MCID: TRN067
MIFTS: 20

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 57 59 29 6 73
Cobalamin Pseudodeficiency Due to Transcobalamin Deficiency 57 53
Cobalamin R Binder Protein Deficiency 57 53
Tcn1 Deficiency 57 53
Transcobalamin 1 Deficiency 53
Transcobalamin-1 Deficiency 59
Haptocorrin Deficiency 59
Transcobalamin I 13
Tci Deficiency 59

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
considered a benign disorder


HPO:

32
transcobalamin i deficiency:
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Inborn errors of metabolism


External Ids:

OMIM 57 193090
Orphanet 59 ORPHA2967
ICD10 via Orphanet 34 E53.8
UMLS via Orphanet 74 C0342700
MedGen 42 C0342700
SNOMED-CT via HPO 69 263681008 258211005 91019004
UMLS 73 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). Affiliated tissues include prostate, and 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 10.3
2 colorectal adenoma 10.3
3 sinusitis 10.3
4 chronic interstitial cystitis 10.3
5 psoriasis 10.3
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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Transcobalamin I Deficiency:

32
# Description HPO Frequency HPO Source Accession
1 abnormality of metabolism/homeostasis 32 HP:0001939
2 reduced tendon reflexes 32 HP:0001315
3 paresthesia 32 HP:0003401

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 29

Anatomical Context for Transcobalamin I Deficiency

MalaCards organs/tissues related to Transcobalamin I Deficiency:

41
Prostate

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 GRCh38 Chromosome 11, 59864062: 59864062
2 TCN1 NM_001062.3(TCN1): c.104G> A (p.Arg35His) single nucleotide variant Benign rs34528912 GRCh37 Chromosome 11, 59631535: 59631535
3 TCN1 NM_001062.3(TCN1): c.706G> A (p.Gly236Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 59859118: 59859118
4 TCN1 NM_001062.3(TCN1): c.706G> A (p.Gly236Ser) single nucleotide variant Uncertain significance 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 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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