Aliases & Classifications for Transcobalamin Deficiency

MalaCards integrated aliases for Transcobalamin Deficiency:

Name: Transcobalamin Deficiency 26
Transcobalamin Ii Deficiency 26 74
Tc Ii Deficiency 26
Tcn2 Deficiency 26
Tc Deficiency 26

Summaries for Transcobalamin Deficiency

Genetics Home Reference : 26 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 vomiting, diarrhea and lethargy. An important gene associated with Transcobalamin Deficiency is TCN2 (Transcobalamin 2). Affiliated tissues include bone marrow, kidney and myeloid, and related phenotypes are abnormality of chromosome stability and acute kidney injury

Wikipedia : 77 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 11.3
2 transcobalamin ii deficiency 11.2
3 methylmalonic acidemia 10.1
4 colorectal cancer 10.0
5 megaloblastic anemia 10.0
6 astrocytoma 10.0
7 grade iii astrocytoma 10.0
8 retinal degeneration 10.0
9 homocystinuria 10.0

Graphical network of the top 20 diseases related to Transcobalamin Deficiency:



Diseases related to Transcobalamin Deficiency

Symptoms & Phenotypes for Transcobalamin Deficiency

Human phenotypes related to Transcobalamin Deficiency:

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

UMLS symptoms related to Transcobalamin Deficiency:


vomiting, diarrhea, lethargy, 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:

42
Bone Marrow, Kidney, Myeloid, Globus Pallidus

Publications for Transcobalamin Deficiency

Articles related to Transcobalamin Deficiency:

(show all 47)
# Title Authors Year
1
Different Presentations of Patients with Transcobalamin II Deficiency: A Single-Center Experience from Turkey ( 30185401 )
2019
2
Vacuolization of Myeloid Lineage and Multilineage Dysplasia in a Case of Transcobalamin II Deficiency. ( 30369758 )
2018
3
Seven Patients With Transcobalamin Deficiency Diagnosed Between 2010 and 2014: A Single-Center Experience. ( 27824740 )
2017
4
Trilineage dyspoiesis caused by transcobalamin II deficiency. ( 28522466 )
2017
5
Long-term Outcome of 4 Patients With Transcobalamin Deficiency Caused by 2 Novel TCN2 Mutations. ( 28538514 )
2017
6
Congenital Transcobalamin II Deficiency: A Rare Entity with a Broad Differential. ( 29132166 )
2017
7
Correction: Congenital Transcobalamin II Deficiency: A Rare Entity with a Broad Differential. ( 30562813 )
2017
8
Transcobalamin II Deficiency in Four Cases with Novel Mutations. ( 25914105 )
2015
9
Novel Mutation in an Indian Patient with Transcobalamin II Deficiency. ( 25947267 )
2015
10
Update on transcobalamin deficiency: clinical presentation, treatment and outcome. ( 24305960 )
2014
11
Expanding the Spectrum of Methylmalonic Acid-Induced Pallidal Stroke: First Reported Case of Metabolic Globus Pallidus Stroke in Transcobalamin II Deficiency. ( 23430814 )
2013
12
Should transcobalamin deficiency be treated aggressively? ( 20352340 )
2010
13
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
14
Transcobalamin II deficiency at birth. ( 19581117 )
2009
15
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
16
Retinopathy in inherited Transcobalamin II deficiency. ( 18195238 )
2008
17
Transcobalamin deficiency due to activation of an intra exonic cryptic splice site. ( 14632784 )
2003
18
Hereditary partial transcobalamin II deficiency with neurologic, mental and hematologic abnormalities in children and adults. ( 14689755 )
2003
19
Congenital transcobalamin II deficiency due to errors in RNA editing. ( 12064907 )
2002
20
Favorable long-term outcome of a patient with transcobalamin II deficiency. ( 12379088 )
2002
21
Retinal degeneration associated with congenital transcobalamin II deficiency. ( 11448334 )
2001
22
Transcobalamin II deficiency with methylmalonic aciduria in three sisters. ( 10518276 )
1999
23
[Transcobalamin II deficiency]. ( 9645045 )
1998
24
Hereditary transcobalamin II deficiency: a 22 year follow up. ( 9048724 )
1997
25
Long-term follow up of patients with transcobalamin II deficiency. ( 7741573 )
1995
26
Nonsense mutations in human transcobalamin II deficiency. ( 7980584 )
1994
27
Cytogenetic findings of a child with transcobalamin II deficiency. ( 8362900 )
1993
28
The neurologic aspects of transcobalamin II deficiency. ( 1536799 )
1992
29
Transcobalamin II deficiency: case report and review of the literature. ( 1743216 )
1991
30
Transcobalamin II deficiency presenting with methylmalonic aciduria and homocystinuria and abnormal absorption of cobalamin. ( 2309761 )
1990
31
Transcobalamin II deficiency: long-term follow-up of two cases. ( 3143215 )
1988
32
Prenatal studies in a family with transcobalamin II deficiency. ( 3661564 )
1987
33
Transcobalamin II deficiency and oral cobalamin therapy. ( 3697511 )
1986
34
Homozygous transcobalamin II deficiency maintained on oral hydroxocobalamin. ( 4052627 )
1985
35
Hereditary transcobalamin II deficiency with subnormal serum cobalamin levels. ( 6493881 )
1984
36
Transcobalamin II deficiency in infancy and the diagnostic value of serum B12 binders. ( 6505632 )
1984
37
Congenital transcobalamin II deficiency presenting atypically with a low serum cobalamin level: studies demonstrating the coexistence of a circulating transcobalamin I (R binder) complex. ( 6696994 )
1984
38
Transcobalamin II deficiency associated with unusual bone marrow findings and chromosomal abnormalities. ( 6837569 )
1983
39
Neurological involvement in hereditary transcobalamin II deficiency. ( 7062075 )
1982
40
Hereditary transcobalamin II deficiency presenting as red cell hypoplasia. ( 7131148 )
1982
41
Uptake and metabolism of free cyanocobalamin by cultured human fibroblasts from controls and a patient with transcobalamin II deficiency. ( 7207198 )
1981
42
Granulocyte dysfunction in transcobalamin II deficiency responding to leucovorin or hydroxocobalamin-plasma transfusion. ( 6774168 )
1980
43
Defective adenosylcobalamin synthesis in a case of transcobalamin II deficiency. ( 6775148 )
1980
44
Immunodeficiency due to transcobalamin II deficiency. ( 259045 )
1978
45
Hereditary transcobalamin II deficiency: clinical findings in a new family. ( 4138209 )
1974
46
Hereditary transcobalamin II deficiency: the role of transcobalamin II in vitamin B 12 -mediated reactions. ( 4643028 )
1972
47
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

3 CDC
7 CNVD
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70 SNOMED-CT via HPO
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