CDDG
MCID: CNG436
MIFTS: 52

Congenital Disorder of Deglycosylation (CDDG)

Categories: Eye diseases, Genetic diseases, Liver diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Congenital Disorder of Deglycosylation

MalaCards integrated aliases for Congenital Disorder of Deglycosylation:

Name: Congenital Disorder of Deglycosylation 56 12 73 29 6 71
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome 52 58
Congenital Disorder of Glycosylation Type Iv 12 73
Deficiency of N-Glycanase 1 12 52
Ngly1-Deficiency 12 15
Ngly1 Deficiency 52 58
Ngly1-Cddg 12 58
Cddg 56 73
Congenital Disorder of Glycosylation, Type Iv, Formerly; Cdg1v, Formerly 56
Congenital Disorder of Glycosylation, Type Iv, Formerly 56
Congenital Disorder of Glycosylation Type Iv; Cdg1v 52
Congenital Disorder of Deglycosylation;cddg 52
Congenital Disorder of Glycosylation 1v 73
Deglycosylation, Congenital Disorder of 39
Cdg1v, Formerly 56
Cdg1v 73
Cdgiv 73

Characteristics:

Orphanet epidemiological data:

58
alacrimia-choreoathetosis-liver dysfunction syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy


HPO:

31
congenital disorder of deglycosylation:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare skin diseases
Inborn errors of metabolism


Summaries for Congenital Disorder of Deglycosylation

NIH Rare Diseases : 52 Deficiency of N-glycanase 1 (NGLY1 deficiency) is a complex neurological syndrome in which there is a deficiency of an enzyme known as N-glycanase 1 (NGLY1). This enzyme normally helps the body remove proteins that are not functioning properly. The typical features of NGLY1 deficiency include abnormal tear production, a movement disorder (choreoathetosis), and liver disease. Additional features may include developmental delay , hypotonia (weak muscle tone), peripheral neuropathy , EEG abnormalities, and a small head size (microcephaly ). The condition is caused by mutations in the N-glycanase 1 gene (NGLY1 gene ) and is inherited in an autosomal recessive manner.

MalaCards based summary : Congenital Disorder of Deglycosylation, also known as alacrimia-choreoathetosis-liver dysfunction syndrome, is related to ngly1-related congenital disorder of deglycosylation and ngly1-congenital disorder of deglycosylation, and has symptoms including involuntary movements An important gene associated with Congenital Disorder of Deglycosylation is NGLY1 (N-Glycanase 1), and among its related pathways/superpathways are Metabolism of proteins and Transport to the Golgi and subsequent modification. The drug Serine has been mentioned in the context of this disorder. Affiliated tissues include liver, eye and brain, and related phenotypes are cerebral atrophy and sensorimotor neuropathy

Disease Ontology : 12 A carbohydrate metabolic disorder that is characterized by global developmental delay, hypotonia, abnormal involuntary movements, and alacrima or poor tear production and that has material basis in homozygous or compound heterozygous mutation in the NGLY1 gene on chromosome 1p24.

OMIM : 56 Congenital disorder of deglycosylation is an autosomal recessive multisystem disorder characterized by global developmental delay, hypotonia, abnormal involuntary movements, and alacrima or poor tear production. Other common features include microcephaly, intractable seizures, abnormal eye movements, and evidence of liver dysfunction. Liver biopsy shows cytoplasmic accumulation of storage material in vacuoles (summary by Enns et al., 2014). For a discussion of the classification of congenital disorders of glycosylation, see CDG1A (212065). (615273)

UniProtKB/Swiss-Prot : 73 Congenital disorder of deglycosylation: A multisystem disorder characterized by developmental delay, hypotonia, abnormal involuntary movements and alacrima or poor tear production. Other features include microcephaly, intractable seizures, abnormal eye movements and evidence of liver dysfunction, probably due to cytoplasmic accumulation of storage material in vacuoles.

