CDG1AA
MCID: CNG512
MIFTS: 18

Congenital Disorder of Glycosylation, Type Iaa (CDG1AA)

Categories: Genetic diseases

Aliases & Classifications for Congenital Disorder of Glycosylation, Type Iaa

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

Name: Congenital Disorder of Glycosylation, Type Iaa 58 30 6
Congenital Disorder of Glycosylation, Type 1aa 58 76
Cdg1aa 58 76
Glycosylation, Congenital Disorder of, Type Iaa 41
Congenital Disorder of Glycosylation 1aa 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
two sibs have been reported (last curated august 2016)


HPO:

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


Classifications:



Summaries for Congenital Disorder of Glycosylation, Type Iaa

UniProtKB/Swiss-Prot : 76 Congenital disorder of glycosylation 1AA: 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. CDG1AA inheritance is autosomal recessive.

MalaCards based summary : Congenital Disorder of Glycosylation, Type Iaa, is also known as congenital disorder of glycosylation, type 1aa. An important gene associated with Congenital Disorder of Glycosylation, Type Iaa is NUS1 (NUS1 Dehydrodolichyl Diphosphate Synthase Subunit). Related phenotypes are spasticity and failure to thrive

Description from OMIM: 617082

Related Diseases for Congenital Disorder of Glycosylation, Type Iaa

Symptoms & Phenotypes for Congenital Disorder of Glycosylation, Type Iaa

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

33 (show all 12)
# Description HPO Frequency HPO Source Accession
1 spasticity 33 HP:0001257
2 failure to thrive 33 HP:0001508
3 scoliosis 33 HP:0002650
4 hearing impairment 33 HP:0000365
5 global developmental delay 33 HP:0001263
6 microcephaly 33 HP:0000252
7 visual impairment 33 HP:0000505
8 intrauterine growth retardation 33 HP:0001511
9 cerebral cortical atrophy 33 HP:0002120
10 status epilepticus 33 HP:0002133
11 generalized hypotonia 33 HP:0001290
12 hypertrichosis 33 HP:0000998

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
spasticity
status epilepticus
seizures, refractory
cortical atrophy
delayed psychomotor development, profound
more
Head And Neck Ears:
hearing impairment

Head And Neck Eyes:
visual impairment
retinal pigmentary mottling
macular lesions

Muscle Soft Tissue:
hypotonia

Laboratory Abnormalities:
hypoglycosylation of lamp1 and icam1

Growth Other:
failure to thrive
intrauterine growth retardation (iugr)

Head And Neck Head:
microcephaly

Skin Nails Hair Hair:
hypertrichosis

Skeletal Spine:
scoliosis, congenital

Clinical features from OMIM:

617082

Drugs & Therapeutics for Congenital Disorder of Glycosylation, Type Iaa

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

Genetic Tests for Congenital Disorder of Glycosylation, Type Iaa

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

# Genetic test Affiliating Genes
1 Congenital Disorder of Glycosylation, Type Iaa 30 NUS1

Anatomical Context for Congenital Disorder of Glycosylation, Type Iaa

Publications for Congenital Disorder of Glycosylation, Type Iaa

Articles related to Congenital Disorder of Glycosylation, Type Iaa:

# Title Authors Year
1
Mutation of Nogo-B receptor, a subunit of cis-prenyltransferase, causes a congenital disorder of glycosylation. ( 25066056 )
2014

Variations for Congenital Disorder of Glycosylation, Type Iaa

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

76
# Symbol AA change Variation ID SNP ID
1 NUS1 p.Arg290His VAR_071210 rs886037858

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NUS1 NM_138459.4(NUS1): c.869G> A (p.Arg290His) single nucleotide variant Pathogenic rs886037858 GRCh37 Chromosome 6, 118028165: 118028165
2 NUS1 NM_138459.4(NUS1): c.869G> A (p.Arg290His) single nucleotide variant Pathogenic rs886037858 GRCh38 Chromosome 6, 117707002: 117707002
3 NUS1 NM_138459.4(NUS1): c.803C> A (p.Ser268Tyr) single nucleotide variant Uncertain significance rs1554202852 GRCh38 Chromosome 6, 117706936: 117706936
4 NUS1 NM_138459.4(NUS1): c.803C> A (p.Ser268Tyr) single nucleotide variant Uncertain significance rs1554202852 GRCh37 Chromosome 6, 118028099: 118028099
5 NUS1 NM_138459.4(NUS1): c.198_199delCCinsAT (p.Arg67Cys) indel Uncertain significance GRCh37 Chromosome 6, 117997031: 117997032
6 NUS1 NM_138459.4(NUS1): c.198_199delCCinsAT (p.Arg67Cys) indel Uncertain significance GRCh38 Chromosome 6, 117675868: 117675869
7 NUS1 NM_138459.4(NUS1): c.506C> G (p.Pro169Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 6, 118014295: 118014295
8 NUS1 NM_138459.4(NUS1): c.506C> G (p.Pro169Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 6, 117693132: 117693132
9 NUS1 NM_138459.4(NUS1): c.790G> A (p.Val264Ile) single nucleotide variant Uncertain significance GRCh38 Chromosome 6, 117703703: 117703703
10 NUS1 NM_138459.4(NUS1): c.790G> A (p.Val264Ile) single nucleotide variant Uncertain significance GRCh37 Chromosome 6, 118024866: 118024866

Expression for Congenital Disorder of Glycosylation, Type Iaa

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

Pathways for Congenital Disorder of Glycosylation, Type Iaa

GO Terms for Congenital Disorder of Glycosylation, Type Iaa

Sources for Congenital Disorder of Glycosylation, Type Iaa

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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