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 58 12 60 76 38 30 13 56 6 15 41 74
Tcn2 Deficiency 58 12 76
Inherited Deficiency of Transcobalamin 60
Transcobalamin Deficiency 60
Transcobalamin Ii 13
Tc Ii Deficiency 58

Characteristics:

Orphanet epidemiological data:

60
transcobalamin deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM:

58
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:

33
transcobalamin ii deficiency:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Transcobalamin Ii Deficiency

OMIM : 58 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 vitamin b12 deficiency, 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 : 76 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 top 50) (show all 53)
# Related Disease Score Top Affiliating Genes
1 neural tube defects, folate-sensitive 29.8 MTHFR MTR MTRR
2 vitamin b12 deficiency 29.5 MTHFR MTR TCN1 TCN2
3 neural tube defects 29.3 DHFR MTHFR MTR MTRR TCN2
4 homocystinuria 29.0 LMBRD1 MMADHC MTHFR MTR MTRR TCN2
5 megaloblastic anemia 28.1 CBLIF DHFR LMBRD1 MMADHC MTHFR MTR
6 transcobalamin deficiency 11.8
7 transcobalamin i deficiency 11.3
8 melioidosis 10.3
9 influenza 10.3
10 vitamin b12-responsive methylmalonic acidemia 10.2 MMAA MTR
11 pernicious anemia 10.2 CBLIF TCN1 TCN2
12 methylmalonic aciduria and homocystinuria type cble 10.2 MTR MTRR
13 methylmalonic aciduria and homocystinuria type cblg 10.2 MTR MTRR
14 malaria 10.1
15 leukemia 10.1
16 ulcerative colitis 10.1
17 colitis 10.1
18 organic acidemia 10.0 MMAA MMADHC
19 homocystinuria due to deficiency of n -methylenetetrahydrofolate reductase activity 10.0 MTHFR MTR
20 methylmalonic aciduria and homocystinuria, cblc type 10.0 MMD MTR
21 pulmonary artery disease 10.0 MTHFR PES1
22 colorectal cancer 10.0
23 astrocytoma 10.0
24 grade iii astrocytoma 10.0
25 retinal degeneration 10.0
26 nondisjunction 10.0 MTHFR MTRR
27 cardia cancer 9.9 MTHFR MTRR
28 pediatric osteosarcoma 9.9 DHFR MTHFR
29 central nervous system lymphoma 9.9 MTR TCN2
30 arteries, anomalies of 9.9
31 autoimmune disease 9.9
32 cryoglobulinemia, familial mixed 9.9
33 systemic lupus erythematosus 9.9
34 acute leukemia 9.9
35 coronary artery anomaly 9.9
36 crohn's disease 9.9
37 hemophagocytic lymphohistiocytosis 9.9
38 protein-energy malnutrition 9.9
39 dementia 9.9
40 typhoid fever 9.9
41 scrub typhus 9.9
42 gaucher's disease 9.9
43 cryoglobulinemia 9.9
44 lupus erythematosus 9.9
45 distal trisomy 3p 9.9
46 adult acute lymphocytic leukemia 9.9 MTHFR MTR
47 disorders of intracellular cobalamin metabolism 9.8 LMBRD1 MMADHC MTR MTRR
48 homocysteinemia 9.8 MTHFR MTR MTRR
49 anencephaly 9.8 MTHFR MTR MTRR
50 vitamin metabolic disorder 9.4 LMBRD1 MMADHC MTHFR MTR TCN1 TCN2

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



Diseases related to Transcobalamin Ii Deficiency

Symptoms & Phenotypes for Transcobalamin Ii Deficiency

Human phenotypes related to Transcobalamin Ii Deficiency:

60 33 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pancytopenia 60 33 Frequent (79-30%) HP:0001876
2 neutropenia 60 33 Frequent (79-30%) HP:0001875
3 methylmalonic aciduria 60 33 Very frequent (99-80%) HP:0012120
4 megaloblastic bone marrow 60 33 Very frequent (99-80%) HP:0001980
5 intellectual disability 33 HP:0001249
6 ataxia 33 HP:0001251
7 muscle weakness 33 HP:0001324
8 failure to thrive 33 HP:0001508
9 vomiting 33 HP:0002013
10 irritability 33 HP:0000737
11 thrombocytopenia 60 Frequent (79-30%)
12 decreased antibody level in blood 60 Frequent (79-30%)
13 abnormality of the mouth 33 HP:0000153
14 lymphopenia 60 Frequent (79-30%)
15 abnormality of chromosome stability 60 Very frequent (99-80%)
16 diarrhea 33 HP:0002014
17 lethargy 33 HP:0001254
18 acute kidney injury 60 Very frequent (99-80%)
19 iga deficiency 60 Frequent (79-30%)
20 macrocytic anemia 33 HP:0001972
21 igm deficiency 60 Frequent (79-30%)
22 igg deficiency 60 Frequent (79-30%)
23 reticulocytopenia 33 HP:0001896
24 decreased circulating iga level 33 HP:0002720
25 decreased circulating total igm 33 HP:0002850
26 decreased circulating igg level 33 HP:0004315

