Aliases & Classifications for Transcobalamin Deficiency

MalaCards integrated aliases for Transcobalamin Deficiency:

Name: Transcobalamin Deficiency 43
Transcobalamin Ii Deficiency 43 70
Tc Ii Deficiency 43
Tcn2 Deficiency 43
Tc Deficiency 43

Summaries for Transcobalamin Deficiency

MedlinePlus Genetics : 43 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.The first signs of transcobalamin deficiency are typically a failure to gain weight and grow at the expected rate (failure to thrive), vomiting, diarrhea, and open sores (ulcers) on the mucous membranes such as the lining inside the mouth. Neurological function is impaired in affected individuals, and they can experience progressive stiffness and weakness in their legs (paraparesis), muscle twitches (myoclonus), or intellectual disability.People with transcobalamin deficiency often develop a blood disorder called megaloblastic anemia. Megaloblastic anemia results in a shortage of red blood cells, and the remaining red blood cells are abnormally large. Individuals with transcobalamin deficiency may also have a shortage of white blood cells (neutropenia), which can lead to reduced immune system function. Decreased cellular cobalamin can lead to a buildup of certain compounds in the body, resulting in metabolic conditions known as methylmalonic aciduria or homocystinuria.

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, lethargy and diarrhea. An important gene associated with Transcobalamin Deficiency is TCN2 (Transcobalamin 2). Affiliated tissues include bone marrow, globus pallidus and bone, and related phenotypes are abnormality of chromosome stability and methylmalonic aciduria

Wikipedia : 73 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:

(show all 49)
# Related Disease Score Top Affiliating Genes
1 transcobalamin i deficiency 11.2
2 transcobalamin ii deficiency 11.1
3 constitutional megaloblastic anemia due to vitamin b12 metabolism disorder 10.3
4 autosomal recessive disease 10.3
5 pancytopenia 10.2
6 methylmalonic acidemia 10.1
7 megaloblastic anemia 10.1
8 vitamin b12 deficiency 10.0
9 combined immunodeficiency 10.0
10 diarrhea 10.0
11 agammaglobulinemia 10.0
12 severe combined immunodeficiency 10.0
13 lynch syndrome i 10.0
14 glioma susceptibility 1 10.0
15 neural tube defects 10.0
16 stroke, ischemic 10.0
17 tumor predisposition syndrome 10.0
18 cutaneous telangiectasia and cancer syndrome, familial 10.0
19 mismatch repair cancer syndrome 4 10.0
20 hemophagocytic lymphohistiocytosis 10.0
21 protein-losing enteropathy 10.0
22 glossitis 10.0
23 avoidant personality disorder 10.0
24 personality disorder 10.0
25 malignant astrocytoma 10.0
26 anaplastic astrocytoma 10.0
27 lynch syndrome 10.0
28 dyslexia 10.0
29 peripheral nervous system disease 10.0
30 lymphopenia 10.0
31 axonal neuropathy 10.0
32 retinal degeneration 10.0
33 neuropathy 10.0
34 homocystinuria 10.0
35 ulcerative stomatitis 10.0
36 disorders of intracellular cobalamin metabolism 10.0
37 methylmalonic acidemia with homocystinuria 10.0
38 hypotonia 10.0
39 inherited cancer-predisposing syndrome 10.0
40 46,xy disorder of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect 10.0
41 hereditary nonpolyposis colon cancer 10.0
42 homocysteinemia 9.9
43 autism spectrum disorder 9.9
44 neutropenia 9.9
45 thrombocytopenia 9.9
46 macrocytic anemia 9.9
47 neonatal leukemia 9.9
48 stomatitis 9.9
49 inherited metabolic disorder 9.7

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:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 abnormality of chromosome stability 31 hallmark (90%) HP:0003220
2 methylmalonic aciduria 31 hallmark (90%) HP:0012120
3 megaloblastic bone marrow 31 hallmark (90%) HP:0001980
4 acute kidney injury 31 hallmark (90%) HP:0001919
5 thrombocytopenia 31 frequent (33%) HP:0001873
6 lymphopenia 31 frequent (33%) HP:0001888
7 neutropenia 31 frequent (33%) HP:0001875
8 pancytopenia 31 frequent (33%) HP:0001876
9 decreased circulating iga level 31 frequent (33%) HP:0002720
10 decreased circulating igg level 31 frequent (33%) HP:0004315
11 decreased circulating total igm 31 frequent (33%) HP:0002850

UMLS symptoms related to Transcobalamin Deficiency:


vomiting; lethargy; diarrhea; 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:

40
Bone Marrow, Globus Pallidus, Bone, Colon, Kidney, Myeloid

Publications for Transcobalamin Deficiency

Articles related to Transcobalamin Deficiency:

