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.

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

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

  • 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



Mendelian

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Methylmalonic Acidemia With Homocystinuria, Type Cblc Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMetĀ®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 , (...)

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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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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Symptoms Checker

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