MCID: CNG416
MIFTS: 28

Congenital Disorder of Glycosylation, Type Iy

Categories: Genetic diseases, Neuronal diseases, Metabolic diseases, Fetal diseases, Rare diseases, Liver diseases, Skin diseases, Cardiovascular diseases, Mental diseases, Blood diseases, Gastrointestinal diseases, Nephrological diseases, Ear diseases, Bone diseases, Muscle diseases, Endocrine 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 57 73
Cdg1y 57 59 75
Congenital Disorder of Glycosylation Type Iy 59 75
Cdg Iy 57 75
Cdg-Iy 59 75
Cdgiy 57 75
Carbohydrate Deficient Glycoprotein Syndrome Type Iy 59
Glycosylation, Congenital Disorder of, Type Iy 40
Congenital Disorder of Glycosylation Type 1y 59
Congenital Disorder of Glycosylation 1y 75
Cdg Syndrome Type Iy 59
Cdg Iy; Cdgiy 57
Ssr4-Cdg 59

Characteristics:

Orphanet epidemiological data:

59
ssr4-cdg
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
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:

32
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 : 75 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 ie. 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 microcephaly and intellectual disability

Description from OMIM: 300934

Related Diseases for Congenital Disorder of Glycosylation, Type Iy

Diseases in the Congenital Disorder of Glycosylation, Type in 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 Ii
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 Iq
Congenital Disorder of Glycosylation, Type Io 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 11.5
2 congenital disorder of glycosylation, type ie 11.4
3 congenital disorder of glycosylation, type ii 11.2

Symptoms & Phenotypes for Congenital Disorder of Glycosylation, Type Iy

Symptoms via clinical synopsis from OMIM:

57
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

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

59 32 (show all 32)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcephaly 59 32 Obligate (100%) HP:0000252
2 intellectual disability 59 32 Obligate (100%) HP:0001249
3 global developmental delay 59 32 Obligate (100%) HP:0001263
4 generalized hypotonia 59 32 Obligate (100%) HP:0001290
5 wide mouth 59 32 Very frequent (99-80%) HP:0000154
6 macrotia 59 32 Very frequent (99-80%) HP:0000400
7 strabismus 59 32 Very frequent (99-80%) HP:0000486
8 deeply set eye 59 32 Very frequent (99-80%) HP:0000490
9 widely spaced teeth 59 32 Very frequent (99-80%) HP:0000687
10 failure to thrive 59 32 Very frequent (99-80%) HP:0001508
11 feeding difficulties 59 32 Very frequent (99-80%) HP:0011968
12 seizures 59 32 Frequent (79-30%) HP:0001250
13 joint dislocation 59 32 Occasional (29-5%) HP:0001373
14 abnormality of coagulation 59 32 occasional (7.5%) Occasional (29-5%) HP:0001928
15 hypoplasia of the corpus callosum 59 32 occasional (7.5%) Occasional (29-5%) HP:0002079
16 scoliosis 59 32 Occasional (29-5%) HP:0002650
17 abnormality of the coagulation cascade 59 Very rare (<4-1%)
18 abnormal facial shape 59 Obligate (100%)
19 vomiting 59 Very frequent (99-80%)
20 gastroesophageal reflux 59 Very frequent (99-80%)
21 abnormality of the gastrointestinal tract 59 Very frequent (99-80%)
22 abnormality of upper lip vermillion 59 Very frequent (99-80%)
23 horseshoe kidney 59 Occasional (29-5%)
24 abnormality of the skeletal system 59 Occasional (29-5%)
25 absent septum pellucidum 59 Occasional (29-5%)
26 abnormality of the cardiovascular system 59 Occasional (29-5%)
27 abnormality of the periventricular white matter 59 Occasional (29-5%)
28 patent ductus arteriosus 59 Very rare (<4-1%)
29 hypospadias 32 HP:0000047
30 micrognathia 32 HP:0000347
31 type i transferrin isoform profile 32 HP:0003642
32 clinodactyly 32 HP:0030084

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:

41
Eye, Skin, Kidney

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 GRCh37 Chromosome X, 153062612: 153063511
4 SSR4 NM_006280.2(SSR4): c.187-301_352-15del deletion Pathogenic GRCh38 Chromosome X, 153797157: 153798056
5 SSR4 NM_001204527.1(SSR4): c.382_383delAG (p.Arg128Glufs) deletion Pathogenic/Likely pathogenic rs794729223 GRCh38 Chromosome X, 153798077: 153798078
6 SSR4 NM_001204527.1(SSR4): c.382_383delAG (p.Arg128Glufs) 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 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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