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7 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Heritable pulmonary arterial hypertension
X-linked central congenital hypothyroidism with late-onset testicular enlargement

ACVRL1 IGSF1
BMPR2
CAV1
CBLN2
KCNK3
SMAD9
TBX4


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ACVRL1
(0.63)
IGSF1



Citations in the biomedical literature:


Heritable pulmonary arterial hypertension
ACVRL1 BMPR2 CAV1 CBLN2 KCNK3 SMAD9
TBX4
X-linked central congenital hypothyroidism with late-onset testicular enlargement
IGSF1



Heritable pulmonary arterial hypertension
X-linked central congenital hypothyroidism with late-onset testicular enlargement

Synonym(s):
- FPAH
- Familial pulmonary arterial hypertension
- Hereditary pulmonary arterial hypertension

Synonym(s):
- X-linked central congenital hypothyroidism with late-onset macroorchidism

Classification (Orphanet):
- Rare genetic disease
- Rare respiratory disease
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease

Classification (ICD10):
- Diseases of the circulatory system -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
Class of prevalence: unknown
Average age onset: variable
Average age of death: any age
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: x-linked recessive

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

No signs/symptoms info available.