Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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Trichohepatoenteric syndrome 1

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

Epidemiology

The prevalence of all trichohepatoenteric syndromes is less than 1:1,000,000.

Systematic

Trichohepatoenteric syndrome
Trichohepatoenteric syndrome 1
TTC37
Trichohepatoenteric syndrome 2

References:

1.

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2.

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

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3.

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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4.

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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5.

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

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6.

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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7.

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

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8.

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

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9.

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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10.

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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