Trichohepatoenteric Syndrome 2; Thes2

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 ).

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.


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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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