Related Diseases for Congenital Disorder of Deglycosylation

Diseases in the Congenital Disorder of Deglycosylation family:

Ngly1-Related Congenital Disorder of Deglycosylation

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

(show all 50)
# Related Disease Score Top Affiliating Genes
1 ngly1-related congenital disorder of deglycosylation 12.6
2 ngly1-congenital disorder of deglycosylation 11.8
3 huntington disease 10.2
4 non-alcoholic fatty liver disease 10.2
5 fatty liver disease 10.2
6 alacrima, achalasia, and mental retardation syndrome 10.1
7 constipation 10.1
8 peripheral nervous system disease 10.1
9 neuropathy 10.1
10 hypotonia 10.1
11 tremor 10.1
12 aspartylglucosaminuria 10.1
13 autosomal recessive disease 10.1
14 lysosomal storage disease 10.1
15 movement disease 10.1
16 congenital disorder of glycosylation, type iif 10.0 SLC35C1 PMM2
17 congenital disorder of glycosylation, type iid 10.0 SLC35C1 PMM2
18 3-methylglutaconic aciduria, type iii 10.0
19 abnormal hair, joint laxity, and developmental delay 10.0
20 ataxia and polyneuropathy, adult-onset 10.0
21 cone dystrophy 10.0
22 cervical dystonia 10.0
23 sleep apnea 10.0
24 scoliosis 10.0
25 rickets 10.0
26 microcephaly 10.0
27 dystonia 10.0
28 fundus dystrophy 10.0
29 measles 10.0
30 rubella 10.0
31 central sleep apnea 10.0
32 pathologic nystagmus 10.0
33 congenital disorders of n-linked glycosylation and multiple pathway 10.0
34 hypermobile ehlers-danlos syndrome 10.0
35 auditory neuropathy spectrum disorder 10.0
36 seizure disorder 10.0
37 inherited retinal disorder 10.0
38 congenital disorder of glycosylation, type iib 10.0 SLC35C1 PMM2
39 congenital disorder of glycosylation, type iia 9.9 SLC35C1 PMM2
40 congenital disorder of glycosylation, type iig 9.8 DPM3 ALG11
41 cohen syndrome 9.7 SLC35C1 ALG14
42 congenital disorder of glycosylation, type iik 9.7 SLC35C1 PMM2 ALG11
43 congenital disorder of glycosylation, type ie 9.6 PMM2 DPM3 ALG11
44 congenital muscular dystrophy-dystroglycanopathy type a 9.5 DPM3 DPM2
45 fructose intolerance, hereditary 9.5 SLC35C1 DPM3 ALG14
46 muscular dystrophy-dystroglycanopathy , type a, 4 9.3 DPM3 DPM2
47 glaucoma 3, primary congenital, a 9.2 DPM3 DPM2
48 walker-warburg syndrome 8.6 PMM2 DPM3 DPM2 ALG14 ALG11
49 immunodeficiency 47 8.3 SLC35C1 PMM2 DPM3 DPM2 ALG14 ALG11
50 congenital disorder of glycosylation, type in 8.1 SLC35C1 PMM2 NGLY1 DPM3 DPM2 ALG14

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



Diseases related to Congenital Disorder of Deglycosylation

Symptoms & Phenotypes for Congenital Disorder of Deglycosylation

Human phenotypes related to Congenital Disorder of Deglycosylation:

58 31 (show top 50) (show all 134)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cerebral atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0002059
2 sensorimotor neuropathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0007141
3 hyperkinetic movements 58 31 very rare (1%) Very frequent (99-80%) HP:0002487
4 global developmental delay 58 31 very rare (1%) Frequent (79-30%) HP:0001263
5 developmental regression 58 31 frequent (33%) Frequent (79-30%) HP:0002376
6 eeg abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0002353
7 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
8 absent speech 58 31 frequent (33%) Frequent (79-30%) HP:0001344
9 elevated hepatic transaminase 58 31 very rare (1%) Frequent (79-30%) HP:0002910
10 decreased ldl cholesterol concentration 58 31 frequent (33%) Frequent (79-30%) HP:0003563
11 hypotriglyceridemia 58 31 frequent (33%) Frequent (79-30%) HP:0012153
12 cerebellar atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0001272
13 intellectual disability, profound 58 31 frequent (33%) Frequent (79-30%) HP:0002187
14 increased susceptibility to fractures 58 31 frequent (33%) Frequent (79-30%) HP:0002659
15 small for gestational age 58 31 frequent (33%) Frequent (79-30%) HP:0001518
16 obstructive sleep apnea 58 31 frequent (33%) Frequent (79-30%) HP:0002870
17 inability to walk 58 31 frequent (33%) Frequent (79-30%) HP:0002540
18 poor speech 58 31 frequent (33%) Frequent (79-30%) HP:0002465
19 decreased lacrimation 58 31 frequent (33%) Frequent (79-30%) HP:0000633
20 chronic constipation 58 31 frequent (33%) Frequent (79-30%) HP:0012450
21 decreased csf homovanillic acid 58 31 frequent (33%) Frequent (79-30%) HP:0003785
22 decreased csf 5-hydroxyindolacetic acid 58 31 frequent (33%) Frequent (79-30%) HP:0025455
23 decreased csf protein 58 31 frequent (33%) Frequent (79-30%) HP:0025457
24 decreased csf biopterin level 58 31 frequent (33%) Frequent (79-30%) HP:0040209
25 generalized myoclonic seizure 31 frequent (33%) HP:0002123
26 decreased csf albumin concentration 31 frequent (33%) HP:0025458
27 splenomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001744
28 hepatomegaly 58 31 very rare (1%) Occasional (29-5%) HP:0002240
29 delayed skeletal maturation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002750
30 hip dysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001385
31 scoliosis 58 31 very rare (1%) Occasional (29-5%) HP:0002650
32 recurrent respiratory infections 58 31 very rare (1%) Occasional (29-5%) HP:0002205
33 myoclonus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001336
34 reduced bone mineral density 58 31 occasional (7.5%) Occasional (29-5%) HP:0004349
35 achilles tendon contracture 58 31 occasional (7.5%) Occasional (29-5%) HP:0001771
36 congenital hip dislocation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001374
37 joint hypermobility 58 31 occasional (7.5%) Occasional (29-5%) HP:0001382
38 ventriculomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002119
39 chorea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002072
40 hyporeflexia 58 31 very rare (1%) Occasional (29-5%) HP:0001265
41 coxa valga 58 31 occasional (7.5%) Occasional (29-5%) HP:0002673
42 infantile spasms 58 31 occasional (7.5%) Occasional (29-5%) HP:0012469
43 poor head control 58 31 occasional (7.5%) Occasional (29-5%) HP:0002421
44 shoulder dislocation 58 31 occasional (7.5%) Occasional (29-5%) HP:0003834
45 postnatal microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0005484
46 oculomotor apraxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000657
47 athetosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002305
48 corneal scarring 58 31 occasional (7.5%) Occasional (29-5%) HP:0000559
49 acromesomelia 58 31 occasional (7.5%) Occasional (29-5%) HP:0003086
50 impaired oropharyngeal swallow response 58 31 very rare (1%) Occasional (29-5%) HP:0031162

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
global developmental delay
involuntary movements
hypotonia
myoclonic jerks
regression of motor development
more
Head And Neck Eyes:
strabismus
corneal ulceration
alacrima
congenital absence of tears
ocular apraxia (in some patients)

Head And Neck Head:
microcephaly (in some patients)

Abdomen Liver:
abnormal liver function
inflammatory liver changes
amorphous substance in the cytoplasm

Laboratory Abnormalities:
increased blood lactate (in some patients)
elevated alpha-fetoprotein (in some patients)

Neurologic Peripheral Nervous System:
peripheral neuropathy
hyporeflexia

Skeletal Hands:
small hands

Skeletal Feet:
small feet

Metabolic Features:
abnormal urine oligosaccharides (keratan sulfate, heparan sulfate, and chondroitin sulfate)
normal transferrin isoelectric focusing test
normal n-glycan analysis

Clinical features from OMIM:

615273

UMLS symptoms related to Congenital Disorder of Deglycosylation:


involuntary movements

MGI Mouse Phenotypes related to Congenital Disorder of Deglycosylation:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.36 ALG11 ALG14 DDI2 DPM2 DPM3 FAF1

Drugs & Therapeutics for Congenital Disorder of Deglycosylation

Drugs for Congenital Disorder of Deglycosylation (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Serine Investigational, Nutraceutical Phase 2 56-45-1 5951

