Methylmalonic Acidemia With Homocystinuria, Type Cblc
Description
cblC type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.
Genes related to Methylmalonic Acidemia With Homocystinuria, Type Cblc
- MMACHC
Clinical Features
Phenotypes and symptoms related to Methylmalonic Acidemia With Homocystinuria, Type Cblc
- Seizures
- Microcephaly
- Failure to thrive
- Fatigue
- Hydrocephalus
- Pallor
- Retinopathy
- Lethargy
- Anorexia
- Megaloblastic bone marrow
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Alternative names
Methylmalonic Acidemia With Homocystinuria, Type Cblc Is also known as methylmalonic aciduria with homocystinuria, type cblc, combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblc, cobalamin c defect, cblc defect.
Researches and researchers
Doctors, researchs, and experts related to Methylmalonic Acidemia With Homocystinuria, Type Cblc extracted from public data.
Methylmalonic Acidemia With Homocystinuria, Type Cblc Experts map
Current Researchs and researchers
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AMSTERDAM — Pr H.J. [Henk] BLOM
Coordinator of research network
-
Institution/s:
— Amsterdam UMC, locatie VUmc -
Research area/topic::
E-HOD - European network and registry for homocystinurias and methylation defects
-
Institution/s:
Methylmalonic Acidemia With Homocystinuria, Type Cblc Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
MitoMet®Plus aCGH Analysis.
By Baylor Miraca Genetics Laboratories (United States).
RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)
View the complete list with 612 more genes
Specificity
1 %
Genes
100 % |
MMACHC Deletion/Duplication Analysis.
By Baylor Miraca Genetics Laboratories (United States).
MMACHC
Specificity
100 %
Genes
100 % |
MMACHC Comprehensive - Sequence & Deletion/Duplication Analysis.
By Baylor Miraca Genetics Laboratories (United States).
MMACHC
Specificity
100 %
Genes
100 % |
MMACHC Sequence Analysis.
By Baylor Miraca Genetics Laboratories (United States).
MMACHC
Specificity
100 %
Genes
100 % |
MMACHC Sequence Analysis (Prenatal Diagnosis).
By Baylor Miraca Genetics Laboratories (United States).
MMACHC
Specificity
100 %
Genes
100 % |
Cobalamin Metabolism Panel (MitomeNGS).
By Baylor Miraca Genetics Laboratories (United States).
TCN2, MMAA, MMAB, LMBRD1, MMACHC, MMADHC, MTR, MTRR, MMUT
Specificity
12 %
Genes
100 % |
GeneAware Complete Panel Version 2 (Female).
By Baylor Miraca Genetics Laboratories (United States).
RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, BTK , (...)
View the complete list with 139 more genes
Specificity
1 %
Genes
100 % |
GeneAware Complete Panel Version 2 (Male).
By Baylor Miraca Genetics Laboratories (United States).
RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, TGM1 , (...)
View the complete list with 129 more genes
Specificity
1 %
Genes
100 % |
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Learn moreSources and references
You can check the following sources for additional information.
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