CDG1R
MCID: CNG378
MIFTS: 28

Congenital Disorder of Glycosylation, Type Ir (CDG1R)

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 Ir

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

Name: Congenital Disorder of Glycosylation, Type Ir 57 13 72
Congenital Disorder of Glycosylation Type Ir 59 74 29 6
Cdg1r 57 59 74
Congenital Disorder of Glycosylation 1r 12 74
Cdg-Ir 59 74
Carbohydrate Deficient Glycoprotein Syndrome Type Ir 59
Glycosylation, Congenital Disorder of, Type Ir 40
Congenital Disorder of Glycosylation Type 1r 59
Congenital Disorder of Glycosylation Ir 12
Cdg Syndrome Type Ir 59
Ddost-Cdg 59
Cdg Ir 74
Cdgir 74

Characteristics:

Orphanet epidemiological data:

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

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
one patient has been reported (as of february 2012)


HPO:

32
congenital disorder of glycosylation, type ir:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0080569
MeSH 44 D018981
ICD10 via Orphanet 34 E77.8
Orphanet 59 ORPHA300536
MedGen 42 C3281084
UMLS 72 C3281084

Summaries for Congenital Disorder of Glycosylation, Type Ir

UniProtKB/Swiss-Prot : 74 Congenital disorder of glycosylation 1R: 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 Ir, is also known as congenital disorder of glycosylation type ir, and has symptoms including constipation An important gene associated with Congenital Disorder of Glycosylation, Type Ir is DDOST (Dolichyl-Diphosphooligosaccharide--Protein Glycosyltransferase Non-Catalytic Subunit). Affiliated tissues include liver and skin, and related phenotypes are osteopenia and seizures

Disease Ontology : 12 A congenital disorder of glycosylation I that is characterized by failure to thrive, developmental delay, hypotonia, strabismus and hepatic dysfunction and has material basis in compound heterozygous mutation in the DDOST gene on chromosome 1p36.

More information from OMIM: 614507 PS212065

Related Diseases for Congenital Disorder of Glycosylation, Type Ir

Diseases in the Disorder of Multiple Glycosylation 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 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

Symptoms & Phenotypes for Congenital Disorder of Glycosylation, Type Ir

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

59 32 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 osteopenia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000938
2 seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0001250
3 tremor 59 32 hallmark (90%) Very frequent (99-80%) HP:0001337
4 failure to thrive 59 32 hallmark (90%) Very frequent (99-80%) HP:0001508
5 constipation 59 32 hallmark (90%) Very frequent (99-80%) HP:0002019
6 neurological speech impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0002167
7 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
8 gastroesophageal reflux 59 32 hallmark (90%) Very frequent (99-80%) HP:0002020
9 generalized hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001290
10 hepatic steatosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001397
11 elevated hepatic transaminase 59 32 hallmark (90%) Very frequent (99-80%) HP:0002910
12 neurodevelopmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0012758
13 accelerated skeletal maturation 59 32 hallmark (90%) Very frequent (99-80%) HP:0005616
14 abnormality of the coagulation cascade 59 32 hallmark (90%) Very frequent (99-80%) HP:0003256
15 esotropia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000565
16 recurrent ear infections 59 32 hallmark (90%) Very frequent (99-80%) HP:0410018
17 cns hypomyelination 59 32 hallmark (90%) Very frequent (99-80%) HP:0003429
18 type i transferrin isoform profile 59 32 hallmark (90%) Very frequent (99-80%) HP:0003642
19 oromotor apraxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0007301
20 dry skin 59 32 occasional (7.5%) Occasional (29-5%) HP:0000958
21 lipodystrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0009125
22 primary hypothyroidism 59 32 very rare (1%) Very rare (<4-1%) HP:0000832
23 nephrotic range proteinuria 59 32 very rare (1%) Very rare (<4-1%) HP:0012593
24 global developmental delay 32 HP:0001263
25 decreased liver function 32 HP:0001410
26 strabismus 32 HP:0000486

