Transcobalamin Deficiency

Description

Transcobalamin deficiency (TC) is a disorder of cobalamin transport that usually presents during the first few months of life and is characterized by megaloblastic anemia, failure to thrive, vomiting, weakness and pancytopenia.

Clinical Features

Top most frequent phenotypes and symptoms related to Transcobalamin Deficiency

  • Intellectual disability
  • Generalized hypotonia
  • Ataxia
  • Failure to thrive
  • Muscle weakness
  • Anemia
  • Intellectual disability, severe
  • Vomiting
  • Diarrhea
  • Immunodeficiency

And another 31 symptoms. If you need more information about this disease we can help you.

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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

Transcobalamin Deficiency Is also known as transcobalamin ii deficiency, inherited deficiency of transcobalamin, tc ii deficiency, tcn2 deficiency.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Transcobalamin Deficiency 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 , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
100 %
TCN2 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

TCN2
Specificity
100 %
Genes
100 %
TCN2 Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

TCN2
Specificity
100 %
Genes
100 %
TCN2 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

TCN2
Specificity
100 %
Genes
100 %
TCN2 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

TCN2
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 %
Methylmalonic Acidemia Sequencing NextGen Panel.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado (United States).

SUCLA2, TCN1, TCN2, CBS, CD320, MCEE, MMAA, MMAB, ACSF3, CBLIF, IVD, MTHFR, MTR
Specificity
8 %
Genes
100 %
Comprehensive Mitochondrial Metabolic Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

BCS1L, SCO1, SCO2, SDHB, SDHC, SDHD, SLC22A5, SLC25A13, SLC25A15, SLC25A3, SLC25A4, BTD, SUCLA2, SUCLG1, SURF1, TAZ, TWNK, TCN2, TFAM, TIMM8A , (...)

View the complete list with 173 more genes
Specificity
1 %
Genes
100 %

You can get up to 34 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Rare Disease Search Engine

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