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Familial visceral myopathy
1 OMIM reference -
1 associated gene
26 signs/symptoms
PROTEIN INTERACTIONS: 1
Muir-Torre syndrome
1 OMIM reference -
3 associated genes
14 signs/symptoms
Familial visceral myopathy
Muir-Torre syndrome

ACTG2
(UniProt - OMIM)
 MLH1
(UniProt - OMIM)
MSH2
(UniProt - OMIM)
MSH6
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
ACTG2
(0.63)
MLH1


Citations in the biomedical literature:


Familial visceral myopathy
ACTG2
Muir-Torre syndrome
MLH1 MSH2 MSH6



Familial visceral myopathy
Muir-Torre syndrome

Synonym(s):
- Familial hollow visceral myopathy
- Hereditary hollow visceral myopathy
- Megaduodenum and/or megacystis
Synonym(s):
- Multiple keratoacanthoma, Muir-Torre type
Classification (Orphanet):
- Rare gastroenterologic disease
- Rare genetic disease
Classification (Orphanet):
- Rare eye disease
- Rare gastroenterologic disease
- Rare genetic disease
- Rare oncologic disease
- Rare skin disease
Classification (ICD10):
- Diseases of the digestive system -
Classification (ICD10):
- Neoplasms -
Epidemiological data:
Class of prevalence: unknown
Average age onset: variable
Average age of death: no data available
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D055653
Familial visceral myopathy
Muir-Torre syndrome

Very frequent
- Autosomal recessive inheritance
- Bladder and ureter anomalies
- Duodenal atresia / stenosis / megaduodenum
- Megaureter / hydronephrosis / pyeloureteral junction syndrome

Frequent
- Absent / hypotonic / flaccid abdominal wall muscles
- Stillbirth / neonatal death

Occasional
- Absent / small fingernails / anonychia of hands
- Anteverted nares / nostrils
- Broad forehead
- Camptodactyly of fingers
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Congenital cardiac anomaly / malformation / cardiopathy
- Dolichocolon / megacolon / megadolichocolon / Hirschsprung's disease
- High nasal bridge
- Hyperparathyroidy
- Long hand / arachnodactyly
- Low set ears / posteriorly rotated ears
- Microcephaly
- Micrognathia / retrognathia / micrognathism / retrognathism
- Microtia / cryptomicrotia / anotia / external auditory canal / pinnae aplasia / hypoplasia
- Narrow rib cage / thorax
- Restricted joint mobility / joint stiffness / ankylosis
- Round face
- Short bowel
- Situs inversus visceralis / colon / intestine trasposition / heterotaxia
- Umbilical hernia


Very frequent
- Adenoma sebaceum
- Autosomal dominant inheritance
- Skin tumors / lumps / epidermal cysts

Frequent
- Colon neoplasm / tumor / carcinoma / cancer
- Estomach / gastric neoplasm / tumor / carcinoma / cancer

Occasional
- Breast neoplasm / tumor / carcinoma / cancer
- Hematologic / blood / lymphatic cancer
- Hepatic / liver neoplasm / tumor / carcinoma / cancer
- Kidney / renal neoplasm / tumor / carcinoma / cancer
- Laryngeal neoplasm / tumor / carcinoma / cancer
- Ovary / Fallopian tube neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma)
- Salivary gland neoplasm / tumor / carcinoma / cancer
- Ureteral / urethral / vesical / bladder neoplasm / tumor / carcinoma / cancer
- Uterus / uterine / cervix / endometrium neoplasm / tumor / carcinoma / cancer