Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Trichohepatoenteric syndrome

Trichohepatoenteric syndrome is an autosomal recessive disorder caused by mutations of the TTC37 (type 1) and SKIV2L (type 2) genes. It is characerized by intrauterine growth retardation, wolly hair due to Trichorrhexis nodosa, facial dysmorphism, immunodeficiency, and first of all intractable diarrhea which requires parental nutrition early on. Hepathic involvement is mainly responsible for the poor prognosis in some patients.

Epidemiology

The prevalence of the whole group is less than 1:1,000,000.

Systematic

Hereditary liver disease
Aceruloplasminemia/Hypoceruloplasminemia
Budd-Chiari syndrome
Caroli disease
Fabry disease
Genetic hyperbilirubinemia
Hemochromatosis
Hepatitis B susceptibility
Hepatocellular carcinoma
Ivemark syndrome
Polycystic liver disease
Trichohepatoenteric syndrome
Trichohepatoenteric syndrome 1
TTC37
Trichohepatoenteric syndrome 2
SKIV2L

References:

1.

Fabre A et al. (2012) SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome.

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2.

None () ////

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3.

Fabre A et al. (2011) Novel mutations in TTC37 associated with tricho-hepato-enteric syndrome.

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4.

Goulet OJ et al. (1998) Syndrome of intractable diarrhoea with persistent villous atrophy in early childhood: a clinicopathological survey of 47 cases.

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5.

Egritas O et al. (2009) Tricho-hepato-enteric syndrome presenting with mild colitis.

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6.

Stankler L et al. (1982) Unexplained diarrhoea and failure to thrive in 2 siblings with unusual facies and abnormal scalp hair shafts: a new syndrome.

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7.

Girault D et al. (1994) Intractable infant diarrhea associated with phenotypic abnormalities and immunodeficiency.

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8.

Verloes A et al. (1997) Tricho-hepato-enteric syndrome: further delineation of a distinct syndrome with neonatal hemochromatosis phenotype, intractable diarrhea, and hair anomalies.

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9.

Landers MC et al. () Intractable diarrhea of infancy with facial dysmorphism, trichorrhexis nodosa, and cirrhosis.

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10.

Barabino AV et al. (2004) "Syndromic diarrhea" may have better outcome than previously reported.

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11.

Dweikat I et al. (2007) Tricho-hepato-enteric syndrome: a case of hemochromatosis with intractable diarrhea, dysmorphic features, and hair abnormality.

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12.

Fabre A et al. (2007) Intractable diarrhea with "phenotypic anomalies" and tricho-hepato-enteric syndrome: two names for the same disorder.

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Update: Aug. 14, 2020
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