ErkrankungIPEX-Syndrom, Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für IPEX-Syndrom, Differentialdiagnose, mit 10 Leitlinien-kuratierten bzw. zusammen genommen 33 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
IP0511
Anzahl Gene
33
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
22,7 kb (Core-/Basis-Gene)
76,9 kb (Erweitertes Panel)
76,9 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 |
---|---|---|---|
AIRE | 1638 | AD und/oder AR | |
CTLA4 | 525 | AD und/oder Ass | |
DCLRE1C | 2079 | AR | |
DOCK8 | 6300 | AR | |
FOXP3 | 1296 | XLR | |
RAG1 | 3132 | AR | |
RAG2 | 1584 | AR | |
STAT1 | 2253 | AD und/oder AR | |
STAT3 | 2313 | AD und/oder Mult | |
WAS | 1509 | XLR | |
ABCC8 | 4746 | AD und/oder AR | |
BACH2 | 2542 | AD | |
CASP10 | 1368 | AD und/oder Sus | |
EPCAM | 945 | AR und/oder SMu und/oder Sus | |
FAS | 1008 | AD und/oder SMu | |
FASLG | 846 | AD und/oder SMu | |
GATA6 | 1788 | AD | |
GCK | 1398 | AD und/oder AR | |
IL10RA | 1737 | AR | |
IL10RB | 978 | AR | |
IL2RA | 819 | AR | |
INS | 333 | AD und/oder AR | |
ITCH | 2712 | AR | |
KCNJ11 | 1173 | AD und/oder AR und/oder Ass | |
LRBA | 8556 | AR | |
MALT1 | 2475 | AR | |
MYO5B | 5547 | AR | |
PDX1 | 852 | AD und/oder AR und/oder Dig und/oder Sus | |
PTF1A | 987 | AR | |
SKIC2 | 3741 | AR | |
SKIC3 | 4695 | AR | |
STAT5B | 2364 | AR | |
TTC7A | 2577 | AR |
Infos zur Erkrankung
Klinischer Kommentar
illness_ClinicalComment_IP0511
Synonyme
- Alias: Autoimmune enteropathy type 1
- Alias: Autoimmunity-immunodeficiency syndrome, XL
- Alias: Diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhea
- Alias: Diarrhea, polyendocinopathy, fatal infection syndrome, XL
- Alias: Enteropathy, autoimmune, with hemolytiv anemia + polyendocrinopathy
- Alias: IDDM-secretory diarrhea syndrome
- Alias: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
- Alias: Polyendocrinopathy, immune dysfunction + diarrhea, XL; XPID
- Alias: XL autoimmunity-allergic dysregulation syndrome
- Allelic: Atrial septal defect 9 (GATA6)
- Allelic: Atrioventricular septal defect 5 (GATA6)
- Allelic: Celiac disease, susceptibility to, 3 (CTLA4)
- Allelic: Colorectal cancer, hereditary nonpolyposis, type 8 (EPCAM)
- Allelic: Diabetes mellitus, insulin-dependent, 12 (CTLA4)
- Allelic: Diabetes mellitus, noninsulin-dependent, late onset (GCK)
- Allelic: Diabetes mellitus, transient neonatal 2 (ABCC8)
- Allelic: Diabetes mellitus, transient neonatal 3 (KCNJ11)
- Allelic: Diabetes mellitus, type 2, susceptibility to (KCNJ11)
- Allelic: Diabetes mellitus, type II, susceptibility to (PDX1)
- Allelic: Diabetes, mellitus, insulin-dependent, susceptibility to, 10 (IL2RA)
- Allelic: Hashimoto thyroiditis (CTLA4)
- Allelic: Hepatitis B virus, susceptibility to (IL10RB)
- Allelic: Lung cancer, susceptibility to FASLG)
- Allelic: MODY, type II (GCK)
- Allelic: MODY, type IV (PDX1)
- Allelic: Maturity-onset diabetes of the young, type 10 (INS)
- Allelic: Maturity-onset diabetes of the young, type 13 (KCNJ11)
- Allelic: Persistent truncus arteriosus (GATA6)
- Allelic: Systemic lupus erythematosus, susceptibility to (CTLA4)
- Allelic: Tetralogy of Fallot (GATA6)
- Autoimmune disease, multisystem, infantile-onset, 1 (STAT3)
