CDGF
MCID: CNG522
MIFTS: 20

Congenital Disorder of Glycosylation with Defective Fucosylation (CDGF)

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:

Name: Congenital Disorder of Glycosylation with Defective Fucosylation 57 75 6
Cdgf 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype
onset in utero
symptoms apparent at birth
three unrelated children have been reported (last curated june 2018)


HPO:

32
congenital disorder of glycosylation with defective fucosylation:
Onset and clinical course congenital onset phenotypic variability


Classifications:



Summaries for Congenital Disorder of Glycosylation with Defective Fucosylation

UniProtKB/Swiss-Prot : 75 Congenital disorder of glycosylation with defective fucosylation: 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. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDGF is an autosomal recessive disorder, apparent from birth, characterized by poor growth, failure to thrive, hypotonia, skeletal anomalies, and delayed psychomotor development with intellectual disability.

MalaCards based summary : Congenital Disorder of Glycosylation with Defective Fucosylation, also known as cdgf, is related to congenital disorder of glycosylation, type in. An important gene associated with Congenital Disorder of Glycosylation with Defective Fucosylation is FUT8 (Fucosyltransferase 8). Affiliated tissues include bone, and related phenotypes are osteopenia and intellectual disability

OMIM : 57 Congenital disorder of glycosylation with defective fucosylation is an autosomal recessive multisystemic disorder apparent from birth. Affected infants have poor growth, failure to thrive, hypotonia, skeletal anomalies, and delayed psychomotor development with intellectual disability. Additional highly variable congenital defects may be observed (summary by Ng et al., 2018). For an overview of congenital disorders of glycosylation (CDG), see CDG1A (212065) and CDG2A (212066). (618005)

Related Diseases for Congenital Disorder of Glycosylation with Defective Fucosylation

Diseases related to Congenital Disorder of Glycosylation with Defective Fucosylation via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 congenital disorder of glycosylation, type in 10.2

Symptoms & Phenotypes for Congenital Disorder of Glycosylation with Defective Fucosylation

Symptoms via clinical synopsis from OMIM:

57
Skeletal:
osteopenia
contractures

Growth Other:
failure to thrive
intrauterine growth retardation (iugr)

Head And Neck Nose:
wide nasal bridge
short nose

Growth Height:
short stature

Head And Neck Eyes:
glaucoma
buphthalmos

Skeletal Spine:
kyphoscoliosis

Head And Neck Mouth:
high-arched palate

Abdomen Gastrointestinal:
poor feeding

Skin Nails Hair Hair:
hirsutism (1 patient)

Endocrine Features:
hypothyroidism (1 patient)

Metabolic Features:
hypoglycemia (1 patient)

Laboratory Abnormalities:
serum analysis shows complete loss of total core fucosylated n-glycans
glycosylation of serum transferrin is normal

Neurologic Central Nervous System:
intellectual disability
seizures
delayed psychomotor development

Respiratory:
respiratory insufficiency

Head And Neck Head:
microcephaly

Head And Neck Face:
retrognathia
broad forehead
bitemporal narrowing
dysmorphic facial features, variable

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Muscle Soft Tissue:
hypotonia

Skeletal Pelvis:
dislocated hips

Skeletal Limbs:
short limbs

Cardiovascular Heart:
septal defects (1 patient)

Genitourinary Kidneys:
nephrocalcinosis (1 patient)

Immunology:
neutropenia (1 patient)


Clinical features from OMIM:

618005

Human phenotypes related to Congenital Disorder of Glycosylation with Defective Fucosylation:

32 (show all 14)
# Description HPO Frequency HPO Source Accession
1 osteopenia 32 HP:0000938
2 intellectual disability 32 HP:0001249
3 seizures 32 HP:0001250
4 failure to thrive 32 HP:0001508
5 global developmental delay 32 HP:0001263
6 wide nasal bridge 32 HP:0000431
7 abnormal facial shape 32 HP:0001999
8 short nose 32 HP:0003196
9 flexion contracture 32 HP:0001371
10 retrognathia 32 HP:0000278
11 intrauterine growth retardation 32 HP:0001511
12 broad forehead 32 HP:0000337
13 buphthalmos 32 HP:0000557
14 narrow forehead 32 HP:0000341

Drugs & Therapeutics for Congenital Disorder of Glycosylation with Defective Fucosylation

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

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:

41
Bone

Publications for Congenital Disorder of Glycosylation with Defective Fucosylation

Articles related to Congenital Disorder of Glycosylation with Defective Fucosylation:

# Title Authors Year
1
Biallelic Mutations in FUT8 Cause a Congenital Disorder of Glycosylation with Defective Fucosylation. ( 29304374 )
2018
2
CDGF (chicken embryo fibroblast-derived growth factor) is mitogenically related to TGF-beta and modulates PDGF, bFGF, and IGF-I action on sparse NIH/3T3 cells. ( 8440329 )
1993

Variations for Congenital Disorder of Glycosylation with Defective Fucosylation

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FUT8 NM_178155.2(FUT8): c.715C> T (p.Arg239Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 14, 66136078: 66136078
2 FUT8 NM_178155.2(FUT8): c.715C> T (p.Arg239Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 14, 65669360: 65669360
3 FUT8 NM_178155.2(FUT8): c.1009C> G (p.Arg337Gly) single nucleotide variant Pathogenic GRCh37 Chromosome 14, 66188666: 66188666
4 FUT8 NM_178155.2(FUT8): c.1009C> G (p.Arg337Gly) single nucleotide variant Pathogenic GRCh38 Chromosome 14, 65721948: 65721948
5 FUT8 NM_178155.2(FUT8): c.1259+5G> T single nucleotide variant Pathogenic GRCh37 Chromosome 14, 66191046: 66191046
6 FUT8 NM_178155.2(FUT8): c.1259+5G> T single nucleotide variant Pathogenic GRCh38 Chromosome 14, 65724328: 65724328
7 FUT8 NM_178155.2(FUT8): c.943C> T (p.Arg315Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 14, 66188600: 66188600
8 FUT8 NM_178155.2(FUT8): c.943C> T (p.Arg315Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 14, 65721882: 65721882

Expression for Congenital Disorder of Glycosylation with Defective Fucosylation

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

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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