MCID: CNG403
MIFTS: 29

Congenital Disorder of Glycosylation, Type Ix

Categories: Genetic diseases, Neuronal diseases, Metabolic diseases, Rare diseases, Liver diseases, Skin diseases, Cardiovascular diseases, Fetal 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 Ix

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

Name: Congenital Disorder of Glycosylation, Type Ix 57 73
Congenital Disorder of Glycosylation Type 1x 59 29 6
Cdg1x 57 59 75
Congenital Disorder of Glycosylation Type Ix 59 75
Cdg Ix 57 75
Cdg-Ix 59 75
Cdgix 57 75
Carbohydrate Deficient Glycoprotein Syndrome Type Ix 59
Glycosylation, Congenital Disorder of, Type Ix 40
Congenital Disorder of Glycosylation 1x 75
Cdg Syndrome Type Ix 59
Cdg Ix; Cdgix 57
Stt3b-Cdg 59

Characteristics:

Orphanet epidemiological data:

59
stt3b-cdg
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
congenital disorder of glycosylation, type ix:
Onset and clinical course congenital onset
Mortality/Aging death in childhood
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Congenital Disorder of Glycosylation, Type Ix

UniProtKB/Swiss-Prot : 75 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 congenital disorder of glycosylation, type in. An important gene associated with Congenital Disorder of Glycosylation, Type Ix is STT3B (STT3B, Catalytic Subunit Of The Oligosaccharyltransferase Complex). Affiliated tissues include liver, 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 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 Ix via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 stt3a-cdg and stt3b-cdg 11.7
2 congenital disorder of glycosylation, type in 10.0

Symptoms & Phenotypes for Congenital Disorder of Glycosylation, Type Ix

Symptoms via clinical synopsis from OMIM:

57
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

GenitourinaryInternal GenitaliaMale:
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

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

59 32 (show all 18)
# 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 optic atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0000648
7 feeding difficulties 59 32 obligate (100%) Obligate (100%) HP:0011968
8 respiratory distress 59 32 frequent (33%) Frequent (79-30%) HP:0002098
9 cryptorchidism 59 32 frequent (33%) Frequent (79-30%) HP:0000028
10 intrauterine growth retardation 59 32 frequent (33%) Frequent (79-30%) HP:0001511
11 thrombocytopenia 59 32 frequent (33%) Frequent (79-30%) HP:0001873
12 cerebellar atrophy 59 32 obligate (100%) Obligate (100%) HP:0001272
13 scrotal hypoplasia 59 32 frequent (33%) Frequent (79-30%) HP:0000046
14 micropenis 59 32 frequent (33%) Frequent (79-30%) HP:0000054
15 generalized hypotonia 59 32 obligate (100%) Obligate (100%) HP:0001290
16 abnormal glycosylation 59 32 obligate (100%) Obligate (100%) HP:0012345
17 decreased liver function 32 HP:0001410
18 abnormality of the genital system 59 Frequent (79-30%)

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 29 STT3B

Anatomical Context for Congenital Disorder of Glycosylation, Type Ix

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

41
Liver

Publications for Congenital Disorder of Glycosylation, Type Ix

Articles related to Congenital Disorder of Glycosylation, Type Ix:

# Title Authors Year
1
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

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 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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