CDDG
MCID: CNG436
MIFTS: 47

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 57 12 74 29 6 72
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome 53 59
Congenital Disorder of Glycosylation Type Iv 12 74
Deficiency of N-Glycanase 1 12 53
Ngly1-Deficiency 12 15
Ngly1 Deficiency 53 59
Ngly1-Cddg 12 59
Cddg 57 74
Congenital Disorder of Glycosylation, Type Iv, Formerly; Cdg1v, Formerly 57
Congenital Disorder of Glycosylation, Type Iv, Formerly 57
Congenital Disorder of Glycosylation Type Iv; Cdg1v 53
Congenital Disorder of Deglycosylation;cddg 53
Congenital Disorder of Glycosylation 1v 74
Deglycosylation, Congenital Disorder of 40
Cdg1v, Formerly 57
Cdg1v 74
Cdgiv 74

Characteristics:

Orphanet epidemiological data:

59
alacrimia-choreoathetosis-liver dysfunction syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy


HPO:

32
congenital disorder of deglycosylation:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0060728
OMIM 57 615273
MeSH 44 D002239
ICD10 33 E77.8
Orphanet 59 ORPHA404454
UMLS 72 C3808991

Summaries for Congenital Disorder of Deglycosylation

NIH Rare Diseases : 53 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 is Calnexin/calreticulin cycle. The drug Serine has been mentioned in the context of this disorder. Affiliated tissues include liver, eye and brain, and related phenotypes are scoliosis and global developmental delay

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 : 57 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 : 74 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 related to Congenital Disorder of Deglycosylation via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 86)
# Related Disease Score Top Affiliating Genes
1 ngly1-related congenital disorder of deglycosylation 12.6
2 ngly1-congenital disorder of deglycosylation 11.7
3 huntington disease 10.2
4 non-alcoholic fatty liver disease 10.2
5 fatty liver disease 10.2
6 peripheral nervous system disease 10.1
7 neuropathy 10.1
8 fungal esophagitis 10.1 ATP4A ATP12A
9 gastroduodenal crohn's disease 10.1 ATP4A ATP12A
10 diclofenac allergy 10.1 ATP4A ATP12A
11 neonatal candidiasis 10.1 ATP4A ATP12A
12 squamous papillomatosis 10.1 ATP4A ATP12A
13 photoallergic dermatitis 10.1 ATP4A ATP12A
14 gastrointestinal neuroendocrine benign tumor 10.1 ATP4A ATP12A
15 aspiration pneumonitis 10.1 ATP4A ATP12A
16 toxic megacolon 10.1 ATP4A ATP12A
17 granulomatous gastritis 10.1 ATP4A ATP12A
18 gastric antral vascular ectasia 10.1 ATP4A ATP12A
19 acute laryngitis 10.1 ATP4A ATP12A
20 aspartylglucosaminuria 10.1
21 autosomal recessive disease 10.1
22 movement disease 10.1
23 laryngitis 10.1 ATP4A ATP12A
24 gastric neuroendocrine neoplasm 10.1 ATP4A ATP12A
25 esophageal candidiasis 10.1 ATP4A ATP12A
26 duodenitis 10.1 ATP4A ATP12A
27 active peptic ulcer disease 10.1 ATP4A ATP12A
28 rumination disorder 10.1 ATP4A ATP12A
29 dyskinesia of esophagus 10.1 ATP4A ATP12A
30 peptic esophagitis 10.1 ATP4A ATP12A
31 capillary disease 10.1 ATP4A ATP12A
32 bile reflux 10.1 ATP4A ATP12A
33 ischemic neuropathy 10.1 ATP4A ATP12A
34 bladder calculus 10.1 ATP4A ATP12A
35 anismus 10.1 ATP4A ATP12A
36 hernia, hiatus 10.1 ATP4A ATP12A
37 postsurgical hypothyroidism 10.0 ATP4A ATP12A
38 esophageal atresia/tracheoesophageal fistula 10.0 ATP4A ATP12A
39 lymphocytic colitis 10.0 ATP4A ATP12A
40 clostridium difficile colitis 10.0 ATP4A ATP12A
41 esophagitis, eosinophilic, 1 10.0 ATP4A ATP12A
42 diarrhea 1, secretory chloride, congenital 10.0 ATP4A ATP12A
43 laryngeal tuberculosis 10.0 ATP4A ATP12A
44 microscopic colitis 10.0 ATP4A ATP12A
45 chronic intestinal vascular insufficiency 10.0 ATP4A ATP12A
46 esophagus adenocarcinoma 10.0 ATP4A ATP12A
47 eosinophilic gastritis 10.0 ATP4A ATP12A
48 chronic laryngitis 10.0 ATP4A ATP12A
49 superior mesenteric artery syndrome 10.0 ATP4A ATP12A
50 esophageal varix 10.0 ATP4A ATP12A

