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MCID: CNG411
MIFTS: 62

Congenital Disorder of Glycosylation, Type in

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Liver diseases, Ear diseases, Metabolic diseases, Fetal diseases, Skin diseases, Cardiovascular diseases, Mental diseases, Blood diseases, Gastrointestinal diseases, Nephrological diseases, Bone diseases, Muscle diseases, Endocrine diseases
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Aliases & Classifications for Congenital Disorder of Glycosylation, Type in

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MalaCards integrated aliases for Congenital Disorder of Glycosylation, Type in:

Name: Congenital Disorder of Glycosylation, Type in 57 13 73
Congenital Disorder of Glycosylation 12 76 53 29 6 15
Congenital Disorder of Glycosylation Type 1n 59 29 6
Congenital Disorders of Glycosylation 53 44 73
Cdg1n 57 59 75
Carbohydrate-Deficient Glycoprotein Syndrome 12 55
Congenital Disorder of Glycosylation Type in 59 75
Cdg in 57 75
Cdg-in 59 75
Cdgin 57 75
Carbohydrate Deficient Glycoprotein Syndrome Type in 59
Glycosylation, Congenital Disorder of, Type in 40
Carbohydrate-Deficient Glycoprotein Syndromes 53
Carbohydrate Deficient Glycoprotein Syndrome 76
Congenital Disorder of Glycosylation 1n 75
Man5glcnac2-Pp-Dol Flippase Deficiency 59
Cdg Syndrome Type in 59
Cdg in; Cdgin 57
Cdg Syndrome 76
Rft1-Cdg 59
Cdg 53

Characteristics:

Orphanet epidemiological data:

59
rft1-cdg
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 glycosylation, type in:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Fetal diseases
Anatomical: Neuronal diseases Liver diseases Ear diseases Skin diseases Cardiovascular diseases Mental diseases Blood diseases Gastrointestinal diseases Nephrological diseases Bone diseases Muscle diseases Endocrine diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare neurological diseases
Rare hepatic diseases
Rare otorhinolaryngological diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis


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Summaries for Congenital Disorder of Glycosylation, Type in

About this section
NIH Rare Diseases : 53 Congenital disorders of glycosylation (CDG) are a group of inheritedmetabolic disorders that affect a process called glycosylation. Glycosylation is the complex process by which all human cells build long sugar chains that are attached to proteins, which are called glycoproteins. There are many steps involved in this process, and each step is triggered by a type of protein called an enzyme. Individuals with a CDG are missing one of the enzymes that is required for glycosylation. The type of CDG that a person has depends on which enzyme is missing. Currently, there are 19 identified types of CDG. CDG type IA is the most common form. The symptoms of CDG vary widely among affected individuals. Some people have severe developmental delay, failure to thrive, and multiple organ problems, while others have diarrhea, low blood sugar (hypoglycemia), liver problems, and normal developmental potential.

MalaCards based summary : Congenital Disorder of Glycosylation, Type in, also known as congenital disorder of glycosylation, is related to congenital disorder of glycosylation, type ie and congenital disorder of glycosylation, type ii, and has symptoms including ataxia, muscle spasticity and myoclonus. An important gene associated with Congenital Disorder of Glycosylation, Type in is RFT1 (RFT1 Homolog), and among its related pathways/superpathways are Metabolism and Metabolism of proteins. The drugs Warfarin and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include liver, heart and eye, and related phenotypes are seizures and ataxia

Disease Ontology : 12 A carbohydrate metabolic disorder that involves deficient or defective glycosylation of a variety of tissue proteins and/or lipids.

OMIM : 57 Congenital disorders of glycosylation (CDGs) are a genetically heterogeneous group of autosomal recessive disorders caused by enzymatic defects in the synthesis and processing of asparagine (N)-linked glycans or oligosaccharides on glycoproteins. Type I CDGs comprise defects in the assembly of the dolichol lipid-linked oligosaccharide (LLO) chain and its transfer to the nascent protein. These disorders can be identified by a characteristic abnormal isoelectric focusing profile of plasma transferrin (Leroy, 2006). For a discussion of the classification of CDGs, see CDG1A (212065). (612015)

UniProtKB/Swiss-Prot : 75 Congenital disorder of glycosylation 1N: A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions.

Wikipedia : 76 A congenital disorder of glycosylation (previously called carbohydrate-deficient glycoprotein syndrome)... more...

