MCID: FCS013
MIFTS: 16

Fucosyltransferase 6 Deficiency

Categories: Genetic diseases

Aliases & Classifications for Fucosyltransferase 6 Deficiency

MalaCards integrated aliases for Fucosyltransferase 6 Deficiency:

Name: Fucosyltransferase 6 Deficiency 57 29 13 6 39 70

Classifications:



External Ids:

OMIM® 57 613852
UMLS 70 C3151219

Summaries for Fucosyltransferase 6 Deficiency

MalaCards based summary : Fucosyltransferase 6 Deficiency is related to vitamin b12 plasma level quantitative trait locus 1. An important gene associated with Fucosyltransferase 6 Deficiency is FUT6 (Fucosyltransferase 6), and among its related pathways/superpathways is Glycosphingolipid biosynthesis - lacto and neolacto series.

More information from OMIM: 613852

Related Diseases for Fucosyltransferase 6 Deficiency

Diseases related to Fucosyltransferase 6 Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 vitamin b12 plasma level quantitative trait locus 1 9.5 LOC105447645 FUT2

Symptoms & Phenotypes for Fucosyltransferase 6 Deficiency

Clinical features from OMIM®:

613852 (Updated 05-Apr-2021)

Drugs & Therapeutics for Fucosyltransferase 6 Deficiency

Search Clinical Trials , NIH Clinical Center for Fucosyltransferase 6 Deficiency

Genetic Tests for Fucosyltransferase 6 Deficiency

Genetic tests related to Fucosyltransferase 6 Deficiency:

# Genetic test Affiliating Genes
1 Fucosyltransferase 6 Deficiency 29 FUT6

Anatomical Context for Fucosyltransferase 6 Deficiency

Publications for Fucosyltransferase 6 Deficiency

Articles related to Fucosyltransferase 6 Deficiency:

# Title Authors PMID Year
1
Molecular basis for plasma alpha(1,3)-fucosyltransferase gene deficiency (FUT6). 57 6
8175676 1994

Variations for Fucosyltransferase 6 Deficiency

ClinVar genetic disease variations for Fucosyltransferase 6 Deficiency:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FUT6 NM_001040701.2(FUT6):c.501dup (p.Tyr168fs) Duplication Pathogenic 997540 GRCh37: 19:5832077-5832078
GRCh38: 19:5832066-5832067
2 FUT6 NM_000150.4(FUT6):c.1023G>A (p.Trp341Ter) SNV Pathogenic 1030624 GRCh37: 19:5831556-5831556
GRCh38: 19:5831545-5831545
3 FUT6 NM_000150.4(FUT6):c.207del (p.Trp69fs) Deletion Pathogenic 1032214 GRCh37: 19:5832372-5832372
GRCh38: 19:5832361-5832361
4 FUT6 NM_000150.4(FUT6):c.328C>T (p.Arg110Ter) SNV Pathogenic 1032215 GRCh37: 19:5832251-5832251
GRCh38: 19:5832240-5832240
5 FUT6 NM_000150.2(FUT6):c.945C>A (p.Tyr315Ter) SNV Conflicting interpretations of pathogenicity 225367 rs145035679 GRCh37: 19:5831634-5831634
GRCh38: 19:5831623-5831623
6 FUT6 NM_000150.2(FUT6):c.739G>A (p.Glu247Lys) SNV Uncertain significance 16239 rs17855739 GRCh37: 19:5831840-5831840
GRCh38: 19:5831829-5831829
7 FUT2 , LOC105447645 NM_000511.6(FUT2):c.73A>G (p.Ile25Val) SNV Benign 979159 GRCh37: 19:49206286-49206286
GRCh38: 19:48703029-48703029
8 FUT6 NM_000150.3(FUT6):c.907C>G (p.Arg303Gly) SNV Benign 979160 GRCh37: 19:5831672-5831672
GRCh38: 19:5831661-5831661
9 FUT6 NM_000150.3(FUT6):c.370C>T (p.Pro124Ser) SNV Benign 979161 GRCh37: 19:5832209-5832209
GRCh38: 19:5832198-5832198

Expression for Fucosyltransferase 6 Deficiency

Search GEO for disease gene expression data for Fucosyltransferase 6 Deficiency.

Pathways for Fucosyltransferase 6 Deficiency

Pathways related to Fucosyltransferase 6 Deficiency according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.05 FUT6 FUT2

GO Terms for Fucosyltransferase 6 Deficiency

Cellular components related to Fucosyltransferase 6 Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Golgi cisterna membrane GO:0032580 8.62 FUT6 FUT2

Biological processes related to Fucosyltransferase 6 Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein glycosylation GO:0006486 9.16 FUT6 FUT2
2 fucosylation GO:0036065 8.96 FUT6 FUT2
3 L-fucose catabolic process GO:0042355 8.62 FUT6 FUT2

Molecular functions related to Fucosyltransferase 6 Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transferase activity, transferring glycosyl groups GO:0016757 8.96 FUT6 FUT2
2 fucosyltransferase activity GO:0008417 8.62 FUT6 FUT2

Sources for Fucosyltransferase 6 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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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