IllnessTricho-hepato-enteric syndrome, differential diagnosis

Summary

Short information

Comprehensive differential diagnosis panel with 3 core candidate genes and altogether 6 curated single gene sequence analyses according to the clinical suspicion Tricho-hepato-enteric syndrome

TP2232

Number of genes

5 Accredited laboratory test

Examined sequence length

6,4 kb (Core-/Core-canditate-Genes)
9,2 kb (Extended panel: incl. additional genes)

Analysis Duration

on request

Material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS +

Gene panel

Selected genes

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
SKIC2	3741	600478	NM_006929.5	AR
TTC7A	2577	609332	NM_020458.4	AR
EPCAM	945	185535	NM_002354.3	AR
FOXP3	1296	300292	NM_014009.4	XLR
SPINT2	588	605124	NM_001166103.2	AR

Informations about the disease

Synonyms

Phänotypische Diarrhoe SD/THE
Sy: Intractable diarrhea, woolly hair, intraut. growth restr., face dysmorphism, short stature
Alias: Congenital diarrhea
Alias: Familial Diarrhea
Alias: Syndromale Diarrhoe
Alias: Tricho-hepato-enterisches Syndrom
Allelic: Colorectal cancer, hereditary nonpolyposis, type 8 (EPCAM)
Diarrhea 3, secretory sodium, congenital, syndromic (SPINT2)
Diarrhea 5, with tufting enteropathy, congenital (EPCAM)
Gastrointestinal defects + immunodeficiency syndrome (TTC7A)
Immunodysregulation, polyendocrinopathy + enteropathy, XL (FOXP3)
Trichohepatoenteric syndrome 1 (SKIC3)
Trichohepatoenteric syndrome 2 (SKIV2L)

Heredity, heredity patterns etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatics and clinical interpretation

No text defined