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Related Diseases for Congenital Disorder of Glycosylation, Type in

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Diseases in the Congenital Disorder of Glycosylation, Type in family:

Congenital Disorder of Glycosylation, Type Ia Congenital Disorder of Glycosylation, Type Iia
Congenital Disorder of Glycosylation, Type I/iix Congenital Disorder of Glycosylation, Type Iic
Congenital Disorder of Glycosylation, Type Iim Congenital Disorder of Glycosylation, Type Iy
Congenital Disorder of Glycosylation, Type Id Congenital Disorder of Glycosylation, Type Ib
Congenital Disorder of Glycosylation, Type Ic Congenital Disorder of Glycosylation, Type Iif
Congenital Disorder of Glycosylation, Type Iib Congenital Disorder of Glycosylation, Type Iid
Congenital Disorder of Glycosylation, Type Ig Congenital Disorder of Glycosylation, Type Ii
Congenital Disorder of Glycosylation, Type Ij Congenital Disorder of Glycosylation, Type Ih
Congenital Disorder of Glycosylation, Type Ik Congenital Disorder of Glycosylation, Type Il
Congenital Disorder of Glycosylation, Type Ie Congenital Disorder of Glycosylation, Type if
Congenital Disorder of Glycosylation, Type Im Congenital Disorder of Glycosylation, Type Iih
Congenital Disorder of Glycosylation, Type Iig Congenital Disorder of Glycosylation, Type Iq
Congenital Disorder of Glycosylation, Type Io Congenital Disorder of Glycosylation, Type Iij
Congenital Disorder of Glycosylation, Type Iii Congenital Disorder of Glycosylation, Type Ip
Congenital Disorder of Glycosylation, Type Ir Congenital Disorder of Glycosylation, Type Iil
Congenital Disorder of Glycosylation, Type Iik Congenital Disorder of Glycosylation, Type It
Congenital Disorder of Glycosylation, Type Iu Congenital Disorder of Glycosylation, Type Iw
Congenital Disorder of Glycosylation, Type Ix Congenital Disorder of Glycosylation, Type Iin
Congenital Disorder of Glycosylation, Type Iio Congenital Disorder of Glycosylation, Type Iip
Congenital Disorder of Glycosylation, Type Iiq

Diseases related to Congenital Disorder of Glycosylation, Type in via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 24)
# Related Disease Score Top Affiliating Genes
1 congenital disorder of glycosylation, type ie 35.2 PMM2 SSR4
2 congenital disorder of glycosylation, type ii 34.7 ALG2 TF
3 congenital disorder of glycosylation, type ia 34.5 CLU HP PMM2 TF
4 epileptic encephalopathy, early infantile, 36 31.8 ALG13 DPM2 HP PMM2 TF
5 gmppa-cdg 12.1
6 congenital disorder of glycosylation, type ic 12.0
7 congenital disorder of glycosylation, type iia 11.9
8 congenital disorder of glycosylation, type ig 11.8
9 congenital disorder of glycosylation, type ih 11.8
10 alg6-congenital disorder of glycosylation 11.6
11 congenital disorders of n-linked glycosylation and multiple pathway 11.6
12 pmm2-congenital disorder of glycosylation 11.5
13 congenital disorder of glycosylation, type iii 11.5
14 cog5-congenital disorder of glycosylation 11.5
15 congenital disorder of glycosylation, type id 11.5
16 tenosynovial giant cell tumor 10.8 CLU PGM1
17 multiple congenital anomalies-hypotonia-seizures syndrome 3 10.8 PMM2 TF
18 orbital cyst 10.7 PTGDS TF
19 congenital disorder of glycosylation, type ib 10.7
20 glucosephosphate dehydrogenase deficiency 10.6 HP PGM1
21 melancholia 10.6 HP TF
22 protein-losing enteropathy 10.4 ALG6 MPI
23 fructose intolerance, hereditary 10.2 ALG2 CLU HP PMM2 TF
24 camurati-engelmann disease 10.2 ALG2 TMEM165

Graphical network of the top 20 diseases related to Congenital Disorder of Glycosylation, Type in:



Diseases related to Congenital Disorder of Glycosylation, Type in
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Symptoms & Phenotypes for Congenital Disorder of Glycosylation, Type in

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Symptoms via clinical synopsis from OMIM:

57
Head And Neck Neck:
short neck

Growth Other:
failure to thrive

Head And Neck Head:
microcephaly

Head And Neck Face:
micrognathia

Chest Breasts:
inverted nipples

Head And Neck Ears:
sensorineural deafness

Skeletal Hands:
adducted thumbs

Skeletal Feet:
valgus foot deformity

Laboratory Abnormalities:
type i pattern of serum sialotransferrins
accumulation of the incomplete oligosaccharide man(5)glcnac(2)-pp-dolichol

Neurologic Central Nervous System:
seizures
ataxia
spasticity
hyperreflexia
myoclonus
more
Respiratory:
respiratory insufficiency

