CDGF2
MCID: CNG541
MIFTS: 11

Congenital Disorder of Glycosylation with Defective Fucosylation 2 (CDGF2)

Categories: Bone diseases, Genetic diseases

Aliases & Classifications for Congenital Disorder of Glycosylation with Defective Fucosylation...

MalaCards integrated aliases for Congenital Disorder of Glycosylation with Defective Fucosylation 2:

Name: Congenital Disorder of Glycosylation with Defective Fucosylation 2 58 6
Cdgf2 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
two unrelated patients have been reported (last curated february 2019)


Classifications:



External Ids:

OMIM 58 618324

Summaries for Congenital Disorder of Glycosylation with Defective Fucosylation...

MalaCards based summary : Congenital Disorder of Glycosylation with Defective Fucosylation 2, is also known as cdgf2. An important gene associated with Congenital Disorder of Glycosylation with Defective Fucosylation 2 is FCSK (Fucose Kinase). Affiliated tissues include brain.

Description from OMIM: 618324

Related Diseases for Congenital Disorder of Glycosylation with Defective Fucosylation...

Diseases in the Congenital Disorder of Glycosylation with Defective Fucosylation 1 family:

Congenital Disorder of Glycosylation with Defective Fucosylation 2

Symptoms & Phenotypes for Congenital Disorder of Glycosylation with Defective Fucosylation...

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
nystagmus
visual impairment
optic atrophy
strabismus
cortical blindness
more
Neurologic Central Nervous System:
global developmental delay
inability to walk
abnormal myelination
epileptic encephalopathy
brainstem hypoplasia
more
Muscle Soft Tissue:
hypotonia

Respiratory:
respiratory insufficiency

Abdomen Gastrointestinal:
gastroesophageal reflux
poor feeding
tube feeding
motility problems

Skeletal:
contractures

Clinical features from OMIM:

618324

Drugs & Therapeutics for Congenital Disorder of Glycosylation with Defective Fucosylation...

Search Clinical Trials , NIH Clinical Center for Congenital Disorder of Glycosylation with Defective Fucosylation 2

Genetic Tests for Congenital Disorder of Glycosylation with Defective Fucosylation...

Anatomical Context for Congenital Disorder of Glycosylation with Defective Fucosylation...

MalaCards organs/tissues related to Congenital Disorder of Glycosylation with Defective Fucosylation 2:

42
Brain

Publications for Congenital Disorder of Glycosylation with Defective Fucosylation...

Variations for Congenital Disorder of Glycosylation with Defective Fucosylation...

ClinVar genetic disease variations for Congenital Disorder of Glycosylation with Defective Fucosylation 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FCSK NM_145059.3(FCSK): c.667T> C (p.Ser223Pro) single nucleotide variant Pathogenic GRCh38 Chromosome 16, 70468852: 70468852
2 FCSK NM_145059.3(FCSK): c.667T> C (p.Ser223Pro) single nucleotide variant Pathogenic GRCh37 Chromosome 16, 70502755: 70502755
3 FCSK NM_145059.3(FCSK): c.2047C> T (p.Arg683Cys) single nucleotide variant Pathogenic GRCh38 Chromosome 16, 70474586: 70474586
4 FCSK NM_145059.3(FCSK): c.2047C> T (p.Arg683Cys) single nucleotide variant Pathogenic GRCh37 Chromosome 16, 70508489: 70508489
5 FCSK NM_145059.3(FCSK): c.2980A> C (p.Lys994Gln) single nucleotide variant Pathogenic GRCh37 Chromosome 16, 70513133: 70513133
6 FCSK NM_145059.3(FCSK): c.2980A> C (p.Lys994Gln) single nucleotide variant Pathogenic GRCh38 Chromosome 16, 70479230: 70479230

Expression for Congenital Disorder of Glycosylation with Defective Fucosylation...

Search GEO for disease gene expression data for Congenital Disorder of Glycosylation with Defective Fucosylation 2.

Pathways for Congenital Disorder of Glycosylation with Defective Fucosylation...

GO Terms for Congenital Disorder of Glycosylation with Defective Fucosylation...

Sources for Congenital Disorder of Glycosylation with Defective Fucosylation...

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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