CDGIY
MCID: SSR001
MIFTS: 22

Ssr4-Cdg (CDGIY)

Categories: Rare diseases

Aliases & Classifications for Ssr4-Cdg

MalaCards integrated aliases for Ssr4-Cdg:

Name: Ssr4-Cdg 53
Congenital Disorder of Glycosylation Type 1y 53 29 6
Congenital Disorder of Glycosylation, Type Iy 53 73
Carbohydrate Deficient Glycoprotein Syndrome Type Iy 53
Glycosylation, Congenital Disorder of, Type Iy 40
Congenital Disorder of Glycosylation Type Iy 53
Cdg Syndrome Type Iy 53
Cdg Iy 53
Cdg-Iy 53
Cdg1y 53
Cdgiy 53

Classifications:



Summaries for Ssr4-Cdg

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 370927Disease definitionSSR4-CDG is a form of congenital disorders of N-linked glycosylation characterized by neurologic abnormalities (global developmental delay in language, social skills and fine and gross motor development, intellectual disability, hypotonia, microcephaly, seizures/epilepsy), facial dysmorphism (deep set eyes, large ears, hypoplastic vermillion of upper lip, large mouth with widely spaced teeth), feeding problems often due to chewing difficulties and aversion to food with certain textures, failure to thrive, gastrointestinal abnormalities (reflux or vomiting) and strabismus. The disease is caused by mutations in the gene SSR4 (Xq28).Visit the Orphanet disease page for more resources.

MalaCards based summary : Ssr4-Cdg, also known as congenital disorder of glycosylation type 1y, is related to congenital disorder of glycosylation, type ii and congenital disorder of glycosylation, type iy. An important gene associated with Ssr4-Cdg is SSR4 (Signal Sequence Receptor Subunit 4). Affiliated tissues include eye and kidney, and related phenotypes are joint dislocation and intellectual disability

Related Diseases for Ssr4-Cdg

Diseases related to Ssr4-Cdg via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 congenital disorder of glycosylation, type ii 11.3
2 congenital disorder of glycosylation, type iy 11.1

Symptoms & Phenotypes for Ssr4-Cdg

Human phenotypes related to Ssr4-Cdg:

32 (show all 24)
# Description HPO Frequency HPO Source Accession
1 joint dislocation 32 occasional (7.5%) HP:0001373
2 intellectual disability 32 obligate (100%) HP:0001249
3 seizures 32 frequent (33%) HP:0001250
4 failure to thrive 32 hallmark (90%) HP:0001508
5 scoliosis 32 occasional (7.5%) HP:0002650
6 macrotia 32 hallmark (90%) HP:0000400
7 widely spaced teeth 32 hallmark (90%) HP:0000687
8 global developmental delay 32 obligate (100%) HP:0001263
9 abnormal facial shape 32 obligate (100%) HP:0001999
10 microcephaly 32 obligate (100%) HP:0000252
11 gastroesophageal reflux 32 hallmark (90%) HP:0002020
12 vomiting 32 hallmark (90%) HP:0002013
13 feeding difficulties 32 hallmark (90%) HP:0011968
14 strabismus 32 hallmark (90%) HP:0000486
15 patent ductus arteriosus 32 very rare (1%) HP:0001643
16 horseshoe kidney 32 occasional (7.5%) HP:0000085
17 wide mouth 32 hallmark (90%) HP:0000154
18 deeply set eye 32 hallmark (90%) HP:0000490
19 absent septum pellucidum 32 occasional (7.5%) HP:0001331
20 generalized hypotonia 32 obligate (100%) HP:0001290
21 hypoplasia of the corpus callosum 32 occasional (7.5%) HP:0002079
22 abnormality of the periventricular white matter 32 occasional (7.5%) HP:0002518
23 abnormality of the coagulation cascade 32 very rare (1%) HP:0003256
24 abnormality of upper lip vermillion 32 hallmark (90%) HP:0011339

Drugs & Therapeutics for Ssr4-Cdg

Search Clinical Trials , NIH Clinical Center for Ssr4-Cdg

Genetic Tests for Ssr4-Cdg

Genetic tests related to Ssr4-Cdg:

# Genetic test Affiliating Genes
1 Congenital Disorder of Glycosylation Type 1y 29 SSR4

Anatomical Context for Ssr4-Cdg

MalaCards organs/tissues related to Ssr4-Cdg:

41
Eye, Kidney

Publications for Ssr4-Cdg

Articles related to Ssr4-Cdg:

# Title Authors Year
1
Expanding the Molecular and Clinical Phenotype of SSR4-CDG. ( 26264460 )
2015

Variations for Ssr4-Cdg

Expression for Ssr4-Cdg

Search GEO for disease gene expression data for Ssr4-Cdg.

Pathways for Ssr4-Cdg

GO Terms for Ssr4-Cdg

Sources for Ssr4-Cdg

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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