Growth Height:
short stature

Abdomen Gastrointestinal:
feeding difficulties

Muscle Soft Tissue:
hypotonia

Head And Neck Eyes:
decreased visual acuity
lack of eye contact

Abdomen Liver:
hepatomegaly (in some patients)

Hematology:
coagulopathy (in some patients)


Clinical features from OMIM:

612015

Human phenotypes related to Congenital Disorder of Glycosylation, Type in:

59 32 (show top 50) (show all 55)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 59 32 frequent (33%) Obligate (100%) HP:0001250
2 ataxia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001251
3 muscular hypotonia 59 32 obligate (100%) Obligate (100%) HP:0001252
4 failure to thrive 59 32 hallmark (90%) Frequent (79-30%) HP:0001508
5 hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000365
6 global developmental delay 59 32 hallmark (90%) Obligate (100%) HP:0001263
7 hepatomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0002240
8 microcephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000252
9 visual impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000505
10 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
11 abnormal bleeding 59 32 frequent (33%) Frequent (79-30%) HP:0001892
12 abnormal thrombosis 59 32 frequent (33%) Frequent (79-30%) HP:0001977
13 feeding difficulties 59 32 frequent (33%) Frequent (79-30%) HP:0011968
14 inverted nipples 59 32 frequent (33%) Frequent (79-30%) HP:0003186
15 cerebral cortical atrophy 59 32 hallmark (90%) Occasional (29-5%) HP:0002120
16 stroke-like episode 59 32 occasional (7.5%) Occasional (29-5%) HP:0002401
17 arthrogryposis multiplex congenita 59 32 hallmark (90%) Very frequent (99-80%) HP:0002804
18 hyperintensity of cerebral white matter on mri 59 32 occasional (7.5%) Occasional (29-5%) HP:0030890
19 abnormality of coagulation 59 32 hallmark (90%) Frequent (79-30%) HP:0001928
20 abnormality of the posterior cranial fossa 59 32 occasional (7.5%) Occasional (29-5%) HP:0000932
21 bilateral basal ganglia lesions 59 32 occasional (7.5%) Occasional (29-5%) HP:0007146
22 short neck 32 HP:0000470
23 spasticity 32 HP:0001257
24 hyperreflexia 32 HP:0001347
25 respiratory insufficiency 32 HP:0002093
26 sensorineural hearing impairment 32 HP:0000407
27 abnormality of retinal pigmentation 32 hallmark (90%) HP:0007703
28 nephropathy 32 occasional (7.5%) HP:0000112
29 abnormality of vision 32 frequent (33%) HP:0000504
30 intellectual disability, severe 32 HP:0010864
31 hypoglycemia 32 frequent (33%) HP:0001943
32 decreased liver function 32 occasional (7.5%) HP:0001410
33 ascites 32 occasional (7.5%) HP:0001541
34 micrognathia 32 HP:0000347
35 peripheral neuropathy 32 occasional (7.5%) HP:0009830
36 strabismus 32 hallmark (90%) HP:0000486
37 myoclonus 32 HP:0001336
38 wide intermamillary distance 32 hallmark (90%) HP:0006610
39 aplasia/hypoplasia of the nipples 32 hallmark (90%) HP:0006709
40 elevated hepatic transaminases 32 hallmark (90%) HP:0002910
41 cardiomyopathy 32 frequent (33%) HP:0001638
42 reduced visual acuity 32 HP:0007663
43 abnormality of immune system physiology 32 hallmark (90%) HP:0010978
44 aplasia/hypoplasia of the cerebellum 32 hallmark (90%) HP:0007360
45 broad forehead 32 frequent (33%) HP:0000337
46 hypergonadotropic hypogonadism 32 frequent (33%) HP:0000815
47 adducted thumb 32 HP:0001181
48 cerebral atrophy 59 Occasional (29-5%)
49 abnormal subcutaneous fat tissue distribution 32 hallmark (90%) HP:0007552
50 abnormal pericardium morphology 32 frequent (33%) HP:0001697

UMLS symptoms related to Congenital Disorder of Glycosylation, Type in:


ataxia, muscle spasticity, myoclonus, seizures

GenomeRNAi Phenotypes related to Congenital Disorder of Glycosylation, Type in according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00240-S-1 9.98 RFT1
2 Decreased viability GR00402-S-2 9.98 ALG13 ALG2 ALG6 CLU DDOST DPM2
3 no effect GR00402-S-1 9.62 ALG1 ALG13 ALG2 ALG6 CLU DDOST
4 Decreased shRNA abundance GR00297-A 9.46 ALG1 DPM2 MPI PMM2
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Drugs & Therapeutics for Congenital Disorder of Glycosylation, Type in