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:

59 32 (show top 50) (show all 129)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 59 32 very rare (1%) Occasional (29-5%) HP:0002650
2 global developmental delay 59 32 very rare (1%) Frequent (79-30%) HP:0001263
3 recurrent respiratory infections 59 32 very rare (1%) Occasional (29-5%) HP:0002205
4 hepatomegaly 59 32 very rare (1%) Occasional (29-5%) HP:0002240
5 elevated hepatic transaminase 59 32 very rare (1%) Frequent (79-30%) HP:0002910
6 hyporeflexia 59 32 very rare (1%) Occasional (29-5%) HP:0001265
7 hyperkinesis 59 32 very rare (1%) Very frequent (99-80%) HP:0002487
8 delayed myelination 59 32 very rare (1%) Occasional (29-5%) HP:0012448
9 impaired oropharyngeal swallow response 59 32 very rare (1%) Occasional (29-5%) HP:0031162
10 facial hypotonia 59 32 very rare (1%) Occasional (29-5%) HP:0000297
11 suck reflex 59 32 very rare (1%) Occasional (29-5%) HP:0030906
12 impaired oral bolus formation 59 32 very rare (1%) Occasional (29-5%) HP:0031146
13 hypertelorism 32 very rare (1%) HP:0000316
14 ptosis 32 very rare (1%) HP:0000508
15 hyperhidrosis 32 very rare (1%) HP:0000975
16 seizures 32 very rare (1%) HP:0001250
17 corneal opacity 32 very rare (1%) HP:0007957
18 microcephaly 32 very rare (1%) HP:0000252
19 osteoporosis 32 very rare (1%) HP:0000939
20 strabismus 32 very rare (1%) HP:0000486
21 respiratory distress 32 very rare (1%) HP:0002098
22 short foot 32 very rare (1%) HP:0001773
23 increased serum lactate 32 very rare (1%) HP:0002151
24 elevated alpha-fetoprotein 32 very rare (1%) HP:0006254
25 anhidrosis 32 very rare (1%) HP:0000970
26 restlessness 32 very rare (1%) HP:0000711
27 single transverse palmar crease 32 very rare (1%) HP:0000954
28 intrinsic hand muscle atrophy 32 very rare (1%) HP:0008954
29 oral-pharyngeal dysphagia 32 very rare (1%) HP:0200136
30 pain insensitivity 32 very rare (1%) HP:0007021
31 central sleep apnea 32 very rare (1%) HP:0010536
32 decreased sensory nerve conduction velocity 32 very rare (1%) HP:0003448
33 elevated brain choline level by mrs 32 very rare (1%) HP:0012706
34 reduced brain n-acetyl aspartate level by mrs 32 very rare (1%) HP:0012708
35 high myoinositol in brain by mrs 32 very rare (1%) HP:0025460
36 decreased csf/serum albumin ratio 32 very rare (1%) HP:0030978
37 reduced brain glutamine level by mrs 32 very rare (1%) HP:0030980
38 chorea 59 32 Occasional (29-5%) HP:0002072
39 myoclonus 59 32 Occasional (29-5%) HP:0001336
40 action tremor 59 32 Occasional (29-5%) HP:0002345
41 athetosis 59 32 Occasional (29-5%) HP:0002305
42 decreased csf 5-hydroxyindolacetic acid 59 32 Frequent (79-30%) HP:0025455
43 intellectual disability 59 Frequent (79-30%)
44 failure to thrive 59 Frequent (79-30%)
45 eeg abnormality 59 Frequent (79-30%)
46 developmental regression 59 Frequent (79-30%)
47 hip dysplasia 59 Occasional (29-5%)
48 splenomegaly 59 Occasional (29-5%)
49 delayed skeletal maturation 59 Occasional (29-5%)
50 anteverted nares 32 HP:0000463

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
global developmental delay
involuntary movements
hypotonia
myoclonic jerks
regression of motor development
more
Head And Neck Eyes:
strabismus
alacrima
corneal ulceration
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

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 Approved, 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 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:

41
Liver, Eye, Brain, Skin, Testes, Bone

Publications for Congenital Disorder of Deglycosylation

Articles related to Congenital Disorder of Deglycosylation:

(show all 19)
# Title Authors PMID Year
1
Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation. 38 8 71
27388694 2017
2
Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway. 8 71
24651605 2014
3
Clinical application of exome sequencing in undiagnosed genetic conditions. 8 71
22581936 2012
4
NGLY1-Related Congenital Disorder of Deglycosylation 38 71
29419975 2018
5
Understanding human glycosylation disorders: biochemistry leads the charge. 8
23329837 2013
6
Aspartylglycosamine is a biomarker for NGLY1-CDDG, a congenital disorder of deglycosylation. 38
31311714 2019
7
Innovations and changes in the ICD-11 classification of mental, behavioural and neurodevelopmental disorders. 38
30600616 2019
8
Urine oligosaccharide screening by MALDI-TOF for the identification of NGLY1 deficiency. 38
29550355 2018
9
[Web-based field studies on diagnostic classification and code assignment of mental disorders: comparison of ICD-11 and ICD-10]. 38
29621822 2018
10
A congenital disorder of deglycosylation: Biochemical characterization of N-glycanase 1 deficiency in patient fibroblasts. 38
25900930 2015
11
Using cassava distiller's dried grains as carbon and microbe sources to enhance denitrification of nitrate-contaminated groundwater. 38
25343978 2015
12
The development of the ICD-11 Clinical Descriptions and Diagnostic Guidelines for Mental and Behavioural Disorders. 38
25655162 2015
13
Step enzymatic hydrolysis of sodium hydroxide-pretreated Chinese liquor distillers' grains for ethanol production. 38
24397718 2014
14
Comparison of ICD-10 diagnostic guidelines and research criteria for enduring personality change after catastrophic experience. 38
19246954 2009
15
Clinicians' understanding of International Statistical Classification of Diseases and Related Health Problems, 10th Revision diagnostic criteria: F62.0 enduring personality change after catastrophic experience. 38
18970908 2008
16
Impact of beef cattle diets containing corn or sorghum distillers grains on beef color, fatty acid profiles, and sensory attributes. 38
18192556 2008
17
Diagnostic classification of organic psychiatric disorders after aneurysmal subarachnoid hemorrhage: a comparison between ICD-10, DSM-IV and the Lindqvist & Malmgren classification system. 38
12890278 2003
18
Progress of ICD-10 (F) family in Japan: research, field trials and publications. 38
9895188 1998
19
ICD-10 harmful use of alcohol and the alcohol dependence syndrome: prevalence and implications. 38
8461858 1993

Variations for Congenital Disorder of Deglycosylation

ClinVar genetic disease variations for Congenital Disorder of Deglycosylation:

