CDG1Y
MCID: CNG416
MIFTS: 29

Congenital Disorder of Glycosylation, Type Iy (CDG1Y)

Categories: Blood diseases, Bone diseases, Cardiovascular diseases, Ear diseases, Endocrine diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Liver diseases, Mental diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Congenital Disorder of Glycosylation, Type Iy

MalaCards integrated aliases for Congenital Disorder of Glycosylation, Type Iy:

Name: Congenital Disorder of Glycosylation, Type Iy 58 74
Cdg1y 58 60 76
Congenital Disorder of Glycosylation Type Iy 60 76
Cdg Iy 58 76
Cdg-Iy 60 76
Cdgiy 58 76
Carbohydrate Deficient Glycoprotein Syndrome Type Iy 60
Glycosylation, Congenital Disorder of, Type Iy 41
Congenital Disorder of Glycosylation Type 1y 60
Congenital Disorder of Glycosylation 1y 76
Cdg Syndrome Type Iy 60
Cdg Iy; Cdgiy 58
Ssr4-Cdg 60

Characteristics:

Orphanet epidemiological data:

60
ssr4-cdg
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Miscellaneous:
onset at birth
most mutations occur de novo
female carriers may have mild intellectual disability
transferrin glycosylation may be very mildly or borderline affected

Inheritance:
x-linked recessive


HPO:

33
congenital disorder of glycosylation, type iy:
Onset and clinical course congenital onset
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Congenital Disorder of Glycosylation, Type Iy

UniProtKB/Swiss-Prot : 76 Congenital disorder of glycosylation 1Y: A form of congenital disorder of glycosylation, a multisystem disorder 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.

MalaCards based summary : Congenital Disorder of Glycosylation, Type Iy, also known as cdg1y, is related to ssr4-cdg and congenital disorder of glycosylation, type ii. An important gene associated with Congenital Disorder of Glycosylation, Type Iy is SSR4 (Signal Sequence Receptor Subunit 4). Affiliated tissues include eye, skin and kidney, and related phenotypes are abnormality of coagulation and hypoplasia of the corpus callosum

Description from OMIM: 300934

Related Diseases for Congenital Disorder of Glycosylation, Type Iy

Diseases in the Congenital Disorder of Glycosylation, Type Ii family:

Congenital Disorder of Glycosylation, Type Ia Congenital Disorder of Glycosylation, Type Iia
Congenital Disorder of Glycosylation, Type I/iix Congenital Disorder of Glycosylation, Type Iic
Congenital Disorder of Glycosylation, Type Iim Congenital Disorder of Glycosylation, Type Iy
Congenital Disorder of Glycosylation, Type Id Congenital Disorder of Glycosylation, Type Ib
Congenital Disorder of Glycosylation, Type Ic Congenital Disorder of Glycosylation, Type Iif
Congenital Disorder of Glycosylation, Type Iib Congenital Disorder of Glycosylation, Type Iid
Congenital Disorder of Glycosylation, Type Ig Congenital Disorder of Glycosylation, Type Ij
Congenital Disorder of Glycosylation, Type Ih Congenital Disorder of Glycosylation, Type Ik
Congenital Disorder of Glycosylation, Type Il Congenital Disorder of Glycosylation, Type Ie
Congenital Disorder of Glycosylation, Type if Congenital Disorder of Glycosylation, Type Im
Congenital Disorder of Glycosylation, Type Iih Congenital Disorder of Glycosylation, Type Iig
Congenital Disorder of Glycosylation, Type in Congenital Disorder of Glycosylation, Type Iq
Congenital Disorder of Glycosylation, Type Iij Congenital Disorder of Glycosylation, Type Iii
Congenital Disorder of Glycosylation, Type Ip Congenital Disorder of Glycosylation, Type Ir
Congenital Disorder of Glycosylation, Type Iil Congenital Disorder of Glycosylation, Type Iik
Congenital Disorder of Glycosylation, Type It Congenital Disorder of Glycosylation, Type Iu
Congenital Disorder of Glycosylation, Type Iw Congenital Disorder of Glycosylation, Type Ix
Congenital Disorder of Glycosylation, Type Iin Congenital Disorder of Glycosylation, Type Iio
Congenital Disorder of Glycosylation, Type Iip Congenital Disorder of Glycosylation, Type Iiq

Diseases related to Congenital Disorder of Glycosylation, Type Iy via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 ssr4-cdg 11.7
2 congenital disorder of glycosylation, type ii 11.4
3 congenital disorder of glycosylation, type ie 10.1

Symptoms & Phenotypes for Congenital Disorder of Glycosylation, Type Iy

Human phenotypes related to Congenital Disorder of Glycosylation, Type Iy:

60 33 (show all 32)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of coagulation 60 33 occasional (7.5%) Occasional (29-5%) HP:0001928
2 hypoplasia of the corpus callosum 60 33 occasional (7.5%) Occasional (29-5%) HP:0002079
3 joint dislocation 60 33 Occasional (29-5%) HP:0001373
4 intellectual disability 60 33 Obligate (100%) HP:0001249
5 seizures 60 33 Frequent (79-30%) HP:0001250
6 failure to thrive 60 33 Very frequent (99-80%) HP:0001508
7 scoliosis 60 33 Occasional (29-5%) HP:0002650
8 macrotia 60 33 Very frequent (99-80%) HP:0000400
9 widely spaced teeth 60 33 Very frequent (99-80%) HP:0000687
10 global developmental delay 60 33 Obligate (100%) HP:0001263
11 microcephaly 60 33 Obligate (100%) HP:0000252
12 feeding difficulties 60 33 Very frequent (99-80%) HP:0011968
13 strabismus 60 33 Very frequent (99-80%) HP:0000486
14 wide mouth 60 33 Very frequent (99-80%) HP:0000154
15 deeply set eye 60 33 Very frequent (99-80%) HP:0000490
16 generalized hypotonia 60 33 Obligate (100%) HP:0001290
17 clinodactyly 33 HP:0030084
18 abnormal facial shape 60 Obligate (100%)
19 gastroesophageal reflux 60 Very frequent (99-80%)
20 vomiting 60 Very frequent (99-80%)
21 abnormality of the cardiovascular system 60 Occasional (29-5%)
22 micrognathia 33 HP:0000347
23 patent ductus arteriosus 60 Very rare (<4-1%)
24 horseshoe kidney 60 Occasional (29-5%)
25 abnormality of the skeletal system 60 Occasional (29-5%)
26 hypospadias 33 HP:0000047
27 absent septum pellucidum 60 Occasional (29-5%)
28 abnormality of the gastrointestinal tract 60 Very frequent (99-80%)
29 abnormality of the coagulation cascade 60 Very rare (<4-1%)
30 abnormality of the periventricular white matter 60 Occasional (29-5%)
31 abnormality of upper lip vermillion 60 Very frequent (99-80%)
32 type i transferrin isoform profile 33 HP:0003642

Symptoms via clinical synopsis from OMIM:

58
Skeletal Feet:
clinodactyly

Growth Other:
failure to thrive

Head And Neck Teeth:
widely spaced teeth

Head And Neck Face:
micrognathia

Muscle Soft Tissue:
hypotonia

Head And Neck Mouth:
large mouth
thin vermilion of the upper lip

Respiratory:
respiratory distress in infancy

Laboratory Abnormalities:
abnormal isoelectric focusing of serum transferrin (type 1 pattern)

Genitourinary External Genitalia Male:
hypospadias, mild

Neurologic Central Nervous System:
intellectual disability
delayed psychomotor development
seizures (in some patients)
thin corpus callosum (in some patients)

Skeletal Spine:
scoliosis

Head And Neck Head:
microcephaly

Head And Neck Eyes:
strabismus
deep-set eyes

Head And Neck Ears:
large ears

Abdomen Gastrointestinal:
poor feeding
gastric reflux

Skeletal:
joint dislocations

Head And Neck Neck:
excess skin around the neck

Hematology:
coagulation abnormalities (in some patients)

Clinical features from OMIM:

300934

Drugs & Therapeutics for Congenital Disorder of Glycosylation, Type Iy

Search Clinical Trials , NIH Clinical Center for Congenital Disorder of Glycosylation, Type Iy

Genetic Tests for Congenital Disorder of Glycosylation, Type Iy

Anatomical Context for Congenital Disorder of Glycosylation, Type Iy

MalaCards organs/tissues related to Congenital Disorder of Glycosylation, Type Iy:

42
Eye, Skin, Kidney, Liver, Bone

Publications for Congenital Disorder of Glycosylation, Type Iy

Variations for Congenital Disorder of Glycosylation, Type Iy

ClinVar genetic disease variations for Congenital Disorder of Glycosylation, Type Iy:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SSR4 NM_006280.2(SSR4): c.316delT (p.Phe106Serfs) deletion Pathogenic rs606231298 GRCh38 Chromosome X, 153797779: 153797779
2 SSR4 NM_006280.2(SSR4): c.316delT (p.Phe106Serfs) deletion Pathogenic rs606231298 GRCh37 Chromosome X, 153063234: 153063234
3 SSR4 NM_006280.2(SSR4): c.187-301_352-15del deletion Pathogenic rs1557072752 GRCh37 Chromosome X, 153062612: 153063511
4 SSR4 NM_006280.2(SSR4): c.187-301_352-15del deletion Pathogenic rs1557072752 GRCh38 Chromosome X, 153797157: 153798056
5 SSR4 NM_006280.2(SSR4): c.358_359delAG (p.Arg120Glufs) deletion Pathogenic/Likely pathogenic rs794729223 GRCh38 Chromosome X, 153798077: 153798078
6 SSR4 NM_006280.2(SSR4): c.358_359delAG (p.Arg120Glufs) deletion Pathogenic/Likely pathogenic rs794729223 GRCh37 Chromosome X, 153063532: 153063533
7 SSR4 NM_001204527.1(SSR4): c.441+1G> A single nucleotide variant Pathogenic rs1057518735 GRCh38 Chromosome X, 153798137: 153798137
8 SSR4 NM_001204527.1(SSR4): c.441+1G> A single nucleotide variant Pathogenic rs1057518735 GRCh37 Chromosome X, 153063592: 153063592
9 SSR4 NM_001204527.1(SSR4): c.442-1G> A single nucleotide variant Pathogenic rs1057518736 GRCh37 Chromosome X, 153063783: 153063783
10 SSR4 NM_001204527.1(SSR4): c.442-1G> A single nucleotide variant Pathogenic rs1057518736 GRCh38 Chromosome X, 153798328: 153798328

Expression for Congenital Disorder of Glycosylation, Type Iy

Search GEO for disease gene expression data for Congenital Disorder of Glycosylation, Type Iy.

Pathways for Congenital Disorder of Glycosylation, Type Iy

GO Terms for Congenital Disorder of Glycosylation, Type Iy

Sources for Congenital Disorder of Glycosylation, Type Iy

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
39 LifeMap
41 LOVD
43 MedGen
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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