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Warfarin Approved Phase 1 81-81-2 6691 54678486
2 Pharmaceutical Solutions Phase 1
3
Protein C Approved Not Applicable
4 Antithrombin III
5 Antithrombins

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Study of ORL-1F in Patients With Leukocyte Adhesion Deficiency Type II Completed NCT03354533 Phase 1, Phase 2 ORL-1F
2 Using D-Galactose as a Food Supplement in Congenital Disorders of Glycosylation Recruiting NCT02955264 Phase 2
3 Immunologic Effects of Supplemental Monosaccharide and Nucleoside Derivatives in Patients With Inherited Disorders of Glycosylation Terminated NCT02511041 Phase 1 N-Acetylglucosamine (GlcNAc);Uridine
4 Study of Hemostasis in Patients With Congenital Disorder of Glycosylation Completed NCT03560570
5 Clinical and Basic Investigations Into Known and Suspected Congenital Disorders of Glycosylation Recruiting NCT02089789
6 Role of the Endothelium in Stroke-like Episode Among CDG Patients Recruiting NCT03250728 Not Applicable
7 "Incidence and Consequences of Disorders of Glycosylation in Patients With Conotruncal and Septal Heart Defects" Recruiting NCT02503267
8 Natural History Study Protocol in PMM2-CDG (CDG-Ia) Recruiting NCT03173300

Search NIH Clinical Center for Congenital Disorder of Glycosylation, Type in

Cochrane evidence based reviews: congenital disorders of glycosylation

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Genetic Tests for Congenital Disorder of Glycosylation, Type in

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Genetic tests related to Congenital Disorder of Glycosylation, Type in:

# Genetic test Affiliating Genes
1 Congenital Disorder of Glycosylation Type 1n 29 RFT1
2 Congenital Disorder of Glycosylation 29 ALG13 DDOST DPM2 MAGT1 PGM1 SSR4 TMEM165 TUSC3
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Anatomical Context for Congenital Disorder of Glycosylation, Type in

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MalaCards organs/tissues related to Congenital Disorder of Glycosylation, Type in:

41
Liver, Heart, Eye, Cerebellum, Skin, Testes, Ovary
Sources

Publications for Congenital Disorder of Glycosylation, Type in

About this section

Articles related to Congenital Disorder of Glycosylation, Type in:

