification (Orphanet):
- Rare bone disease
- Rare circulatory system disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare immune disease
- Rare skin disease

Classification (ICD10):
(no data available)
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

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: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: x-linked recessive

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

No signs/symptoms info available.