MCID: TRN067
MIFTS: 18

Transcobalamin I Deficiency

Categories: Metabolic diseases, Rare diseases

Aliases & Classifications for Transcobalamin I Deficiency

MalaCards integrated aliases for Transcobalamin I Deficiency:

Name: Transcobalamin I Deficiency 58 60 30 6 74
Cobalamin Pseudodeficiency Due to Transcobalamin Deficiency 58 54
Cobalamin R Binder Protein Deficiency 58 54
Tcn1 Deficiency 58 54
Transcobalamin 1 Deficiency 54
Transcobalamin-1 Deficiency 60
Haptocorrin Deficiency 60
Transcobalamin I 13
Tci Deficiency 60

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
considered a benign disorder


HPO:

33
transcobalamin i deficiency:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Inborn errors of metabolism


External Ids:

OMIM 58 193090
ICD10 via Orphanet 35 E53.8
UMLS via Orphanet 75 C0342700
Orphanet 60 ORPHA2967
MedGen 43 C0342700
SNOMED-CT via HPO 70 258211005 263681008 91019004
UMLS 74 C0342700

Summaries for Transcobalamin I Deficiency

MalaCards based summary : Transcobalamin I Deficiency, also known as cobalamin pseudodeficiency due to transcobalamin deficiency, is related to prostate cancer and colorectal adenoma. An important gene associated with Transcobalamin I Deficiency is TCN1 (Transcobalamin 1). Related phenotypes are abnormality of metabolism/homeostasis and reduced tendon reflexes

Description from OMIM: 193090

Related Diseases for Transcobalamin I Deficiency

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

# Related Disease Score Top Affiliating Genes
1 prostate cancer 10.4
2 colorectal adenoma 10.4
3 sinusitis 10.4
4 chronic interstitial cystitis 10.4
5 psoriasis 10.4
6 transcobalamin ii deficiency 9.9
7 transcobalamin deficiency 9.9

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



Diseases related to Transcobalamin I Deficiency

Symptoms & Phenotypes for Transcobalamin I Deficiency

Human phenotypes related to Transcobalamin I Deficiency:

33
# Description HPO Frequency HPO Source Accession
1 abnormality of metabolism/homeostasis 33 HP:0001939
2 reduced tendon reflexes 33 HP:0001315
3 paresthesia 33 HP:0003401

Symptoms via clinical synopsis from OMIM:

58
Hematology:
mean corpuscular volume may mildly increased or normal

Laboratory Abnormalities:
decreased serum cobalamin
decreased transcobalamin i in saliva, serum, gastric juice, and cerebrospinal fluid
decreased serum and salivary lactoferrin has been described in 1 family

Clinical features from OMIM:

193090

Drugs & Therapeutics for Transcobalamin I Deficiency

Search Clinical Trials , NIH Clinical Center for Transcobalamin I Deficiency

Genetic Tests for Transcobalamin I Deficiency

Genetic tests related to Transcobalamin I Deficiency:

# Genetic test Affiliating Genes
1 Transcobalamin I Deficiency 30

Anatomical Context for Transcobalamin I Deficiency

Publications for Transcobalamin I Deficiency

Articles related to Transcobalamin I Deficiency:

# Title Authors Year
1
Cobalamin pseudodeficiency due to a transcobalamin I deficiency. ( 12356110 )
2002

Variations for Transcobalamin I Deficiency

ClinVar genetic disease variations for Transcobalamin I Deficiency:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TCN1 NM_001062.3(TCN1): c.104G> A (p.Arg35His) single nucleotide variant Benign rs34528912 GRCh37 Chromosome 11, 59631535: 59631535
2 TCN1 NM_001062.3(TCN1): c.104G> A (p.Arg35His) single nucleotide variant Benign rs34528912 GRCh38 Chromosome 11, 59864062: 59864062
3 TCN1 NM_001062.3(TCN1): c.706G> A (p.Gly236Ser) single nucleotide variant Uncertain significance rs1242630410 GRCh38 Chromosome 11, 59859118: 59859118
4 TCN1 NM_001062.3(TCN1): c.706G> A (p.Gly236Ser) single nucleotide variant Uncertain significance rs1242630410 GRCh37 Chromosome 11, 59626591: 59626591
5 TCN1 NM_001062.3(TCN1): c.26delT (p.Leu9Glnfs) deletion Pathogenic GRCh38 Chromosome 11, 59866445: 59866445
6 TCN1 NM_001062.3(TCN1): c.26delT (p.Leu9Glnfs) deletion Pathogenic GRCh37 Chromosome 11, 59633918: 59633918

Expression for Transcobalamin I Deficiency

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

Pathways for Transcobalamin I Deficiency

GO Terms for Transcobalamin I Deficiency

Sources for Transcobalamin I 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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