CDDG
MCID: CNG436
MIFTS: 42

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 58 12 76 30 6 74
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome 54 60
Congenital Disorder of Glycosylation Type Iv 12 76
Deficiency of N-Glycanase 1 12 54
Ngly1-Deficiency 12 15
Ngly1 Deficiency 54 60
Ngly1-Cddg 12 60
Cddg 58 76
Congenital Disorder of Glycosylation, Type Iv, Formerly; Cdg1v, Formerly 58
Congenital Disorder of Glycosylation, Type Iv, Formerly 58
Congenital Disorder of Glycosylation Type Iv; Cdg1v 54
Congenital Disorder of Deglycosylation;cddg 54
Congenital Disorder of Glycosylation 1v 76
Deglycosylation, Congenital Disorder of 41
Cdg1v, Formerly 58
N-Glycanase 1 13
Cdg1v 76
Cdgiv 76

Characteristics:

Orphanet epidemiological data:

60
alacrimia-choreoathetosis-liver dysfunction syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy


HPO:

33
congenital disorder of deglycosylation:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Congenital Disorder of Deglycosylation

NIH Rare Diseases : 54 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. Affiliated tissues include liver, eye and brain, and related phenotypes are hypertelorism and ptosis

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

OMIM : 58 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 : 76 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 top 50) (show all 65)
# Related Disease Score Top Affiliating Genes
1 ngly1-related congenital disorder of deglycosylation 12.3
2 ngly1-congenital disorder of deglycosylation 11.6
3 tetralogy of fallot 10.1
4 fungal esophagitis 10.1 ATP12A ATP4A
5 diclofenac allergy 10.1 ATP12A ATP4A
6 gastroduodenal crohn's disease 10.1 ATP12A ATP4A
7 neonatal candidiasis 10.1 ATP12A ATP4A
8 photoallergic dermatitis 10.1 ATP12A ATP4A
9 squamous papillomatosis 10.1 ATP12A ATP4A
10 toxic megacolon 10.1 ATP12A ATP4A
11 aspiration pneumonitis 10.1 ATP12A ATP4A
12 gastrointestinal neuroendocrine benign tumor 10.1 ATP12A ATP4A
13 gastric antral vascular ectasia 10.1 ATP12A ATP4A
14 granulomatous gastritis 10.1 ATP12A ATP4A
15 esophageal candidiasis 10.1 ATP12A ATP4A
16 gastric neuroendocrine neoplasm 10.1 ATP12A ATP4A
17 acute laryngitis 10.1 ATP12A ATP4A
18 laryngitis 10.0 ATP12A ATP4A
19 duodenitis 10.0 ATP12A ATP4A
20 rumination disorder 10.0 ATP12A ATP4A
21 active peptic ulcer disease 10.0 ATP12A ATP4A
22 bladder calculus 10.0 ATP12A ATP4A
23 ischemic neuropathy 10.0 ATP12A ATP4A
24 bile reflux 10.0 ATP12A ATP4A
25 capillary disease 10.0 ATP12A ATP4A
26 peptic esophagitis 10.0 ATP12A ATP4A
27 dyskinesia of esophagus 10.0 ATP12A ATP4A
28 hernia, hiatus 10.0 ATP12A ATP4A
29 anismus 10.0 ATP12A ATP4A
30 postsurgical hypothyroidism 10.0 ATP12A ATP4A
31 lymphocytic colitis 10.0 ATP12A ATP4A
32 esophageal atresia/tracheoesophageal fistula 10.0 ATP12A ATP4A
33 clostridium difficile colitis 10.0 ATP12A ATP4A
34 diarrhea 1, secretory chloride, congenital 10.0 ATP12A ATP4A
35 esophagitis, eosinophilic, 1 10.0 ATP12A ATP4A
36 microscopic colitis 10.0 ATP12A ATP4A
37 laryngeal tuberculosis 10.0 ATP12A ATP4A
38 chronic laryngitis 10.0 ATP12A ATP4A
39 eosinophilic gastritis 10.0 ATP12A ATP4A
40 esophagus adenocarcinoma 10.0 ATP12A ATP4A
41 chronic intestinal vascular insufficiency 10.0 ATP12A ATP4A
42 polyposis, skin pigmentation, alopecia, and fingernail changes 10.0 ATP12A ATP4A
43 jejunoileitis 10.0 ATP12A ATP4A
44 pancreatic steatorrhea 10.0 ATP12A ATP4A
45 esophageal varix 10.0 ATP12A ATP4A
46 superior mesenteric artery syndrome 10.0 ATP12A ATP4A
47 gastric lymphoma 10.0 ATP12A ATP4A
48 lower urinary tract calculus 10.0 ATP12A ATP4A
49 myopathy, x-linked, with excessive autophagy 10.0 ATP12A ATP4A
50 aspiration pneumonia 10.0 ATP12A ATP4A

