TCN2 DEFICIENCY
MCID: TRN022
MIFTS: 48

Transcobalamin Ii Deficiency (TCN2 DEFICIENCY)

Categories: Blood diseases, Genetic diseases, Immune diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Transcobalamin Ii Deficiency

MalaCards integrated aliases for Transcobalamin Ii Deficiency:

Name: Transcobalamin Ii Deficiency 57 12 59 75 37 29 13 55 6 15 40 73
Tcn2 Deficiency 57 12 75
Inherited Deficiency of Transcobalamin 59
Transcobalamin Deficiency 59
Transcobalamin Ii 13
Tc Ii Deficiency 57

Characteristics:

Orphanet epidemiological data:

59
transcobalamin deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
presentation at 3-6 weeks of age
severe infections in untreated patients with neutropenia
neurologic dysfunction is infrequent and associated with delayed diagnosis


HPO:

32
transcobalamin ii deficiency:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Transcobalamin Ii Deficiency

OMIM : 57 Transcobalamin II deficiency is an autosomal recessive disorder with onset in early infancy characterized by failure to thrive, megaloblastic anemia, and pancytopenia. Other features include methylmalonic aciduria, recurrent infections, and vomiting and diarrhea. Treatment with cobalamin results in clinical improvement, but the untreated disorder may result in mental retardation and neurologic abnormalities (summary by Haberle et al., 2009). Hall (1981) gave a clinically oriented review of congenital defects of vitamin B12 transport, and Frater-Schroder (1983) gave a genetically oriented review. (275350)

MalaCards based summary : Transcobalamin Ii Deficiency, also known as tcn2 deficiency, is related to neural tube defects, folate-sensitive and neural tube defects, and has symptoms including vomiting, diarrhea and lethargy. An important gene associated with Transcobalamin Ii Deficiency is TCN2 (Transcobalamin 2), and among its related pathways/superpathways are Vitamin digestion and absorption and Metabolism. Affiliated tissues include bone, bone marrow and kidney, and related phenotypes are pancytopenia and neutropenia

Disease Ontology : 12 A vitamin B12 deficiency that is characterized by a lack of vitamin B12 intestinal absorption resulting from a deficiency in the B12 transport protein TCII.

UniProtKB/Swiss-Prot : 75 Transcobalamin II deficiency: Results in various forms of anemia.

Related Diseases for Transcobalamin Ii Deficiency

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

(show all 49)
# Related Disease Score Top Affiliating Genes
1 neural tube defects, folate-sensitive 29.9 MTHFR MTR MTRR
2 neural tube defects 29.6 DHFR MTHFR MTR MTRR TCN2
3 homocystinuria 29.4 LMBRD1 MMADHC MTHFR MTR MTRR TCN2
4 megaloblastic anemia 28.9 CBLIF DHFR LMBRD1 MMADHC MTHFR MTR
5 transcobalamin deficiency 11.8
6 transcobalamin i deficiency 11.3
7 melioidosis 10.3
8 influenza 10.3
9 vitamin b12-responsive methylmalonic acidemia 10.2 MMAA MTR
10 pernicious anemia 10.1 CBLIF TCN1 TCN2
11 methylmalonic aciduria and homocystinuria type cble 10.1 MTR MTRR
12 methylmalonic aciduria and homocystinuria type cblg 10.1 MTR MTRR
13 malaria 10.1
14 leukemia 10.0
15 ulcerative colitis 10.0
16 colitis 10.0
17 corneal dystrophy, reis-bucklers type 10.0 KCNJ11 SLC35G5
18 homocystinuria due to deficiency of n -methylenetetrahydrofolate reductase activity 10.0 MTHFR MTR
19 nondisjunction 10.0 MTHFR MTRR
20 methylmalonic aciduria and homocystinuria, cblc type 10.0 MMD MTR
21 pulmonary artery disease 10.0 MTHFR PES1
22 pediatric osteosarcoma 10.0 DHFR MTHFR
23 cardia cancer 10.0 MTHFR MTRR
24 organic acidemia 10.0 MMAA MMADHC
25 colorectal cancer 10.0
26 astrocytoma 10.0
27 grade iii astrocytoma 10.0
28 retinal degeneration 10.0
29 disorders of intracellular cobalamin metabolism 9.9 LMBRD1 MMADHC MTR MTRR
30 adult acute lymphocytic leukemia 9.9 MTHFR MTR
31 arteries, anomalies of 9.9
32 cryoglobulinemia, familial mixed 9.9
33 acute leukemia 9.9
34 coronary artery anomaly 9.9
35 crohn's disease 9.9
36 hemophagocytic lymphohistiocytosis 9.9
37 protein-energy malnutrition 9.9
38 dementia 9.9
39 typhoid fever 9.9
40 scrub typhus 9.9
41 gaucher's disease 9.9
42 cryoglobulinemia 9.9
43 homocysteinemia 9.9 MTHFR MTR MTRR
44 anencephaly 9.9 MTHFR MTR MTRR
45 vitamin b12 deficiency 9.9 MTHFR MTR TCN1 TCN2
46 vitamin metabolic disorder 9.7 LMBRD1 MMADHC MTHFR MTR TCN1 TCN2
47 holocarboxylase synthetase deficiency 9.6 LMBRD1 MMD MMUT MTHFR
48 amino acid metabolic disorder 9.5 MMAA MMD MMUT MTHFR MTR
49 methylmalonic aciduria due to methylmalonyl-coa mutase deficiency 9.4 LMBRD1 MMAA MMADHC MMUT MTHFR MTR