(show top 50) (show all 231)
# Title Authors Year
1
Complex Phenotypes in Inborn Errors of Metabolism: Overlapping Presentations in Congenital Disorders of Glycosylation and Mitochondrial Disorders. ( 29502919 )
2018
2
Receptor-mediated selective impairment of insulin-like growth factor-1 activity in congenital disorders of glycosylation patients. ( 27089502 )
2017
3
Association of Steroid 5I+-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy. ( 28253385 )
2017
4
Expanding the phenotype of phosphomannomutase-2 gene congenital disorder of glycosylation: Cervical dystonia. ( 28566178 )
2017
5
Mutations in TRAPPC11 are associated with a congenital disorder of glycosylation. ( 27862579 )
2017
6
Phenotypic Heterogeneity in a Congenital Disorder of Glycosylation Caused by Mutations in STT3A. ( 28424003 )
2017
7
Single-center experience of N-linked Congenital Disorders of Glycosylation with a Summary of Molecularly Characterized Cases in Arabs. ( 28940310 )
2017
8
TMEM165 deficiencies in Congenital Disorders of Glycosylation type II (CDG-II): Clues and evidences for roles of the protein in Golgi functions and ion homeostasis. ( 27401145 )
2017
9
Mass spectrometry of transferrin glycoforms to detect congenital disorders of glycosylation: Site-specific profiles and pitfalls. ( 27095603 )
2016
10
Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy. ( 27172925 )
2016
11
Skeletal dysplasia as the presenting feature of a congenital disorder of glycosylation. ( 27773000 )
2016
12
A case of fatal Type I congenital disorders of glycosylation (CDG I) associated with low dehydrodolichol diphosphate synthase (DHDDS) activity. ( 27343064 )
2016
13
A mouse model of a human congenital disorder of glycosylation caused by loss of PMM2. ( 27053713 )
2016
14
SRD5A3-CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features. ( 27480077 )
2016
15
Clinical utility gene card for: MAN1B1 defective congenital disorder of glycosylation. ( 26577042 )
2016
16
Fetal akinesia deformation sequence due to a congenital disorder of glycosylation. ( 26033833 )
2015
17
Clinical utility gene card for: ALG1 defective congenital disorder of glycosylation. ( 25649379 )
2015
18
Application of whole exome sequencing to a rare inherited metabolic disease with neurological and gastrointestinal manifestations: A congenital disorder of glycosylation mimicking glycogen storage disease. ( 25681648 )
2015
19
High-resolution mass spectrometry glycoprofiling of intact transferrin for diagnosis and subtype identification in the congenital disorders of glycosylation. ( 26307094 )
2015
20
Congenital Disorder of Glycosylation (CDG) Presenting as Non-immune Hydrops Fetalis. ( 26365158 )
2015
21
Mutation of Nogo-B receptor, a subunit of cis-prenyltransferase, causes a congenital disorder of glycosylation. ( 25066056 )
2014
22
PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia. ( 24931394 )
2014
23
Clinical and pathological heterogeneity of a congenital disorder of glycosylation manifesting as a myasthenic/myopathic syndrome. ( 24461433 )
2014
24
A case of congenital disorder of glycosylation ia presented with recurrent pericardial effusion. ( 25793077 )
2014
25
Clinical utility gene card for: ALG6 defective congenital disorder of glycosylation. ( 25052310 )
2014
26
Mutations in COG2 encoding a subunit of the conserved oligomeric golgi complex cause a congenital disorder of glycosylation. ( 24784932 )
2014
27
Initial diagnosis of the congenital disorder of glycosylation PMM2-CDG (CDG1a) in a 4-year-old girl after neurosurgical intervention for cerebral hemorrhage. ( 25192236 )
2014
28
Wrinkled skin and fat pads in patients with ALG8-CDG: revisiting skin manifestations in congenital disorders of glycosylation. ( 24555185 )
2014
29
Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy. ( 23856421 )
2013
30
Subcutaneous fat pads on body MRI - an early sign of congenital disorder of glycosylation PMM2-CDG (CDG1a). ( 24037084 )
2013
31
Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation. ( 23561849 )
2013
32
From discrete dilated cardiomyopathy to successful cardiac transplantation in congenital disorders of glycosylation due to dolichol kinase deficiency (DK1-CDG). ( 22327749 )
2013
33
Congenital disorders of glycosylation and intellectual disability. ( 23798010 )
2013
34
A novel congenital disorder of glycosylation type without central nervous system involvement caused by mutations in the phosphoglucomutase 1 gene. ( 22976764 )
2013
35
Mass spectrometric analysis of neutral and anionic N-glycans from a Dictyostelium discoideum model for human congenital disorder of glycosylation CDG IL. ( 23320427 )
2013
36
A new congenital disorder of glycosylation caused by a mutation in SSR4, the signal sequence receptor 4 protein of the TRAP complex. ( 24218363 )
2013
37
A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype. ( 23249953 )
2013
38
Bone dysplasia as a key feature in three patients with a novel congenital disorder of glycosylation (CDG) type II due to a deep intronic splice mutation in TMEM165. ( 23430531 )
2013
39
Severe, fatal multisystem manifestations in a patient with dolichol kinase-congenital disorder of glycosylation. ( 24144945 )
2013
40
Congenital disorder of glycosylation type Ic: report of a Japanese case. ( 23044053 )
2013
41
Retinal characteristics of the congenital disorder of glycosylation PMM2-CDG. ( 23430200 )
2013
42
Mutations in STT3A and STT3B cause two congenital disorders of glycosylation. ( 23842455 )
2013
43
DDOST mutations identified by whole-exome sequencing are implicated in congenital disorders of glycosylation. ( 22305527 )
2012
44
Mild clinical and biochemical phenotype in two patients with PMM2-CDG (congenital disorder of glycosylation Ia). ( 22012410 )
2012
45
Congenital disorder of glycosylation IIa: the trouble with diagnosing a dysmorphic inborn error of metabolism. ( 22105986 )
2012
46
TMEM165 deficiency causes a congenital disorder of glycosylation. ( 22683087 )
2012
47
Distinct features of congenital disorder of glycosylation type IIx in Kuwait: a case report. ( 21960674 )
2012
48
Identification of intercellular cell adhesion molecule 1 (ICAM-1) as a hypoglycosylation marker in congenital disorders of glycosylation cells. ( 22496445 )
2012
49
Analysis of congenital disorder of glycosylation-Id in a yeast model system shows diverse site-specific under-glycosylation of glycoproteins. ( 23038983 )
2012
50
Congenital disorder of glycosylation: a case presentation. ( 22469962 )
2012
Sources

Variations for Congenital Disorder of Glycosylation, Type in

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UniProtKB/Swiss-Prot genetic disease variations for Congenital Disorder of Glycosylation, Type in:

75
# Symbol AA change Variation ID SNP ID
1 RFT1 p.Arg67Cys VAR_044334 rs118203913
2 RFT1 p.Lys152Glu VAR_062572 rs763862849
3 RFT1 p.Glu298Lys VAR_062573 rs796053521

