Trichohepatoenteric syndrome 2

Preferred Label : Trichohepatoenteric syndrome 2;

Symbol : THES2;

CISMeF acronym : THES2;

Type : Phenotype, molecular basis known;

Description : Trichohepatoenteric syndrome (THES) is a rare and severe disease characterized by intrauterine growth retardation, facial dysmorphism, hair abnormalities, intractable diarrhea, and immunodeficiency (summary by Fabre et al., 2012). - Genetic Heterogeneity of Trichohepatoenteric Syndrome For a discussion of genetic heterogeneity of trichohepatoenteric syndrome, see THES1 (222470).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the superkiller viralicidic activity 2-like, S. cerevisiae homolog gene (SKIV2L, 600478.0001);

Laboratory abnormalities : Decreased serum iron (in some patients);

Prefixed ID : #614602;

Details

Origin ID

614602;

UMLS CUI

C3281289;

Automatic exact mappings (from CISMeF team)
- SKIC2 wt Allele [NCIt concept]
- trichohepatoenteric syndrome 2 [DO Concept]
DO Cross reference
- trichohepatoenteric syndrome 2 [DO Concept]
Genes related to phenotype
- Ski2 subunit of superkiller complex [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Brittle hair [HPO term]
- Cirrhosis [HPO term]
- Colitis [HPO term]
- Decreased serum iron [HPO term]
- Diarrhea [HPO term]
- Failure to thrive [HPO term]
- Hepatitis [HPO term]
- Hepatomegaly [HPO term]
- Hypertelorism [HPO term]
- Immunodeficiency [HPO term]
- Intrauterine growth retardation [HPO term]
- Pili canaliculi [HPO term]
- Prominent forehead [HPO term]
- Small for gestational age [HPO term]
- Sparse hair [HPO term]
- Trichorrhexis nodosa [HPO term]
- Uncombable hair [HPO term]
- Villous atrophy [HPO term]
- Wide nose [HPO term]
- Woolly hair [HPO term]
ORDO concept(s)
- Syndromic diarrhea [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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