CDGF1
MCID: CNG539
MIFTS: 26

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 56 73 29 6
Cdgf1 56 73
Cdgf 56

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
congenital disorder of glycosylation with defective fucosylation 1:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



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

UniProtKB/Swiss-Prot : 73 Congenital disorder of glycosylation with defective fucosylation 1: 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. CDGF1 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, is also known as cdgf1. An important gene associated with Congenital Disorder of Glycosylation with Defective Fucosylation 1 is FUT8 (Fucosyltransferase 8). Affiliated tissues include lung, endothelial and bone, and related phenotypes are hypothyroidism and hypoglycemia

OMIM : 56 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...

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

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

31 (show all 30)
# Description HPO Frequency HPO Source Accession
1 hypothyroidism 31 very rare (1%) HP:0000821
2 hypoglycemia 31 very rare (1%) HP:0001943
3 neutropenia 31 very rare (1%) HP:0001875
4 abnormal cardiac septum morphology 31 very rare (1%) HP:0001671
5 nephrocalcinosis 31 very rare (1%) HP:0000121
6 hirsutism 31 very rare (1%) HP:0001007
7 intellectual disability 31 HP:0001249
8 seizures 31 HP:0001250
9 failure to thrive 31 HP:0001508
10 high palate 31 HP:0000218
11 osteopenia 31 HP:0000938
12 respiratory insufficiency 31 HP:0002093
13 global developmental delay 31 HP:0001263
14 wide nasal bridge 31 HP:0000431
15 abnormal facial shape 31 HP:0001999
16 short nose 31 HP:0003196
17 short stature 31 HP:0004322
18 feeding difficulties 31 HP:0011968
19 intrauterine growth retardation 31 HP:0001511
20 microcephaly 31 HP:0000252
21 flexion contracture 31 HP:0001371
22 polyhydramnios 31 HP:0001561
23 narrow forehead 31 HP:0000341
24 generalized hypotonia 31 HP:0001290
25 retrognathia 31 HP:0000278
26 kyphoscoliosis 31 HP:0002751
27 hip dislocation 31 HP:0002827
28 broad forehead 31 HP:0000337
29 buphthalmos 31 HP:0000557
30 limb undergrowth 31 HP:0009826

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
intellectual disability
seizures
delayed psychomotor development

Skeletal:
osteopenia
contractures

Head And Neck Nose:
wide nasal bridge
short nose

Head And Neck Head:
microcephaly

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

Head And Neck Eyes:
glaucoma
buphthalmos

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

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

Respiratory:
respiratory insufficiency

Growth Height:
short stature

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Skeletal Spine:
kyphoscoliosis

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...

Genetic tests related to Congenital Disorder of Glycosylation with Defective Fucosylation 1:

# Genetic test Affiliating Genes
1 Congenital Disorder of Glycosylation with Defective Fucosylation 1 29

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

MalaCards organs/tissues related to Congenital Disorder of Glycosylation with Defective Fucosylation 1:

40
Lung, Endothelial, Bone

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

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

(show all 14)
# Title Authors PMID Year
1
Biallelic Mutations in FUT8 Cause a Congenital Disorder of Glycosylation with Defective Fucosylation. 56 6
29304374 2018
2
Dysregulation of TGF-beta1 receptor activation leads to abnormal lung development and emphysema-like phenotype in core fucose-deficient mice. 56
16236725 2005
3
Cyclodextrin functionalized 3D-graphene for the removal of Cr(VI) with the easy and rapid separation strategy. 61
31362256 2019
4
Cyclic diguanylate regulation of Bacillus cereus group biofilm formation. 61
27116468 2016
5
Human mesenchymal stem cells produce bioactive neurotrophic factors: source, individual variability and differentiation issues. 61
25280030 2014
6
Hyperglycemia to nephropathy via transforming growth factor beta. 61
24919657 2014
7
[Effects of cartilage-derived growth factor on cultured rabbit chondrocytes]. 61
12417074 2002
8
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. 61
8440329 1993
9
Isolation and characterization of a novel type of growth factor derived from serum-free conditioned medium of chicken embryo fibroblasts. 61
1628645 1992
10
Differential effects of cartilage-derived growth factor stimulation of collagen secretion by bovine aortic and microvascular endothelial cells. 61
3581755 1987
11
Growth factor- and dexamethasone-induced proteins in Swiss 3T3 cells. Relationship to DNA synthesis. 61
3874205 1985
12
Accelerated wound repair, cell proliferation, and collagen accumulation are produced by a cartilage-derived growth factor. 61
3838548 1985
13
Purification of cartilage-derived growth factor by heparin affinity chromatography. 61
3838306 1985
14
[In vitro properties of various growth factors and in vivo effects]. 61
6093893 1984

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

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

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FUT8 NM_004480.4(FUT8):c.226C>T (p.Arg76Ter)SNV Pathogenic 545465 rs1460811017 14:66136078-66136078 14:65669360-65669360
2 FUT8 NM_004480.4(FUT8):c.520C>G (p.Arg174Gly)SNV Pathogenic 545466 rs1297536872 14:66188666-66188666 14:65721948-65721948
3 FUT8 NM_004480.4(FUT8):c.770+5G>TSNV Pathogenic 545467 rs1555388034 14:66191046-66191046 14:65724328-65724328
4 FUT8 NM_004480.4(FUT8):c.454C>T (p.Arg152Ter)SNV Pathogenic 545468 rs1334593208 14:66188600-66188600 14:65721882-65721882

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

73
# Symbol AA change Variation ID SNP ID
1 FUT8 p.Arg337Gly VAR_080980

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
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
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39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
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48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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