CDGF1
MCID: CNG539
MIFTS: 21

Congenital Disorder of Glycosylation with Defective Fucosylation 1 (CDGF1)

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 1:

Name: Congenital Disorder of Glycosylation with Defective Fucosylation 1 58 6
Cdgf 58 76
Congenital Disorder of Glycosylation with Defective Fucosylation 76
Cdgf1 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
congenital disorder of glycosylation with defective fucosylation 1:
Onset and clinical course congenital onset


Classifications:



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

UniProtKB/Swiss-Prot : 76 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 1, also known as cdgf, is related to congenital disorder of glycosylation with defective fucosylation 2 and congenital disorder of glycosylation, type in. An important gene associated with Congenital Disorder of Glycosylation with Defective Fucosylation 1 is FUT8 (Fucosyltransferase 8). Affiliated tissues include bone, and related phenotypes are osteopenia and intellectual disability

OMIM : 58 Congenital disorder of glycosylation with defective fucosylation is an autosomal recessive multisystem 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). (618005)

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

Diseases related to Congenital Disorder of Glycosylation with Defective Fucosylation 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 congenital disorder of glycosylation with defective fucosylation 2 12.8
2 congenital disorder of glycosylation, type in 10.1

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

Human phenotypes related to Congenital Disorder of Glycosylation with Defective Fucosylation 1:

33 (show all 14)
# Description HPO Frequency HPO Source Accession
1 osteopenia 33 HP:0000938
2 intellectual disability 33 HP:0001249
3 seizures 33 HP:0001250
4 failure to thrive 33 HP:0001508
5 global developmental delay 33 HP:0001263
6 wide nasal bridge 33 HP:0000431
7 abnormal facial shape 33 HP:0001999
8 short nose 33 HP:0003196
9 flexion contracture 33 HP:0001371
10 retrognathia 33 HP:0000278
11 intrauterine growth retardation 33 HP:0001511
12 broad forehead 33 HP:0000337
13 buphthalmos 33 HP:0000557
14 narrow forehead 33 HP:0000341

Symptoms via clinical synopsis from OMIM:

58
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

Skeletal Spine:
kyphoscoliosis

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

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

Head And Neck Eyes:
glaucoma
buphthalmos

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

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

Search Clinical Trials , NIH Clinical Center for Congenital Disorder of Glycosylation with Defective Fucosylation 1

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 1:

42
Bone

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

Articles related to Congenital Disorder of Glycosylation with Defective Fucosylation 1:

# Title Authors Year
1
Biallelic Mutations in FUT8 Cause a Congenital Disorder of Glycosylation with Defective Fucosylation. ( 29304374 )
2018

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

UniProtKB/Swiss-Prot genetic disease variations for Congenital Disorder of Glycosylation with Defective Fucosylation 1:

76
# Symbol AA change Variation ID SNP ID
1 FUT8 p.Arg337Gly VAR_080980

ClinVar genetic disease variations for Congenital Disorder of Glycosylation with Defective Fucosylation 1:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FUT8 NM_178155.2(FUT8): c.715C> T (p.Arg239Ter) single nucleotide variant Pathogenic rs1460811017 GRCh37 Chromosome 14, 66136078: 66136078
2 FUT8 NM_178155.2(FUT8): c.715C> T (p.Arg239Ter) single nucleotide variant Pathogenic rs1460811017 GRCh38 Chromosome 14, 65669360: 65669360
3 FUT8 NM_178155.2(FUT8): c.1009C> G (p.Arg337Gly) single nucleotide variant Pathogenic rs1297536872 GRCh37 Chromosome 14, 66188666: 66188666
4 FUT8 NM_178155.2(FUT8): c.1009C> G (p.Arg337Gly) single nucleotide variant Pathogenic rs1297536872 GRCh38 Chromosome 14, 65721948: 65721948
5 FUT8 NM_178155.2(FUT8): c.1259+5G> T single nucleotide variant Pathogenic rs1555388034 GRCh37 Chromosome 14, 66191046: 66191046
6 FUT8 NM_178155.2(FUT8): c.1259+5G> T single nucleotide variant Pathogenic rs1555388034 GRCh38 Chromosome 14, 65724328: 65724328
7 FUT8 NM_178155.2(FUT8): c.943C> T (p.Arg315Ter) single nucleotide variant Pathogenic rs1334593208 GRCh37 Chromosome 14, 66188600: 66188600
8 FUT8 NM_178155.2(FUT8): c.943C> T (p.Arg315Ter) single nucleotide variant Pathogenic rs1334593208 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 1.

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
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41 LOVD
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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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