TCN2 DEFICIENCY
MCID: TRN022
MIFTS: 44

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 58 72 36 13 54 15 39 70 32
Tcn2 Deficiency 57 12 72
Tc Ii Deficiency 57 6
Inherited Deficiency of Transcobalamin 58
Transcobalamin Deficiency 58

Characteristics:

Orphanet epidemiological data:

58
transcobalamin deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM®:

57 (Updated 05-Apr-2021)
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:

31
transcobalamin ii deficiency:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Inborn errors of metabolism
Rare haematological diseases
Rare immunological diseases


External Ids:

Disease Ontology 12 DOID:0050818
OMIM® 57 275350
KEGG 36 H01190
ICD10 32 D51.2
ICD10 via Orphanet 33 D51.2
UMLS via Orphanet 71 C0342701
Orphanet 58 ORPHA859
MedGen 41 C0342701
UMLS 70 C0342701

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) (Updated 05-Apr-2021)

MalaCards based summary : Transcobalamin Ii Deficiency, also known as tcn2 deficiency, is related to glossitis and pancytopenia, and has symptoms including vomiting, lethargy and diarrhea. 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 of water-soluble vitamins and cofactors. Affiliated tissues include bone marrow, bone and kidney, and related phenotypes are neutropenia and methylmalonic aciduria

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.

KEGG : 36 Transcobalamin (TC) II deficiency is a rare autosomal recessive disorder of vitamin B12 (cobalamin, Cbl) transport that leads to intracellular Cbl depletion with secondary impairment of methionine synthetase and methyl-malonyl CoA mutase activities. This disorder presents with failure to thrive, mucosal ulceration, vomiting, diarrhoea, lethargy, irritability, and occasionally immunological dysfunction. Affected individuals may suffer from long-term neurological sequelae if therapy with intramuscular hydroxocobalamin is not initiated promptly. Mutations in the TCN2 gene are known to cause.

UniProtKB/Swiss-Prot : 72 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 56)
# Related Disease Score Top Affiliating Genes
1 glossitis 29.9 TCN2 LMBRD1
2 pancytopenia 29.9 U2AF1 TCN2 CBLIF
3 homocystinuria 29.8 TCN2 LMBRD1
4 methylmalonic acidemia 29.7 TCN2 TCN1 LMBRD1
5 megaloblastic anemia 29.6 TCN2 TCN1 LMBRD1 CBLIF
6 macrocytic anemia 29.5 U2AF1 TCN2
7 vitamin b12 deficiency 29.4 TCN2 TCN1 LMBRD1 CBLIF
8 neural tube defects 29.3 TCN2 TCN1 CBLIF
9 transcobalamin deficiency 11.5
10 transcobalamin i deficiency 11.2
11 agammaglobulinemia 10.3
12 constitutional megaloblastic anemia due to vitamin b12 metabolism disorder 10.3
13 neutropenia 10.1
14 diarrhea 10.1
15 combined immunodeficiency 10.0
16 severe combined immunodeficiency 10.0
17 lynch syndrome i 10.0
18 glioma susceptibility 1 10.0
19 stroke, ischemic 10.0
20 tumor predisposition syndrome 10.0
21 cutaneous telangiectasia and cancer syndrome, familial 10.0
22 mismatch repair cancer syndrome 4 10.0
23 hemophagocytic lymphohistiocytosis 10.0
24 autosomal recessive disease 10.0
25 protein-losing enteropathy 10.0
26 avoidant personality disorder 10.0
27 personality disorder 10.0
28 malignant astrocytoma 10.0
29 anaplastic astrocytoma 10.0
30 lynch syndrome 10.0
31 dyslexia 10.0
32 peripheral nervous system disease 10.0
33 lymphopenia 10.0
34 axonal neuropathy 10.0
35 retinal degeneration 10.0
36 neuropathy 10.0
37 stomatitis 10.0
38 ulcerative stomatitis 10.0
39 disorders of intracellular cobalamin metabolism 10.0
40 methylmalonic acidemia with homocystinuria 10.0
41 hypotonia 10.0
42 inherited cancer-predisposing syndrome 10.0
43 46,xy disorder of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect 10.0
44 hereditary nonpolyposis colon cancer 10.0
45 congenital intrinsic factor deficiency 10.0 TCN2 CBLIF
46 homocysteinemia 9.9
47 autism spectrum disorder 9.9
48 thrombocytopenia 9.9
49 neonatal leukemia 9.9
50 tropical sprue 9.9 TCN1 CBLIF