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:

33 (show top 50) (show all 57)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 33 very rare (1%) HP:0000316
2 ptosis 33 very rare (1%) HP:0000508
3 hyperhidrosis 33 very rare (1%) HP:0000975
4 seizures 33 very rare (1%) HP:0001250
5 scoliosis 33 very rare (1%) HP:0002650
6 global developmental delay 33 very rare (1%) HP:0001263
7 recurrent respiratory infections 33 very rare (1%) HP:0002205
8 hepatomegaly 33 very rare (1%) HP:0002240
9 corneal opacity 33 very rare (1%) HP:0007957
10 microcephaly 33 very rare (1%) HP:0000252
11 osteoporosis 33 very rare (1%) HP:0000939
12 strabismus 33 very rare (1%) HP:0000486
13 respiratory distress 33 very rare (1%) HP:0002098
14 short foot 33 very rare (1%) HP:0001773
15 elevated hepatic transaminase 33 very rare (1%) HP:0002910
16 increased serum lactate 33 very rare (1%) HP:0002151
17 hyporeflexia 33 very rare (1%) HP:0001265
18 elevated alpha-fetoprotein 33 very rare (1%) HP:0006254
19 anhidrosis 33 very rare (1%) HP:0000970
20 restlessness 33 very rare (1%) HP:0000711
21 single transverse palmar crease 33 very rare (1%) HP:0000954
22 intrinsic hand muscle atrophy 33 very rare (1%) HP:0008954
23 hyperkinesis 33 very rare (1%) HP:0002487
24 oral-pharyngeal dysphagia 33 very rare (1%) HP:0200136
25 pain insensitivity 33 very rare (1%) HP:0007021
26 facial hypotonia 33 very rare (1%) HP:0000297
27 central sleep apnea 33 very rare (1%) HP:0010536
28 decreased sensory nerve conduction velocity 33 very rare (1%) HP:0003448
29 delayed myelination 33 very rare (1%) HP:0012448
30 elevated brain choline level by mrs 33 very rare (1%) HP:0012706
31 reduced brain n-acetyl aspartate level by mrs 33 very rare (1%) HP:0012708
32 high myoinositol in brain by mrs 33 very rare (1%) HP:0025460
33 impaired oropharyngeal swallow response 33 very rare (1%) HP:0031162
34 suck reflex 33 very rare (1%) HP:0030906
35 decreased csf/serum albumin ratio 33 very rare (1%) HP:0030978
36 reduced brain glutamine level by mrs 33 very rare (1%) HP:0030980
37 impaired oral bolus formation 33 very rare (1%) HP:0031146
38 chorea 33 HP:0002072
39 anteverted nares 33 HP:0000463
40 fever 33 HP:0001945
41 brachycephaly 33 HP:0000248
42 myoclonus 33 HP:0001336
43 dysmetria 33 HP:0001310
44 small hand 33 HP:0200055
45 narrow face 33 HP:0000275
46 pain 33 HP:0012531
47 action tremor 33 HP:0002345
48 decreased body weight 33 HP:0004325
49 generalized hypotonia 33 HP:0001290
50 polyneuropathy 33 HP:0001271