ClinVar genetic disease variations for Congenital Disorder of Glycosylation, Type in:

6
(show top 50) (show all 2254)
# Gene Variation Type Significance SNP ID Assembly Location
1 RFT1 NM_052859.3(RFT1): c.199C> T (p.Arg67Cys) single nucleotide variant Pathogenic rs118203913 GRCh37 Chromosome 3, 53157807: 53157807
2 RFT1 NM_052859.3(RFT1): c.199C> T (p.Arg67Cys) single nucleotide variant Pathogenic rs118203913 GRCh38 Chromosome 3, 53123791: 53123791
3 ALG1 NM_019109.4(ALG1): c.773C> T (p.Ser258Leu) single nucleotide variant Pathogenic/Likely pathogenic rs28939378 GRCh37 Chromosome 16, 5128790: 5128790
4 ALG1 NM_019109.4(ALG1): c.773C> T (p.Ser258Leu) single nucleotide variant Pathogenic/Likely pathogenic rs28939378 GRCh38 Chromosome 16, 5078789: 5078789
5 PMM2 NM_000303.2(PMM2): c.422G> A (p.Arg141His) single nucleotide variant Pathogenic rs28936415 GRCh37 Chromosome 16, 8905010: 8905010
6 PMM2 NM_000303.2(PMM2): c.422G> A (p.Arg141His) single nucleotide variant Pathogenic rs28936415 GRCh38 Chromosome 16, 8811153: 8811153
7 PMM2 NM_000303.2(PMM2): c.357C> A (p.Phe119Leu) single nucleotide variant Pathogenic rs80338701 GRCh37 Chromosome 16, 8904945: 8904945
8 PMM2 NM_000303.2(PMM2): c.357C> A (p.Phe119Leu) single nucleotide variant Pathogenic rs80338701 GRCh38 Chromosome 16, 8811088: 8811088
9 PMM2 NM_000303.2(PMM2): c.710C> G (p.Thr237Arg) single nucleotide variant Pathogenic/Likely pathogenic rs80338708 GRCh37 Chromosome 16, 8941651: 8941651
10 PMM2 NM_000303.2(PMM2): c.710C> G (p.Thr237Arg) single nucleotide variant Pathogenic/Likely pathogenic rs80338708 GRCh38 Chromosome 16, 8847794: 8847794
11 MPI NM_002435.2(MPI): c.656G> A (p.Arg219Gln) single nucleotide variant Pathogenic/Likely pathogenic rs104894489 GRCh37 Chromosome 15, 75185647: 75185647
12 MPI NM_002435.2(MPI): c.656G> A (p.Arg219Gln) single nucleotide variant Pathogenic/Likely pathogenic rs104894489 GRCh38 Chromosome 15, 74893306: 74893306
13 DNAAF2; MGAT2 NM_018139.2(DNAAF2): c.2303A> G (p.Asp768Gly) single nucleotide variant Benign rs9989177 GRCh37 Chromosome 14, 50092471: 50092471
14 DNAAF2; MGAT2 NM_018139.2(DNAAF2): c.2303A> G (p.Asp768Gly) single nucleotide variant Benign rs9989177 GRCh38 Chromosome 14, 49625753: 49625753
15 DDOST NM_005216.4(DDOST): c.1199C> T (p.Thr400Ile) single nucleotide variant Uncertain significance rs145940009 GRCh37 Chromosome 1, 20979136: 20979136
16 DDOST NM_005216.4(DDOST): c.1199C> T (p.Thr400Ile) single nucleotide variant Uncertain significance rs145940009 GRCh38 Chromosome 1, 20652643: 20652643
17 ALG8 NM_001007027.2(ALG8): c.1316T> C (p.Ile439Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs17825668 GRCh37 Chromosome 11, 77815059: 77815059
18 ALG8 NM_001007027.2(ALG8): c.1316T> C (p.Ile439Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs17825668 GRCh38 Chromosome 11, 78104013: 78104013
19 COG6 NM_020751.2(COG6): c.898C> T (p.His300Tyr) single nucleotide variant Benign/Likely benign rs34555836 GRCh37 Chromosome 13, 40261749: 40261749
20 COG6 NM_020751.2(COG6): c.898C> T (p.His300Tyr) single nucleotide variant Benign/Likely benign rs34555836 GRCh38 Chromosome 13, 39687612: 39687612
21 ALG3 NM_005787.5(ALG3): c.1271C> T (p.Pro424Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs79144888 GRCh37 Chromosome 3, 183960348: 183960348
22 ALG3 NM_005787.5(ALG3): c.1271C> T (p.Pro424Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs79144888 GRCh38 Chromosome 3, 184242560: 184242560
23 ALG2 NM_033087.3(ALG2): c.17G> C (p.Gly6Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs180849348 GRCh37 Chromosome 9, 101984160: 101984160
24 ALG2 NM_033087.3(ALG2): c.17G> C (p.Gly6Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs180849348 GRCh38 Chromosome 9, 99221878: 99221878
25 MPI NM_002435.2(MPI): c.684C> T (p.Asn228=) single nucleotide variant Benign/Likely benign rs139190144 GRCh37 Chromosome 15, 75188506: 75188506
