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 58 13 74
Congenital Disorder of Glycosylation Type Ir 60 76 30 6
Cdg1r 58 60 76
Cdg-Ir 60 76
Carbohydrate Deficient Glycoprotein Syndrome Type Ir 60
Glycosylation, Congenital Disorder of, Type Ir 41
Congenital Disorder of Glycosylation Type 1r 60
Congenital Disorder of Glycosylation 1r 76
Cdg Syndrome Type Ir 60
Ddost-Cdg 60
Cdg Ir 76
Cdgir 76

Characteristics:

Orphanet epidemiological data:

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

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

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


Classifications:



Summaries for Congenital Disorder of Glycosylation, Type Ir

UniProtKB/Swiss-Prot : 76 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 skin, liver and bone, and related phenotypes are osteopenia and seizures

Description from OMIM: 614507

Related Diseases for Congenital Disorder of Glycosylation, Type Ir

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

Symptoms & Phenotypes for Congenital Disorder of Glycosylation, Type Ir

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

60 33 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 osteopenia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000938
2 seizures 60 33 hallmark (90%) Very frequent (99-80%) HP:0001250
3 tremor 60 33 hallmark (90%) Very frequent (99-80%) HP:0001337
4 failure to thrive 60 33 hallmark (90%) Very frequent (99-80%) HP:0001508
5 constipation 60 33 hallmark (90%) Very frequent (99-80%) HP:0002019
6 neurological speech impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0002167
7 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
8 gastroesophageal reflux 60 33 hallmark (90%) Very frequent (99-80%) HP:0002020
9 hepatic steatosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0001397
10 elevated hepatic transaminase 60 33 hallmark (90%) Very frequent (99-80%) HP:0002910
11 neurodevelopmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0012758
12 accelerated skeletal maturation 60 33 hallmark (90%) Very frequent (99-80%) HP:0005616
13 generalized hypotonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001290
14 abnormality of the coagulation cascade 60 33 hallmark (90%) Very frequent (99-80%) HP:0003256
15 esotropia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000565
16 recurrent ear infections 60 33 hallmark (90%) Very frequent (99-80%) HP:0410018
17 cns hypomyelination 60 33 hallmark (90%) Very frequent (99-80%) HP:0003429
18 type i transferrin isoform profile 60 33 hallmark (90%) Very frequent (99-80%) HP:0003642
19 oromotor apraxia 60 33 hallmark (90%) Very frequent (99-80%) HP:0007301
20 dry skin 60 33 occasional (7.5%) Occasional (29-5%) HP:0000958
21 lipodystrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0009125
22 primary hypothyroidism 60 33 very rare (1%) Very rare (<4-1%) HP:0000832
23 nephrotic range proteinuria 60 33 very rare (1%) Very rare (<4-1%) HP:0012593
24 global developmental delay 33 HP:0001263
25 decreased liver function 33 HP:0001410
26 strabismus 33 HP:0000486

Symptoms via clinical synopsis from OMIM:

58
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 30 DDOST

Anatomical Context for Congenital Disorder of Glycosylation, Type Ir

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

42
Skin, Liver, Bone, Eye

Publications for Congenital Disorder of Glycosylation, Type Ir

Articles related to Congenital Disorder of Glycosylation, Type Ir:

# Title Authors Year
1
DDOST mutations identified by whole-exome sequencing are implicated in congenital disorders of glycosylation. ( 22305527 )
2012

Variations for Congenital Disorder of Glycosylation, Type Ir

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

76
# Symbol AA change Variation ID SNP ID
1 DDOST p.Gly217Asp VAR_067544 rs387906831

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

6 (show all 20)
# Gene Variation Type Significance SNP ID Assembly Location
1 DDOST NM_005216.4(DDOST): c.1265_1286del22 (p.Ile422Thrfs) deletion Pathogenic rs587776874 GRCh37 Chromosome 1, 20978957: 20978978
2 DDOST NM_005216.4(DDOST): c.1265_1286del22 (p.Ile422Thrfs) deletion Pathogenic rs587776874 GRCh38 Chromosome 1, 20652464: 20652485
3 DDOST NM_005216.4(DDOST): c.650G> A (p.Gly217Asp) single nucleotide variant Pathogenic rs387906831 GRCh37 Chromosome 1, 20981153: 20981153
4 DDOST NM_005216.4(DDOST): c.650G> A (p.Gly217Asp) single nucleotide variant Pathogenic rs387906831 GRCh38 Chromosome 1, 20654660: 20654660
5 DDOST NM_005216.4(DDOST): c.219G> A (p.Glu73=) single nucleotide variant Conflicting interpretations of pathogenicity rs747449468 GRCh38 Chromosome 1, 20660978: 20660978
6 DDOST NM_005216.4(DDOST): c.219G> A (p.Glu73=) single nucleotide variant Conflicting interpretations of pathogenicity rs747449468 GRCh37 Chromosome 1, 20987471: 20987471
7 DDOST NM_005216.4(DDOST): c.827C> T (p.Ala276Val) single nucleotide variant Conflicting interpretations of pathogenicity rs138061134 GRCh37 Chromosome 1, 20980734: 20980734
8 DDOST NM_005216.4(DDOST): c.827C> T (p.Ala276Val) single nucleotide variant Conflicting interpretations of pathogenicity rs138061134 GRCh38 Chromosome 1, 20654241: 20654241
9 DDOST NM_005216.4(DDOST): c.696G> C (p.Gln232His) single nucleotide variant Likely pathogenic rs867045420 GRCh37 Chromosome 1, 20981107: 20981107
10 DDOST NM_005216.4(DDOST): c.696G> C (p.Gln232His) single nucleotide variant Likely pathogenic rs867045420 GRCh38 Chromosome 1, 20654614: 20654614
11 DDOST NM_005216.4(DDOST): c.22G> C (p.Gly8Arg) single nucleotide variant Benign rs537816 GRCh37 Chromosome 1, 20987873: 20987873
12 DDOST NM_005216.4(DDOST): c.22G> C (p.Gly8Arg) single nucleotide variant Benign rs537816 GRCh38 Chromosome 1, 20661380: 20661380
13 DDOST NC_000001.11: g.(?_20652359)_(20661421_?)del deletion Uncertain significance GRCh37 Chromosome 1, 20978852: 20987914
14 DDOST NC_000001.11: g.(?_20652359)_(20661421_?)del deletion Uncertain significance GRCh38 Chromosome 1, 20652359: 20661421
15 DDOST NM_005216.4(DDOST): c.647C> T (p.Thr216Met) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 20981156: 20981156
16 DDOST NM_005216.4(DDOST): c.647C> T (p.Thr216Met) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 20654663: 20654663
17 DDOST NM_005216.4(DDOST): c.1325T> A (p.Phe442Tyr) single nucleotide variant not provided GRCh38 Chromosome 1, 20652425: 20652425
18 DDOST NM_005216.4(DDOST): c.1325T> A (p.Phe442Tyr) single nucleotide variant not provided GRCh37 Chromosome 1, 20978918: 20978918
19 DDOST NM_005216.4(DDOST): c.20C> G (p.Ala7Gly) single nucleotide variant not provided GRCh38 Chromosome 1, 20661382: 20661382
20 DDOST NM_005216.4(DDOST): c.20C> G (p.Ala7Gly) single nucleotide variant not provided GRCh37 Chromosome 1, 20987875: 20987875

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

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10 dbSNP
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70 SNOMED-CT via HPO
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75 UMLS via Orphanet
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