Trichohepatoenteric syndrome 1

Preferred Label : Trichohepatoenteric syndrome 1;

Symbol : THES1;

CISMeF acronym : THES1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Diarrhea, syndromic; The syndrome; Diarrhea, fatal infantile, with trichorrhexis nodosa;

Description : Although the spectrum of phenotypic expression in trichohepatoenteric syndrome (THES) is broad, the characteristic features include intrauterine growth retardation, woolly hair, facial dysmorphism, intractable diarrhea in infancy requiring total parenteral nutrition, and immunodepression. Hepatic involvement contributes to the poor prognosis of affected patients (summary by Fabre et al., 2007). - Genetic Heterogeneity of Trichohepatoenteric Syndrome Trichohepatoenteric syndrome-2 (THES2; 614602) is caused by mutation in the SKIV2L gene (600478) on chromosome 6p21.3.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the tetratricopeptide repeat domain 37 gene (TTC37, 614589.0001);

Laboratory abnormalities : Hypoalbuminemia; Galactosuria without galactosemia; Hypermethioninemia, progressive; Increased serum methionine (reported in 2 cases); Abnormal serum liver enzyme levels; Elevated ferritin; Decreased transferrin Increased serum iron;

Prefixed ID : #222470;

Details

Origin ID

222470;

UMLS CUI

C4551982;

Automatic exact mappings (from CISMeF team)
- Adverse Event Associated with Syndromes [NCIt concept]
- Antisynthetase syndrome [ORDO Disease]
- Genetic Syndrome Associated with Congenital Heart Defect [NCIt concept]
- Syndromic diarrhoea [ICD-11 Subcategory]
- syndrome [DO Concept]
- syndromic [Radlex concept]
- trichohepatoenteric syndrome [DO Concept]
- trichohepatoenteric syndrome [MeSH concept]
- trichohepatoenteric syndrome 1 [DO Concept]
Currated CISMeF NLP mapping
- Syndromic diarrhea [ORDO Disease]
- Trichohepatoenteric syndrome (disorder) [SNOMED CT concept]
- trichohepatoenteric syndrome [MeSH Supplementary Concept]
DO Cross reference
- trichohepatoenteric syndrome 1 [DO Concept]
False automatic mappings
- Disease (disorder) [SNOMED CT concept]
- Syndrome [NCIt concept]
- syndrome [MeSH Descriptor]
- syndrome [MeSH concept]
Genes related to phenotype
- Ski3 subunit of superkiller complex [OMIM gene]
HPO term(s)
- Abnormalities of placenta or umbilical cord [HPO term]
- Abnormality of iron homeostasis [HPO term]
- Abnormality of the immune system [HPO term]
- Abnormality of the pancreas [HPO term]
- Anteverted nares [HPO term]
- Aortic regurgitation [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bifid uvula [HPO term]
- Brittle hair [HPO term]
- Cholestasis [HPO term]
- Cirrhosis [HPO term]
- Cognitive impairment [HPO term]
- Curly hair [HPO term]
- Depressed nasal ridge [HPO term]
- Diarrhea [HPO term]
- Downslanted palpebral fissures [HPO term]
- Failure to thrive [HPO term]
- Fine hair [HPO term]
- Frontal bossing [HPO term]
- Galactosuria [HPO term]
- Hepatic failure [HPO term]
- Hepatic fibrosis [HPO term]
- Hepatomegaly [HPO term]
- Hypermethioninemia [HPO term]
- Hypertelorism [HPO term]
- Hypoalbuminemia [HPO term]
- Hypospadias [HPO term]
- Increased mean platelet volume [HPO term]
- Increased serum iron [HPO term]
- Intractable diarrhea [HPO term]
- Intrauterine growth retardation [HPO term]
- Jaundice [HPO term]
- Large placenta [HPO term]
- Long philtrum [HPO term]
- Low-set ears [HPO term]
- Microtia [HPO term]
- Narrow mouth [HPO term]
- Neurodevelopmental delay [HPO term]
- Polyhydramnios [HPO term]
- Poorly formed pinnae [HPO term]
- Prominent eyes [HPO term]
- Prominent forehead [HPO term]
- Proptosis [HPO term]
- Pulmonic stenosis [HPO term]
- Renal cortical microcysts [HPO term]
- Shallow orbital ridges [HPO term]
- Short stature [HPO term]
- Small for gestational age [HPO term]
- Small, downturned mouth [HPO term]
- Sparse hair [HPO term]
- Sparse, fine hair [HPO term]
- Tetralogy of Fallot [HPO term]
- Thin hair [HPO term]
- Thrombocytosis [HPO term]
- Trichorrhexis nodosa [HPO term]
- Underdeveloped supraorbital ridges [HPO term]
- Upturned nose [HPO term]
- Ventricular septal defect [HPO term]
- Villous atrophy [HPO term]
- Wide mouth [HPO term]
- Wide nose [HPO term]
- Woolly hair [HPO term]
Not associated HPO term(s)
- Hypergalactosemia [HPO term]
ORDO concept(s)
- Syndromic diarrhea [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Syndromic diarrhea [ORDO Disease]
- Trichohepatoenteric syndrome (disorder) [SNOMED CT concept]
- trichohepatoenteric syndrome [MeSH Supplementary Concept]
- trichohepatoenteric syndrome [MeSH concept]

Keyword's position in hierarchy(ies) :

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