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Interdisciplinary CompetenceMolecular Diagnostics
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IllnessDisturbed Cobalamin metabolism, differential diagnosis

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Summary

Short information

Comprehensive differential diagnostic panel for disturbed Cobalamin metabolism comprising 7 or 21 curated genes according to the clinical signs

ID
CP4527
Number of genes
21 Accredited laboratory test
Examined sequence length
20,9 kb (Core-/Core-canditate-Genes)
46,8 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
ABCD41821NM_005050.4AR
CBS1656NM_000071.3AR
HCFC16108NM_005334.3XLR
LMBRD11623NM_018368.4AR
MMACHC849NM_015506.3AR
MMADHC891NM_015702.3AR
MTHFR1971NM_005957.5AR
MTR3798NM_000254.3AR
MTRR2097NM_002454.3AR
ACSF31731NM_001127214.4AR
AMN1362NM_030943.4AR
CBLIF1254NM_005142.2AR
CD320849NM_016579.4AR
CUBN10872NM_001081.4AR
MMAA1257NM_172250.3AR
MMAB753NM_052845.4AR
MMUT2253NM_000255.4AR
SUCLA21392NM_003850.3AR
TCN21284NM_000355.4AR
THAP11946NM_020457.3AR
ZNF1431935NM_003442.6AR

Informations about the disease

Clinical Comment

Disorders causing primarily isolated homocystinuria: CBS deficiency (classic homocystinuria), MTHFR deficiency

Disorders causing primarily methylmalonic MUT, MMAA, MMAB genes; SUCLA2 deficiency; MMADHC

"benign methylmalonic acidemia", Reye-like syndrome, combined malonic and methylmalonic acidemia ACSF3 pathogenic variants

Intrinsic factor deficiency, congenital pernicious anemia GIF gene

 

Synonyms
  • 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)
Heredity, heredity patterns etc.
  • AR
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined