CDG1X
MCID: CNG403
MIFTS: 31

Congenital Disorder of Glycosylation, Type Ix (CDG1X)

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 Ix

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

Name: Congenital Disorder of Glycosylation, Type Ix 58 74
Congenital Disorder of Glycosylation Type 1x 60 30 6
Cdg1x 58 60 76
Congenital Disorder of Glycosylation Type Ix 60 76
Cdg Ix 58 76
Cdg-Ix 60 76
Cdgix 58 76
Carbohydrate Deficient Glycoprotein Syndrome Type Ix 60
Glycosylation, Congenital Disorder of, Type Ix 41
Congenital Disorder of Glycosylation 1x 76
Cdg Syndrome Type Ix 60
Cdg Ix; Cdgix 58
Stt3b-Cdg 60

Characteristics:

Orphanet epidemiological data:

60
stt3b-cdg
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
death in childhood
one patient has been reported (last curated january 2014)


HPO:

33
congenital disorder of glycosylation, type ix:
Onset and clinical course congenital onset
Clinical modifier death in childhood
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Congenital Disorder of Glycosylation, Type Ix

UniProtKB/Swiss-Prot : 76 Congenital disorder of glycosylation 1X: 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 Ix, also known as congenital disorder of glycosylation type 1x, is related to stt3a-cdg and stt3b-cdg and budd-chiari syndrome. An important gene associated with Congenital Disorder of Glycosylation, Type Ix is STT3B (STT3 Oligosaccharyltransferase Complex Catalytic Subunit B). Affiliated tissues include liver, skin and bone, and related phenotypes are intellectual disability and seizures

Description from OMIM: 615597

Related Diseases for Congenital Disorder of Glycosylation, Type Ix

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

# Related Disease Score Top Affiliating Genes
1 stt3a-cdg and stt3b-cdg 11.9
2 budd-chiari syndrome 10.1
3 congenital disorder of glycosylation, type in 10.1

Symptoms & Phenotypes for Congenital Disorder of Glycosylation, Type Ix

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

60 33 (show all 18)
# 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 optic atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0000648
11 respiratory distress 60 33 frequent (33%) Frequent (79-30%) HP:0002098
12 cryptorchidism 60 33 frequent (33%) Frequent (79-30%) HP:0000028
13 intrauterine growth retardation 60 33 frequent (33%) Frequent (79-30%) HP:0001511
14 thrombocytopenia 60 33 frequent (33%) Frequent (79-30%) HP:0001873
15 micropenis 60 33 frequent (33%) Frequent (79-30%) HP:0000054
16 scrotal hypoplasia 60 33 frequent (33%) Frequent (79-30%) HP:0000046
17 decreased liver function 33 HP:0001410
18 abnormality of the genital system 60 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM:

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

Head And Neck Head:
microcephaly

Hematology:
thrombocytopenia

Respiratory:
respiratory difficulties

Abdomen Gastrointestinal:
feeding problems

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

Growth Other:
failure to thrive
intrauterine growth retardation

Genitourinary Internal Genitalia Male:
cryptorchidism

Genitourinary External Genitalia Male:
micropenis
hypoplastic scrotum

Head And Neck Eyes:
optic nerve atrophy
no visual tracking

Abdomen Liver:
liver dysfunction

Clinical features from OMIM:

615597

Drugs & Therapeutics for Congenital Disorder of Glycosylation, Type Ix

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

Genetic Tests for Congenital Disorder of Glycosylation, Type Ix

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

# Genetic test Affiliating Genes
1 Congenital Disorder of Glycosylation Type 1x 30 STT3B

Anatomical Context for Congenital Disorder of Glycosylation, Type Ix

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

42
Liver, Skin, Bone, Eye

Publications for Congenital Disorder of Glycosylation, Type Ix

Articles related to Congenital Disorder of Glycosylation, Type Ix:

# Title Authors Year
1
Mutations in STT3A and STT3B cause two congenital disorders of glycosylation. ( 23842455 )
2013
2
Congenital disorder of glycosylation type Ix: review of clinical spectrum and diagnostic steps. ( 18500572 )
2008

Variations for Congenital Disorder of Glycosylation, Type Ix

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 STT3B NM_178862.2(STT3B): c.1539+20G> T single nucleotide variant Pathogenic rs587777217 GRCh37 Chromosome 3, 31663820: 31663820
2 STT3B NM_178862.2(STT3B): c.1539+20G> T single nucleotide variant Pathogenic rs587777217 GRCh38 Chromosome 3, 31622328: 31622328
3 STT3B NM_178862.2(STT3B): c.1764C> T (p.Tyr588=) single nucleotide variant Benign rs34176522 GRCh37 Chromosome 3, 31666442: 31666442
4 STT3B NM_178862.2(STT3B): c.1764C> T (p.Tyr588=) single nucleotide variant Benign rs34176522 GRCh38 Chromosome 3, 31624950: 31624950
5 STT3B NM_178862.2(STT3B): c.777+7T> G single nucleotide variant Benign rs76400963 GRCh37 Chromosome 3, 31638362: 31638362
6 STT3B NM_178862.2(STT3B): c.777+7T> G single nucleotide variant Benign rs76400963 GRCh38 Chromosome 3, 31596870: 31596870
7 STT3B NM_178862.2(STT3B): c.619A> G (p.Ile207Val) single nucleotide variant Uncertain significance rs780102016 GRCh37 Chromosome 3, 31621496: 31621496
8 STT3B NM_178862.2(STT3B): c.619A> G (p.Ile207Val) single nucleotide variant Uncertain significance rs780102016 GRCh38 Chromosome 3, 31580004: 31580004
9 STT3B NM_178862.2(STT3B): c.895A> G (p.Ile299Val) single nucleotide variant not provided GRCh37 Chromosome 3, 31656614: 31656614
10 STT3B NM_178862.2(STT3B): c.895A> G (p.Ile299Val) single nucleotide variant not provided GRCh38 Chromosome 3, 31615122: 31615122

Expression for Congenital Disorder of Glycosylation, Type Ix

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

Pathways for Congenital Disorder of Glycosylation, Type Ix

GO Terms for Congenital Disorder of Glycosylation, Type Ix

Sources for Congenital Disorder of Glycosylation, Type Ix

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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