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 vomiting, diarrhea and lethargy. An important gene associated with Transcobalamin Deficiency is TCN2 (Transcobalamin 2). Affiliated tissues include bone, bone marrow and kidney, and related phenotypes are pancytopenia and thrombocytopenia

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 11.3
2 transcobalamin ii deficiency 11.1
3 colorectal cancer 10.0
4 megaloblastic anemia 10.0
5 astrocytoma 10.0
6 grade iii astrocytoma 10.0
7 retinal degeneration 10.0
8 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:

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

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:

41
Bone, Bone Marrow, Kidney, Myeloid, Globus Pallidus

Publications for Transcobalamin Deficiency

Articles related to Transcobalamin Deficiency:

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