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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)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
AIRE1638AD und/oder AR
CTLA4525AD und/oder Ass
DCLRE1C2079AR
DOCK86300AR
FOXP31296XLR
RAG13132AR
RAG21584AR
STAT12253AD und/oder AR
STAT32313AD und/oder Mult
WAS1509XLR
ABCC84746AD und/oder AR
BACH22542AD
CASP101368AD und/oder Sus
EPCAM945AR und/oder SMu und/oder Sus
FAS1008AD und/oder SMu
FASLG846AD und/oder SMu
GATA61788AD
GCK1398AD und/oder AR
IL10RA1737AR
IL10RB978AR
IL2RA819AR
INS333AD und/oder AR
ITCH2712AR
KCNJ111173AD und/oder AR und/oder Ass
LRBA8556AR
MALT12475AR
MYO5B5547AR
PDX1852AD und/oder AR und/oder Dig und/oder Sus
PTF1A987AR
SKIC23741AR
SKIC34695AR
STAT5B2364AR
TTC7A2577AR

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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