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



Diseases related to Transcobalamin Ii Deficiency

Symptoms & Phenotypes for Transcobalamin Ii Deficiency

Symptoms via clinical synopsis from OMIM:

57
Growth Other:
failure to thrive

Hematology:
pancytopenia
neutropenia
macrocytic anemia
megaloblastic bone marrow
reticulocytopenia

Laboratory Abnormalities:
methylmalonic aciduria
normal serum cobalamin
normal serum folate
reduced unsaturated serum cobalamin binding capacity
abnormal schilling test (not normalized by addition of intrinsic factor)
more
Immunology:
decreased igg
decreased igm
decreased iga

Abdomen Gastrointestinal:
vomiting
diarrhea

Neurologic Central Nervous System:
irritability
lethargy
mental retardation (if untreated)
ataxia (if untreated)

Muscle Soft Tissue:
weakness

Head And Neck Mouth:
mucosal ulceration


Clinical features from OMIM:

275350

Human phenotypes related to Transcobalamin Ii Deficiency:

59 32 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pancytopenia 59 32 Frequent (79-30%) HP:0001876
2 neutropenia 59 32 Frequent (79-30%) HP:0001875
3 iga deficiency 59 32 Frequent (79-30%) HP:0002720
4 igm deficiency 59 32 Frequent (79-30%) HP:0002850
5 igg deficiency 59 32 Frequent (79-30%) HP:0004315
6 methylmalonic aciduria 59 32 Very frequent (99-80%) HP:0012120
7 megaloblastic bone marrow 59 32 Very frequent (99-80%) HP:0001980
8 intellectual disability 32 HP:0001249
9 ataxia 32 HP:0001251
10 muscle weakness 32 HP:0001324
11 failure to thrive 32 HP:0001508
12 vomiting 32 HP:0002013
13 irritability 32 HP:0000737
14 thrombocytopenia 59 Frequent (79-30%)
15 decreased antibody level in blood 59 Frequent (79-30%)
16 abnormality of the mouth 32 HP:0000153
17 lymphopenia 59 Frequent (79-30%)
18 abnormality of chromosome stability 59 Very frequent (99-80%)
19 diarrhea 32 HP:0002014
20 lethargy 32 HP:0001254
21 acute kidney injury 59 Very frequent (99-80%)
22 macrocytic anemia 32 HP:0001972
23 reticulocytopenia 32 HP:0001896

UMLS symptoms related to Transcobalamin Ii Deficiency:


vomiting, diarrhea, lethargy, weakness

GenomeRNAi Phenotypes related to Transcobalamin Ii Deficiency according to GeneCards Suite gene sharing:

26 (show all 17)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.62 MTRR PMS2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-126 9.62 TCN2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.62 MTRR
4 Increased shRNA abundance (Z-score > 2) GR00366-A-158 9.62 MTRR
5 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.62 PMS2
6 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.62 MTRR
7 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.62 PMS2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-197 9.62 PMS2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-207 9.62 PMS2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-45 9.62 TCN2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.62 MTRR
12 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.62 PMS2
13 Increased shRNA abundance (Z-score > 2) GR00366-A-56 9.62 MTRR PMS2 TCN2
14 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.62 PMS2
15 Increased shRNA abundance (Z-score > 2) GR00366-A-80 9.62 TCN2
16 Increased shRNA abundance (Z-score > 2) GR00366-A-92 9.62 MTRR
17 Increased shRNA abundance (Z-score > 2) GR00366-A-93 9.62 MTRR

