English
ErkrankungGestörter Cobalamin-Metabolismus, Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Störungen im Cobalamin Metabolismus mit 9 bzw. 21 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
CP4527
Anzahl Gene
21
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
19,2 kb (Core-/Basis-Gene)
46,8 kb (Erweitertes Panel)
46,8 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 |
|---|---|---|---|
| ABCD4 | 1821 | AR | |
| HCFC1 | 6108 | XLR | |
| LMBRD1 | 1623 | AR und/oder Dig | |
| MMACHC | 849 | AR | |
| MMADHC | 891 | AR | |
| MTHFR | 1971 | AD und/oder AR und/oder Ass | |
| MTR | 3798 | AR und/oder Dig | |
| MTRR | 2097 | AR | |
| ACSF3 | 1731 | AR | |
| AMN | 1362 | AR | |
| CBLIF | 1254 | AR | |
| CBS | 1656 | AR | |
| CD320 | 849 | AR | |
| CUBN | 10872 | AR | |
| MMAA | 1257 | AR | |
| MMAB | 753 | AR | |
| MMUT | 2253 | AR | |
| SUCLA2 | 1392 | AR | |
| TCN2 | 1284 | AR | |
| THAP11 | 946 | AR | |
| ZNF143 | 1935 | AR |
Infos zur Erkrankung
Klinischer Kommentar
Störungen, die hauptsächlich isolierte Homocystinurie verursachen: CBS-Mangel (klassische Homocystinurie), MTHFR-Mangel
Störungen, die hauptsächlich Methylmalon-MUT-, MMAA-, MMAB-Gene verursachen; SUCLA2-Mangel; MMADHC
"benigne Methylmalonsäureämie", Reye-like-Syndrom, kombinierte malonische und Methylmalonsäureämie ACSF3 pathogene Varianten
Intrinsischer Faktor-Mangel, kongenitale perniziöse Anämie GIF-Gen
Synonyme
- Alias: Cobalamin-Stoffwechsel- und Transport-Störung
- Alias: Disorders of Intracellular Cobalamin Metabolism
- Allelic: Neural tube defects, folate-sensitive, susceptibility to (MTR, MTRR)
- Allelic: Neural tube defects, susceptibility to (MTHFR)
- Allelic: Schizophrenia, susceptibility to (MTHFR)
- Allelic: Thromboembolism, susceptibility to (MTHFR)
- Allelic: Thrombosis, hyperhomocysteinemic (CBS)
- Allelic: Vascular disease, susceptibility to (MTHFR)
- Combined malonic + methylmalonic aciduria (ACSF3)
- Disorder of intracellular cobalamin metabolism (THAP11, ZNF143)
- Homocystinuria due to MTHFR deficiency (MTHFR)
- Homocystinuria, B6-responsive + nonresponsive types (CBS)
- Homocystinuria, cblD type, variant 1 (MMADHC)
- Homocystinuria-megaloblastic anemia, cbl E type (MTRR)
- Homocystinuria-megaloblastic anemia, cblG complementation type (MTR)
- Imerslund-Grasbeck syndrome 1 (CUBN)
- Imerslund-Grasbeck syndrome 2 (AMN)
- Intrinsic factor deficiency (GIF syn. CBLIF)
- Mental retardation, XL 3; methylmalonic acidemia + homocysteinemia, cblX type (HCFC1)
- Methylmalonic aciduria + homocystinuria, cblC type (MMACHC)
- Methylmalonic aciduria + homocystinuria, cblC type, digenic (PRDX1)
- Methylmalonic aciduria + homocystinuria, cblD type (MMADHC)
- Methylmalonic aciduria + homocystinuria, cblF type (LMBRD1)
- Methylmalonic aciduria + homocystinuria, cblJ type (ABCD4)
- Methylmalonic aciduria, cblD type, variant 2 (MMHDAC)
- Methylmalonic aciduria, mut[0] type (MUT)
- Methylmalonic aciduria, transient, due to transcobalamin receptor defect (CD320)
- Methylmalonic aciduria, vitamin B12-responsive, cblA type (MMAA)
- Methylmalonic aciduria, vitamin B12-responsive, cblB type (MMAB)
- MtDNA depletion syndrome 5, encephalomyopathic with/-out methylmalonic aciduria (SUCLA2)
- Transcobalamin II deficiency (TCN2)
Erbgänge, Vererbungsmuster etc.
- AD und/oder AR und/oder Ass
- AR
- AR und/oder Dig
- XLR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
D51.2
Bioinformatik und klinische Interpretation
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