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Effect of an NMDA-based Intervention on Biomarker Measures of Cognitive Dysfunction in Schizophrenia Completed NCT00817336 Phase 2 D Serine;Placebo
2 NGLY1 Deficiency: A Prospective Natural History Study Active, not recruiting NCT03834987

Search NIH Clinical Center for Congenital Disorder of Deglycosylation

Genetic Tests for Congenital Disorder of Deglycosylation

Genetic tests related to Congenital Disorder of Deglycosylation:

# Genetic test Affiliating Genes
1 Congenital Disorder of Deglycosylation 29 NGLY1

Anatomical Context for Congenital Disorder of Deglycosylation

MalaCards organs/tissues related to Congenital Disorder of Deglycosylation:

40
Liver, Eye, Brain, Bone, Skin, Testes

Publications for Congenital Disorder of Deglycosylation

Articles related to Congenital Disorder of Deglycosylation:

(show all 27)
# Title Authors PMID Year
1
Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation. 61 56 6
27388694 2017
2
Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway. 56 6
24651605 2014
3
Clinical application of exome sequencing in undiagnosed genetic conditions. 6 56
22581936 2012
4
Aspartylglycosamine is a biomarker for NGLY1-CDDG, a congenital disorder of deglycosylation. 61 56
31311714 2019
5
NGLY1-Related Congenital Disorder of Deglycosylation 61 6
29419975 2018
6
Understanding human glycosylation disorders: biochemistry leads the charge. 56
23329837 2013
7
Acute liver failure in a male patient with NGLY1-congenital disorder of deglycosylation. 61
32422350 2020
8
Two novel compound heterozygous mutations in NGLY1as a cause of congenital disorder of deglycosylation: a case presentation. 61
32576142 2020
9
NGLY1 deficiency-A rare congenital disorder of deglycosylation. 61
32395402 2020
10
Accuracy of diagnostic classification and clinical utility assessment of ICD-11 compared to ICD-10 in 10 mental disorders: findings from a web-based field study. 61
31654119 2020
11
Novel NGLY1 gene variants in Chinese children with global developmental delay, microcephaly, hypotonia, hypertransaminasemia, alacrimia, and feeding difficulty. 61
31965062 2020
12
Liver involvement in NGLY1 congenital disorder of deglycosylation. 61
32429657 2020
13
NGLY1 deficiency: Novel patient, review of the literature and diagnostic algorithm. 61
32071843 2020
14
Transiently elevated plasma methionine, S-adenosylmethionine and S-adenosylhomocysteine: Unreported laboratory findings in a patient with NGLY1 deficiency, a congenital disorder of deglycosylation. 61
31497478 2019
15
Innovations and changes in the ICD-11 classification of mental, behavioural and neurodevelopmental disorders. 61
30600616 2019
16
Urine oligosaccharide screening by MALDI-TOF for the identification of NGLY1 deficiency. 61
29550355 2018
17
[Web-based field studies on diagnostic classification and code assignment of mental disorders: comparison of ICD-11 and ICD-10]. 61
29621822 2018
18
A congenital disorder of deglycosylation: Biochemical characterization of N-glycanase 1 deficiency in patient fibroblasts. 61
25900930 2015
19
Using cassava distiller's dried grains as carbon and microbe sources to enhance denitrification of nitrate-contaminated groundwater. 61
25343978 2015
20
The development of the ICD-11 Clinical Descriptions and Diagnostic Guidelines for Mental and Behavioural Disorders. 61
25655162 2015
21
Step enzymatic hydrolysis of sodium hydroxide-pretreated Chinese liquor distillers' grains for ethanol production. 61
24397718 2014
22
Comparison of ICD-10 diagnostic guidelines and research criteria for enduring personality change after catastrophic experience. 61
19246954 2009
23
Clinicians' understanding of International Statistical Classification of Diseases and Related Health Problems, 10th Revision diagnostic criteria: F62.0 enduring personality change after catastrophic experience. 61
18970908 2008
24
Impact of beef cattle diets containing corn or sorghum distillers grains on beef color, fatty acid profiles, and sensory attributes. 61
18192556 2008
25
Diagnostic classification of organic psychiatric disorders after aneurysmal subarachnoid hemorrhage: a comparison between ICD-10, DSM-IV and the Lindqvist & Malmgren classification system. 61
12890278 2003
26
Progress of ICD-10 (F) family in Japan: research, field trials and publications. 61
9895188 1998
27
ICD-10 harmful use of alcohol and the alcohol dependence syndrome: prevalence and implications. 61
8461858 1993