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:

58 31 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 neutropenia 58 31 Frequent (79-30%) HP:0001875
2 methylmalonic aciduria 58 31 Very frequent (99-80%) HP:0012120
3 pancytopenia 58 31 Frequent (79-30%) HP:0001876
4 megaloblastic bone marrow 58 31 Very frequent (99-80%) HP:0001980
5 decreased circulating iga level 58 31 Frequent (79-30%) HP:0002720
6 decreased circulating igg level 58 31 Frequent (79-30%) HP:0004315
7 decreased circulating total igm 58 31 Frequent (79-30%) HP:0002850
8 intellectual disability 31 HP:0001249
9 failure to thrive 31 HP:0001508
10 ataxia 31 HP:0001251
11 muscle weakness 31 HP:0001324
12 vomiting 31 HP:0002013
13 irritability 31 HP:0000737
14 thrombocytopenia 58 Frequent (79-30%)
15 decreased antibody level in blood 58 Frequent (79-30%)
16 lymphopenia 58 Frequent (79-30%)
17 abnormality of chromosome stability 58 Very frequent (99-80%)
18 abnormality of the mouth 31 HP:0000153
19 lethargy 31 HP:0001254
20 diarrhea 31 HP:0002014
21 macrocytic anemia 31 HP:0001972
22 acute kidney injury 58 Very frequent (99-80%)
23 reticulocytopenia 31 HP:0001896

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Growth Other:
failure to thrive

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

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

Hematology:
neutropenia
pancytopenia
megaloblastic bone marrow
macrocytic anemia
reticulocytopenia

Muscle Soft Tissue:
weakness

Head And Neck Mouth:
mucosal ulceration

Clinical features from OMIM®:

275350 (Updated 05-Apr-2021)

UMLS symptoms related to Transcobalamin Ii Deficiency:


vomiting; lethargy; diarrhea; weakness

Drugs & Therapeutics for Transcobalamin Ii Deficiency

Search Clinical Trials , NIH Clinical Center for Transcobalamin Ii Deficiency

Genetic Tests for Transcobalamin Ii Deficiency

Anatomical Context for Transcobalamin Ii Deficiency

MalaCards organs/tissues related to Transcobalamin Ii Deficiency:

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

Publications for Transcobalamin Ii Deficiency

Articles related to Transcobalamin Ii Deficiency:

