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Multiple keratoacanthoma, Ferguson-Smith type
1 OMIM reference -
1 associated gene
65 connected diseases
No signs/symptoms info
Disease Type of connection
Familial thoracic aortic aneurysm and aortic dissection
Loeys-Dietz syndrome type 1
Hereditary hemorrhagic telangiectasia
Heritable pulmonary arterial hypertension
Generalized juvenile polyposis / juvenile polyposis coli
Pulmonary venoocclusive disease
Camurati-Engelmann disease
Cystic fibrosis
Hereditary nonpolyposis colon cancer
Marfan syndrome type 2
Familial cerebral saccular aneurysm
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
Familial pancreatic carcinoma
Myhre syndrome
Aneurysm - osteoarthritis syndrome
Berardinelli-Seip congenital lipodystrophy
Diffuse cutaneous systemic sclerosis
Limited cutaneous systemic sclerosis
Autosomal agammaglobulinemia
Idiopathic pulmonary arterial hypertension
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus
SHORT syndrome
Syndromic multisystem autoimmune disease due to Itch deficiency
1p36 deletion syndrome
Shprintzen-Goldberg syndrome
X-linked non-syndromic intellectual deficit
8p11.2 deletion syndrome
Congenital glaucoma
Familial isolated dilated cardiomyopathy
Hereditary spherocytosis
Juvenile glaucoma
Left ventricular noncompaction
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Peters anomaly
Congenital intrauterine infection-like syndrome
Duane retraction syndrome
Fanconi anemia
Infantile autosomal recessive medullary cystic kidney disease
Renal-hepatic-pancreatic dysplasia
Acute promyelocytic leukemia
Amish nemaline myopathy
Amyotrophic lateral sclerosis
Autosomal dominant nonsyndromic intellectual deficit
Autosomal recessive lymphoproliferative disease
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Autosomal recessive primary microcephaly
Brachydactyly type A2
Brachydactyly type C
Craniopharyngioma
Dedifferentiated liposarcoma
Desmoid tumor
Familial melanoma
Fibrodysplasia ossificans progressiva
Hepatocellular carcinoma, childhood-onset
Persistent Müllerian duct syndrome
Pilomatrixoma
Pulmonary capillary hemangiomatosis
Smith-McCort dysplasia
T-cell immunodeficiency with epidermodysplasia verruciformis
Walker-Warburg syndrome
Well-differentiated liposarcoma
X-linked lymphoproliferative disease
Synonym(s):
- ESS1
- MSSE
- Multiple self-healing squamous epithelioma
- Self-healing squamous epithelioma type 1
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
- Rare oncologic disease
- Rare skin disease
Classification (ICD10):
- Neoplasms -
Epidemiological data:
Class of prevalence: unknown
Average age onset: variable
Average age of death: normal
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
TGFBR1 P36897190181
No signs/symptoms info available.