Variations for Congenital Disorder of Deglycosylation

ClinVar genetic disease variations for Congenital Disorder of Deglycosylation:

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# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NGLY1 NM_018297.4(NGLY1):c.1405C>T (p.Arg469Ter)SNV Pathogenic 488990 rs768131676 3:25773830-25773830 3:25732339-25732339
2 NGLY1 NM_018297.4(NGLY1):c.857_873del (p.Cys286fs)deletion Pathogenic 541255 rs1375323331 3:25781076-25781092 3:25739585-25739601
3 NGLY1 NM_018297.4(NGLY1):c.1264C>T (p.Gln422Ter)SNV Pathogenic 807449 3:25773971-25773971 3:25732480-25732480
4 NGLY1 NM_018297.4(NGLY1):c.1533_1536del (p.Asn511fs)deletion Pathogenic 548658 rs765211108 3:25770699-25770702 3:25729208-25729211
5 NGLY1 NC_000003.12:g.(?_25751078)_(25751283_?)deldeletion Pathogenic 647459 3:25792569-25792774 3:25751078-25751283
6 NGLY1 NM_018297.4(NGLY1):c.726dup (p.His243fs)duplication Pathogenic 843508 3:25781222-25781223 3:25739731-25739732
7 NGLY1 NM_018297.4(NGLY1):c.1201A>T (p.Arg401Ter)SNV Pathogenic 50962 rs201337954 3:25775422-25775422 3:25733931-25733931
8 NGLY1 NM_018297.4(NGLY1):c.1370dup (p.Arg458fs)duplication Pathogenic 126422 rs587777265 3:25773864-25773865 3:25732373-25732374
9 NGLY1 NM_018297.4(NGLY1):c.1202_1204GAA[1] (p.Arg402del)short repeat Pathogenic 126423 rs587777266 3:25775416-25775418 3:25733925-25733927
10 NGLY1 NM_018297.4(NGLY1):c.1624C>T (p.Arg542Ter)SNV Pathogenic 126424 rs528583612 3:25761670-25761670 3:25720179-25720179
11 NGLY1 NM_018297.4(NGLY1):c.930C>T (p.Gly310=)SNV Pathogenic 221583 rs745814294 3:25778898-25778898 3:25737407-25737407
12 NGLY1 NM_018297.4(NGLY1):c.881+5G>TSNV Pathogenic 221584 rs1135401731 3:25781063-25781063 3:25739572-25739572
13 NGLY1 NM_018297.4(NGLY1):c.730T>C (p.Trp244Arg)SNV Pathogenic 221581 rs1135401729 3:25781219-25781219 3:25739728-25739728
14 NGLY1 NM_018297.4(NGLY1):c.622C>T (p.Gln208Ter)SNV Pathogenic 221578 rs200561967 3:25792625-25792625 3:25751134-25751134
15 NGLY1 NM_018297.4(NGLY1):c.347C>G (p.Ser116Ter)SNV Pathogenic 221579 rs907852687 3:25805702-25805702 3:25764211-25764211
16 NGLY1 NM_018297.4(NGLY1):c.1604G>A (p.Trp535Ter)SNV Pathogenic 221577 rs767388144 3:25770631-25770631 3:25729140-25729140
17 NGLY1 NM_018297.4(NGLY1):c.1169G>C (p.Arg390Pro)SNV Pathogenic 221580 rs1135401728 3:25775454-25775454 3:25733963-25733963
18 NGLY1 NM_018297.4(NGLY1):c.931G>A (p.Glu311Lys)SNV Pathogenic/Likely pathogenic 221576 rs201791209 3:25778897-25778897 3:25737406-25737406
19 NGLY1 NM_018297.4(NGLY1):c.1891del (p.Gln631fs)deletion Pathogenic/Likely pathogenic 50961 rs587776982 3:25761025-25761025 3:25719534-25719534
20 NGLY1 NM_018297.4(NGLY1):c.1150-1G>CSNV Pathogenic/Likely pathogenic 372852 rs532007026 3:25775474-25775474 3:25733983-25733983
21 NGLY1 NM_018297.4(NGLY1):c.1231C>T (p.Arg411Ter)SNV Pathogenic/Likely pathogenic 647531 3:25775392-25775392 3:25733901-25733901
22 NGLY1 NM_018297.4(NGLY1):c.871C>T (p.Arg291Ter)SNV Pathogenic/Likely pathogenic 474235 rs772994617 3:25781078-25781078 3:25739587-25739587
23 NGLY1 NM_018297.4(NGLY1):c.1294G>T (p.Glu432Ter)SNV Likely pathogenic 804434 3:25773941-25773941 3:25732450-25732450
24 NGLY1 NM_018297.4(NGLY1):c.1910del (p.Ser636_Leu637insTer)deletion Likely pathogenic 221582 rs1135401730 3:25761006-25761006 3:25719515-25719515
25 NGLY1 NM_018297.4(NGLY1):c.247-1G>ASNV Likely pathogenic 642606 3:25805803-25805803 3:25764312-25764312