(show top 50) (show all 70)
# Title Authors PMID Year
1
Transcobalamin II deficiency with methylmalonic aciduria in three sisters. 54 61 6 57
10518276 1999
2
TC II deficiency: avoidance of false-negative molecular genetics by RNA-based investigations. 57 6
19373259 2009
3
Transcobalamin deficiency due to activation of an intra exonic cryptic splice site. 6 57
14632784 2003
4
Identification of two mutant alleles of transcobalamin II in an affected family. 6 57
7849710 1994
5
Nonsense mutations in human transcobalamin II deficiency. 61 54 6
7980584 1994
6
Cytogenetic findings of a child with transcobalamin II deficiency. 54 61 57
8362900 1993
7
Transcobalamin II deficiency: case report and review of the literature. 61 54 57
1743216 1991
8
Transcobalamin II deficiency presenting with methylmalonic aciduria and homocystinuria and abnormal absorption of cobalamin. 57 54 61
2309761 1990
9
Transcobalamin II deficiency: long-term follow-up of two cases. 61 57
3143215 1988
10
Prenatal studies in a family with transcobalamin II deficiency. 61 57
3661564 1987
11
Homozygous transcobalamin II deficiency maintained on oral hydroxocobalamin. 57 61
4052627 1985
12
Hereditary transcobalamin II deficiency with subnormal serum cobalamin levels. 57 61
6493881 1984
13
[Inherited transcobalamin-II-deficiency: clinical, genetic studies and diagnosis using cultured fibroblasts]. 61 57
6668202 1983
14
Genetic patterns of transcobalamin II and the relationships with congenital defects. 61 57
6355816 1983
15
Hereditary transcobalamin II deficiency presenting as red cell hypoplasia. 61 57
7131148 1982
16
Neurological involvement in hereditary transcobalamin II deficiency. 61 57
7062075 1982
17
Granulocyte dysfunction in transcobalamin II deficiency responding to leucovorin or hydroxocobalamin-plasma transfusion. 57 61
6774168 1980
18
Hereditary transcobalamin II deficiency: clinical findings in a new family. 61 57
4138209 1974
19
Hereditary transcobalamin II deficiency: the role of transcobalamin II in vitamin B 12 -mediated reactions. 61 57
4643028 1972
20
Neonatal megaloblastic anemia due to inherited transcobalamin II deficiency in two siblings. 57 61
5096637 1971
21
Update on transcobalamin deficiency: clinical presentation, treatment and outcome. 6
24305960 2014
22
Should transcobalamin deficiency be treated aggressively? 6
20352340 2010
23
Single nucleotide polymorphisms in the transcobalamin gene: relationship with transcobalamin concentrations and risk for neural tube defects. 57
12107818 2002
24
Expression of transcobalamin II by amniocytes. 57
3823005 1987
25
Hereditary abnormal transcobalamin II previously diagnosed as congenital dihydrofolate reductase deficiency. 57
6700662 1984
26
Genetic evidence for fetal origin of transcobalamin II in human cord blood. 57
6860794 1983
27
Congenital disorders of vitamin B12 transport and their contributions to concepts. II. 57
7342493 1981
28
Studies of a patient with megaloblastic anemia and an abnormal transcobalamin II. 57
7421948 1980
29
Inherited lack of transcobalamin II in serum and megaloblastic anaemia: a further patient. 57
508619 1979
30
Evidence for intestinal origin of transcobalamin II during vitamin B12 absorption. 57
647333 1978
31
Dihydrofolate reductase deficiency causing megaloblastic anemia in two families. 57
1060915 1976
32
The role of vitamin B 12 and its transport globulins in the production of antibodies. 57
128427 1975
33
Transcobalamin II deficiency at birth. 61 54
19581117 2009
34
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 54
17993636 2008
35
Retinopathy in inherited Transcobalamin II deficiency. 54 61
18195238 2008
36
Hereditary partial transcobalamin II deficiency with neurologic, mental and hematologic abnormalities in children and adults. 61 54
14689755 2003
37
Linkage analysis of a large inbred family with congenital megaloblastic anemia. 61 54
12436132 2002
38
Favorable long-term outcome of a patient with transcobalamin II deficiency. 61 54
12379088 2002
39
Genetic defects of folate and cobalamin metabolism. 54 61
9587028 1998
40
[Transcobalamin II deficiency]. 61 54
9645045 1998
41
Long-term follow up of patients with transcobalamin II deficiency. 54 61
7741573 1995
42
The neurologic aspects of transcobalamin II deficiency. 61 54
1536799 1992
43
Retinopathy of transcobalamin II deficiency: long-term stability with treatment. 61
33476645 2021
44
Transcobalamin II deficiency in twins with a novel variant in the TCN2 gene: case report and review of literature. 61
32841161 2020
45
Different Presentations of Patients with Transcobalamin II Deficiency: A Single-Center Experience from Turkey 61
30185401 2019
46
Vacuolization of Myeloid Lineage and Multilineage Dysplasia in a Case of Transcobalamin II Deficiency. 61
30369758 2018
47
Correction: Congenital Transcobalamin II Deficiency: A Rare Entity with a Broad Differential. 61
30562813 2017
48
Congenital Transcobalamin II Deficiency: A Rare Entity with a Broad Differential. 61
29132166 2017
49
Trilineage dyspoiesis caused by transcobalamin II deficiency. 61
28522466 2017
50
Transcobalamin II Deficiency in Four Cases with Novel Mutations. 61
25914105 2015

Variations for Transcobalamin Ii Deficiency

ClinVar genetic disease variations for Transcobalamin Ii Deficiency:

