MCID: TRN067
MIFTS: 19

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 56 58 29 6 71
Cobalamin Pseudodeficiency Due to Transcobalamin Deficiency 56 52
Cobalamin R Binder Protein Deficiency 56 52
Tcn1 Deficiency 56 52
Transcobalamin 1 Deficiency 52
Transcobalamin-1 Deficiency 58
Haptocorrin Deficiency 58
Tci Deficiency 58

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
considered a benign disorder


HPO:

31
transcobalamin i deficiency:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Inborn errors of metabolism


External Ids:

OMIM 56 193090
ICD10 via Orphanet 33 E53.8
UMLS via Orphanet 72 C0342700
Orphanet 58 ORPHA2967
MedGen 41 C0342700
SNOMED-CT via HPO 68 258211005 263681008 91019004
UMLS 71 C0342700

Summaries for Transcobalamin I Deficiency

MalaCards based summary : Transcobalamin I Deficiency, also known as cobalamin pseudodeficiency due to transcobalamin deficiency, is related to vitamin b12 deficiency. An important gene associated with Transcobalamin I Deficiency is TCN1 (Transcobalamin 1). Related phenotypes are abnormality of metabolism/homeostasis and reduced tendon reflexes

More information 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 vitamin b12 deficiency 10.0

Symptoms & Phenotypes for Transcobalamin I Deficiency

Human phenotypes related to Transcobalamin I Deficiency:

31
# Description HPO Frequency HPO Source Accession
1 abnormality of metabolism/homeostasis 31 HP:0001939
2 reduced tendon reflexes 31 HP:0001315
3 paresthesia 31 HP:0003401

Symptoms via clinical synopsis from OMIM:

56
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 29

Anatomical Context for Transcobalamin I Deficiency

Publications for Transcobalamin I Deficiency

Articles related to Transcobalamin I Deficiency:

# Title Authors PMID Year
1
Cobalamin pseudodeficiency due to a transcobalamin I deficiency. 61 56
12356110 2002
2
Deficiency of the specific granule proteins, R-binder/transcobalamin I and lactoferrin, in plasma and saliva: a new disorder. 56
11298376 2001
3
Plasma R binder deficiency and neurologic disease. 56
3683461 1987
4
R-binder deficiency. A clinically benign cause of cobalamin pseudodeficiency. 56
6620485 1983
5
A new case of deficiency of the R binder for cobalamin, with observations on minor cobalamin-binding proteins in serum and saliva. 56
7053761 1982
6
Congenital deficiency of human R-type binding proteins of cobalamin. 56
930926 1977
7
Deficiency of vitamin B12-binding alpha globulin in two brothers. 56
4178969 1969

Variations for Transcobalamin I Deficiency

ClinVar genetic disease variations for Transcobalamin I Deficiency:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TCN1 NM_001062.4(TCN1):c.26del (p.Leu9fs)deletion Pathogenic 568555 rs1209702636 11:59633918-59633918 11:59866445-59866445
2 TCN1 NM_001062.4(TCN1):c.776A>G (p.Asn259Ser)SNV Uncertain significance 659004 11:59623503-59623503 11:59856030-59856030
3 TCN1 NM_001062.4(TCN1):c.706G>A (p.Gly236Ser)SNV Uncertain significance 529775 rs1242630410 11:59626591-59626591 11:59859118-59859118
4 TCN1 NM_001062.4(TCN1):c.104G>A (p.Arg35His)SNV Benign 460313 rs34528912 11:59631535-59631535 11:59864062-59864062

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
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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