Drugs & Therapeutics for Transcobalamin Ii Deficiency

Search Clinical Trials , NIH Clinical Center for Transcobalamin Ii Deficiency

Genetic Tests for Transcobalamin Ii Deficiency

Genetic tests related to Transcobalamin Ii Deficiency:

# Genetic test Affiliating Genes
1 Transcobalamin Ii Deficiency 29 TCN2

Anatomical Context for Transcobalamin Ii Deficiency

MalaCards organs/tissues related to Transcobalamin Ii Deficiency:

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

Publications for Transcobalamin Ii Deficiency

Articles related to Transcobalamin Ii Deficiency:

(show all 40)
# 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
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
Expanding the Spectrum of Methylmalonic Acid-Induced Pallidal Stroke: First Reported Case of Metabolic Globus Pallidus Stroke in Transcobalamin II Deficiency. ( 23430814 )
2013
8
Transcobalamin II deficiency at birth. ( 19581117 )
2009
9
Retinopathy in inherited Transcobalamin II deficiency. ( 18195238 )
2008
10
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
11
Hereditary partial transcobalamin II deficiency with neurologic, mental and hematologic abnormalities in children and adults. ( 14689755 )
2003
12
Congenital transcobalamin II deficiency due to errors in RNA editing. ( 12064907 )
2002
13
Favorable long-term outcome of a patient with transcobalamin II deficiency. ( 12379088 )
2002
14
Retinal degeneration associated with congenital transcobalamin II deficiency. ( 11448334 )
2001
15
Transcobalamin II deficiency with methylmalonic aciduria in three sisters. ( 10518276 )
1999
16
[Transcobalamin II deficiency]. ( 9645045 )
1998
17
Hereditary transcobalamin II deficiency: a 22 year follow up. ( 9048724 )
1997
18
Long-term follow up of patients with transcobalamin II deficiency. ( 7741573 )
1995
19
Nonsense mutations in human transcobalamin II deficiency. ( 7980584 )
1994
20
Cytogenetic findings of a child with transcobalamin II deficiency. ( 8362900 )
1993
21
The neurologic aspects of transcobalamin II deficiency. ( 1536799 )
1992
22
Transcobalamin II deficiency: case report and review of the literature. ( 1743216 )
1991
23
Transcobalamin II deficiency presenting with methylmalonic aciduria and homocystinuria and abnormal absorption of cobalamin. ( 2309761 )
1990
24
Transcobalamin II deficiency: long-term follow-up of two cases. ( 3143215 )
1988
25
Prenatal studies in a family with transcobalamin II deficiency. ( 3661564 )
1987
26
Transcobalamin II deficiency and oral cobalamin therapy. ( 3697511 )
1986
27
Homozygous transcobalamin II deficiency maintained on oral hydroxocobalamin. ( 4052627 )
1985
28
Hereditary transcobalamin II deficiency with subnormal serum cobalamin levels. ( 6493881 )
1984
29
Transcobalamin II deficiency in infancy and the diagnostic value of serum B12 binders. ( 6505632 )
1984
30
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
31
Transcobalamin II deficiency associated with unusual bone marrow findings and chromosomal abnormalities. ( 6837569 )
1983
32
Neurological involvement in hereditary transcobalamin II deficiency. ( 7062075 )
1982
33
Hereditary transcobalamin II deficiency presenting as red cell hypoplasia. ( 7131148 )
1982
34
Uptake and metabolism of free cyanocobalamin by cultured human fibroblasts from controls and a patient with transcobalamin II deficiency. ( 7207198 )
1981
35
Defective adenosylcobalamin synthesis in a case of transcobalamin II deficiency. ( 6775148 )
1980
36
Granulocyte dysfunction in transcobalamin II deficiency responding to leucovorin or hydroxocobalamin-plasma transfusion. ( 6774168 )
1980
37
Immunodeficiency due to transcobalamin II deficiency. ( 259045 )
1978
38
Hereditary transcobalamin II deficiency: clinical findings in a new family. ( 4138209 )
1974
39
Hereditary transcobalamin II deficiency: the role of transcobalamin II in vitamin B 12 -mediated reactions. ( 4643028 )
1972
40
Neonatal megaloblastic anemia due to inherited transcobalamin II deficiency in two siblings. ( 5096637 )
1971