6 (show top 50) (show all 177)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TCN2 NM_000355.4(TCN2):c.927_930del (p.Cys309fs) Deletion Pathogenic 96 rs1157135425 GRCh37: 22:31011758-31011761
GRCh38: 22:30615771-30615774
2 TCN2 NM_000355.4(TCN2):c.427+2T>G SNV Pathogenic 98 rs606231119 GRCh37: 22:31009031-31009031
GRCh38: 22:30613044-30613044
3 TCN2 TCN2, 2,152-BP DEL AND 4-BP INS Indel Pathogenic 99 GRCh37:
GRCh38:
4 TCN2 NM_000355.4(TCN2):c.581-176A>T SNV Pathogenic 100 rs372866837 GRCh37: 22:31011112-31011112
GRCh38: 22:30615125-30615125
5 TCN2 NM_000355.4(TCN2):c.766dup (p.Ser256fs) Duplication Pathogenic 460319 rs1555895066 GRCh37: 22:31011598-31011599
GRCh38: 22:30615611-30615612
6 TCN2 NC_000022.11:g.(?_30612853)_(30615807_?)del Deletion Pathogenic 653526 GRCh37: 22:31008840-31011794
GRCh38: 22:30612853-30615807
7 TCN2 NM_000355.4(TCN2):c.428-2_428-1del Deletion Pathogenic 658845 rs955351335 GRCh37: 22:31010334-31010335
GRCh38: 22:30614347-30614348
8 TCN2 NM_000355.4(TCN2):c.1117C>T (p.Gln373Ter) SNV Pathogenic 863309 GRCh37: 22:31018965-31018965
GRCh38: 22:30622978-30622978
9 TCN2 NM_000355.4(TCN2):c.236del (p.Gly79fs) Deletion Pathogenic 863753 GRCh37: 22:31007028-31007028
GRCh38: 22:30611041-30611041
10 TCN2 NM_000355.4(TCN2):c.249_255dup (p.Gly86fs) Duplication Pathogenic 803677 rs1602043738 GRCh37: 22:31007041-31007042
GRCh38: 22:30611054-30611055
11 TCN2 NM_000355.4(TCN2):c.1139dup (p.Tyr380Ter) Duplication Pathogenic 834649 GRCh37: 22:31018986-31018987
GRCh38: 22:30622999-30623000
12 TCN2 NM_000355.4(TCN2):c.86_87del (p.His29fs) Deletion Pathogenic 839980 GRCh37: 22:31006879-31006880
GRCh38: 22:30610892-30610893
13 TCN2 NM_000355.4(TCN2):c.426del (p.Ile142fs) Deletion Pathogenic 850875 GRCh37: 22:31009027-31009027
GRCh38: 22:30613040-30613040
14 TCN2 NM_000355.3(TCN2):c.497_498del (p.Leu166Profs) Microsatellite Pathogenic/Likely pathogenic 376919 rs778381859 GRCh37: 22:31010403-31010404
GRCh38: 22:30614416-30614417
15 TCN2 NM_000355.4(TCN2):c.700del (p.Gln234fs) Deletion Likely pathogenic 869152 GRCh37: 22:31011405-31011405
GRCh38: 22:30615418-30615418
16 TCN2 NM_000355.4(TCN2):c.428-2A>G SNV Likely pathogenic 942477 GRCh37: 22:31010334-31010334
GRCh38: 22:30614347-30614347
17 TCN2 NM_000355.4(TCN2):c.784G>C (p.Glu262Gln) SNV Conflicting interpretations of pathogenicity 791708 rs61743653 GRCh37: 22:31011618-31011618
GRCh38: 22:30615631-30615631
18 TCN2 NM_000355.4(TCN2):c.522C>T (p.Ser174=) SNV Conflicting interpretations of pathogenicity 779675 rs537115632 GRCh37: 22:31010430-31010430
GRCh38: 22:30614443-30614443
19 TCN2 NM_000355.4(TCN2):c.882C>T (p.Pro294=) SNV Conflicting interpretations of pathogenicity 756519 rs142689742 GRCh37: 22:31011716-31011716
GRCh38: 22:30615729-30615729
20 TCN2 NM_000355.4(TCN2):c.810G>A (p.Ala270=) SNV Conflicting interpretations of pathogenicity 460320 rs61748898 GRCh37: 22:31011644-31011644
GRCh38: 22:30615657-30615657
