IllnessAutoimmun-hämolytische Anämie; Differentialdiagnose
Summary
Short information
AP5611_KI
ID
AP5611
Number of loci
Loci type | Count |
---|---|
Gen | 23 |
Examined sequence length
3,3 kb (Core-/Core-canditate-Genes)
28,5 kb (Extended panel: incl. additional genes)
28,5 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
AP5611_DH
Loci panel
Gen
Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
---|---|---|---|---|
CASP10 | 1368 | NM_001206524.2 | AD | |
FAS | 1008 | NM_000043.6 | AD | |
FASLG | 846 | NM_000639.3 | AD | |
AK1 | 585 | NM_000476.3 | AR | |
BPGM | 780 | NM_199186.3 | AR | |
CD40LG | 786 | NM_000074.3 | XLR | |
ENO1 | 1026 | NM_001201483.4 | n.k. | |
FOXP3 | 1296 | NM_014009.4 | XLR | |
G6PD | 1548 | NM_001042351.3 | XL | |
GCLC | 1800 | NM_001197115.2 | AR | |
GPI | 1677 | NM_000175.5 | AR | |
GPX1 | 612 | NM_000581.4 | AR | |
GSR | 1569 | NM_000637.5 | AR | |
GSS | 1425 | NM_000178.4 | AR | |
HK1 | 2754 | NM_000188.3 | AR | |
KRAS | 567 | NM_004985.5 | AD | |
NT5C3A | 894 | NM_016489.14 | AR | |
PGK1 | 1254 | NM_000291.4 | XLR | |
PKLR | 1725 | NM_000298.6 | AR | |
RHAG | 1230 | NM_000324.3 | AD | |
SLC2A1 | 1479 |
| NM_006516.4 | AD, AR |
TPI1 | 750 | NM_000365.6 | AR | |
WAS | 1509 | NM_000377.3 | XLR |
Informations about the disease
Clinical Comment
illness_ClinicalComment_AP5611
Synonyms
- Alias: Autoimmune haemolytic anaemia, AIHA
- Allelic: Celiac disease, susceptibility to, 3 (CTLA4)
- Allelic: Diabetes mellitus, insulin-dependent, 12 (CTLA4)
- Allelic: Dyschromatosis symmetrica hereditaria (ADAR)
- Allelic: Dystonia 9 (SLC2A1)
- Allelic: Epilepsy, idiopathic generalized, susceptibility to, 12 (SLC2A1)
- Allelic: Hashimoto thyroiditis (CTLA4)
- Allelic: Juvenile myelomonocytic leukemia (CBL)
- 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: Polymicrogyria [MONDO:0000087, panelapp] (ENO1)
- Allelic: Resistance to malaria due to G6PD deficiency (G6PD)
- Allelic: Retinitis pigmentosa 79 (HK1)
- Allelic: Stomatin-deficient cryohydrocytosis with neurologic defects (SLC2A1)
- Allelic: Systemic lupus erythematosus, susceptibility to (CTLA4)
- Allelic: Wiskott-Aldrich syndrome (WAS)
- Adenosine triphosphate, elevated, of erythrocytes (PKLR)
- Aicardi-Goutieres syndrome 6 (ADAR)
- 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)
- Cardiofaciocutaneous syndrome 2 (KRAS)
- Combined cellular and humoral immune defects with granulomas (RAG1)
- Cytopenias and congenital anaemias (ENO1)
- 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)
- Immune dysregulation with autoimmunity, immunodeficiency, lymphoproliferation (CTLA4)
- Immunodeficiency 14A, AD (PIK3CD)
- Immunodeficiency 14B, AR (PIK3CD)
- Immunodeficiency, XL, with hyper-IgM (CD40LG)
- Immunodeficiency, common variable, 8, with autoimmunity (LRBA)
- Immunodysregulation, polyendocrinopathy + enteropathy, XL (FOXP3)
- Neutropenia, severe congenital, XL (WAS)
- Noonan syndrome 3 (KRAS)
- Noonan syndrome-like disorder +/- juvenile myelomonocytic leukemia (CBL)
- Omenn syndrome (RAG1)
- Overhydrated hereditary stomatocytosis (RHAG)
- Phosphoglycerate kinase 1 deficiency (PGK1)
- Pyruvate kinase deficiency (PKLR)
- RAS-associated autoimmune leukoproliferative disorder (KRAS)
- Roifman-Chitayat syndrome, digenic (PIK3CD)
- Severe combined immunodeficiency, B cell-negative (RAG1)
- Thrombocytopenia, XL (WAS)
- Thrombocytopenia, XL, intermittent (WAS)
- a/b T-cell lymphopenia with g/d T-cell expansion, severe CMV infection/autoimmunity (RAG1)
Heredity, heredity patterns etc.
- AD
- AR
- XL
- XLR
- n.k.
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined