MCID: TRN067
MIFTS: 21

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 58 29 6 70
Cobalamin Pseudodeficiency Due to Transcobalamin Deficiency 57 20
Cobalamin R Binder Protein Deficiency 57 20
Tcn1 Deficiency 57 20
Transcobalamin 1 Deficiency 20
Transcobalamin-1 Deficiency 58
Haptocorrin Deficiency 58
Tci Deficiency 58

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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® 57 193090
ICD10 via Orphanet 33 E53.8
UMLS via Orphanet 71 C0342700
Orphanet 58 ORPHA2967
MedGen 41 C0342700
SNOMED-CT via HPO 68 258211005 263681008 91019004
UMLS 70 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 reduced tendon reflexes and paresthesia

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 reduced tendon reflexes 31 HP:0001315
2 paresthesia 31 HP:0003401
3 abnormality of metabolism/homeostasis 31 HP:0001939

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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 57
12356110 2002
2
Deficiency of the specific granule proteins, R-binder/transcobalamin I and lactoferrin, in plasma and saliva: a new disorder. 57
11298376 2001
3
Plasma R binder deficiency and neurologic disease. 57
3683461 1987
4
R-binder deficiency. A clinically benign cause of cobalamin pseudodeficiency. 57
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. 57
7053761 1982
6
Congenital deficiency of human R-type binding proteins of cobalamin. 57
930926 1977
7
Deficiency of vitamin B12-binding alpha globulin in two brothers. 57
4178969 1969

Variations for Transcobalamin I Deficiency

ClinVar genetic disease variations for Transcobalamin I Deficiency:

6 (show all 27)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TCN1 NM_001062.4(TCN1):c.26del (p.Leu9fs) Deletion Pathogenic 568555 rs1209702636 GRCh37: 11:59633918-59633918
GRCh38: 11:59866445-59866445
2 TCN1 NM_001062.4(TCN1):c.776A>G (p.Asn259Ser) SNV Uncertain significance 659004 rs139595894 GRCh37: 11:59623503-59623503
GRCh38: 11:59856030-59856030
3 TCN1 NM_001062.4(TCN1):c.706G>A (p.Gly236Ser) SNV Uncertain significance 529775 rs1242630410 GRCh37: 11:59626591-59626591
GRCh38: 11:59859118-59859118
4 TCN1 NM_001062.4(TCN1):c.344A>T (p.Asp115Val) SNV Uncertain significance 1036789 GRCh37: 11:59630111-59630111
GRCh38: 11:59862638-59862638
5 TCN1 NM_001062.4(TCN1):c.683T>C (p.Ile228Thr) SNV Uncertain significance 847749 GRCh37: 11:59626614-59626614
GRCh38: 11:59859141-59859141
6 TCN1 NM_001062.4(TCN1):c.994T>G (p.Ser332Ala) SNV Uncertain significance 848440 GRCh37: 11:59622252-59622252
GRCh38: 11:59854779-59854779
7 TCN1 NM_001062.4(TCN1):c.1177T>C (p.Cys393Arg) SNV Uncertain significance 848835 GRCh37: 11:59620739-59620739
GRCh38: 11:59853266-59853266
8 TCN1 NM_001062.4(TCN1):c.337A>G (p.Ile113Val) SNV Uncertain significance 933675 GRCh37: 11:59630118-59630118
GRCh38: 11:59862645-59862645
9 TCN1 NM_001062.4(TCN1):c.152G>C (p.Gly51Ala) SNV Uncertain significance 940722 GRCh37: 11:59631487-59631487
GRCh38: 11:59864014-59864014
10 TCN1 NM_001062.4(TCN1):c.1229C>T (p.Pro410Leu) SNV Uncertain significance 948505 GRCh37: 11:59620687-59620687
GRCh38: 11:59853214-59853214
11 TCN1 NM_001062.4(TCN1):c.1225G>A (p.Glu409Lys) SNV Uncertain significance 952094 GRCh37: 11:59620691-59620691
GRCh38: 11:59853218-59853218
12 TCN1 NM_001062.4(TCN1):c.1262G>A (p.Arg421His) SNV Uncertain significance 972460 GRCh37: 11:59620488-59620488
GRCh38: 11:59853015-59853015
13 TCN1 NM_001062.4(TCN1):c.1151C>T (p.Pro384Leu) SNV Uncertain significance 1011214 GRCh37: 11:59620765-59620765
GRCh38: 11:59853292-59853292
14 TCN1 NM_001062.4(TCN1):c.556+5G>A SNV Uncertain significance 1018822 GRCh37: 11:59628995-59628995
GRCh38: 11:59861522-59861522
15 TCN1 NC_000011.9:g.(?_59628980)_(59629175_?)dup Duplication Uncertain significance 1019642 GRCh37: 11:59628980-59629175
GRCh38:
16 TCN1 NM_001062.4(TCN1):c.69C>T (p.Cys23=) SNV Uncertain significance 1022342 GRCh37: 11:59633875-59633875
GRCh38: 11:59866402-59866402
17 TCN1 NM_001062.4(TCN1):c.727A>C (p.Ser243Arg) SNV Uncertain significance 1025075 GRCh37: 11:59626570-59626570
GRCh38: 11:59859097-59859097
18 TCN1 NM_001062.4(TCN1):c.140A>G (p.Asn47Ser) SNV Uncertain significance 1035343 GRCh37: 11:59631499-59631499
GRCh38: 11:59864026-59864026
19 TCN1 NM_001062.4(TCN1):c.497T>C (p.Val166Ala) SNV Uncertain significance 1043075 GRCh37: 11:59629059-59629059
GRCh38: 11:59861586-59861586
20 TCN1 NM_001062.4(TCN1):c.505C>T (p.His169Tyr) SNV Uncertain significance 1057314 GRCh37: 11:59629051-59629051
GRCh38: 11:59861578-59861578
21 TCN1 NM_001062.4(TCN1):c.358G>A (p.Asp120Asn) SNV Uncertain significance 1005971 GRCh37: 11:59630097-59630097
GRCh38: 11:59862624-59862624
22 TCN1 NM_001062.4(TCN1):c.1000A>G (p.Ile334Val) SNV Likely benign 779598 rs142805308 GRCh37: 11:59622246-59622246
GRCh38: 11:59854773-59854773
23 TCN1 NM_001062.4(TCN1):c.855C>T (p.Asn285=) SNV Likely benign 726800 rs72550759 GRCh37: 11:59623424-59623424
GRCh38: 11:59855951-59855951
24 TCN1 NM_001062.4(TCN1):c.401-9C>T SNV Benign 776615 rs66980105 GRCh37: 11:59629164-59629164
GRCh38: 11:59861691-59861691
25 TCN1 NM_001062.4(TCN1):c.925G>A (p.Val309Ile) SNV Benign 786685 rs72550758 GRCh37: 11:59623354-59623354
GRCh38: 11:59855881-59855881
26 TCN1 NM_001062.4(TCN1):c.104G>A (p.Arg35His) SNV Benign 460313 rs34528912 GRCh37: 11:59631535-59631535
GRCh38: 11:59864062-59864062
27 TCN1 NM_001062.4(TCN1):c.172del (p.Val58fs) Deletion Benign 780975 rs34530014 GRCh37: 11:59631467-59631467
GRCh38: 11:59863994-59863994

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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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