6 (show top 50) (show all 97)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 NGLY1 NM_001145294.1(NGLY1): c.745C> T (p.Arg249Ter) single nucleotide variant Pathogenic rs772994617 3:25781078-25781078 3:25739587-25739587
2 NGLY1 NM_001145294.1(NGLY1): c.1279C> T (p.Arg427Ter) single nucleotide variant Pathogenic rs768131676 3:25773830-25773830 3:25732339-25732339
3 NGLY1 NM_001145294.1(NGLY1): c.1075A> T (p.Arg359Ter) single nucleotide variant Pathogenic rs201337954 3:25775422-25775422 3:25733931-25733931
4 NGLY1 NM_001145294.1(NGLY1): c.1244dup (p.Arg416fs) duplication Pathogenic rs587777265 3:25773865-25773865 3:25732374-25732374
5 NGLY1 NM_001145294.1(NGLY1): c.1076_1078GAA[1] (p.Arg360del) short repeat Pathogenic rs587777266 3:25775416-25775418 3:25733925-25733927
6 NGLY1 NM_001145294.1(NGLY1): c.1498C> T (p.Arg500Ter) single nucleotide variant Pathogenic rs528583612 3:25761670-25761670 3:25720179-25720179
7 NGLY1 NM_001145294.1(NGLY1): c.1784del (p.Ser594_Leu595insTer) deletion Pathogenic rs1135401730 3:25761006-25761006 3:25719515-25719515
8 NGLY1 NM_001145294.1(NGLY1): c.1478G> A (p.Trp493Ter) single nucleotide variant Pathogenic rs767388144 3:25770631-25770631 3:25729140-25729140
9 NGLY1 NM_001145294.1(NGLY1): c.1043G> C (p.Arg348Pro) single nucleotide variant Pathogenic rs1135401728 3:25775454-25775454 3:25733963-25733963
10 NGLY1 NM_001145294.1(NGLY1): c.805G> A (p.Glu269Lys) single nucleotide variant Pathogenic rs201791209 3:25778897-25778897 3:25737406-25737406
11 NGLY1 NM_001145294.1(NGLY1): c.804C> T (p.Gly268=) single nucleotide variant Pathogenic rs745814294 3:25778898-25778898 3:25737407-25737407
12 NGLY1 NM_001145294.1(NGLY1): c.755+5G> T single nucleotide variant Pathogenic rs1135401731 3:25781063-25781063 3:25739572-25739572
13 NGLY1 NM_001145294.1(NGLY1): c.604T> C (p.Trp202Arg) single nucleotide variant Pathogenic rs1135401729 3:25781219-25781219 3:25739728-25739728
14 NGLY1 NM_001145294.1(NGLY1): c.496C> T (p.Gln166Ter) single nucleotide variant Pathogenic rs200561967 3:25792625-25792625 3:25751134-25751134
15 NGLY1 NM_001145294.1(NGLY1): c.221C> G (p.Ser74Ter) single nucleotide variant Pathogenic rs907852687 3:25805702-25805702 3:25764211-25764211
16 NGLY1 NM_001145294.1(NGLY1): c.731_747del (p.Cys244fs) deletion Pathogenic rs1375323331 3:25781076-25781092 3:25739585-25739601
17 NGLY1 NM_001145294.1(NGLY1): c.1407_1410del (p.Asn469fs) deletion Pathogenic rs765211108 3:25770699-25770702 3:25729208-25729211
18 NGLY1 NM_001145294.1(NGLY1): c.1105C> T (p.Arg369Ter) single nucleotide variant Pathogenic 3:25775392-25775392 3:25733901-25733901
19 NGLY1 NC_000003.11: g.(?_25792569)_(25792774_?)del deletion Pathogenic 3:25792569-25792774 3:25751078-25751283
20 NGLY1 NM_001145294.1(NGLY1): c.1765del (p.Gln589fs) deletion Pathogenic/Likely pathogenic rs587776982 3:25761025-25761025 3:25719534-25719534
21 NGLY1 NM_001145294.1(NGLY1): c.1024-1G> C single nucleotide variant Pathogenic/Likely pathogenic rs532007026 3:25775474-25775474 3:25733983-25733983
22 NGLY1 NM_001145294.1(NGLY1): c.121-1G> A single nucleotide variant Likely pathogenic 3:25805803-25805803 3:25764312-25764312
23 NGLY1 NM_001145294.1(NGLY1): c.366+6G> A single nucleotide variant Conflicting interpretations of pathogenicity rs200608265 3:25805551-25805551 3:25764060-25764060
24 NGLY1 NM_001145294.1(NGLY1): c.1289T> C (p.Met430Thr) single nucleotide variant Uncertain significance rs1553652803 3:25773820-25773820 3:25732329-25732329
25 NGLY1 NM_001145294.1(NGLY1): c.160G> A (p.Glu54Lys) single nucleotide variant Uncertain significance rs777476251 3:25805763-25805763 3:25764272-25764272
26 NGLY1 NM_001145294.1(NGLY1): c.1645C> G (p.Gln549Glu) single nucleotide variant Uncertain significance rs765145201 3:25761523-25761523 3:25720032-25720032
27 NGLY1 NM_001145294.1(NGLY1): c.1511C> T (p.Ser504Leu) single nucleotide variant Uncertain significance rs1040190748 3:25761657-25761657 3:25720166-25720166
28 NGLY1 NM_001145294.1(NGLY1): c.1787A> G (p.Asn596Ser) single nucleotide variant Uncertain significance rs1553649841 3:25761003-25761003 3:25719512-25719512
29 NGLY1 NM_001145294.1(NGLY1): c.1343C> T (p.Ser448Phe) single nucleotide variant Uncertain significance rs144262689 3:25770766-25770766 3:25729275-25729275
