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 57 73
Congenital Disorder of Glycosylation Type 1w 59 29 6
Cdg1w 57 59 75
Congenital Disorder of Glycosylation Type Iw 59 75
Cdg Iw 57 75
Cdg-Iw 59 75
Cdgiw 57 75
Glycosylation, Congenital Disorder of, Type Iw 40
Congenital Disorder of Glycosylation 1w 75
Cdg Syndrome Type Iw 59
Cdg Iw; Cdgiw 57
Stt3a-Cdg 59

Characteristics:

Orphanet epidemiological data:

59
stt3a-cdg
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
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 : 75 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 (STT3A, Catalytic Subunit Of The Oligosaccharyltransferase Complex). 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 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 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

Symptoms via clinical synopsis from OMIM:

57
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

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

59 32 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 59 32 obligate (100%) Obligate (100%) HP:0001249
2 seizures 59 32 obligate (100%) Obligate (100%) HP:0001250
3 failure to thrive 59 32 obligate (100%) Obligate (100%) HP:0001508
4 global developmental delay 59 32 obligate (100%) Obligate (100%) HP:0001263
5 microcephaly 59 32 obligate (100%) Obligate (100%) HP:0000252
6 feeding difficulties 59 32 obligate (100%) Obligate (100%) HP:0011968
7 cryptorchidism 59 32 frequent (33%) Frequent (79-30%) HP:0000028
8 cerebellar atrophy 59 32 obligate (100%) Obligate (100%) HP:0001272
9 micropenis 59 32 frequent (33%) Frequent (79-30%) HP:0000054
10 generalized hypotonia 59 32 obligate (100%) Obligate (100%) HP:0001290
11 scrotal hypoplasia 59 32 frequent (33%) Frequent (79-30%) HP:0000046
12 impaired smooth pursuit 59 32 frequent (33%) Frequent (79-30%) HP:0007772
13 abnormal glycosylation 59 32 obligate (100%) Obligate (100%) HP:0012345

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 29 STT3A

Anatomical Context for Congenital Disorder of Glycosylation, Type Iw

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

41
Skin, Liver, Bone, Eye

Publications for Congenital Disorder of Glycosylation, Type Iw

Variations for Congenital Disorder of Glycosylation, Type Iw

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

75
# 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 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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