ErkrankungDarmversagen / Diarrhoe, Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Darmversagen/ Diarrhoe mit 10 bzw. insgesamt 21 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
DP6658
Anzahl Gene
18
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
26,8 kb (Core-/Basis-Gene)
46,0 kb (Erweitertes Panel)
46,0 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
Genpanel
Ausgewählte Gene
Name | Exon-Länge (bp) | OMIM-G | Erbgang |
---|---|---|---|
DGAT1 | 1467 | AR | |
EPCAM | 945 | AR und/oder SMu und/oder Sus | |
GUCY2C | 3222 | AD und/oder AR | |
MYO5B | 5547 | AR | |
SKIC2 | 3741 | AR | |
SKIC3 | 4695 | AR | |
SLC26A3 | 2295 | AR | |
SLC9A3 | 2505 | AR | |
SPINT2 | 588 | AR | |
STXBP2 | 1773 | AR | |
ANO1 | 3232 | AR | |
CLMP | 1122 | AR | |
FLNA | 7920 | XL | |
FOXP3 | 1296 | XLR | |
NEUROG3 | 645 | AR | |
PLVAP | 1335 | AR | |
STX3 | 1048 | AR | |
TTC7A | 2577 | AR |
Infos zur Erkrankung
Klinischer Kommentar
illness_ClinicalComment_DP6658
Synonyme
- Alias: Chronischer Durchfall beim Kleinkind
- Alias: Congenital short bowel syndrome
- Alias: Familial Diarrhea
- Alias: Familiäre Diarrhoe
- Alias: Kongenitales Kurzdarmsyndrom
- Alias: [Angeborene] Durchfallerkrankung
- Alias: [Congenital] diarrheal disorder
- Allelic: Cardiac valvular dysplasia, XL (FLNA)
- Allelic: Colorectal cancer, hereditary nonpolyposis, type 8 (EPCAM)
- Allelic: FG syndrome 2 (FLNA)
- Allelic: Frontometaphyseal dysplasia 1 (FLNA)
- Allelic: Heterotopia, periventricular, 1 (FLNA)
- Allelic: Intestinal pseudoobstruction, neuronal (FLNA)
- Allelic: Melnick-Needles syndrome (FLNA)
- Allelic: Otopalatodigital syndrome, type I (FLNA)
- Allelic: Otopalatodigital syndrome, type II (FLNA)
- Allelic: Terminal osseous dysplasia (FLNA)
- Congenital short bowel syndrome (CLMP)
- Congenital short bowel syndrome (FLNA)
- Diarrhea 1, secretory chloride, congenital (SLC26A3)
- Diarrhea 10, protein-losing enteropathy type (PLVAP)
- Diarrhea 11, malabsorptive, congenital (PERCC1; Int. Control Region deletion)
- Diarrhea 12, with microvillus atrophy (STX3)
- Diarrhea 2, with microvillus atrophy, with/-out cholestasis (MYO5B)
- Diarrhea 3, secretory sodium, congenital, syndromic (SPINT2)
- Diarrhea 4, malabsorptive, congenital (NEUROG3)
- Diarrhea 5, with tufting enteropathy, congenital (EPCAM)
- Diarrhea 6 (GUCY2C)
- Diarrhea 7, protein-losing enteropathy type (DGAT1)
- Diarrhea 8, secretory sodium, congenital (SLC9A3)
- Diarrhea 9 (WNT2B)
- Enterokinase deficiency (TMPRSS15)
- Gastrointestinal defects and immunodeficiency syndrome (TTC7A)
- Hemophagocytic lymphohistiocytosis, familial, 5 (STXBP2)
- Immunodysregulation, polyendocrinopathy + enteropathy, XL (FOXP3)
- Impaired intestinal peristalsis, haemorrhagic diarrhoea, dysmorphic features [panelapp] (ANO1)
- MEDNIK [MR, Enteropathy, Deaf, periph. Neuropathy, Ichthyosis, Keratoderma] syndrome (WNT2B)
- Meconium ileus (GUCY2C)
- Microvillus inclusion disease (MYO5B)
- Microvillus inclusion disease; diarrheal disorder [MONDO} (STX3)
- Retinal dystrophy + microvillus inclusion disease (STX3)
- Trichohepatoenteric syndrome 1 (TTC37)
- Trichohepatoenteric syndrome 2 (SKIV2L)
Erbgänge, Vererbungsmuster etc.
- AD und/oder AR
- AR
- AR und/oder SMu und/oder Sus
- XL
- XLR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
P78.3
Bioinformatik und klinische Interpretation
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