CDGF2
MCID: CNG541
MIFTS: 15

Congenital Disorder of Glycosylation with Defective Fucosylation 2 (CDGF2)

Categories: Bone diseases, Genetic diseases, Neuronal 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 76 6
Cdgf2 58 76

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
MeSH 45 D018981
MedGen 43 CN258212

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

UniProtKB/Swiss-Prot : 76 Congenital disorder of glycosylation with defective fucosylation 2: A form of congenital disorder of glycosylation, a genetically heterogeneous group of multisystem disorders caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. CDGF2 is an autosomal recessive disorder, apparent from birth, characterized by hypotonia, poor feeding, severely impaired intellectual and psychomotor development, seizures with epileptic encephalopathy, visual impairment and other ocular features, respiratory difficulty with frequent infections, as well as contractures. Brain imaging shows cerebellar and brainstem atrophy, hypoplasia or agenesis of the corpus callosum, and white matter abnormalities including periventricular leukomalacia.

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 and bone.

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
epileptic encephalopathy
abnormal myelination
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, Bone

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

Articles related to Congenital Disorder of Glycosylation with Defective Fucosylation 2:

# Title Authors Year
1
Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation. ( 30503518 )
2018

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
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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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