Aliases & Classifications for Transcobalamin Deficiency

MalaCards integrated aliases for Transcobalamin Deficiency:

Name: Transcobalamin Deficiency 25
Transcobalamin Ii Deficiency 25 73
Tc Ii Deficiency 25
Tcn2 Deficiency 25
Tc Deficiency 25

Summaries for Transcobalamin Deficiency

Genetics Home Reference : 25 Transcobalamin deficiency is a disorder that impairs the transport of cobalamin (also known as vitamin B12) within the body. Cobalamin is obtained from the diet; this vitamin is found in animal products such as meat, eggs, and shellfish. An inability to transport cobalamin within the body results in cells that lack cobalamin, which they need for many functions including cell growth and division (proliferation) and DNA production. The absence of cobalamin leads to impaired growth, a shortage of blood cells, and many other signs and symptoms that usually become apparent within the first weeks or months of life.

MalaCards based summary : Transcobalamin Deficiency, also known as transcobalamin ii deficiency, is related to transcobalamin i deficiency and transcobalamin ii deficiency, and has symptoms including diarrhea, lethargy and vomiting. An important gene associated with Transcobalamin Deficiency is TCN2 (Transcobalamin 2). Affiliated tissues include kidney, bone and bone marrow, and related phenotypes are thrombocytopenia and neutropenia

Wikipedia : 76 Transcobalamins are carrier proteins which bind cobalamin... more...

Related Diseases for Transcobalamin Deficiency

Diseases related to Transcobalamin Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 transcobalamin i deficiency 11.1
2 transcobalamin ii deficiency 11.0

Symptoms & Phenotypes for Transcobalamin Deficiency

Human phenotypes related to Transcobalamin Deficiency:

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 thrombocytopenia 32 frequent (33%) HP:0001873
2 neutropenia 32 frequent (33%) HP:0001875
3 pancytopenia 32 frequent (33%) HP:0001876
4 lymphopenia 32 frequent (33%) HP:0001888
5 acute kidney injury 32 hallmark (90%) HP:0001919
6 megaloblastic bone marrow 32 hallmark (90%) HP:0001980
7 iga deficiency 32 frequent (33%) HP:0002720
8 igm deficiency 32 frequent (33%) HP:0002850
9 abnormality of chromosome stability 32 hallmark (90%) HP:0003220
10 igg deficiency 32 frequent (33%) HP:0004315
11 methylmalonic aciduria 32 hallmark (90%) HP:0012120

UMLS symptoms related to Transcobalamin Deficiency:


diarrhea, lethargy, vomiting, weakness

Drugs & Therapeutics for Transcobalamin Deficiency

Search Clinical Trials , NIH Clinical Center for Transcobalamin Deficiency

Genetic Tests for Transcobalamin Deficiency

Anatomical Context for Transcobalamin Deficiency

MalaCards organs/tissues related to Transcobalamin Deficiency:

41
Kidney, Bone, Bone Marrow, Globus Pallidus

Publications for Transcobalamin Deficiency

Articles related to Transcobalamin Deficiency:

(show all 34)
# Title Authors Year
1
Seven Patients With Transcobalamin Deficiency Diagnosed Between 2010 and 2014: A Single-Center Experience. ( 27824740 )
2017
2
Long-term Outcome of 4 Patients With Transcobalamin Deficiency Caused by 2 Novel TCN2 Mutations. ( 28538514 )
2017
3
Trilineage dyspoiesis caused by transcobalamin II deficiency. ( 28522466 )
2017
4
Congenital Transcobalamin II Deficiency: A Rare Entity with a Broad Differential. ( 29132166 )
2017
5
Transcobalamin II Deficiency in Four Cases with Novel Mutations. ( 25914105 )
2015
6
Novel Mutation in an Indian Patient with Transcobalamin II Deficiency. ( 25947267 )
2015
7
Update on transcobalamin deficiency: clinical presentation, treatment and outcome. ( 24305960 )
2014
8
Expanding the Spectrum of Methylmalonic Acid-Induced Pallidal Stroke: First Reported Case of Metabolic Globus Pallidus Stroke in Transcobalamin II Deficiency. ( 23430814 )
2013
9
Transcobalamin deficiency caused by compound heterozygosity for two novel mutations in the TCN2 gene: a study of two affected siblings, their brother, and their parents. ( 20607612 )
2010
10
Should transcobalamin deficiency be treated aggressively? ( 20352340 )
2010
11
Transcobalamin II deficiency at birth. ( 19581117 )
2009
12
Retinopathy in inherited Transcobalamin II deficiency. ( 18195238 )
2008
13
Multifocal anaplastic astrocytoma in a patient with hereditary colorectal cancer, transcobalamin II deficiency, agenesis of the corpus callosum, mental retardation, and inherited PMS2 mutation. ( 17993636 )
2008
14
Hereditary partial transcobalamin II deficiency with neurologic, mental and hematologic abnormalities in children and adults. ( 14689755 )
2003
15
Transcobalamin deficiency due to activation of an intra exonic cryptic splice site. ( 14632784 )
2003
16
Congenital transcobalamin II deficiency due to errors in RNA editing. ( 12064907 )
2002
17
Favorable long-term outcome of a patient with transcobalamin II deficiency. ( 12379088 )
2002
18
Retinal degeneration associated with congenital transcobalamin II deficiency. ( 11448334 )
2001
19
Transcobalamin II deficiency with methylmalonic aciduria in three sisters. ( 10518276 )
1999
20
[Transcobalamin II deficiency]. ( 9645045 )
1998
21
Hereditary transcobalamin II deficiency: a 22 year follow up. ( 9048724 )
1997
22
Long-term follow up of patients with transcobalamin II deficiency. ( 7741573 )
1995
23
Expression of transcobalamin II mRNA in human tissues and cultured fibroblasts from normal and transcobalamin II-deficient patients. ( 7913804 )
1994
24
Nonsense mutations in human transcobalamin II deficiency. ( 7980584 )
1994
25
Cytogenetic findings of a child with transcobalamin II deficiency. ( 8362900 )
1993
26
The neurologic aspects of transcobalamin II deficiency. ( 1536799 )
1992
27
Transcobalamin II deficiency: case report and review of the literature. ( 1743216 )
1991
28
Transcobalamin II deficiency presenting with methylmalonic aciduria and homocystinuria and abnormal absorption of cobalamin. ( 2309761 )
1990
29
Transcobalamin II deficiency: long-term follow-up of two cases. ( 3143215 )
1988
30
Prenatal studies in a family with transcobalamin II deficiency. ( 3661564 )
1987
31
Transcobalamin II deficiency and oral cobalamin therapy. ( 3697511 )
1986
32
Homozygous transcobalamin II deficiency maintained on oral hydroxocobalamin. ( 4052627 )
1985
33
Defective adenosylcobalamin synthesis in a case of transcobalamin II deficiency. ( 6775148 )
1980
34
Neonatal megaloblastic anemia due to inherited transcobalamin II deficiency in two siblings. ( 5096637 )
1971

Variations for Transcobalamin Deficiency

Expression for Transcobalamin Deficiency

Search GEO for disease gene expression data for Transcobalamin Deficiency.

Pathways for Transcobalamin Deficiency

GO Terms for Transcobalamin Deficiency

Sources for Transcobalamin Deficiency

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