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Atypical Gaucher disease due to saposin C deficiency
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Heritable pulmonary arterial hypertension
7 associated genes
No signs/symptoms info
Atypical Gaucher disease due to saposin C deficiency
Heritable pulmonary arterial hypertension

PSAP
(UniProt - OMIM)
 ACVRL1
(UniProt - OMIM)
BMPR2
(UniProt - OMIM)
CAV1
(UniProt - OMIM)
CBLN2
(UniProt - OMIM)
KCNK3
(UniProt - OMIM)
SMAD9
(UniProt - OMIM)
TBX4
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
PSAP
(0.74)
SMAD9


Citations in the biomedical literature:


Atypical Gaucher disease due to saposin C deficiency
PSAP
Heritable pulmonary arterial hypertension
ACVRL1 BMPR2 CAV1 CBLN2 KCNK3 SMAD9
TBX4



Atypical Gaucher disease due to saposin C deficiency
Heritable pulmonary arterial hypertension

Synonym(s):
(no synonyms)

Synonym(s):
- FPAH
- Familial pulmonary arterial hypertension
- Hereditary pulmonary arterial hypertension
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
Classification (Orphanet):
- Rare genetic disease
- Rare respiratory disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Diseases of the circulatory system -
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: unknown
Average age onset: variable
Average age of death: any age
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
External references:
No OMIM references
No MeSH references
No signs/symptoms info available.