26 NGLY1 NM_018297.4(NGLY1):c.1481_1488del (p.His494fs)deletion Likely pathogenic 666353 3:25770747-25770754 3:25729256-25729263
27 NGLY1 NM_018297.4(NGLY1):c.1025A>G (p.Tyr342Cys)SNV Likely pathogenic 807450 3:25777619-25777619 3:25736128-25736128
28 NGLY1 NM_018297.4(NGLY1):c.1169G>A (p.Arg390Gln)SNV Likely pathogenic 827607 3:25775454-25775454 3:25733963-25733963
29 NGLY1 NM_018297.4(NGLY1):c.869A>G (p.Asn290Ser)SNV Conflicting interpretations of pathogenicity 218753 rs370175393 3:25781080-25781080 3:25739589-25739589
30 NGLY1 NM_018297.4(NGLY1):c.492+6G>ASNV Conflicting interpretations of pathogenicity 507010 rs200608265 3:25805551-25805551 3:25764060-25764060
31 NGLY1 NM_018297.4(NGLY1):c.1415T>C (p.Met472Thr)SNV Uncertain significance 541261 rs1553652803 3:25773820-25773820 3:25732329-25732329
32 NGLY1 NM_018297.4(NGLY1):c.431G>A (p.Gly144Glu)SNV Uncertain significance 474224 rs1553660431 3:25805618-25805618 3:25764127-25764127
33 NGLY1 NM_018297.4(NGLY1):c.897G>T (p.Glu299Asp)SNV Uncertain significance 541264 rs201068823 3:25778931-25778931 3:25737440-25737440
34 NGLY1 NM_018297.4(NGLY1):c.717A>C (p.Glu239Asp)SNV Uncertain significance 474232 rs754083716 3:25781232-25781232 3:25739741-25739741
35 NGLY1 NM_018297.4(NGLY1):c.629A>C (p.Lys210Thr)SNV Uncertain significance 474229 rs1553657104 3:25792618-25792618 3:25751127-25751127
36 NGLY1 NM_018297.4(NGLY1):c.1469C>T (p.Ser490Phe)SNV Uncertain significance 474211 rs144262689 3:25770766-25770766 3:25729275-25729275
37 NGLY1 NM_018297.4(NGLY1):c.872G>A (p.Arg291Gln)SNV Uncertain significance 474236 rs769627493 3:25781077-25781077 3:25739586-25739586
38 NGLY1 NM_018297.4(NGLY1):c.1913A>G (p.Asn638Ser)SNV Uncertain significance 474220 rs1553649841 3:25761003-25761003 3:25719512-25719512
39 NGLY1 NM_018297.4(NGLY1):c.815A>C (p.Lys272Thr)SNV Uncertain significance 474234 rs1553654532 3:25781134-25781134 3:25739643-25739643
40 NGLY1 NM_018297.4(NGLY1):c.728A>C (p.His243Pro)SNV Uncertain significance 474233 rs1553654596 3:25781221-25781221 3:25739730-25739730
41 NGLY1 NM_018297.4(NGLY1):c.646A>G (p.Lys216Glu)SNV Uncertain significance 474231 rs148972130 3:25792601-25792601 3:25751110-25751110
42 NGLY1 NM_018297.4(NGLY1):c.596C>T (p.Pro199Leu)SNV Uncertain significance 417960 rs760530009 3:25792651-25792651 3:25751160-25751160
43 NGLY1 NM_018297.4(NGLY1):c.1300C>G (p.Leu434Val)SNV Uncertain significance 474209 rs761035118 3:25773935-25773935 3:25732444-25732444
44 NGLY1 NM_018297.4(NGLY1):c.1918C>T (p.His640Tyr)SNV Uncertain significance 474221 rs529998714 3:25760998-25760998 3:25719507-25719507
45 NGLY1 NM_018297.4(NGLY1):c.1889C>A (p.Thr630Asn)SNV Uncertain significance 474219 rs891240035 3:25761027-25761027 3:25719536-25719536
46 NGLY1 NM_018297.4(NGLY1):c.1808A>G (p.Tyr603Cys)SNV Uncertain significance 474217 rs777069327 3:25761108-25761108 3:25719617-25719617
47 NGLY1 NM_018297.4(NGLY1):c.1228C>T (p.Leu410Phe)SNV Uncertain significance 647628 3:25775395-25775395 3:25733904-25733904
48 NGLY1 NM_018297.4(NGLY1):c.967G>A (p.Val323Ile)SNV Uncertain significance 640855 3:25778861-25778861 3:25737370-25737370
49 NGLY1 NM_018297.4(NGLY1):c.800G>T (p.Ser267Ile)SNV Uncertain significance 644859 3:25781149-25781149 3:25739658-25739658
50 NGLY1 NM_018297.4(NGLY1):c.491C>T (p.Thr164Met)SNV Uncertain significance 665756 3:25805558-25805558 3:25764067-25764067

