Trichohepatoenteric Syndrome 2; Thes2

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

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).For a discussion of genetic heterogeneity of trichohepatoenteric syndrome, see THES1 (OMIM ).

Genes related to Trichohepatoenteric Syndrome 2; Thes2

SKIV2L

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Clinical Features

Top most frequent phenotypes and symptoms related to Trichohepatoenteric Syndrome 2; Thes2

Growth delay
Hypertelorism
Failure to thrive
Abnormal facial shape
Anemia
Depressed nasal bridge
Hepatomegaly
Wide nasal bridge
Intrauterine growth retardation
Diarrhea

And another 22 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Trichohepatoenteric Syndrome 2; Thes2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
SKIV2L Sequencing. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). SKIV2L Specificity 100 % Genes 100 %
SKIV2L. By Institute for Human Genetics University Clinic Freiburg (Germany). SKIV2L Specificity 100 % Genes 100 %
SKIV2L. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). SKIV2L Specificity 100 % Genes 100 %
Congenital Diarrhea Seq Analysis. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States). SAR1B, SI, SKIV2L, SLC5A1, SLC9A3, SPINT2, STX3, EPCAM, NEUROG3, CFTR, TTC37, DGAT1, SLC26A3, FLNA, GUCY2C, LCT, MTTP, MYO5B, PCSK1, PNLIP Specificity 5 % Genes 100 %
Congenital Diarrhea Del/Dup Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States). SAR1B, SI, SKIV2L, SLC5A1, SLC9A3, SPINT2, STX3, EPCAM, NEUROG3, CFTR, TTC37, DGAT1, SLC26A3, FLNA, GUCY2C, LCT, MTTP, MYO5B, PCSK1, PNLIP Specificity 5 % Genes 100 %
Congenital Diarrhea Seq + Del/Dup Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States). SAR1B, SI, SKIV2L, SLC5A1, SLC9A3, SPINT2, STX3, EPCAM, NEUROG3, CFTR, TTC37, DGAT1, SLC26A3, FLNA, GUCY2C, LCT, MTTP, MYO5B, PCSK1, PNLIP Specificity 5 % Genes 100 %
Trichohepatoenteric syndrome 2 (sequence analysis of SKIV2L gene). By CGC Genetics (Portugal). SKIV2L Specificity 100 % Genes 100 %
Trichohepatoenteric syndrome 2. By Centogene AG - the Rare Disease Company (Germany). SKIV2L Specificity 100 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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