26 MPI NM_002435.2(MPI): c.684C> T (p.Asn228=) single nucleotide variant Benign/Likely benign rs139190144 GRCh38 Chromosome 15, 74896165: 74896165
27 PMM2 NM_000303.2(PMM2): c.470T> C (p.Phe157Ser) single nucleotide variant Pathogenic/Likely pathogenic rs190521996 GRCh38 Chromosome 16, 8811660: 8811660
28 PMM2 NM_000303.2(PMM2): c.470T> C (p.Phe157Ser) single nucleotide variant Pathogenic/Likely pathogenic rs190521996 GRCh37 Chromosome 16, 8905517: 8905517
29 TMEM165 NM_018475.4(TMEM165): c.18A> G (p.Pro6=) single nucleotide variant Benign rs1128141 GRCh37 Chromosome 4, 56262374: 56262374
30 TMEM165 NM_018475.4(TMEM165): c.18A> G (p.Pro6=) single nucleotide variant Benign rs1128141 GRCh38 Chromosome 4, 55396207: 55396207
31 COG6 NM_020751.2(COG6): c.-17dupG duplication Benign/Likely benign rs67765306 GRCh37 Chromosome 13, 40229847: 40229847
32 COG6 NM_020751.2(COG6): c.-17dupG duplication Benign/Likely benign rs67765306 GRCh38 Chromosome 13, 39655710: 39655710
33 COG6 NM_020751.2(COG6): c.28G> A (p.Ala10Thr) single nucleotide variant Benign rs3812882 GRCh37 Chromosome 13, 40229891: 40229891
34 COG6 NM_020751.2(COG6): c.28G> A (p.Ala10Thr) single nucleotide variant Benign rs3812882 GRCh38 Chromosome 13, 39655754: 39655754
35 COG6 NM_020751.2(COG6): c.94T> A (p.Cys32Ser) single nucleotide variant Benign rs3812883 GRCh37 Chromosome 13, 40229957: 40229957
36 COG6 NM_020751.2(COG6): c.94T> A (p.Cys32Ser) single nucleotide variant Benign rs3812883 GRCh38 Chromosome 13, 39655820: 39655820
37 ALG2 NM_033087.3(ALG2): c.84C> G (p.Gly28=) single nucleotide variant Benign/Likely benign rs61744789 GRCh37 Chromosome 9, 101984093: 101984093
38 ALG2 NM_033087.3(ALG2): c.84C> G (p.Gly28=) single nucleotide variant Benign/Likely benign rs61744789 GRCh38 Chromosome 9, 99221811: 99221811
39 COG7 NM_153603.3(COG7): c.2283C> T (p.Thr761=) single nucleotide variant Conflicting interpretations of pathogenicity rs144814374 GRCh37 Chromosome 16, 23400271: 23400271
40 COG7 NM_153603.3(COG7): c.2283C> T (p.Thr761=) single nucleotide variant Conflicting interpretations of pathogenicity rs144814374 GRCh38 Chromosome 16, 23388950: 23388950
41 RFT1 NM_052859.3(RFT1): c.136G> A (p.Val46Ile) single nucleotide variant Uncertain significance rs141174358 GRCh37 Chromosome 3, 53159938: 53159938
42 RFT1 NM_052859.3(RFT1): c.136G> A (p.Val46Ile) single nucleotide variant Uncertain significance rs141174358 GRCh38 Chromosome 3, 53125922: 53125922
43 ALG11 NM_001004127.2(ALG11): c.323A> G (p.Asn108Ser) single nucleotide variant Benign/Likely benign rs17480245 GRCh37 Chromosome 13, 52598189: 52598189
44 ALG11 NM_001004127.2(ALG11): c.323A> G (p.Asn108Ser) single nucleotide variant Benign/Likely benign rs17480245 GRCh38 Chromosome 13, 52024053: 52024053
45 ALG11 NM_001004127.2(ALG11): c.802C> A (p.Leu268Ile) single nucleotide variant Uncertain significance rs148434423 GRCh37 Chromosome 13, 52598668: 52598668
46 ALG11 NM_001004127.2(ALG11): c.802C> A (p.Leu268Ile) single nucleotide variant Uncertain significance rs148434423 GRCh38 Chromosome 13, 52024532: 52024532
47 COG8 NM_032382.4(COG8): c.597C> T (p.Asn199=) single nucleotide variant Conflicting interpretations of pathogenicity rs113642086 GRCh37 Chromosome 16, 69369240: 69369240
48 COG8 NM_032382.4(COG8): c.597C> T (p.Asn199=) single nucleotide variant Conflicting interpretations of pathogenicity rs113642086 GRCh38 Chromosome 16, 69335337: 69335337
49 MOGS NM_006302.2(MOGS): c.2434C> T (p.Arg812Cys) single nucleotide variant Uncertain significance rs368859958 GRCh37 Chromosome 2, 74688482: 74688482
50 MOGS NM_006302.2(MOGS): c.2434C> T (p.Arg812Cys) single nucleotide variant Uncertain significance rs368859958 GRCh38 Chromosome 2, 74461355: 74461355
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Expression for Congenital Disorder of Glycosylation, Type in

