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2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Intermittent hydrarthrosis
Niemann-Pick disease type B

MEFV SMPD1
TNFRSF1A


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
TNFRSF1A
(0.52)
SMPD1



Citations in the biomedical literature:


Intermittent hydrarthrosis
MEFV TNFRSF1A
Niemann-Pick disease type B
SMPD1



Intermittent hydrarthrosis
Niemann-Pick disease type B

Classification (Orphanet):
- Rare genetic disease
- Rare systemic or rheumatologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
- Rare respiratory disease

Classification (ICD10):
(no data available)
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: childhood
Average age of death: young adult
Type of inheritance: autosomal recessive

External references:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D052537

No signs/symptoms info available.