CDDG
MCID: CNG436
MIFTS: 49

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 sensorimotor neuropathy and cerebral atrophy

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

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 131)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensorimotor neuropathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0007141
2 cerebral atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0002059
3 hyperkinetic movements 31 very rare (1%) HP:0002487
4 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
5 eeg abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0002353
6 developmental regression 58 31 frequent (33%) Frequent (79-30%) HP:0002376
7 global developmental delay 58 31 very rare (1%) Frequent (79-30%) HP:0001263
8 generalized myoclonic seizures 58 31 frequent (33%) Frequent (79-30%) HP:0002123
9 absent speech 58 31 frequent (33%) Frequent (79-30%) HP:0001344
10 elevated hepatic transaminase 58 31 very rare (1%) Frequent (79-30%) HP:0002910
11 inability to walk 58 31 frequent (33%) Frequent (79-30%) HP:0002540
12 decreased lacrimation 58 31 frequent (33%) Frequent (79-30%) HP:0000633
13 poor speech 58 31 frequent (33%) Frequent (79-30%) HP:0002465
14 chronic constipation 58 31 frequent (33%) Frequent (79-30%) HP:0012450
15 increased susceptibility to fractures 58 31 frequent (33%) Frequent (79-30%) HP:0002659
16 obstructive sleep apnea 58 31 frequent (33%) Frequent (79-30%) HP:0002870
17 cerebellar atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0001272
18 intellectual disability, profound 58 31 frequent (33%) Frequent (79-30%) HP:0002187
19 small for gestational age 58 31 frequent (33%) Frequent (79-30%) HP:0001518
20 hypotriglyceridemia 58 31 frequent (33%) Frequent (79-30%) HP:0012153
21 decreased ldl cholesterol concentration 58 31 frequent (33%) Frequent (79-30%) HP:0003563
22 decreased csf homovanillic acid 58 31 frequent (33%) Frequent (79-30%) HP:0003785
23 decreased csf 5-hydroxyindolacetic acid 58 31 frequent (33%) Frequent (79-30%) HP:0025455
24 decreased csf protein 58 31 frequent (33%) Frequent (79-30%) HP:0025457
25 decreased csf biopterin level 58 31 frequent (33%) Frequent (79-30%) HP:0040209
26 decreased csf albumin concentration 31 frequent (33%) HP:0025458
27 scoliosis 58 31 very rare (1%) Occasional (29-5%) HP:0002650
28 chorea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002072
29 splenomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001744
30 hepatomegaly 58 31 very rare (1%) Occasional (29-5%) HP:0002240
31 delayed skeletal maturation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002750
32 hip dysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001385
33 recurrent respiratory infections 58 31 very rare (1%) Occasional (29-5%) HP:0002205
34 myoclonus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001336
35 coxa valga 58 31 occasional (7.5%) Occasional (29-5%) HP:0002673
36 reduced bone mineral density 58 31 occasional (7.5%) Occasional (29-5%) HP:0004349
37 achilles tendon contracture 58 31 occasional (7.5%) Occasional (29-5%) HP:0001771
38 ventriculomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002119
39 congenital hip dislocation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001374
40 absence seizure 58 31 occasional (7.5%) Occasional (29-5%) HP:0002121
41 joint hypermobility 58 31 occasional (7.5%) Occasional (29-5%) HP:0001382
42 atonic seizures 58 31 occasional (7.5%) Occasional (29-5%) HP:0010819
43 hyporeflexia 58 31 very rare (1%) Occasional (29-5%) HP:0001265
44 action tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0002345
45 infantile spasms 58 31 occasional (7.5%) Occasional (29-5%) HP:0012469
46 oculomotor apraxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000657
47 poor head control 58 31 occasional (7.5%) Occasional (29-5%) HP:0002421
48 delayed myelination 58 31 very rare (1%) Occasional (29-5%) HP:0012448
49 shoulder dislocation 58 31 occasional (7.5%) Occasional (29-5%) HP:0003834
50 athetosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002305

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
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 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 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 22)
# 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. 56 6
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
Novel NGLY1 gene variants in Chinese children with global developmental delay, microcephaly, hypotonia, hypertransaminasemia, alacrimia, and feeding difficulty. 61
31965062 2020
8
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 2019
9
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
10
Innovations and changes in the ICD-11 classification of mental, behavioural and neurodevelopmental disorders. 61
30600616 2019
11
Urine oligosaccharide screening by MALDI-TOF for the identification of NGLY1 deficiency. 61
29550355 2018
12
[Web-based field studies on diagnostic classification and code assignment of mental disorders: comparison of ICD-11 and ICD-10]. 61
29621822 2018
13
A congenital disorder of deglycosylation: Biochemical characterization of N-glycanase 1 deficiency in patient fibroblasts. 61
25900930 2015
14
Using cassava distiller's dried grains as carbon and microbe sources to enhance denitrification of nitrate-contaminated groundwater. 61
25343978 2015
15
The development of the ICD-11 Clinical Descriptions and Diagnostic Guidelines for Mental and Behavioural Disorders. 61
25655162 2015
16
Step enzymatic hydrolysis of sodium hydroxide-pretreated Chinese liquor distillers' grains for ethanol production. 61
24397718 2014
17
Comparison of ICD-10 diagnostic guidelines and research criteria for enduring personality change after catastrophic experience. 61
19246954 2009
18
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
19
Impact of beef cattle diets containing corn or sorghum distillers grains on beef color, fatty acid profiles, and sensory attributes. 61
18192556 2008
20
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
21
Progress of ICD-10 (F) family in Japan: research, field trials and publications. 61
9895188 1998
22
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:

