ErkrankungAutoimmun-hämolytische Anämie; Differentialdiagnose
Zusammenfassung
Kurzinformation
AP5611_KI
ID
AP5611
Anzahl Gene
22
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
3,3 kb (Core-/Basis-Gene)
28,0 kb (Erweitertes Panel)
28,0 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
AP5611_DH
Genpanel
Ausgewählte Gene
Name | Exon-Länge (bp) | OMIM-G | Erbgang |
---|---|---|---|
CASP10 | 1368 | AD und/oder Sus | |
FAS | 1008 | AD und/oder SMu | |
FASLG | 846 | AD und/oder SMu | |
AK1 | 585 | AR | |
BPGM | 780 | AR | |
CD40LG | 786 | XLR | |
ENO1 | 1026 | ||
FOXP3 | 1296 | XLR | |
G6PD | 1548 | XLD | |
GCLC | 1800 | AR | |
GPI | 1677 | AR | |
GPX1 | 612 | AR | |
GSR | 1569 | AR | |
GSS | 1425 | AR | |
HK1 | 2754 | AD und/oder AR | |
NT5C3A | 894 | AR | |
PGK1 | 1254 | XLR | |
PKLR | 1725 | AD und/oder AR | |
RHAG | 1230 | AD | |
SLC2A1 | 1479 | AD und/oder AR | |
TPI1 | 750 | AR | |
WAS | 1509 | XLR |
Infos zur Erkrankung
Klinischer Kommentar
illness_ClinicalComment_AP5611
Synonyme
- Adenosine triphosphate, elevated, of erythrocytes (PKLR)
- Alias: Autoimmune haemolytic anaemia, AIHA
- Allelic: Dystonia 9 (SLC2A1)
- Allelic: Epilepsy, idiopathic generalized, susceptibility to, 12 (SLC2A1)
- Allelic: Lung cancer, susceptibility to (FASLG)
- Allelic: Myocardial infarction, susceptibility to (GCLC)
- Allelic: Neurodevelopmental disorder with visual defects + brain anomalies (HK1)
- Allelic: Neuropathy, hereditary motor + sensory, Russe type (HK1)
- Allelic: Resistance to malaria due to G6PD deficiency (G6PD)
- Allelic: Retinitis pigmentosa 79 (HK1)
- Allelic: Stomatin-deficient cryohydrocytosis with neurologic defects (SLC2A1)
- Allelic: Wiskott-Aldrich syndrome (WAS)
- Anemia, hemolytic, Rh-null, regulator type (RHAG)
- Anemia, hemolytic, due to UMPH1 deficiency (NT5C3A)
- Autoimmune lymphoproliferative syndrome (FAS)
- Autoimmune lymphoproliferative syndrome, type IA (FAS)
- Autoimmune lymphoproliferative syndrome, type IB (FASLG)
- Autoimmune lymphoproliferative syndrome, type II (CASP10)
- Enolase alpha deficiency (ENO1)
- Erythrocytosis, familial, 8 (BPGM)
- GLUT1 deficiency syndrome 1, infantile onset, severe (SLC2A1)
- GLUT1 deficiency syndrome 2, childhood onset (SLC2A1)
- Glutathione synthetase deficiency (GSS)
- Hemolytic anemia due to adenylate kinase deficiency (AK1)
- Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency (GCLC)
- Hemolytic anemia due to glutathione peroxidase deficiency (GPX1)
- Hemolytic anemia due to glutathione reductase deficiency (GSR)
- Hemolytic anemia due to glutathione synthetase deficiency (GSS)
- Hemolytic anemia due to hexokinase deficiency (HK1)
- Hemolytic anemia due to triosephosphate isomerase deficiency (TPI1)
- Hemolytic anemia, G6PD deficient, favism (G6PD)
- Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency (GPI)
- Immunodeficiency, XL, with hyper-IgM (CD40LG)
- Immunodysregulation, polyendocrinopathy + enteropathy, XL (FOXP3)
- Neutropenia, severe congenital, XL (WAS)
- Overhydrated hereditary stomatocytosis (RHAG)
- Phosphoglycerate kinase 1 deficiency (PGK1)
- Pyruvate kinase deficiency (PKLR)
- Thrombocytopenia, XL (WAS)
- Thrombocytopenia, XL, intermittent (WAS)
Erbgänge, Vererbungsmuster etc.
- AD
- AD und/oder AR
- AD und/oder SMu
- AD und/oder Sus
- AR
- XLD
- XLR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
D58.8
Bioinformatik und klinische Interpretation
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