MCID: CNG512
MIFTS: 17

Congenital Disorder of Glycosylation, Type Iaa

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 57 29 6
Congenital Disorder of Glycosylation, Type 1aa 57 75
Cdg1aa 57 75
Congenital Disorder of Glycosylation 1aa 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
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 : 75 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 microcephaly and hearing impairment

Description from OMIM: 617082

Related Diseases for Congenital Disorder of Glycosylation, Type Iaa

Symptoms & Phenotypes for Congenital Disorder of Glycosylation, Type Iaa

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 12)
# Description HPO Frequency HPO Source Accession
1 microcephaly 32 HP:0000252
2 hearing impairment 32 HP:0000365
3 visual impairment 32 HP:0000505
4 hypertrichosis 32 HP:0000998
5 spasticity 32 HP:0001257
6 global developmental delay 32 HP:0001263
7 generalized hypotonia 32 HP:0001290
8 failure to thrive 32 HP:0001508
9 intrauterine growth retardation 32 HP:0001511
10 cerebral cortical atrophy 32 HP:0002120
11 status epilepticus 32 HP:0002133
12 scoliosis 32 HP:0002650

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 29 NUS1

Anatomical Context for Congenital Disorder of Glycosylation, Type Iaa

Publications for Congenital Disorder of Glycosylation, Type Iaa

Variations for Congenital Disorder of Glycosylation, Type Iaa

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

75
# 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 GRCh38 Chromosome 6, 117706936: 117706936
4 NUS1 NM_138459.4(NUS1): c.803C> A (p.Ser268Tyr) single nucleotide variant Uncertain significance GRCh37 Chromosome 6, 118028099: 118028099

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 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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