Symptoms via clinical synopsis from OMIM:

58
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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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 30 NGLY1

Anatomical Context for Congenital Disorder of Deglycosylation

MalaCards organs/tissues related to Congenital Disorder of Deglycosylation:

42
Liver, Eye, Brain, Skin, Testes

Publications for Congenital Disorder of Deglycosylation

Articles related to Congenital Disorder of Deglycosylation:

# Title Authors Year
1
Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation. ( 27388694 )
2017
2
A congenital disorder of deglycosylation: Biochemical characterization of N-glycanase 1 deficiency in patient fibroblasts. ( 25900930 )
2015
3
Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway. ( 24651605 )
2014
4
Clinical application of exome sequencing in undiagnosed genetic conditions. ( 22581936 )
2012

Variations for Congenital Disorder of Deglycosylation

ClinVar genetic disease variations for Congenital Disorder of Deglycosylation:

6 (show top 50) (show all 160)
# Gene Variation Type Significance SNP ID Assembly Location
1 NGLY1 NM_018297.3(NGLY1): c.1891delC (p.Gln631Serfs) deletion Pathogenic/Likely pathogenic rs587776982 GRCh37 Chromosome 3, 25761025: 25761025
2 NGLY1 NM_018297.3(NGLY1): c.1891delC (p.Gln631Serfs) deletion Pathogenic/Likely pathogenic rs587776982 GRCh38 Chromosome 3, 25719534: 25719534
3 NGLY1 NM_018297.3(NGLY1): c.1201A> T (p.Arg401Ter) single nucleotide variant Pathogenic rs201337954 GRCh37 Chromosome 3, 25775422: 25775422
4 NGLY1 NM_018297.3(NGLY1): c.1201A> T (p.Arg401Ter) single nucleotide variant Pathogenic rs201337954 GRCh38 Chromosome 3, 25733931: 25733931
5 NGLY1 NM_018297.3(NGLY1): c.1370dupG (p.Arg458Lysfs) duplication Pathogenic rs587777265 GRCh37 Chromosome 3, 25773865: 25773865
6 NGLY1 NM_018297.3(NGLY1): c.1370dupG (p.Arg458Lysfs) duplication Pathogenic rs587777265 GRCh38 Chromosome 3, 25732374: 25732374
7 NGLY1 NM_001145294.1(NGLY1): c.1079_1081delGAA (p.Arg360del) deletion Pathogenic rs587777266 GRCh37 Chromosome 3, 25775416: 25775418
8 NGLY1 NM_001145294.1(NGLY1): c.1079_1081delGAA (p.Arg360del) deletion Pathogenic rs587777266 GRCh38 Chromosome 3, 25733925: 25733927
9 NGLY1 NM_018297.3(NGLY1): c.1624C> T (p.Arg542Ter) single nucleotide variant Pathogenic rs528583612 GRCh37 Chromosome 3, 25761670: 25761670
10 NGLY1 NM_018297.3(NGLY1): c.1624C> T (p.Arg542Ter) single nucleotide variant Pathogenic rs528583612 GRCh38 Chromosome 3, 25720179: 25720179
11 NGLY1 NM_018297.3(NGLY1): c.1910delT (p.Leu637Terfs) deletion Pathogenic rs1135401730 GRCh37 Chromosome 3, 25761006: 25761006
12 NGLY1 NM_018297.3(NGLY1): c.1910delT (p.Leu637Terfs) deletion Pathogenic rs1135401730 GRCh38 Chromosome 3, 25719515: 25719515
13 NGLY1 NM_018297.3(NGLY1): c.1604G> A (p.Trp535Ter) single nucleotide variant Pathogenic rs767388144 GRCh37 Chromosome 3, 25770631: 25770631
