Klinische FragestellungGestörter Cobalamin-Metabolismus, Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Störungen im Cobalamin Metabolismus mit 7 bzw. 21 kuratierten Genen gemäß klinischer Verdachtsdiagnose

CP4527

Anzahl Gene

21 Akkreditierte Untersuchung

Untersuchte Sequenzlänge

20,9 kb (Core-/Core-canditate-Gene)
46,8 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
ABCD4	1821	603214	NM_005050.4	AR
CBS	1656	613381	NM_000071.3	AR
HCFC1	6108	300019	NM_005334.3	XLR
LMBRD1	1623	612625	NM_018368.4	AR
MMACHC	849	609831	NM_015506.3	AR
MMADHC	891	611935	NM_015702.3	AR
MTHFR	1971	607093	NM_005957.5	AR
MTR	3798	156570	NM_000254.3	AR
MTRR	2097	602568	NM_002454.3	AR
ACSF3	1731	614245	NM_001127214.4	AR
AMN	1362	605799	NM_030943.4	AR
CBLIF	1254	609342	NM_005142.2	AR
CD320	849	606475	NM_016579.4	AR
CUBN	10872	602997	NM_001081.4	AR
MMAA	1257	607481	NM_172250.3	AR
MMAB	753	607568	NM_052845.4	AR
MMUT	2253	609058	NM_000255.4	AR
SUCLA2	1392	603921	NM_003850.3	AR
TCN2	1284	613441	NM_000355.4	AR
THAP11	946	609119	NM_020457.3	AR
ZNF143	1935	603433	NM_003442.6	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.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

D51.2

Bioinformatik und klinische Interpretation

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