Variations for Transcobalamin Ii Deficiency

ClinVar genetic disease variations for Transcobalamin Ii Deficiency:

6 (show top 50) (show all 148)
# Gene Variation Type Significance SNP ID Assembly Location
1 TCN2 NM_000355.3(TCN2): c.927_930delTCTG (p.Cys309Trpfs) deletion Pathogenic rs794728001 GRCh38 Chromosome 22, 30615774: 30615777
2 TCN2 NM_000355.3(TCN2): c.927_930delTCTG (p.Cys309Trpfs) deletion Pathogenic rs794728001 GRCh37 Chromosome 22, 31011761: 31011764
3 TCN2 NM_000355.3(TCN2): c.776G> C (p.Arg259Pro) single nucleotide variant Benign rs1801198 GRCh37 Chromosome 22, 31011610: 31011610
4 TCN2 NM_000355.3(TCN2): c.776G> C (p.Arg259Pro) single nucleotide variant Benign rs1801198 GRCh38 Chromosome 22, 30615623: 30615623
5 TCN2 NM_000355.3(TCN2): c.626C> G (p.Ser209Ter) single nucleotide variant not provided rs796064505 GRCh37 Chromosome 22, 31011333: 31011333
6 TCN2 NM_000355.3(TCN2): c.626C> G (p.Ser209Ter) single nucleotide variant not provided rs796064505 GRCh38 Chromosome 22, 30615346: 30615346
7 TCN2 NM_000355.3(TCN2): c.-34A> G single nucleotide variant Uncertain significance rs199511962 GRCh38 Chromosome 22, 30607298: 30607298
8 TCN2 NM_000355.3(TCN2): c.-181A> C single nucleotide variant Uncertain significance rs2240433 GRCh38 Chromosome 22, 30607151: 30607151
9 TCN2 NM_000355.3(TCN2): c.-181A> C single nucleotide variant Uncertain significance rs2240433 GRCh37 Chromosome 22, 31003138: 31003138
10 TCN2 NM_000355.3(TCN2): c.-98T> G single nucleotide variant Uncertain significance rs370882214 GRCh37 Chromosome 22, 31003221: 31003221
11 TCN2 NM_000355.3(TCN2): c.-98T> G single nucleotide variant Uncertain significance rs370882214 GRCh38 Chromosome 22, 30607234: 30607234
12 TCN2 NM_000355.3(TCN2): c.-34A> G single nucleotide variant Uncertain significance rs199511962 GRCh37 Chromosome 22, 31003285: 31003285
13 TCN2 NM_000355.3(TCN2): c.230A> T (p.Lys77Met) single nucleotide variant Benign/Likely benign rs75680863 GRCh37 Chromosome 22, 31007023: 31007023
14 TCN2 NM_000355.3(TCN2): c.230A> T (p.Lys77Met) single nucleotide variant Benign/Likely benign rs75680863 GRCh38 Chromosome 22, 30611036: 30611036
15 TCN2 NM_000355.3(TCN2): c.810G> T (p.Ala270=) single nucleotide variant Uncertain significance rs61748898 GRCh37 Chromosome 22, 31011644: 31011644
16 TCN2 NM_000355.3(TCN2): c.810G> T (p.Ala270=) single nucleotide variant Uncertain significance rs61748898 GRCh38 Chromosome 22, 30615657: 30615657
17 TCN2 NM_000355.3(TCN2): c.921A> C (p.Pro307=) single nucleotide variant Conflicting interpretations of pathogenicity rs138738105 GRCh38 Chromosome 22, 30615768: 30615768
18 TCN2 NM_000355.3(TCN2): c.921A> C (p.Pro307=) single nucleotide variant Conflicting interpretations of pathogenicity rs138738105 GRCh37 Chromosome 22, 31011755: 31011755
19 TCN2 NM_000355.3(TCN2): c.941-13C> T single nucleotide variant Uncertain significance rs192009509 GRCh38 Chromosome 22, 30617317: 30617317
20 TCN2 NM_000355.3(TCN2): c.941-13C> T single nucleotide variant Uncertain significance rs192009509 GRCh37 Chromosome 22, 31013304: 31013304
21 TCN2 NM_000355.3(TCN2): c.*82C> T single nucleotide variant Likely benign rs12169610 GRCh38 Chromosome 22, 30626603: 30626603
22 TCN2 NM_000355.3(TCN2): c.*82C> T single nucleotide variant Likely benign rs12169610 GRCh37 Chromosome 22, 31022590: 31022590
23 TCN2 NM_000355.3(TCN2): c.*209G> C single nucleotide variant Uncertain significance rs146450057 GRCh38 Chromosome 22, 30626730: 30626730
24 TCN2 NM_000355.3(TCN2): c.*209G> C single nucleotide variant Uncertain significance rs146450057 GRCh37 Chromosome 22, 31022717: 31022717