6 (show top 50) (show all 83) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NGLY1 NM_018297.4(NGLY1):c.1910del (p.Ser636_Leu637insTer)deletion Pathogenic 221582 rs1135401730 3:25761006-25761006 3:25719515-25719515
2 NGLY1 NM_018297.4(NGLY1):c.1604G>A (p.Trp535Ter)SNV Pathogenic 221577 rs767388144 3:25770631-25770631 3:25729140-25729140
3 NGLY1 NM_018297.4(NGLY1):c.1169G>C (p.Arg390Pro)SNV Pathogenic 221580 rs1135401728 3:25775454-25775454 3:25733963-25733963
4 NGLY1 NM_018297.4(NGLY1):c.930C>T (p.Gly310=)SNV Pathogenic 221583 rs745814294 3:25778898-25778898 3:25737407-25737407
5 NGLY1 NM_018297.4(NGLY1):c.881+5G>TSNV Pathogenic 221584 rs1135401731 3:25781063-25781063 3:25739572-25739572
6 NGLY1 NM_018297.4(NGLY1):c.730T>C (p.Trp244Arg)SNV Pathogenic 221581 rs1135401729 3:25781219-25781219 3:25739728-25739728
7 NGLY1 NM_018297.4(NGLY1):c.622C>T (p.Gln208Ter)SNV Pathogenic 221578 rs200561967 3:25792625-25792625 3:25751134-25751134
8 NGLY1 NM_018297.4(NGLY1):c.347C>G (p.Ser116Ter)SNV Pathogenic 221579 rs907852687 3:25805702-25805702 3:25764211-25764211
9 NGLY1 NM_018297.4(NGLY1):c.1201A>T (p.Arg401Ter)SNV Pathogenic 50962 rs201337954 3:25775422-25775422 3:25733931-25733931
10 NGLY1 NM_018297.4(NGLY1):c.1370dup (p.Arg458fs)duplication Pathogenic 126422 rs587777265 3:25773864-25773865 3:25732373-25732374
11 NGLY1 NM_018297.4(NGLY1):c.1202_1204GAA[1] (p.Arg402del)short repeat Pathogenic 126423 rs587777266 3:25775416-25775418 3:25733925-25733927
12 NGLY1 NM_018297.4(NGLY1):c.1624C>T (p.Arg542Ter)SNV Pathogenic 126424 rs528583612 3:25761670-25761670 3:25720179-25720179
13 NGLY1 NM_018297.4(NGLY1):c.871C>T (p.Arg291Ter)SNV Pathogenic 474235 rs772994617 3:25781078-25781078 3:25739587-25739587
14 NGLY1 NM_018297.4(NGLY1):c.1405C>T (p.Arg469Ter)SNV Pathogenic 488990 rs768131676 3:25773830-25773830 3:25732339-25732339
15 NGLY1 NM_018297.4(NGLY1):c.1533_1536del (p.Asn511fs)deletion Pathogenic 548658 rs765211108 3:25770699-25770702 3:25729208-25729211
16 NGLY1 NM_018297.4(NGLY1):c.857_873del (p.Cys286fs)deletion Pathogenic 541255 rs1375323331 3:25781076-25781092 3:25739585-25739601
17 NGLY1 NM_018297.4(NGLY1):c.1231C>T (p.Arg411Ter)SNV Pathogenic 647531 3:25775392-25775392 3:25733901-25733901
18 NGLY1 NC_000003.11:g.(?_25792569)_(25792774_?)deldeletion Pathogenic 647459 3:25792569-25792774 3:25751078-25751283
19 NGLY1 NM_018297.4(NGLY1):c.1264C>T (p.Gln422Ter)SNV Pathogenic 807449 3:25773971-25773971 3:25732480-25732480
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.1891del (p.Gln631fs)deletion Pathogenic/Likely pathogenic 50961 rs587776982 3:25761025-25761025 3:25719534-25719534
22 NGLY1 NM_018297.4(NGLY1):c.931G>A (p.Glu311Lys)SNV Pathogenic/Likely pathogenic 221576 rs201791209 3:25778897-25778897 3:25737406-25737406
23 NGLY1 NM_018297.4(NGLY1):c.1025A>G (p.Tyr342Cys)SNV Likely pathogenic 807450 3:25777619-25777619 3:25736128-25736128
24 NGLY1 NM_018297.4(NGLY1):c.247-1G>ASNV Likely pathogenic 642606 3:25805803-25805803 3:25764312-25764312
25 NGLY1 NM_018297.4(NGLY1):c.1481_1488del (p.His494fs)deletion Likely pathogenic 666353 3:25770747-25770754 3:25729256-25729263
26 NGLY1 NM_018297.4(NGLY1):c.1294G>T (p.Glu432Ter)SNV Likely pathogenic 804434 3:25773941-25773941 3:25732450-25732450
27 NGLY1 NM_018297.4(NGLY1):c.492+6G>ASNV Conflicting interpretations of pathogenicity 507010 rs200608265 3:25805551-25805551 3:25764060-25764060
28 NGLY1 NM_018297.4(NGLY1):c.1415T>C (p.Met472Thr)SNV Uncertain significance 541261 rs1553652803 3:25773820-25773820 3:25732329-25732329