Symptoms via clinical synopsis from OMIM:

57
Growth Other:
failure to thrive

Head And Neck Eyes:
strabismus

Muscle Soft Tissue:
hypotonia

Laboratory Abnormalities:
abnormal isoelectric focusing of serum transferrin (type 1 pattern)

Head And Neck Mouth:
oromotor dysfunction

Abdomen Gastrointestinal:
constipation
gastroesophageal reflux

Head And Neck Ears:
recurrent ear infections

Neurologic Central Nervous System:
delayed psychomotor development
lack of speech development
disordered myelination

Abdomen Liver:
liver dysfunction, mild

Hematology:
deficiency of coagulation factors

Clinical features from OMIM:

614507

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


constipation

Drugs & Therapeutics for Congenital Disorder of Glycosylation, Type Ir

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

Genetic Tests for Congenital Disorder of Glycosylation, Type Ir

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

# Genetic test Affiliating Genes
1 Congenital Disorder of Glycosylation Type Ir 29 DDOST

Anatomical Context for Congenital Disorder of Glycosylation, Type Ir

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

41
Liver, Skin

Publications for Congenital Disorder of Glycosylation, Type Ir

Articles related to Congenital Disorder of Glycosylation, Type Ir:

# Title Authors PMID Year
1
DDOST mutations identified by whole-exome sequencing are implicated in congenital disorders of glycosylation. 8 71
22305527 2012
2
Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview 71
20301507 2005

Variations for Congenital Disorder of Glycosylation, Type Ir

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

6 (show all 11)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 DDOST NM_005216.4(DDOST): c.1265_1286del (p.Ile422fs) deletion Pathogenic rs587776874 1:20978957-20978978 1:20652464-20652485
2 DDOST NM_005216.4(DDOST): c.650G> A (p.Gly217Asp) single nucleotide variant Pathogenic rs387906831 1:20981153-20981153 1:20654660-20654660
3 DDOST NM_005216.4(DDOST): c.696G> C (p.Gln232His) single nucleotide variant Likely pathogenic rs867045420 1:20981107-20981107 1:20654614-20654614
4 DDOST NM_005216.4(DDOST): c.219G> A (p.Glu73=) single nucleotide variant Conflicting interpretations of pathogenicity rs747449468 1:20987471-20987471 1:20660978-20660978
5 DDOST NM_005216.4(DDOST): c.827C> T (p.Ala276Val) single nucleotide variant Conflicting interpretations of pathogenicity rs138061134 1:20980734-20980734 1:20654241-20654241
6 DDOST NC_000001.10: g.(?_20978852)_(20987914_?)del deletion Uncertain significance 1:20978852-20987914 1:20652359-20661421
7 DDOST NM_005216.4(DDOST): c.647C> T (p.Thr216Met) single nucleotide variant Uncertain significance 1:20981156-20981156 1:20654663-20654663
8 DDOST NM_005216.4(DDOST): c.32C> G (p.Ser11Cys) single nucleotide variant Uncertain significance 1:20987863-20987863 1:20661370-20661370
9 DDOST NM_005216.4(DDOST): c.22G> C (p.Gly8Arg) single nucleotide variant Benign rs537816 1:20987873-20987873 1:20661380-20661380
10 DDOST NM_005216.4(DDOST): c.1325T> A (p.Phe442Tyr) single nucleotide variant not provided 1:20978918-20978918 1:20652425-20652425
11 DDOST NM_005216.4(DDOST): c.20C> G (p.Ala7Gly) single nucleotide variant not provided 1:20987875-20987875 1:20661382-20661382

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

74
# Symbol AA change Variation ID SNP ID
1 DDOST p.Gly217Asp VAR_067544 rs387906831

Expression for Congenital Disorder of Glycosylation, Type Ir

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

Pathways for Congenital Disorder of Glycosylation, Type Ir

GO Terms for Congenital Disorder of Glycosylation, Type Ir

Sources for Congenital Disorder of Glycosylation, Type Ir

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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
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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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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