ErkrankungDarmversagen / Diarrhoe, Differentialdiagnose

NGS +

illness_ClinicalComment_DP6658

• 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)