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Marfan syndrome type 2
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Heritable pulmonary arterial hypertension
7 associated genes
No signs/symptoms info
Marfan syndrome type 2
Heritable pulmonary arterial hypertension

TGFBR2
(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)
TGFBR2
(0.82)
ACVRL1


Citations in the biomedical literature:


Marfan syndrome type 2
TGFBR2
Heritable pulmonary arterial hypertension
ACVRL1 BMPR2 CAV1 CBLN2 KCNK3 SMAD9
TBX4



Marfan syndrome type 2
Heritable pulmonary arterial hypertension

Synonym(s):
- Loeys-Dietz syndrome type 2
- MFS2
Synonym(s):
- FPAH
- Familial pulmonary arterial hypertension
- Hereditary pulmonary arterial hypertension
Classification (Orphanet):
- Rare circulatory system disease
- Rare genetic disease
- Rare surgical thoracic disease
- Rare systemic or rheumatologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare respiratory disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the circulatory system -
Epidemiological data:
Class of prevalence: -
Average age onset: variable
Average age of death: any age
Type of inheritance: autosomal dominant
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.