Symptoms via clinical synopsis from OMIM:

58
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

UMLS symptoms related to Transcobalamin Ii Deficiency:


vomiting, diarrhea, lethargy, weakness

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

27 (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 30 TCN2

Anatomical Context for Transcobalamin Ii Deficiency

MalaCards organs/tissues related to Transcobalamin Ii Deficiency:

42
Bone, Bone Marrow, Kidney, Testes, Myeloid, Globus Pallidus

Publications for Transcobalamin Ii Deficiency

Articles related to Transcobalamin Ii Deficiency:

(show all 41)
# 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
Correction: Congenital Transcobalamin II Deficiency: A Rare Entity with a Broad Differential. ( 30562813 )
2017
6
Transcobalamin II Deficiency in Four Cases with Novel Mutations. ( 25914105 )
2015
7
Novel Mutation in an Indian Patient with Transcobalamin II Deficiency. ( 25947267 )
2015
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 II deficiency at birth. ( 19581117 )
2009
10
Retinopathy in inherited Transcobalamin II deficiency. ( 18195238 )
2008
11
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
12
Hereditary partial transcobalamin II deficiency with neurologic, mental and hematologic abnormalities in children and adults. ( 14689755 )
2003
13
Congenital transcobalamin II deficiency due to errors in RNA editing. ( 12064907 )
2002
14
Favorable long-term outcome of a patient with transcobalamin II deficiency. ( 12379088 )
2002
15
Retinal degeneration associated with congenital transcobalamin II deficiency. ( 11448334 )
2001
16
Transcobalamin II deficiency with methylmalonic aciduria in three sisters. ( 10518276 )
1999
17
[Transcobalamin II deficiency]. ( 9645045 )
1998
18
Hereditary transcobalamin II deficiency: a 22 year follow up. ( 9048724 )
1997
19
Long-term follow up of patients with transcobalamin II deficiency. ( 7741573 )
1995
20
Nonsense mutations in human transcobalamin II deficiency. ( 7980584 )
1994
21
Cytogenetic findings of a child with transcobalamin II deficiency. ( 8362900 )
1993
22
The neurologic aspects of transcobalamin II deficiency. ( 1536799 )
1992
23
Transcobalamin II deficiency: case report and review of the literature. ( 1743216 )
1991
24
Transcobalamin II deficiency presenting with methylmalonic aciduria and homocystinuria and abnormal absorption of cobalamin. ( 2309761 )
1990
25
Transcobalamin II deficiency: long-term follow-up of two cases. ( 3143215 )
1988
26
Prenatal studies in a family with transcobalamin II deficiency. ( 3661564 )
1987
27
Transcobalamin II deficiency and oral cobalamin therapy. ( 3697511 )
1986
28
Homozygous transcobalamin II deficiency maintained on oral hydroxocobalamin. ( 4052627 )
1985
29
Hereditary transcobalamin II deficiency with subnormal serum cobalamin levels. ( 6493881 )
1984
30
Transcobalamin II deficiency in infancy and the diagnostic value of serum B12 binders. ( 6505632 )
1984
31
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
32
Transcobalamin II deficiency associated with unusual bone marrow findings and chromosomal abnormalities. ( 6837569 )
1983
33
Neurological involvement in hereditary transcobalamin II deficiency. ( 7062075 )
1982
34
Hereditary transcobalamin II deficiency presenting as red cell hypoplasia. ( 7131148 )
1982
35
Uptake and metabolism of free cyanocobalamin by cultured human fibroblasts from controls and a patient with transcobalamin II deficiency. ( 7207198 )
1981
36
Defective adenosylcobalamin synthesis in a case of transcobalamin II deficiency. ( 6775148 )
1980
37
Granulocyte dysfunction in transcobalamin II deficiency responding to leucovorin or hydroxocobalamin-plasma transfusion. ( 6774168 )
1980
38
Immunodeficiency due to transcobalamin II deficiency. ( 259045 )
1978
39
Hereditary transcobalamin II deficiency: clinical findings in a new family. ( 4138209 )