21 TCN2 NM_000355.4(TCN2):c.581-8A>G SNV Conflicting interpretations of pathogenicity 529779 rs7290898 GRCh37: 22:31011280-31011280
GRCh38: 22:30615293-30615293
22 TCN2 NM_000355.4(TCN2):c.296A>C (p.Lys99Thr) SNV Conflicting interpretations of pathogenicity 529780 rs150225103 GRCh37: 22:31008898-31008898
GRCh38: 22:30612911-30612911
23 TCN2 NM_000355.4(TCN2):c.428-4T>C SNV Conflicting interpretations of pathogenicity 341194 rs201408393 GRCh37: 22:31010332-31010332
GRCh38: 22:30614345-30614345
24 TCN2 NM_000355.4(TCN2):c.810G>T (p.Ala270=) SNV Conflicting interpretations of pathogenicity 341202 rs61748898 GRCh37: 22:31011644-31011644
GRCh38: 22:30615657-30615657
25 TCN2 NM_000355.4(TCN2):c.903C>T (p.Tyr301=) SNV Conflicting interpretations of pathogenicity 341205 rs146036025 GRCh37: 22:31011737-31011737
GRCh38: 22:30615750-30615750
26 TCN2 NM_000355.4(TCN2):c.138C>T (p.Ser46=) SNV Conflicting interpretations of pathogenicity 341189 rs143250551 GRCh37: 22:31006931-31006931
GRCh38: 22:30610944-30610944
27 TCN2 NM_000355.4(TCN2):c.921A>C (p.Pro307=) SNV Conflicting interpretations of pathogenicity 341206 rs138738105 GRCh37: 22:31011755-31011755
GRCh38: 22:30615768-30615768
28 TCN2 NM_000355.4(TCN2):c.1017C>G (p.Leu339=) SNV Uncertain significance 341209 rs35997415 GRCh37: 22:31013393-31013393
GRCh38: 22:30617406-30617406
29 TCN2 NM_000355.4(TCN2):c.64+11C>T SNV Uncertain significance 341187 rs141519384 GRCh37: 22:31003393-31003393
GRCh38: 22:30607406-30607406
30 TCN2 NM_000355.4(TCN2):c.-153C>G SNV Uncertain significance 341184 rs886057395 GRCh37: 22:31003166-31003166
GRCh38: 22:30607179-30607179
31 TCN2 NM_000355.4(TCN2):c.644G>A (p.Arg215Gln) SNV Uncertain significance 341201 rs760721315 GRCh37: 22:31011351-31011351
GRCh38: 22:30615364-30615364
32 TCN2 NM_001184726.1(TCN2):c.-191G>A SNV Uncertain significance 341181 rs886057394 GRCh37: 22:31003128-31003128
GRCh38: 22:30607141-30607141
33 TCN2 NM_000355.4(TCN2):c.-34A>G SNV Uncertain significance 341186 rs199511962 GRCh37: 22:31003285-31003285
GRCh38: 22:30607298-30607298
34 TCN2 NM_000355.4(TCN2):c.1092G>A (p.Glu364=) SNV Uncertain significance 341213 rs886057397 GRCh37: 22:31013468-31013468
GRCh38: 22:30617481-30617481
35 TCN2 NM_000355.4(TCN2):c.175C>T (p.Arg59Cys) SNV Uncertain significance 460315 rs757905563 GRCh37: 22:31006968-31006968
GRCh38: 22:30610981-30610981
36 TCN2 NM_000355.4(TCN2):c.70C>T (p.Pro24Ser) SNV Uncertain significance 460318 rs755866662 GRCh37: 22:31006863-31006863
GRCh38: 22:30610876-30610876
37 TCN2 NM_000355.4(TCN2):c.1237A>G (p.Arg413Gly) SNV Uncertain significance 529776 rs148963479 GRCh37: 22:31022461-31022461
GRCh38: 22:30626474-30626474
38 TCN2 NM_000355.4(TCN2):c.409G>A (p.Asp137Asn) SNV Uncertain significance 529777 rs775586639 GRCh37: 22:31009011-31009011
GRCh38: 22:30613024-30613024
39 TCN2 NM_000355.4(TCN2):c.809C>T (p.Ala270Val) SNV Uncertain significance 529778 rs201392026 GRCh37: 22:31011643-31011643