(show top 50) (show all 72)
# Title Authors PMID Year
1
Long-term outcome of a patient with Transcobalamin deficiency caused by the homozygous c.1115_1116delCA mutation in TCN2 gene: a case report. 61
33685478 2021
2
Retinopathy of transcobalamin II deficiency: long-term stability with treatment. 61
33476645 2021
3
Transcobalamin II deficiency in twins with a novel variant in the TCN2 gene: case report and review of literature. 61
32841161 2020
4
Identification of transcobalamin deficiency with two novel mutations in the TCN2 gene in a Chinese girl with abnormal immunity: a case report. 61
33023511 2020
5
Immunodeficiency and inborn disorders of vitamin B12 and folate metabolism. 61
32412981 2020
6
Transcobalamin deficiency: vitamin B12 deficiency with normal serum B12 levels. 61
31666257 2019
7
Different Presentations of Patients with Transcobalamin II Deficiency: A Single-Center Experience from Turkey 61
30185401 2019
8
Vacuolization of Myeloid Lineage and Multilineage Dysplasia in a Case of Transcobalamin II Deficiency. 61
30369758 2018
9
Congenital Transcobalamin II Deficiency: A Rare Entity with a Broad Differential. 61
29132166 2017
10
Correction: Congenital Transcobalamin II Deficiency: A Rare Entity with a Broad Differential. 61
30562813 2017
11
Long-term Outcome of 4 Patients With Transcobalamin Deficiency Caused by 2 Novel TCN2 Mutations. 61
28538514 2017
12
Trilineage dyspoiesis caused by transcobalamin II deficiency. 61
28522466 2017
13
Seven Patients With Transcobalamin Deficiency Diagnosed Between 2010 and 2014: A Single-Center Experience. 61
27824740 2017
14
Transcobalamin II Deficiency in Four Cases with Novel Mutations. 61
25914105 2015
15
Novel Mutation in an Indian Patient with Transcobalamin II Deficiency. 61
25947267 2015
16
Biochemical and Hematologic Manifestations of Gastric Intrinsic Factor (GIF) Deficiency: A Treatable Cause of B12 Deficiency in the Old Order Mennonite Population of Southwestern Ontario. 61
25308559 2015
17
Update on transcobalamin deficiency: clinical presentation, treatment and outcome. 61
24305960 2014
18
Expanding the Spectrum of Methylmalonic Acid-Induced Pallidal Stroke: First Reported Case of Metabolic Globus Pallidus Stroke in Transcobalamin II Deficiency. 61
23430814 2013
19
Holotranscobalamin, a marker of vitamin B-12 status: analytical aspects and clinical utility. 61
21593496 2011
20
Inborn errors of cobalamin absorption and metabolism. 61
21312325 2011
21
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. 61
20607612 2010
22
Should transcobalamin deficiency be treated aggressively? 61
20352340 2010
23
Transcobalamin II deficiency at birth. 61
19581117 2009
24
Multifocal anaplastic astrocytoma in a patient with hereditary colorectal cancer, transcobalamin II deficiency, agenesis of the corpus callosum, mental retardation, and inherited PMS2 mutation. 61
17993636 2008
25
Retinopathy in inherited Transcobalamin II deficiency. 61
18195238 2008
26
Acquired and inherited disorders of cobalamin and folate in children. 61
16846473 2006
27
Imerslund-Gräsbeck syndrome (selective vitamin B(12) malabsorption with proteinuria). 61
16722557 2006
28
Prenatal diagnosis for methylmalonic acidemia and inborn errors of vitamin B12 metabolism and transport. 61
16150626 2005
29
Transcobalamin deficiency due to activation of an intra exonic cryptic splice site. 61
14632784 2003
30
Hereditary partial transcobalamin II deficiency with neurologic, mental and hematologic abnormalities in children and adults. 61
14689755 2003
31
Favorable long-term outcome of a patient with transcobalamin II deficiency. 61
12379088 2002
32
Linkage analysis of a large inbred family with congenital megaloblastic anemia. 61
12436132 2002
33
Congenital transcobalamin II deficiency due to errors in RNA editing. 61
12064907 2002
34
Retinal degeneration associated with congenital transcobalamin II deficiency. 61
11448334 2001
35
[Hereditary transcobalamin II deficiency]. 61
11212740 2000
36
Transcobalamin II deficiency with methylmalonic aciduria in three sisters. 61
10518276 1999
37
Genetic defects of folate and cobalamin metabolism. 61
9587028 1998
38
[Hereditary transcobalamin II deficiency]. 61
9833475 1998
39
[Transcobalamin II deficiency]. 61
9645045 1998
40
Hereditary transcobalamin II deficiency: a 22 year follow up. 61
9048724 1997
41
Long-term follow up of patients with transcobalamin II deficiency. 61
7741573 1995
42
Nonsense mutations in human transcobalamin II deficiency. 61
7980584 1994
43
Cytogenetic findings of a child with transcobalamin II deficiency. 61
8362900 1993
44
The neurologic aspects of transcobalamin II deficiency. 61
1536799 1992
45
Transcobalamin II deficiency: case report and review of the literature. 61
1743216 1991
46
Metabolism of 1-13C-propionate in vivo in patients with disorders of propionate metabolism. 61
1909779 1991
47
Transcobalamin II deficiency presenting with methylmalonic aciduria and homocystinuria and abnormal absorption of cobalamin. 61
2309761 1990
48
[Megaloblastic anemia caused by a congenital deficiency of transcobalamin II. Apropos of a new case]. 61
2617385 1989
49
Deoxyuridine suppression: biochemical basis and diagnostic applications. 61
3052662 1988
50
Transcobalamin II deficiency: long-term follow-up of two cases. 61
3143215 1988

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 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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