1974
40
Hereditary transcobalamin II deficiency: the role of transcobalamin II in vitamin B 12 -mediated reactions. ( 4643028 )
1972
41
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.626C> G (p.Ser209Ter) single nucleotide variant not provided rs796064505 GRCh37 Chromosome 22, 31011333: 31011333
2 TCN2 NM_000355.3(TCN2): c.626C> G (p.Ser209Ter) single nucleotide variant not provided rs796064505 GRCh38 Chromosome 22, 30615346: 30615346
3 TCN2 NM_000355.3(TCN2): c.927_930delTCTG (p.Cys309Trpfs) deletion Pathogenic rs1157135425 GRCh38 Chromosome 22, 30615774: 30615777
4 TCN2 NM_000355.3(TCN2): c.927_930delTCTG (p.Cys309Trpfs) deletion Pathogenic rs1157135425 GRCh37 Chromosome 22, 31011761: 31011764
5 TCN2 NM_000355.3(TCN2): c.776G> C (p.Arg259Pro) single nucleotide variant Benign rs1801198 GRCh37 Chromosome 22, 31011610: 31011610
6 TCN2 NM_000355.3(TCN2): c.776G> C (p.Arg259Pro) single nucleotide variant Benign rs1801198 GRCh38 Chromosome 22, 30615623: 30615623
7 TCN2 NM_000355.3(TCN2): c.-181A> C single nucleotide variant Uncertain significance rs2240433 GRCh38 Chromosome 22, 30607151: 30607151
8 TCN2 NM_000355.3(TCN2): c.-181A> C single nucleotide variant Uncertain significance rs2240433 GRCh37 Chromosome 22, 31003138: 31003138
9 TCN2 NM_000355.3(TCN2): c.-98T> G single nucleotide variant Uncertain significance rs370882214 GRCh37 Chromosome 22, 31003221: 31003221
10 TCN2 NM_000355.3(TCN2): c.-98T> G single nucleotide variant Uncertain significance rs370882214 GRCh38 Chromosome 22, 30607234: 30607234
11 TCN2 NM_000355.3(TCN2): c.-34A> G single nucleotide variant Uncertain significance rs199511962 GRCh37 Chromosome 22, 31003285: 31003285
12 TCN2 NM_000355.3(TCN2): c.-34A> G single nucleotide variant Uncertain significance rs199511962 GRCh38 Chromosome 22, 30607298: 30607298
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.*82C> T single nucleotide variant Likely benign rs12169610 GRCh38 Chromosome 22, 30626603: 30626603
18 TCN2 NM_000355.3(TCN2): c.921A> C (p.Pro307=) single nucleotide variant Conflicting interpretations of pathogenicity rs138738105 GRCh38 Chromosome 22, 30615768: 30615768
19 TCN2 NM_000355.3(TCN2): c.921A> C (p.Pro307=) single nucleotide variant Conflicting interpretations of pathogenicity rs138738105 GRCh37 Chromosome 22, 31011755: 31011755
20 TCN2 NM_000355.3(TCN2): c.941-13C> T single nucleotide variant Uncertain significance rs192009509 GRCh38 Chromosome 22, 30617317: 30617317
21 TCN2 NM_000355.3(TCN2): c.941-13C> T single nucleotide variant Uncertain significance rs192009509 GRCh37 Chromosome 22, 31013304: 31013304
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:

38
# Name Kegg Source Accession
1 Vitamin digestion and absorption hsa04977

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

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.77 CBLIF DHFR LMBRD1 MMAA MMADHC MMUT
2
Show member pathways
13.37 CBLIF MMAA MMADHC MMUT MTR MTRR
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 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 10.97 DHFR MTHFR
9 10.92 CBLIF LMBRD1 TCN2
10 10.6 CBLIF LMBRD1 MMAA MMADHC MMUT MTR
11
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:

(show all 11)
# 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 cellular amino acid biosynthetic process GO:0008652 9.49 MTR MTRR
4 one-carbon metabolic process GO:0006730 9.48 DHFR MTHFR
5 axon regeneration GO:0031103 9.46 DHFR MTR
6 tetrahydrofolate metabolic process GO:0046653 9.43 DHFR MTHFR
7 homocysteine metabolic process GO:0050667 9.43 MMUT MTHFR MTRR
8 methionine metabolic process GO:0006555 9.4 MTHFR MTRR
9 cobalt ion transport GO:0006824 9.33 CBLIF TCN1 TCN2
10 cobalamin metabolic process GO:0009235 9.28 CBLIF LMBRD1 MMAA MMADHC MMUT MTR
11 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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