14 NGLY1 NM_018297.3(NGLY1): c.1604G> A (p.Trp535Ter) single nucleotide variant Pathogenic rs767388144 GRCh38 Chromosome 3, 25729140: 25729140
15 NGLY1 NM_018297.3(NGLY1): c.1169G> C (p.Arg390Pro) single nucleotide variant Pathogenic rs1135401728 GRCh37 Chromosome 3, 25775454: 25775454
16 NGLY1 NM_018297.3(NGLY1): c.1169G> C (p.Arg390Pro) single nucleotide variant Pathogenic rs1135401728 GRCh38 Chromosome 3, 25733963: 25733963
17 NGLY1 NM_018297.3(NGLY1): c.931G> A (p.Glu311Lys) single nucleotide variant Pathogenic rs201791209 GRCh37 Chromosome 3, 25778897: 25778897
18 NGLY1 NM_018297.3(NGLY1): c.931G> A (p.Glu311Lys) single nucleotide variant Pathogenic rs201791209 GRCh38 Chromosome 3, 25737406: 25737406
19 NGLY1 NM_018297.3(NGLY1): c.930C> T (p.Gly310=) single nucleotide variant Pathogenic rs745814294 GRCh37 Chromosome 3, 25778898: 25778898
20 NGLY1 NM_018297.3(NGLY1): c.930C> T (p.Gly310=) single nucleotide variant Pathogenic rs745814294 GRCh38 Chromosome 3, 25737407: 25737407
21 NGLY1 NM_018297.3(NGLY1): c.881+5G> T single nucleotide variant Pathogenic rs1135401731 GRCh37 Chromosome 3, 25781063: 25781063
22 NGLY1 NM_018297.3(NGLY1): c.881+5G> T single nucleotide variant Pathogenic rs1135401731 GRCh38 Chromosome 3, 25739572: 25739572
23 NGLY1 NM_018297.3(NGLY1): c.730T> C (p.Trp244Arg) single nucleotide variant Pathogenic rs1135401729 GRCh37 Chromosome 3, 25781219: 25781219
24 NGLY1 NM_018297.3(NGLY1): c.730T> C (p.Trp244Arg) single nucleotide variant Pathogenic rs1135401729 GRCh38 Chromosome 3, 25739728: 25739728
25 NGLY1 NM_018297.3(NGLY1): c.622C> T (p.Gln208Ter) single nucleotide variant Pathogenic rs200561967 GRCh37 Chromosome 3, 25792625: 25792625
26 NGLY1 NM_018297.3(NGLY1): c.622C> T (p.Gln208Ter) single nucleotide variant Pathogenic rs200561967 GRCh38 Chromosome 3, 25751134: 25751134
27 NGLY1 NM_018297.3(NGLY1): c.347C> G (p.Ser116Ter) single nucleotide variant Pathogenic rs907852687 GRCh37 Chromosome 3, 25805702: 25805702
28 NGLY1 NM_018297.3(NGLY1): c.347C> G (p.Ser116Ter) single nucleotide variant Pathogenic rs907852687 GRCh38 Chromosome 3, 25764211: 25764211
29 NGLY1 NM_018297.3(NGLY1): c.1150-1G> C single nucleotide variant Pathogenic/Likely pathogenic rs532007026 GRCh37 Chromosome 3, 25775474: 25775474
30 NGLY1 NM_018297.3(NGLY1): c.1150-1G> C single nucleotide variant Pathogenic/Likely pathogenic rs532007026 GRCh38 Chromosome 3, 25733983: 25733983
31 NGLY1 NM_018297.3(NGLY1): c.1869T> C (p.Gly623=) single nucleotide variant Benign/Likely benign rs73155397 GRCh37 Chromosome 3, 25761047: 25761047
32 NGLY1 NM_018297.3(NGLY1): c.1869T> C (p.Gly623=) single nucleotide variant Benign/Likely benign rs73155397 GRCh38 Chromosome 3, 25719556: 25719556
33 NGLY1 NM_018297.3(NGLY1): c.1722A> G (p.Gln574=) single nucleotide variant Benign/Likely benign rs74650888 GRCh37 Chromosome 3, 25761572: 25761572
