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Loeys-Dietz syndrome type 1
2 OMIM references -
2 associated genes
83 connected diseases
29 signs/symptoms
Disease Type of connection
Familial thoracic aortic aneurysm and aortic dissection
Hereditary nonpolyposis colon cancer
Marfan syndrome type 2
Multiple keratoacanthoma, Ferguson-Smith type
Hereditary hemorrhagic telangiectasia
Generalized juvenile polyposis / juvenile polyposis coli
Heritable pulmonary arterial hypertension
Familial cerebral saccular aneurysm
X-linked non-syndromic intellectual deficit
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
Autosomal dominant hypohidrotic ectodermal dysplasia
Autosomal agammaglobulinemia
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus
Peters anomaly
SHORT syndrome
Familial pancreatic carcinoma
Myhre syndrome
Aneurysm - osteoarthritis syndrome
Autosomal dominant nonsyndromic intellectual deficit
Desmoid tumor
Hepatocellular carcinoma, childhood-onset
Pulmonary venoocclusive disease
Familial melanoma
Fibrodysplasia ossificans progressiva
Acute promyelocytic leukemia
Berardinelli-Seip congenital lipodystrophy
Diffuse cutaneous systemic sclerosis
Limited cutaneous systemic sclerosis
Idiopathic pulmonary arterial hypertension
Blepharophimosis-intellectual deficit syndrome, MKB type
FG syndrome type 1
X-linked intellectual deficit with marfanoid habitus
Syndromic multisystem autoimmune disease due to Itch deficiency
1p36 deletion syndrome
Shprintzen-Goldberg syndrome
8p11.2 deletion syndrome
Congenital glaucoma
Dyskeratosis congenita
Familial isolated dilated cardiomyopathy
Gastrointestinal stromal tumor
Hereditary spherocytosis
Hoyeraal-Hreidarsson syndrome
Idiopathic aplastic anemia
Idiopathic hypereosinophilic syndrome
Idiopathic pulmonary fibrosis
Juvenile glaucoma
Left ventricular noncompaction
Myeloid neoplasm associated with PDGFRA rearrangement
Precursor B-cell acute lymphoblastic leukemia
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Congenital intrauterine infection-like syndrome
Duane retraction syndrome
Fanconi anemia
Infantile autosomal recessive medullary cystic kidney disease
Renal-hepatic-pancreatic dysplasia
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
Amish nemaline myopathy
Amyotrophic lateral sclerosis
Autosomal recessive lymphoproliferative disease
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Autosomal recessive primary microcephaly
Brachydactyly type A2
Brachydactyly type C
Dedifferentiated liposarcoma
Persistent Müllerian duct syndrome
Pulmonary capillary hemangiomatosis
Smith-McCort dysplasia
T-cell immunodeficiency with epidermodysplasia verruciformis
Walker-Warburg syndrome
Well-differentiated liposarcoma
X-linked lymphoproliferative disease
- Aortic aneurysm syndrome due to TGF-beta receptors anomalies

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: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: no data available
Type of inheritance: autosomal dominant
External references:
2 OMIM references -
No MeSH references

Gene symbol UniProt reference OMIM reference
TGFBR1 P36897190181
TGFBR2 P37173190182
Very frequent
- Aortic dissection
- Aortic root dilatation / dilation / aneurysm
- Arterial aneurism (excluding aorta)
- Arterial rupture
- Autosomal dominant inheritance
- Flat foot
- High vaulted / narrow palate
- Palate anomalies
- Patent ductus arteriosus
- Uterine rupture

- Abnormal scarring / cheloids / hypertrophic scars
- Blue sclerae
- Camptodactyly of fingers
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Flat cheek bones / malar hypoplasia
- Long hand / arachnodactyly
- Marfanoid morphotype
- Micrognathia / retrognathia / micrognathism / retrognathism
- Scoliosis
- Striae
- Tall stature / gigantism / growth acceleration

- Collapse / sudden death / cardiac arrest / cardiorespiratory arrest
- Craniostenosis / craniosynostosis / sutural synostosis
- Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding
- Hyperextensible joints / articular hyperlaxity
- Joint dislocation / subluxation
- Pectus carinatum
- Pectus excavatum
- Thin skin