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Marfan syndrome type 2
1 OMIM reference -
1 associated gene
48 connected diseases
No signs/symptoms info
Disease Type of connection
Familial thoracic aortic aneurysm and aortic dissection
Loeys-Dietz syndrome type 1
Hereditary nonpolyposis colon cancer
Hereditary hemorrhagic telangiectasia
Familial cerebral saccular aneurysm
Generalized juvenile polyposis / juvenile polyposis coli
X-linked non-syndromic intellectual deficit
Multiple keratoacanthoma, Ferguson-Smith type
Camurati-Engelmann disease
Cystic fibrosis
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Peters anomaly
Heritable pulmonary arterial hypertension
Autosomal agammaglobulinemia
Autosomal dominant nonsyndromic intellectual deficit
Craniopharyngioma
Desmoid tumor
Hepatocellular carcinoma, childhood-onset
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus
Pilomatrixoma
SHORT syndrome
Blepharophimosis-intellectual deficit syndrome, MKB type
FG syndrome type 1
X-linked intellectual deficit with marfanoid habitus
Autosomal dominant hypohidrotic ectodermal dysplasia
Dyskeratosis congenita
Familial melanoma
Fibrodysplasia ossificans progressiva
Gastrointestinal stromal tumor
Hoyeraal-Hreidarsson syndrome
Idiopathic aplastic anemia
Idiopathic hypereosinophilic syndrome
Idiopathic pulmonary fibrosis
Myeloid neoplasm associated with PDGFRA rearrangement
Precursor B-cell acute lymphoblastic leukemia
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Acute promyelocytic leukemia
Aneurysm - osteoarthritis syndrome
Familial pancreatic carcinoma
Myhre syndrome
Synonym(s):
- Loeys-Dietz syndrome type 2
- MFS2
Classification (Orphanet):
- Rare circulatory system disease
- Rare genetic disease
- Rare surgical thoracic disease
- Rare systemic or rheumatologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: -
Average age onset: variable
Average age of death: any age
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
TGFBR2 P37173190182
No signs/symptoms info available.