MCID: CNG378
MIFTS: 25

Congenital Disorder of Glycosylation, Type Ir

Categories: Genetic diseases, Neuronal diseases, Liver diseases, Metabolic diseases, Rare 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 Ir

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

Name: Congenital Disorder of Glycosylation, Type Ir 57 13 73
Cdg1r 57 59 75
Congenital Disorder of Glycosylation Type Ir 59 75
Cdg-Ir 59 75
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 1r 75
Cdg Syndrome Type Ir 59
Ddost-Cdg 59
Cdg Ir 75
Cdgir 75

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:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Congenital Disorder of Glycosylation, Type Ir

UniProtKB/Swiss-Prot : 75 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 cdg1r, 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

Description from OMIM: 614507

Related Diseases for Congenital Disorder of Glycosylation, Type Ir

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

Symptoms & Phenotypes for Congenital Disorder of Glycosylation, Type Ir

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

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 dry skin 59 32 occasional (7.5%) Occasional (29-5%) HP:0000958
10 hepatic steatosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001397
11 elevated hepatic transaminases 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 generalized hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001290
15 esotropia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000565
16 lipodystrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0009125
17 cns hypomyelination 59 32 hallmark (90%) Very frequent (99-80%) HP:0003429
18 abnormality of the coagulation cascade 59 32 hallmark (90%) Very frequent (99-80%) HP:0003256
19 primary hypothyroidism 59 32 very rare (1%) Very rare (<4-1%) HP:0000832
20 type i transferrin isoform profile 59 32 hallmark (90%) Very frequent (99-80%) HP:0003642
21 oromotor apraxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0007301
22 recurrent ear infections 59 32 hallmark (90%) Very frequent (99-80%) HP:0410018
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

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

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

Variations for Congenital Disorder of Glycosylation, Type Ir

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

75
# 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 12)
# 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

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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7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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31 HMDB
32 HPO
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45 MESH via Orphanet
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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73 UMLS
74 UMLS via Orphanet
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