MCID: CNG522
MIFTS: 10

Congenital Disorder of Glycosylation with Defective Fucosylation

Categories: 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 6
Cdgf 57

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)


Classifications:



External Ids:

OMIM 57 618005

Summaries for Congenital Disorder of Glycosylation with Defective Fucosylation

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)

MalaCards based summary : Congenital Disorder of Glycosylation with Defective Fucosylation, is also known as cdgf. An important gene associated with Congenital Disorder of Glycosylation with Defective Fucosylation is FUT8 (Fucosyltransferase 8).

Related Diseases for Congenital Disorder of Glycosylation with Defective Fucosylation

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

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

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:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FUT8 NM_178155.2: c.715C> T single nucleotide variant Pathogenic
2 FUT8 NM_178155.2: c.1009C> G single nucleotide variant Pathogenic
3 FUT8 NM_178155.2(FUT8): c.1259+5G> T single nucleotide variant Pathogenic GRCh37 Chromosome 14, 66191046: 66191046
4 FUT8 NM_178155.2(FUT8): c.1259+5G> T single nucleotide variant Pathogenic GRCh38 Chromosome 14, 65724328: 65724328
5 FUT8 NM_178155.2: c.943C> T single nucleotide variant Pathogenic

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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