CDG1W
MCID: CNG388
MIFTS: 28

Congenital Disorder of Glycosylation, Type Iw (CDG1W)

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 Iw

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

Name: Congenital Disorder of Glycosylation, Type Iw 58 74
Congenital Disorder of Glycosylation Type 1w 60 30 6
Cdg1w 58 60 76
Congenital Disorder of Glycosylation Type Iw 60 76
Cdg Iw 58 76
Cdg-Iw 60 76
Cdgiw 58 76
Glycosylation, Congenital Disorder of, Type Iw 41
Congenital Disorder of Glycosylation 1w 76
Cdg Syndrome Type Iw 60
Cdg Iw; Cdgiw 58
Stt3a-Cdg 60

Characteristics:

Orphanet epidemiological data:

60
stt3a-cdg
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
one family has been reported (last curated january 2014)
onset at birth


HPO:

33
congenital disorder of glycosylation, type iw:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Congenital Disorder of Glycosylation, Type Iw

UniProtKB/Swiss-Prot : 76 Congenital disorder of glycosylation 1W: 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 Iw, also known as congenital disorder of glycosylation type 1w, is related to stt3a-cdg and stt3b-cdg, and has symptoms including seizures An important gene associated with Congenital Disorder of Glycosylation, Type Iw is STT3A (STT3 Oligosaccharyltransferase Complex Catalytic Subunit A). Affiliated tissues include skin, liver and bone, and related phenotypes are intellectual disability and seizures

Description from OMIM: 615596

Related Diseases for Congenital Disorder of Glycosylation, Type Iw

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 Iw via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 stt3a-cdg and stt3b-cdg 11.6

Symptoms & Phenotypes for Congenital Disorder of Glycosylation, Type Iw

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

60 33 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 60 33 obligate (100%) Obligate (100%) HP:0001249
2 seizures 60 33 obligate (100%) Obligate (100%) HP:0001250
3 failure to thrive 60 33 obligate (100%) Obligate (100%) HP:0001508
4 global developmental delay 60 33 obligate (100%) Obligate (100%) HP:0001263
5 microcephaly 60 33 obligate (100%) Obligate (100%) HP:0000252
6 feeding difficulties 60 33 obligate (100%) Obligate (100%) HP:0011968
7 cerebellar atrophy 60 33 obligate (100%) Obligate (100%) HP:0001272
8 generalized hypotonia 60 33 obligate (100%) Obligate (100%) HP:0001290
9 abnormal glycosylation 60 33 obligate (100%) Obligate (100%) HP:0012345
10 cryptorchidism 60 33 frequent (33%) Frequent (79-30%) HP:0000028
11 micropenis 60 33 frequent (33%) Frequent (79-30%) HP:0000054
12 scrotal hypoplasia 60 33 frequent (33%) Frequent (79-30%) HP:0000046
13 impaired smooth pursuit 60 33 frequent (33%) Frequent (79-30%) HP:0007772

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
seizures
cerebellar atrophy
hypotonia
mental retardation
delayed psychomotor development

Head And Neck Head:
microcephaly

Head And Neck Eyes:
poor visual tracking

Growth Other:
failure to thrive

Abdomen Gastrointestinal:
poor feeding

Laboratory Abnormalities:
abnormal glycosylation of serum transferrin, type 1 pattern
incomplete n-glycosylation of cellular proteins

Clinical features from OMIM:

615596

UMLS symptoms related to Congenital Disorder of Glycosylation, Type Iw:


seizures

Drugs & Therapeutics for Congenital Disorder of Glycosylation, Type Iw

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

Genetic Tests for Congenital Disorder of Glycosylation, Type Iw

Genetic tests related to Congenital Disorder of Glycosylation, Type Iw:

# Genetic test Affiliating Genes
1 Congenital Disorder of Glycosylation Type 1w 30 STT3A

Anatomical Context for Congenital Disorder of Glycosylation, Type Iw

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

42
Skin, Liver, Bone, Eye

Publications for Congenital Disorder of Glycosylation, Type Iw

Articles related to Congenital Disorder of Glycosylation, Type Iw:

# Title Authors Year
1
Mutations in STT3A and STT3B cause two congenital disorders of glycosylation. ( 23842455 )
2013

Variations for Congenital Disorder of Glycosylation, Type Iw

UniProtKB/Swiss-Prot genetic disease variations for Congenital Disorder of Glycosylation, Type Iw:

76
# Symbol AA change Variation ID SNP ID
1 STT3A p.Val626Ala VAR_070944 rs587777216

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 STT3A NM_001278503.1(STT3A): c.1877T> C (p.Val626Ala) single nucleotide variant Pathogenic rs587777216 GRCh38 Chromosome 11, 125618475: 125618475
2 STT3A NM_001278503.1(STT3A): c.1877T> C (p.Val626Ala) single nucleotide variant Pathogenic rs587777216 GRCh37 Chromosome 11, 125488370: 125488370

Expression for Congenital Disorder of Glycosylation, Type Iw

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

Pathways for Congenital Disorder of Glycosylation, Type Iw

GO Terms for Congenital Disorder of Glycosylation, Type Iw

Sources for Congenital Disorder of Glycosylation, Type Iw

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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