MCID: NGL006
MIFTS: 13

Ngly1-Related Congenital Disorder of Deglycosylation

Categories: Eye diseases, Neuronal diseases

Aliases & Classifications for Ngly1-Related Congenital Disorder of Deglycosylation

MalaCards integrated aliases for Ngly1-Related Congenital Disorder of Deglycosylation:

Name: Ngly1-Related Congenital Disorder of Deglycosylation 24
Ngly1-Related Disorder 24
Ngly1 Deficiency 24
Ngly1-Cddg 24

Classifications:



Summaries for Ngly1-Related Congenital Disorder of Deglycosylation

MalaCards based summary : Ngly1-Related Congenital Disorder of Deglycosylation, also known as ngly1-related disorder, is related to congenital disorder of deglycosylation and alacrima, achalasia, and mental retardation syndrome. An important gene associated with Ngly1-Related Congenital Disorder of Deglycosylation is NGLY1 (N-Glycanase 1).

GeneReviews: NBK481554

Related Diseases for Ngly1-Related Congenital Disorder of Deglycosylation

Diseases in the Ngly1-Congenital Disorder of Deglycosylation family:

Ngly1-Related Congenital Disorder of Deglycosylation

Diseases related to Ngly1-Related Congenital Disorder of Deglycosylation via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 27)
# Related Disease Score Top Affiliating Genes
1 congenital disorder of deglycosylation 10.3
2 alacrima, achalasia, and mental retardation syndrome 10.3
3 sleep apnea 10.3
4 scoliosis 10.3
5 constipation 10.3
6 peripheral nervous system disease 10.3
7 neuropathy 10.3
8 central sleep apnea 10.3
9 congenital disorders of n-linked glycosylation and multiple pathway 10.3
10 auditory neuropathy spectrum disorder 10.3
11 ngly1-congenital disorder of deglycosylation 10.3
12 seizure disorder 10.3
13 tremor 10.3
14 3-methylglutaconic aciduria, type iii 10.2
15 cone dystrophy 10.2
16 measles 10.2
17 rubella 10.2
18 hypermobile ehlers-danlos syndrome 10.2
19 huntington disease 10.1
20 aspartylglucosaminuria 10.1
21 autosomal recessive disease 10.1
22 movement disease 10.1
23 strabismus 10.1
24 mechanical strabismus 10.1
25 blepharitis 10.1
26 microcephaly 10.1
27 hypotonia 10.1

Graphical network of the top 20 diseases related to Ngly1-Related Congenital Disorder of Deglycosylation:



Diseases related to Ngly1-Related Congenital Disorder of Deglycosylation

Symptoms & Phenotypes for Ngly1-Related Congenital Disorder of Deglycosylation

Drugs & Therapeutics for Ngly1-Related Congenital Disorder of Deglycosylation

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 NGLY1 Deficiency: A Prospective Natural History Study Recruiting NCT03834987

Search NIH Clinical Center for Ngly1-Related Congenital Disorder of Deglycosylation

Genetic Tests for Ngly1-Related Congenital Disorder of Deglycosylation

Anatomical Context for Ngly1-Related Congenital Disorder of Deglycosylation

Publications for Ngly1-Related Congenital Disorder of Deglycosylation

Articles related to Ngly1-Related Congenital Disorder of Deglycosylation:

(show all 26)
# Title Authors PMID Year
1
Multi-systemic involvement in NGLY1-related disorder caused by two novel mutations. 38 4
25707956 2015
2
Mitochondrial function requires NGLY1. 4
28750948 2018
3
Repurposing of Proton Pump Inhibitors as first identified small molecule inhibitors of endo-β-N-acetylglucosaminidase (ENGase) for the treatment of NGLY1 deficiency, a rare genetic disease. 4
28512024 2017
4
Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation. 4
27388694 2017
5
The genetics and pathology of mitochondrial disease. 4
27659608 2017
6
Catabolism of N-glycoproteins in mammalian cells: Molecular mechanisms and genetic disorders related to the processes. 4
27237602 2016
7
Proteasome dysfunction triggers activation of SKN-1A/Nrf1 by the aspartic protease DDI-1. 4
27528192 2016
8
Novel genetic causes for cerebral visual impairment. 4
26350515 2016
9
Monoamine neurotransmitter disorders--clinical advances and future perspectives. 4
26392380 2015
10
Endo-β-N-acetylglucosaminidase forms N-GlcNAc protein aggregates during ER-associated degradation in Ngly1-defective cells. 4
25605922 2015
11
NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy. 4
25220016 2015
12
Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway. 4
24651605 2014
13
What is new for monoamine neurotransmitter disorders? 4
24696406 2014
14
Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction. 4
24035193 2013
15
Homovanillic acid in cerebrospinal fluid of 1388 children with neurological disorders. 4
23480488 2013
16
Clinical application of exome sequencing in undiagnosed genetic conditions. 4
22581936 2012
17
Neurology of inherited glycosylation disorders. 4
22516080 2012
18
Hereditary sensory autonomic neuropathy caused by a mutation in dystonin. 4
22522446 2012
19
CDG nomenclature: time for a change! 4
19765534 2009
20
The phenotypic spectrum of paediatric neurotransmitter diseases and infantile parkinsonism. 4
19107571 2009
21
International Conference on Harmonisation; guidance on E14 Clinical Evaluation of QT/QTc Interval Prolongation and Proarrhythmic Potential for Non-Antiarrhythmic Drugs; availability. Notice. 4
16237860 2005
22
Familial dysautonomia is caused by mutations of the IKAP gene. 4
11179021 2001
23
Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene. 4
11159947 2001
24
Mutant WD-repeat protein in triple-A syndrome. 4
11062474 2000
25
PNG1, a yeast gene encoding a highly conserved peptide:N-glycanase. 4
10831608 2000
26
NGLY1-Related Congenital Disorder of Deglycosylation 38
29419975 2018

Variations for Ngly1-Related Congenital Disorder of Deglycosylation

Expression for Ngly1-Related Congenital Disorder of Deglycosylation

Search GEO for disease gene expression data for Ngly1-Related Congenital Disorder of Deglycosylation.

Pathways for Ngly1-Related Congenital Disorder of Deglycosylation

GO Terms for Ngly1-Related Congenital Disorder of Deglycosylation

Sources for Ngly1-Related Congenital Disorder of Deglycosylation

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
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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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