29 NGLY1 NM_018297.4(NGLY1):c.1469C>T (p.Ser490Phe)SNV Uncertain significance 474211 rs144262689 3:25770766-25770766 3:25729275-25729275
30 NGLY1 NM_018297.4(NGLY1):c.872G>A (p.Arg291Gln)SNV Uncertain significance 474236 rs769627493 3:25781077-25781077 3:25739586-25739586
31 NGLY1 NM_018297.4(NGLY1):c.1913A>G (p.Asn638Ser)SNV Uncertain significance 474220 rs1553649841 3:25761003-25761003 3:25719512-25719512
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.815A>C (p.Lys272Thr)SNV Uncertain significance 474234 rs1553654532 3:25781134-25781134 3:25739643-25739643
34 NGLY1 NM_018297.4(NGLY1):c.728A>C (p.His243Pro)SNV Uncertain significance 474233 rs1553654596 3:25781221-25781221 3:25739730-25739730
35 NGLY1 NM_018297.4(NGLY1):c.646A>G (p.Lys216Glu)SNV Uncertain significance 474231 rs148972130 3:25792601-25792601 3:25751110-25751110
36 NGLY1 NM_018297.4(NGLY1):c.1918C>T (p.His640Tyr)SNV Uncertain significance 474221 rs529998714 3:25760998-25760998 3:25719507-25719507
37 NGLY1 NM_018297.4(NGLY1):c.1889C>A (p.Thr630Asn)SNV Uncertain significance 474219 rs891240035 3:25761027-25761027 3:25719536-25719536
38 NGLY1 NM_018297.4(NGLY1):c.1808A>G (p.Tyr603Cys)SNV Uncertain significance 474217 rs777069327 3:25761108-25761108 3:25719617-25719617
39 NGLY1 NM_018297.4(NGLY1):c.596C>T (p.Pro199Leu)SNV Uncertain significance 417960 rs760530009 3:25792651-25792651 3:25751160-25751160
40 NGLY1 NM_018297.4(NGLY1):c.1300C>G (p.Leu434Val)SNV Uncertain significance 474209 rs761035118 3:25773935-25773935 3:25732444-25732444
41 NGLY1 NM_018297.4(NGLY1):c.717A>C (p.Glu239Asp)SNV Uncertain significance 474232 rs754083716 3:25781232-25781232 3:25739741-25739741
42 NGLY1 NM_018297.4(NGLY1):c.629A>C (p.Lys210Thr)SNV Uncertain significance 474229 rs1553657104 3:25792618-25792618 3:25751127-25751127
43 NGLY1 NM_018297.4(NGLY1):c.1228C>T (p.Leu410Phe)SNV Uncertain significance 647628 3:25775395-25775395 3:25733904-25733904
44 NGLY1 NM_018297.4(NGLY1):c.967G>A (p.Val323Ile)SNV Uncertain significance 640855 3:25778861-25778861 3:25737370-25737370
45 NGLY1 NM_018297.4(NGLY1):c.800G>T (p.Ser267Ile)SNV Uncertain significance 644859 3:25781149-25781149 3:25739658-25739658
46 NGLY1 NM_018297.4(NGLY1):c.491C>T (p.Thr164Met)SNV Uncertain significance 665756 3:25805558-25805558 3:25764067-25764067
47 NGLY1 NM_018297.4(NGLY1):c.455G>A (p.Arg152His)SNV Uncertain significance 640667 3:25805594-25805594 3:25764103-25764103
48 NGLY1 NM_018297.4(NGLY1):c.452A>G (p.Asn151Ser)SNV Uncertain significance 644315 3:25805597-25805597 3:25764106-25764106
49 NGLY1 NM_018297.4(NGLY1):c.44C>G (p.Pro15Arg)SNV Uncertain significance 655831 3:25824838-25824838 3:25783347-25783347
50 NGLY1 NM_018297.4(NGLY1):c.3_5GGC[5] (p.Ala5dup)short repeat Uncertain significance 651035 3:25824867-25824868 3:25783376-25783377

Expression for Congenital Disorder of Deglycosylation

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

Pathways for Congenital Disorder of Deglycosylation

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 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 transcription coregulator activity GO:0003712 9.26 NFE2L1 MED19
2 hydrolase activity, acting on glycosyl bonds GO:0016798 9.16 ENGASE EDEM1
3 hydrolase activity GO:0016787 9.02 PSMC4 NGLY1 ENGASE EDEM1 DDI2
4 ubiquitin binding GO:0043130 8.96 FAF1 DDI2

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
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
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
Content
Loading form....