English
Klinische FragestellungMethylmalonazidämie ohne Homocystinurie, Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Methylmalonazidämie ohne Homocystinurie mit 4 Leitlinien-kuratierten "core"-Genen, 7 Leitlinien-erwähnten "core candidate"-Genen bzw. zusammen genommen 27 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
MP1772
Anzahl Gene
14
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
8,3 kb (Core-/Core-canditate-Gene)
22,5 kb (Erweitertes Panel: inkl. additional genes)
22,5 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
Genpanel
Ausgewählte Gene
| Name | Exon-Länge (bp) | OMIM-G | Referenz-Seq. | Erbgang |
|---|---|---|---|---|
| ACSF3 | 1731 | NM_001127214.4 | AR | |
| MCEE | 531 | NM_032601.4 | AR | |
| MMAA | 1257 | NM_172250.3 | AR | |
| MMAB | 753 | NM_052845.4 | AR | |
| MMACHC | 849 | NM_015506.3 | AR, digenisch | |
| MMADHC | 891 | NM_015702.3 | AR | |
| MMUT | 2253 | NM_000255.4 | AR | |
| ABCD4 | 1821 | NM_005050.4 | AR | |
| CD320 | 849 | NM_016579.4 | AR | |
| HCFC1 | 6108 | NM_005334.3 | XLR | |
| LMBRD1 | 1623 | NM_018368.4 | AR | |
| SUCLA2 | 1392 | NM_003850.3 | AR | |
| SUCLG1 | 1041 | NM_003849.4 | AR | |
| SUCLG2 | 1323 | NM_001177599.2 | AR |
Infos zur Erkrankung
Synonyme
- Alias: Isolated methylmalonic aciduria/acidemia
- Alias: Methylmalonazidurie ohne Homocystinurie
- Allelic: Homocystinuria, cblD type, variant 1 (MMADHC)
- Allelic: Proteinuria, chronic benign (CUBN)
- Biotinidase deficiency (BTD)
- Combined malonic + methylmalonic aciduria (ACSF3)
- Combined methylmalonic acidemia + homocystinuria [GeneReviews; AdoCbl + MeCbl deficiency} (THAP11)
- Combined methylmalonic acidemia + homocystinuria [GeneReviews; AdoCbl + MeCbl deficiency} (ZNF143)
- Holocarboxylase synthetase deficiency (HLCS)
- Imerslund-Grasbeck syndrome 1 (CUBN)
- Imerslund-Grasbeck syndrome 2 (AMN)
- Intellectual developmental disorder, AR 69 (ZBTB11)
- Malonyl-CoA decarboxylase deficiency (MLYCD)
- 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 (MMADHC)
- Methylmalonic aciduria, mut(0) type (MMUT)
- 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)
- Methylmalonyl-CoA epimerase deficiency (MCEE)
- Mitochondrial DNA depletion syndrome 5 [encephalomyopathic with/-out methylmal. aciduria] (SUCLA2)
- Mitochondrial DNA depletion syndrome 9 [encephalomyopathic with methylmalonic aciduria] (SUCLG1)
- Mitochondrial encephalomyopathy with elevated methylmalonic acid (SUCLG2)
- Propionicacidemia (PCCA, PCCB)
- Transcobalamin II deficiency (TCN2)
Erbgänge, Vererbungsmuster etc.
- AR
- XLR
- digenisch
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
E88.8
Bioinformatik und klinische Interpretation
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