30 NGLY1 NM_001145294.1(NGLY1): c.746G> A (p.Arg249Gln) single nucleotide variant Uncertain significance rs769627493 3:25781077-25781077 3:25739586-25739586
31 NGLY1 NM_001145294.1(NGLY1): c.305G> A (p.Gly102Glu) single nucleotide variant Uncertain significance rs1553660431 3:25805618-25805618 3:25764127-25764127
32 NGLY1 NM_001145294.1(NGLY1): c.470C> T (p.Pro157Leu) single nucleotide variant Uncertain significance rs760530009 3:25792651-25792651 3:25751160-25751160
33 NGLY1 NM_001145294.1(NGLY1): c.1174C> G (p.Leu392Val) single nucleotide variant Uncertain significance rs761035118 3:25773935-25773935 3:25732444-25732444
34 NGLY1 NM_001145294.1(NGLY1): c.591A> C (p.Glu197Asp) single nucleotide variant Uncertain significance rs754083716 3:25781232-25781232 3:25739741-25739741
35 NGLY1 NM_001145294.1(NGLY1): c.503A> C (p.Lys168Thr) single nucleotide variant Uncertain significance rs1553657104 3:25792618-25792618 3:25751127-25751127
36 NGLY1 NM_001145294.1(NGLY1): c.689A> C (p.Lys230Thr) single nucleotide variant Uncertain significance rs1553654532 3:25781134-25781134 3:25739643-25739643
37 NGLY1 NM_001145294.1(NGLY1): c.602A> C (p.His201Pro) single nucleotide variant Uncertain significance rs1553654596 3:25781221-25781221 3:25739730-25739730
38 NGLY1 NM_001145294.1(NGLY1): c.520A> G (p.Lys174Glu) single nucleotide variant Uncertain significance rs148972130 3:25792601-25792601 3:25751110-25751110
39 NGLY1 NM_001145294.1(NGLY1): c.1792C> T (p.His598Tyr) single nucleotide variant Uncertain significance rs529998714 3:25760998-25760998 3:25719507-25719507
40 NGLY1 NM_001145294.1(NGLY1): c.1763C> A (p.Thr588Asn) single nucleotide variant Uncertain significance rs891240035 3:25761027-25761027 3:25719536-25719536
41 NGLY1 NM_001145294.1(NGLY1): c.1682A> G (p.Tyr561Cys) single nucleotide variant Uncertain significance rs777069327 3:25761108-25761108 3:25719617-25719617
42 NGLY1 NM_001145294.1(NGLY1): c.1391G> A (p.Arg464Gln) single nucleotide variant Uncertain significance 3:25770718-25770718 3:25729227-25729227
43 NGLY1 NM_001145294.1(NGLY1): c.1048T> G (p.Ser350Ala) single nucleotide variant Uncertain significance 3:25775449-25775449 3:25733958-25733958
44 NGLY1 NM_001145294.1(NGLY1): c.715C> T (p.His239Tyr) single nucleotide variant Uncertain significance 3:25781108-25781108 3:25739617-25739617
45 NGLY1 NM_001145294.1(NGLY1): c.262G> A (p.Ala88Thr) single nucleotide variant Uncertain significance 3:25805661-25805661 3:25764170-25764170
46 NGLY1 NM_001145294.1(NGLY1): c.1123C> T (p.Leu375Phe) single nucleotide variant Uncertain significance 3:25775374-25775374 3:25733883-25733883
47 NGLY1 NM_001145294.1(NGLY1): c.280A> G (p.Thr94Ala) single nucleotide variant Uncertain significance 3:25805643-25805643 3:25764152-25764152
48 NGLY1 NM_001145294.1(NGLY1): c.6-4650C> T single nucleotide variant Uncertain significance 3:25824829-25824829 3:25783338-25783338
49 NGLY1 NM_001145294.1(NGLY1): c.1669A> G (p.Ser557Gly) single nucleotide variant Uncertain significance 3:25761121-25761121 3:25719630-25719630
50 NGLY1 NM_001145294.1(NGLY1): c.1647A> G (p.Gln549=) single nucleotide variant Uncertain significance 3:25761521-25761521 3:25720030-25720030

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
10.55 NGLY1 ENGASE

GO Terms for Congenital Disorder of Deglycosylation

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

# Name GO ID Score Top Affiliating Genes
1 potassium ion transport GO:0006813 9.43 ATP4A ATP12A
2 potassium ion import across plasma membrane GO:1990573 9.4 ATP4A ATP12A
3 ATP hydrolysis coupled proton transport GO:0015991 9.37 ATP4A ATP12A
4 cellular sodium ion homeostasis GO:0006883 9.32 ATP4A ATP12A
5 establishment or maintenance of transmembrane electrochemical gradient GO:0010248 9.26 ATP4A ATP12A
6 sodium ion export across plasma membrane GO:0036376 9.16 ATP4A ATP12A
7 cellular potassium ion homeostasis GO:0030007 8.96 ATP4A ATP12A
8 protein deglycosylation GO:0006517 8.62 NGLY1 ENGASE

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

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.16 NGLY1 ENGASE
2 sodium:potassium-exchanging ATPase activity GO:0005391 8.96 ATP4A ATP12A
3 potassium:proton exchanging ATPase activity GO:0008900 8.62 ATP4A ATP12A

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 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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