34 NGLY1 NM_018297.3(NGLY1): c.1722A> G (p.Gln574=) single nucleotide variant Benign/Likely benign rs74650888 GRCh38 Chromosome 3, 25720081: 25720081
35 NGLY1 NM_018297.3(NGLY1): c.596C> T (p.Pro199Leu) single nucleotide variant Uncertain significance rs760530009 GRCh38 Chromosome 3, 25751160: 25751160
36 NGLY1 NM_018297.3(NGLY1): c.596C> T (p.Pro199Leu) single nucleotide variant Uncertain significance rs760530009 GRCh37 Chromosome 3, 25792651: 25792651
37 NGLY1 NM_018297.3(NGLY1): c.1875C> G (p.Val625=) single nucleotide variant Likely benign rs117889176 GRCh37 Chromosome 3, 25761041: 25761041
38 NGLY1 NM_018297.3(NGLY1): c.1875C> G (p.Val625=) single nucleotide variant Likely benign rs117889176 GRCh38 Chromosome 3, 25719550: 25719550
39 NGLY1 NM_018297.3(NGLY1): c.1300C> G (p.Leu434Val) single nucleotide variant Uncertain significance rs761035118 GRCh37 Chromosome 3, 25773935: 25773935
40 NGLY1 NM_018297.3(NGLY1): c.1300C> G (p.Leu434Val) single nucleotide variant Uncertain significance rs761035118 GRCh38 Chromosome 3, 25732444: 25732444
41 NGLY1 NM_018297.3(NGLY1): c.881+8C> T single nucleotide variant Benign/Likely benign rs143998271 GRCh37 Chromosome 3, 25781060: 25781060
42 NGLY1 NM_018297.3(NGLY1): c.881+8C> T single nucleotide variant Benign/Likely benign rs143998271 GRCh38 Chromosome 3, 25739569: 25739569
43 NGLY1 NM_018297.3(NGLY1): c.717A> C (p.Glu239Asp) single nucleotide variant Uncertain significance rs754083716 GRCh38 Chromosome 3, 25739741: 25739741
44 NGLY1 NM_018297.3(NGLY1): c.717A> C (p.Glu239Asp) single nucleotide variant Uncertain significance rs754083716 GRCh37 Chromosome 3, 25781232: 25781232
45 NGLY1 NM_018297.3(NGLY1): c.629A> C (p.Lys210Thr) single nucleotide variant Uncertain significance rs1553657104 GRCh38 Chromosome 3, 25751127: 25751127
46 NGLY1 NM_018297.3(NGLY1): c.629A> C (p.Lys210Thr) single nucleotide variant Uncertain significance rs1553657104 GRCh37 Chromosome 3, 25792618: 25792618
47 NGLY1 NM_018297.3(NGLY1): c.492+4A> T single nucleotide variant Likely benign rs181461044 GRCh38 Chromosome 3, 25764062: 25764062
48 NGLY1 NM_018297.3(NGLY1): c.492+4A> T single nucleotide variant Likely benign rs181461044 GRCh37 Chromosome 3, 25805553: 25805553
49 NGLY1 NM_018297.3(NGLY1): c.1918C> T (p.His640Tyr) single nucleotide variant Uncertain significance rs529998714 GRCh38 Chromosome 3, 25719507: 25719507
50 NGLY1 NM_018297.3(NGLY1): c.1918C> T (p.His640Tyr) single nucleotide variant Uncertain significance rs529998714 GRCh37 Chromosome 3, 25760998: 25760998

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 ENGASE NGLY1

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

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 9.46 ATP12A ATP4A ENGASE NGLY1
2 sodium:potassium-exchanging ATPase activity GO:0005391 8.96 ATP12A ATP4A
3 potassium:proton exchanging ATPase activity GO:0008900 8.62 ATP12A ATP4A

Sources for Congenital Disorder of Deglycosylation

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