Trichohepatoenteric Syndrome 1; Thes1

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 SyndromeTrichohepatoenteric syndrome-2 (THES2 ) is caused by mutation in the SKIV2L gene (OMIM ) on chromosome 6p21.

Clinical Features

Top most frequent phenotypes and symptoms related to Trichohepatoenteric Syndrome 1; Thes1

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Pica
  • Hypertelorism
  • Growth delay
  • Failure to thrive
  • Abnormal facial shape
  • Cognitive impairment
  • Anemia
And another 76 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


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Trichohepatoenteric Syndrome 1; Thes1 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 in United States.

SKIV2L
Specificity
100 %
Genes
50 %
SKIV2L.

By Institute for Human Genetics University Clinic Freiburg in Germany.

SKIV2L
Specificity
100 %
Genes
50 %
SKIV2L. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

SKIV2L
Specificity
100 %
Genes
50 %
Congenital Diarrhea Seq Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

EPCAM, CFTR, PCSK1, MTTP, FLNA, APOB, NEUROG3, SI, TTC37, SKIV2L, SAR1B, LCT, SLC5A1, PNLIP, SLC26A3, MYO5B, STX3, SLC9A3, DGAT1, GUCY2C , (...)

View the complete list with 1 more genes
Specificity
10 %
Genes
100 %
Congenital Diarrhea Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

EPCAM, CFTR, PCSK1, MTTP, FLNA, APOB, NEUROG3, SI, TTC37, SKIV2L, SAR1B, LCT, SLC5A1, PNLIP, SLC26A3, MYO5B, STX3, SLC9A3, DGAT1, GUCY2C , (...)

View the complete list with 1 more genes
Specificity
10 %
Genes
100 %
Congenital Diarrhea Seq + Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

EPCAM, CFTR, PCSK1, MTTP, FLNA, APOB, NEUROG3, SI, TTC37, SKIV2L, SAR1B, LCT, SLC5A1, PNLIP, SLC26A3, MYO5B, STX3, SLC9A3, DGAT1, GUCY2C , (...)

View the complete list with 1 more genes
Specificity
10 %
Genes
100 %
Trichohepatoenteric syndrome 2 (sequence analysis of SKIV2L gene).

By CGC Genetics in Portugal.

SKIV2L
Specificity
100 %
Genes
50 %
Trichohepatoenteric syndrome 2.

By Centogene AG - the Rare Disease Company in Germany.

SKIV2L
Specificity
100 %
Genes
50 %
SKIV2L.

By Fulgent Genetics Fulgent Genetics in United States.

SKIV2L
Specificity
100 %
Genes
50 %
Congenital Diarrhea Panel.

By Blueprint Genetics in Finland.

EPCAM, CYP27A1, LIPA, MVK, NCF2, NEUROG3, XIAP, IL10RA, SI, TTC37, TTC7A, SKIV2L, IL10RB, IL10, SAR1B, LCT, SLC5A1, SLC26A3, MYO5B, STX3 , (...)

View the complete list with 7 more genes
Specificity
8 %
Genes
100 %
Trichohepatoenteric syndrome 2.

By Bioarray in Spain.

SKIV2L
Specificity
100 %
Genes
50 %
TRICHO-HEPATO-ENTERIC SYNDROME/SYNDROMIC DIARRHEA.

By Laboratorio de Genetica Clinica SL in Spain.

TTC37, SKIV2L
Specificity
100 %
Genes
100 %
Trichohepatoenteric Syndrome Type 2 , Sequencing SKIV2L Gene.

By Reference Laboratory Genetics in Spain.

SKIV2L
Specificity
100 %
Genes
50 %
Trichohepatoenteric Syndrome ,Panel Massive Sequencing SKIV2L2,TTC37 Genes.

By Reference Laboratory Genetics in Spain.

TTC37, SKIV2L
Specificity
100 %
Genes
100 %
TTC37 Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

TTC37
Specificity
100 %
Genes
50 %
TTC37 Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

TTC37
Specificity
100 %
Genes
50 %
Phenotypic diarrhea (sequence analysis of TTC37 gene).

By CGC Genetics in Portugal.

TTC37
Specificity
100 %
Genes
50 %
Trichohepatoenteric syndrome 1.

By Centogene AG - the Rare Disease Company in Germany.

TTC37
Specificity
100 %
Genes
50 %
Early Onset Inflammatory Bowel Disease: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

PTEN, RET, SLC37A4, HPS1, HPS6, HPS4, CYBA, CYBB, DCLRE1C, WAS, BTK, MVK, FOXP3, MEFV, SH2D1A, NCF2, NCF4, AICDA, CD40LG, XIAP , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
50 %
Pan-Ethnic Carrier Screen: Gene Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

FMR1, HFE, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, CHM, TYR, SLC37A4 , (...)

View the complete list with 127 more genes
Specificity
1 %
Genes
50 %
Early Onset Inflammatory Bowel Disease: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

PTEN, RET, SLC37A4, HPS1, HPS6, HPS4, CYBA, CYBB, DCLRE1C, WAS, BTK, MVK, FOXP3, MEFV, SH2D1A, NCF2, NCF4, AICDA, CD40LG, XIAP , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
50 %
Intellectual Disability NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA2, F5, FMR1, MTHFR, TTR, UBE3A, PTEN, MCCC1, MCCC2, AGL, ACAT1, GYS2, ARG1, ATP7A, AUH, BCS1L, ADSL, FBLN5, LRP5, COL1A2 , (...)

View the complete list with 372 more genes
Specificity
1 %
Genes
50 %
TTC37.

By Fulgent Genetics Fulgent Genetics in United States.

TTC37
Specificity
100 %
Genes
50 %
Cholestasis Panel.

By Blueprint Genetics in Finland.

EPCAM, ABCB11, ABCB4, ATP8B1, TRMU, JAG1, NPHP3, NPHP1, NPHP4, SLC25A13, SMPD1, DGUOK, FAH, MKS1, CFTR, NPC1, NPC2, PEX2, SERPINA1, UGT1A1 , (...)

View the complete list with 26 more genes
Specificity
3 %
Genes
50 %
Tricho-hepato-enteric syndrome.

By Bioarray in Spain.

TTC37
Specificity
100 %
Genes
50 %
CarrierMap.

By Recombine in United States.

FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, PC, USH1C, ALPL, ARG1, HLCS, ATP7A, BTD, ATP7B, BCKDHA , (...)

View the complete list with 281 more genes
Specificity
1 %
Genes
50 %
Trichohepatoenteric Syndrome Type 1 , Sequencing TTC37 Gene.

By Reference Laboratory Genetics in Spain.

TTC37
Specificity
100 %
Genes
50 %
Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

HFE, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, TYR, SLC37A4, HSD17B4, CPT2 , (...)

View the complete list with 116 more genes
Specificity
1 %
Genes
50 %

Alternate names

Trichohepatoenteric Syndrome 1; Thes1 Is also known as the syndrome, diarrhea, syndromic, diarrhea, fatal infantile, with trichorrhexis nodosa;phenotypic diarrhea; sd/the; syndromic diarrhea/tricho-hepato-enteric syndrome; tricho-hepato-enteric syndrome; trichohepatoenteric syndrome.



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