GRCh38: 22:30615656-30615656
40 TCN2 NM_000355.4(TCN2):c.562C>T (p.Gln188Ter) SNV Uncertain significance 440326 rs1456983114 GRCh37: 22:31010470-31010470
GRCh38: 22:30614483-30614483
41 TCN2 NM_000355.4(TCN2):c.1052C>T (p.Ala351Val) SNV Uncertain significance 642073 rs951348375 GRCh37: 22:31013428-31013428
GRCh38: 22:30617441-30617441
42 TCN2 NM_000355.4(TCN2):c.109C>T (p.His37Tyr) SNV Uncertain significance 643172 rs1326813642 GRCh37: 22:31006902-31006902
GRCh38: 22:30610915-30610915
43 TCN2 NM_000355.4(TCN2):c.843A>T (p.Gly281=) SNV Uncertain significance 643889 rs979235252 GRCh37: 22:31011677-31011677
GRCh38: 22:30615690-30615690
44 TCN2 NM_000355.4(TCN2):c.323A>T (p.Tyr108Phe) SNV Uncertain significance 566888 rs781309237 GRCh37: 22:31008925-31008925
GRCh38: 22:30612938-30612938
45 TCN2 NM_000355.4(TCN2):c.299C>T (p.Pro100Leu) SNV Uncertain significance 570953 rs752901101 GRCh37: 22:31008901-31008901
GRCh38: 22:30612914-30612914
46 TCN2 NM_000355.4(TCN2):c.1246G>A (p.Asp416Asn) SNV Uncertain significance 570957 rs773473997 GRCh37: 22:31022470-31022470
GRCh38: 22:30626483-30626483
47 TCN2 NM_000355.4(TCN2):c.164A>G (p.Tyr55Cys) SNV Uncertain significance 573502 rs201701227 GRCh37: 22:31006957-31006957
GRCh38: 22:30610970-30610970
48 TCN2 NM_000355.4(TCN2):c.1168G>A (p.Gly390Arg) SNV Uncertain significance 626028 rs367605153 GRCh37: 22:31019016-31019016
GRCh38: 22:30623029-30623029
49 TCN2 NM_000355.4(TCN2):c.1195C>G (p.Arg399Gly) SNV Uncertain significance 626029 rs769817524 GRCh37: 22:31019043-31019043
GRCh38: 22:30623056-30623056
50 TCN2 NM_000355.4(TCN2):c.1235A>G (p.Tyr412Cys) SNV Uncertain significance 626030 rs745363222 GRCh37: 22:31022459-31022459
GRCh38: 22:30626472-30626472

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:

36
# Name Kegg Source Accession
1 Vitamin digestion and absorption hsa04977

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.06 TCN2 TCN1 LMBRD1 CBLIF
2
Show member pathways
11.77 TCN2 TCN1 CBLIF
3
Show member pathways
11.29 TCN2 CBLIF
4 10.51 TCN2 LMBRD1 CBLIF
5 10.25 TCN2 TCN1 LMBRD1 CBLIF

GO Terms for Transcobalamin Ii Deficiency

Cellular components related to Transcobalamin Ii Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lysosomal lumen GO:0043202 8.62 TCN2 CBLIF

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

# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.43 TCN2 TCN1 CBLIF
2 cobalt ion transport GO:0006824 9.33 TCN2 TCN1 CBLIF
3 cobalamin metabolic process GO:0009235 9.26 TCN2 TCN1 LMBRD1 CBLIF
4 cobalamin transport GO:0015889 8.92 TCN2 TCN1 LMBRD1 CBLIF

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

# Name GO ID Score Top Affiliating Genes
1 cobalamin binding GO:0031419 8.92 TCN2 TCN1 LMBRD1 CBLIF

Sources for Transcobalamin Ii Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
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