25 TCN2 NM_000355.3(TCN2): c.*300T> G single nucleotide variant Uncertain significance rs187942607 GRCh38 Chromosome 22, 30626821: 30626821
26 TCN2 NM_000355.3(TCN2): c.*300T> G single nucleotide variant Uncertain significance rs187942607 GRCh37 Chromosome 22, 31022808: 31022808
27 TCN2 NM_000355.3(TCN2): c.*313dupA duplication Likely benign rs397940476 GRCh38 Chromosome 22, 30626834: 30626834
28 TCN2 NM_000355.3(TCN2): c.*313dupA duplication Likely benign rs397940476 GRCh37 Chromosome 22, 31022821: 31022821
29 TCN2 NM_000355.3(TCN2): c.-215C> T single nucleotide variant Likely benign rs79083159 GRCh38 Chromosome 22, 30607117: 30607117
30 TCN2 NM_000355.3(TCN2): c.-215C> T single nucleotide variant Likely benign rs79083159 GRCh37 Chromosome 22, 31003104: 31003104
31 TCN2 NM_000355.3(TCN2): c.64+11C> T single nucleotide variant Uncertain significance rs141519384 GRCh37 Chromosome 22, 31003393: 31003393
32 TCN2 NM_000355.3(TCN2): c.64+11C> T single nucleotide variant Uncertain significance rs141519384 GRCh38 Chromosome 22, 30607406: 30607406
33 TCN2 NM_000355.3(TCN2): c.428-4T> C single nucleotide variant Conflicting interpretations of pathogenicity rs201408393 GRCh37 Chromosome 22, 31010332: 31010332
34 TCN2 NM_000355.3(TCN2): c.428-4T> C single nucleotide variant Conflicting interpretations of pathogenicity rs201408393 GRCh38 Chromosome 22, 30614345: 30614345
35 TCN2 NM_000355.3(TCN2): c.501C> T (p.His167=) single nucleotide variant Conflicting interpretations of pathogenicity rs144652799 GRCh37 Chromosome 22, 31010409: 31010409
36 TCN2 NM_000355.3(TCN2): c.501C> T (p.His167=) single nucleotide variant Conflicting interpretations of pathogenicity rs144652799 GRCh38 Chromosome 22, 30614422: 30614422
37 TCN2 NM_000355.3(TCN2): c.643C> T (p.Arg215Trp) single nucleotide variant Benign/Likely benign rs35838082 GRCh37 Chromosome 22, 31011350: 31011350
38 TCN2 NM_000355.3(TCN2): c.643C> T (p.Arg215Trp) single nucleotide variant Benign/Likely benign rs35838082 GRCh38 Chromosome 22, 30615363: 30615363
39 TCN2 NM_000355.3(TCN2): c.1023G> A (p.Pro341=) single nucleotide variant Benign/Likely benign rs76802001 GRCh38 Chromosome 22, 30617412: 30617412
40 TCN2 NM_000355.3(TCN2): c.1023G> A (p.Pro341=) single nucleotide variant Benign/Likely benign rs76802001 GRCh37 Chromosome 22, 31013399: 31013399
41 TCN2 NM_000355.3(TCN2): c.1196G> A (p.Arg399Gln) single nucleotide variant Benign/Likely benign rs4820889 GRCh38 Chromosome 22, 30623057: 30623057
42 TCN2 NM_000355.3(TCN2): c.1196G> A (p.Arg399Gln) single nucleotide variant Benign/Likely benign rs4820889 GRCh37 Chromosome 22, 31019044: 31019044
43 TCN2 NM_000355.3(TCN2): c.*29C> A single nucleotide variant Likely benign rs190828416 GRCh38 Chromosome 22, 30626550: 30626550
44 TCN2 NM_000355.3(TCN2): c.*29C> A single nucleotide variant Likely benign rs190828416 GRCh37 Chromosome 22, 31022537: 31022537
45 TCN2 NM_000355.3(TCN2): c.*93G> C single nucleotide variant Uncertain significance rs886057398 GRCh38 Chromosome 22, 30626614: 30626614
46 TCN2 NM_000355.3(TCN2): c.*93G> C single nucleotide variant Uncertain significance rs886057398 GRCh37 Chromosome 22, 31022601: 31022601
47 TCN2 NM_000355.3(TCN2): c.*127C> T single nucleotide variant Likely benign rs12160073 GRCh38 Chromosome 22, 30626648: 30626648
48 TCN2 NM_000355.3(TCN2): c.*127C> T single nucleotide variant Likely benign rs12160073 GRCh37 Chromosome 22, 31022635: 31022635
49 TCN2 NM_000355.3(TCN2): c.*381T> G single nucleotide variant Uncertain significance rs149713328 GRCh38 Chromosome 22, 30626902: 30626902
50 TCN2 NM_000355.3(TCN2): c.*381T> G single nucleotide variant Uncertain significance rs149713328 GRCh37 Chromosome 22, 31022889: 31022889