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Search GEO for disease gene expression data for Congenital Disorder of Glycosylation, Type in.
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Pathways for Congenital Disorder of Glycosylation, Type in

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Pathways related to Congenital Disorder of Glycosylation, Type in according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Metabolism 66
Show member pathways
 13.78 ALG1 ALG13 ALG2 ALG6 DDOST DPM2
2
Metabolism of proteins 66
Show member pathways
 13.53 ALG1 ALG13 ALG2 ALG6 DDOST DPM2
3
Transport to the Golgi and subsequent modification 66
Show member pathways
 12.66 ALG1 ALG13 ALG2 ALG6 DDOST DPM2
4
Protein processing in endoplasmic reticulum 37
11.83 DDOST SSR4 TUSC3
5
Synthesis of substrates in N-glycan biosythesis 66
Show member pathways
 11.61 ALG1 ALG13 ALG2 ALG6 DPM2 MPDU1
6
N-Glycan biosynthesis 37
Show member pathways
 11.49 ALG1 ALG13 ALG2 ALG6 DDOST DPM2
7
Amino sugar and nucleotide sugar metabolism 37
Show member pathways
 11.38 MPI PGM1 PMM2
8
Miscellaneous transport and binding events 66
10.65 MAGT1 TUSC3
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GO Terms for Congenital Disorder of Glycosylation, Type in

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Cellular components related to Congenital Disorder of Glycosylation, Type in according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.91 CLU HP MPDU1 MPI PGM1 PMM2
2 endoplasmic reticulum GO:0005783 9.81 ALG1 ALG13 ALG6 CLU DDOST DPM2
3 endoplasmic reticulum membrane GO:0005789 9.4 ALG1 ALG13 ALG2 ALG6 DDOST DPM2
4 oligosaccharyltransferase complex GO:0008250 9.13 DDOST MAGT1 TUSC3

Biological processes related to Congenital Disorder of Glycosylation, Type in according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein N-linked glycosylation via asparagine GO:0018279 9.56 DDOST DPM2 MAGT1 TUSC3
2 dolichol-linked oligosaccharide biosynthetic process GO:0006488 9.55 ALG1 ALG13 ALG2 ALG6 MPDU1
3 positive regulation of receptor-mediated endocytosis GO:0048260 9.48 CLU TF
4 magnesium ion transmembrane transport GO:1903830 9.46 MAGT1 TUSC3
5 mannosylation GO:0097502 9.43 ALG1 ALG2
6 protein N-linked glycosylation GO:0006487 9.43 ALG6 DDOST MAGT1 PMM2 TMEM165 TUSC3
7 magnesium ion transport GO:0015693 9.4 MAGT1 TUSC3
8 oligosaccharide-lipid intermediate biosynthetic process GO:0006490 9.37 ALG2 ALG6
9 GDP-mannose biosynthetic process GO:0009298 9.32 MPI PMM2
10 protein glycosylation GO:0006486 9.28 ALG1 ALG2 ALG6 DDOST DPM2 MAGT1

Molecular functions related to Congenital Disorder of Glycosylation, Type in according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 isomerase activity GO:0016853 9.46 MPI PGM1 PMM2 PTGDS
2 transferase activity, transferring glycosyl groups GO:0016757 9.35 ALG1 ALG13 ALG2 ALG6 DDOST
3 magnesium ion transmembrane transporter activity GO:0015095 9.26 MAGT1 TUSC3
4 dolichyl-diphosphooligosaccharide-protein glycotransferase activity GO:0004579 8.8 DDOST MAGT1 TUSC3
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Sources for Congenital Disorder of Glycosylation, Type in

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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