- Autoimmune disease, multisystem, with facial dysmorphism (ITCH)
- Autoimmune lymphoproliferative syndrome, type IA (FAS)
- Autoimmune lymphoproliferative syndrome, type IB (FASLG)
- Autoimmune lymphoproliferative syndrome, type II (CASP10)
- Autoimmune polyendocrinopathy syndrome , type I, with/-out reversible metaphyseal dysplasia (AIRE)
- Combined cellular + humoral immune defects with granulomas (RAG1, RAG2)
- Diabetes mellitus, insulin-dependent, 2 (INS)
- Diabetes mellitus, noninsulin-dependent (ABCC8)
- Diabetes mellitus, permanent neonatal 1 (GCK)
- Diabetes mellitus, permanent neonatal 3, with/-out neurologic features (ABCC8)
- Diabetes mellitus, permanent neonatal 4 (INS)
- Diabetes, permanent neonatal 2, with/-out neurologic features (KCNJ11)
- Diarrhea 2, with microvillus atrophy (MYO5B)
- Diarrhea 5, with tufting enteropathy, congenital (EPCAM)
- Gastrointestinal defects + immunodeficiency syndrome (TTC7A)
- Growth hormone insensitivity with immune dysregulation 1, AR (STAT5B)
- Growth hormone insensitivity with immune dysregulation 2, AD (STAT5B)
- Hyper-IgE recurrent infection syndrome (STAT3)
- Hyper-IgE recurrent infection syndrome, AR (DOCK8)
- Hyperinsulinemic hypoglycemia, familial, 1 (ABCC8)
- Hyperinsulinemic hypoglycemia, familial, 2 (KCNJ11)
- Hyperinsulinemic hypoglycemia, familial, 3 (GCK)
- Hyperproinsulinemia (INS)
- Hypoglycemia of infancy, leucine-sensitive (ABCC8)
- IDDM-Secretory diarrhea syndrome; DMSD
- Immune dysregulation with autoimmunity, immunodeficiency + lymphoproliferation (CTLA4)
- Immune dysregulation-polyendocrinopathy-enteropathy-XL syndrome (FOXP3)
- Immunodeficiency 12 (MALT1)
- Immunodeficiency 31A, mycobacteriosis, AD (STAT1)
- Immunodeficiency 31B, mycobacterial + viral infections, AR (STAT1)
- Immunodeficiency 31C, chronic mucocutaneous candidiasis, AD (STAT1)
- Immunodeficiency 41 with lymphoproliferation + autoimmunity (IL2RA)
- Immunodeficiency 60 (BACH2)
- Immunodeficiency, common variable, 8, with autoimmunity (LRBA)
- Immunodysregulation, polyendocrinopathy, enteropathy, XL (FOXP3)
- Inflammatory bowel disease 25, early onset, (IL10RB)
- Inflammatory bowel disease 28, early onset, AR (IL10RA)
- Neutropenia, severe congenital, XL (WAS)
- Omenn syndrome (DCLRE1C, RAG1, RAG2)
- Pancreatic + cerebellar agenesis (PTF1A)
- Pancreatic agenesis + congenital heart defects (GATA6)
- Pancreatic agenesis 1 (PDX1)
- Pancreatic agenesis 2 (PTF1A)
- Severe combined immunodeficiency, Athabascan type (DCLRE1C)
- Severe combined immunodeficiency, B cell-negative (RAG1, RAG2)
- Thrombocytopenia, XL (WAS)
- Thrombocytopenia, XL, intermittent (WAS)
- Trichohepatoenteric syndrome 1 (TTC37)
- Trichohepatoenteric syndrome 2 (SKIV2L)
- Wiskott-Aldrich syndrome (WAS)
- a/b T-cell lymphopenia + g/d T-cell expansion, severe cytomegalovirus infection, autoimmunity (RAG1)
Erbgänge, Vererbungsmuster etc.
- AD
- AD und/oder AR
- AD und/oder AR und/oder Ass
- AD und/oder AR und/oder Dig und/oder Sus
- AD und/oder Ass
- AD und/oder Mult
- AD und/oder SMu
- AD und/oder Sus
- AR
- AR und/oder SMu und/oder Sus
- XLR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
E31.0
Bioinformatik und klinische Interpretation
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