Expression for Transcobalamin Ii Deficiency

Search GEO for disease gene expression data for Transcobalamin Ii Deficiency.

Pathways for Transcobalamin Ii Deficiency

Pathways related to Transcobalamin Ii Deficiency according to KEGG:

37
# Name Kegg Source Accession
1 Vitamin digestion and absorption hsa04977

Pathways related to Transcobalamin Ii Deficiency according to GeneCards Suite gene sharing:

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.78 CBLIF DHFR KCNJ11 LMBRD1 MMAA MMADHC
2
Show member pathways
13.45 CBLIF KCNJ11 MMAA MMADHC MMUT MTR
3
Show member pathways
12.3 CBLIF DHFR LMBRD1 MMAA MMADHC MMUT
4
Show member pathways
12.19 CBLIF DHFR MMUT MTHFR MTR MTRR
5
Show member pathways
12.01 MMUT MTHFR MTR
6
Show member pathways
11.87 DHFR MTHFR MTR MTRR TCN2
7
Show member pathways
11.67 CBLIF MMAA MMADHC MMUT MTR MTRR
8 10.99 DHFR MTHFR
9 10.96 CBLIF LMBRD1 TCN2
10 10.6 CBLIF LMBRD1 MMAA MMADHC MMUT MTR
11
Show member pathways
10.06 MTR MTRR
12
Show member pathways
10.03 MMAA MMUT

GO Terms for Transcobalamin Ii Deficiency

Biological processes related to Transcobalamin Ii Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 folic acid metabolic process GO:0046655 9.54 DHFR MTHFR MTRR
2 methionine biosynthetic process GO:0009086 9.5 MTHFR MTR MTRR
3 one-carbon metabolic process GO:0006730 9.48 DHFR MTHFR
4 axon regeneration GO:0031103 9.46 DHFR MTR
5 tetrahydrofolate metabolic process GO:0046653 9.43 DHFR MTHFR
6 homocysteine metabolic process GO:0050667 9.43 MMUT MTHFR MTRR
7 methionine metabolic process GO:0006555 9.4 MTHFR MTRR
8 cobalt ion transport GO:0006824 9.33 CBLIF TCN1 TCN2
9 cobalamin metabolic process GO:0009235 9.28 CBLIF LMBRD1 MMAA MMADHC MMUT MTR
10 cobalamin transport GO:0015889 9.26 CBLIF LMBRD1 TCN1 TCN2

Molecular functions related to Transcobalamin Ii Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 FAD binding GO:0071949 9.32 MTHFR MTRR
2 NADPH binding GO:0070402 9.26 DHFR MTRR
3 modified amino acid binding GO:0072341 9.16 MMUT MTHFR
4 NADP binding GO:0050661 9.13 DHFR MTHFR MTRR
5 cobalamin binding GO:0031419 9.1 CBLIF LMBRD1 MMUT MTR TCN1 TCN2

Sources for Transcobalamin Ii Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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