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Klinische FragestellungMethylmalonazidämie ohne Homocystinurie, Differentialdiagnose

Auftragsschein Klin. Fragestellung
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Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Methylmalonazidämie ohne Homocystinurie mit 5 bzw. zusammen genommen 14 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
MP1772
Anzahl Loci
Loci-TypAnzahl
Gen18
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
15,9 kb (Core-/Core-canditate-Gene)
30,0 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Untersuchungsmaterial
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

 

Locipanel

Gen

NameExon-Länge (bp)OMIM-GReferenz-Seq.Erbgang
ACSF31731NM_001127214.4AR
BTD1572NM_001370658.1AR
HLCS2181NM_000411.8AR
MCEE531NM_032601.4AR
MMAA1257NM_172250.3AR
MMAB753NM_052845.4AR
MMACHC849NM_015506.3AR, digenisch
MMADHC891NM_015702.3AR
MMUT2253NM_000255.4AR
PCCA2187NM_000282.4AR
PCCB1620NM_000532.5AR
ABCD41821NM_005050.4AR
CD320849NM_016579.4AR
HCFC16108NM_005334.3XLR
LMBRD11623NM_018368.4AR
SUCLA21392NM_003850.3AR
SUCLG11041NM_003849.4AR
SUCLG21323NM_001177599.2AR

Infos zur Erkrankung

Klinischer Kommentar

illness_ClinicalComment_MP1772

 

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

Bioinformatik und klinische Interpretation

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