Expression for Congenital Disorder of Deglycosylation

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

Pathways for Congenital Disorder of Deglycosylation

Pathways related to Congenital Disorder of Deglycosylation according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.28 SLC35C1 PMM2 NGLY1 GMPPA FBXO6 ENGASE
2
Show member pathways
12.5 SLC35C1 PMM2 NGLY1 GMPPA ENGASE DPM3
3
Show member pathways
11.56 DPM3 DPM2 ALG14 ALG11
4
Show member pathways
11.46 SLC35C1 PMM2 GMPPA DPM3 DPM2 ALG14
5
Show member pathways
10.99 PMM2 GMPPA

GO Terms for Congenital Disorder of Deglycosylation

Cellular components related to Congenital Disorder of Deglycosylation according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum membrane GO:0005789 9.35 NFE2L1 DPM3 DPM2 ALG14 ALG11
2 dolichol-phosphate-mannose synthase complex GO:0033185 8.62 DPM3 DPM2

Biological processes related to Congenital Disorder of Deglycosylation according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein glycosylation GO:0006486 9.5 PMM2 DPM3 DPM2
2 protein N-linked glycosylation GO:0006487 9.43 PMM2 ALG11
3 GPI anchor biosynthetic process GO:0006506 9.4 DPM3 DPM2
4 protein N-linked glycosylation via asparagine GO:0018279 9.37 DPM3 DPM2
5 protein O-linked mannosylation GO:0035269 9.26 DPM3 DPM2
6 glycoprotein catabolic process GO:0006516 9.16 NGLY1 FBXO6
7 protein deglycosylation GO:0006517 8.96 NGLY1 ENGASE
8 regulation of protein stability GO:0031647 8.8 DPM3 DPM2 DDI2

Molecular functions related to Congenital Disorder of Deglycosylation according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 enzyme activator activity GO:0008047 8.96 DPM3 DPM2
2 dolichyl-phosphate beta-D-mannosyltransferase activity GO:0004582 8.62 DPM3 DPM2

Sources for 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
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43 MeSH
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45 MGI
48 NCI
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50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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