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CDG1N
MCID: CNG411
MIFTS: 66

Congenital Disorder of Glycosylation, Type in (CDG1N)

Categories: Blood diseases, Bone diseases, Cardiovascular diseases, Ear diseases, Endocrine diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Liver diseases, Mental diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Skin 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
Glycosylation, Congenital Disorder of 40
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 Eye diseases Blood diseases Gastrointestinal diseases Nephrological diseases Bone diseases Endocrine diseases Mental diseases Immune diseases Muscle 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 ii and congenital disorder of glycosylation, type iid, and has symptoms including seizures, ataxia 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. Affiliated tissues include liver, eye and heart, 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 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 top 50) (show all 149)
# Related Disease Score Top Affiliating Genes
1 congenital disorder of glycosylation, type ii 34.6 ALG2 PMM2 SLC35C1 TF TMEM165
2 congenital disorder of glycosylation, type iid 34.5 ALG2 MPI PMM2 TF
3 congenital disorder of glycosylation, type iia 34.5 ALG2 MPI PMM2 TF
4 congenital disorder of glycosylation, type ia 34.5 CLU HP PMM2 TF
5 congenital disorder of glycosylation, type iih 34.4 ALG2 TF
6 congenital disorder of glycosylation, type iim 34.4 ALG2 PGM1 PMM2 TF
7 congenital disorder of glycosylation, type iii 34.4 ALG2 PMM2 TF
8 congenital disorder of glycosylation, type iik 34.3 PGM1 PMM2 SLC35C1 TF TMEM165
9 congenital disorder of glycosylation, type iif 34.3 ALG2 PGM1 PMM2 TF
10 epileptic encephalopathy, early infantile, 36 33.8 ALG1 ALG13 ALG2 ALG6 DPM2 MPI
11 multiple congenital anomalies-hypotonia-seizures syndrome 3 32.2 PMM2 TF
12 protein-losing enteropathy 30.3 ALG6 MPI
13 congenital disorder of glycosylation, type ie 12.7
14 congenital disorder of glycosylation, type if 12.7
15 congenital disorder of glycosylation, type id 12.7
16 congenital disorder of glycosylation, type ic 12.7
17 congenital disorder of glycosylation, type ij 12.7
18 congenital disorder of glycosylation, type ih 12.7
19 congenital disorder of glycosylation, type im 12.7
20 congenital disorder of glycosylation, type ik 12.7
21 congenital disorder of glycosylation, type ig 12.7
22 congenital disorder of glycosylation, type ix 12.7
23 congenital disorder of glycosylation, type il 12.6
24 congenital disorder of glycosylation, type iip 12.6
25 congenital disorder of glycosylation with defective fucosylation 12.6
26 congenital disorder of glycosylation, type iio 12.6
27 congenital disorder of glycosylation, type iij 12.6
28 congenital disorder of glycosylation, type iil 12.6
29 congenital disorder of glycosylation, type iic 12.6
30 congenital disorder of glycosylation, type iin 12.6
31 congenital disorder of glycosylation, type ip 12.6
32 congenital disorder of glycosylation, type ir 12.6
33 congenital disorder of glycosylation, type iiq 12.6
34 congenital disorder of glycosylation, type iib 12.6
35 dolk-congenital disorder of glycosylation 12.6
36 congenital disorder of glycosylation, type iig 12.6
37 congenital disorder of glycosylation, type iw 12.6
38 congenital disorder of glycosylation, type iu 12.6
39 congenital disorder of glycosylation, type it 12.6
40 congenital disorder of glycosylation, type i/iix 12.6
41 congenital disorder of glycosylation, type iy 12.5
42 congenital disorder of glycosylation, type iq 12.5
43 congenital disorder of glycosylation, type iaa 12.5
44 congenital disorder of glycosylation with developmental anomaly 12.2
45 muscular dystrophy-dystroglycanopathy , type c, 15 12.1
46 alg12-congenital disorder of glycosylation 12.0
47 dhdds-cdg 12.0
48 congenital disorder of deglycosylation 11.9
49 retinitis pigmentosa 59 11.9
50 alg1-congenital disorder of glycosylation 11.9

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

About this section

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 Eyes:
decreased visual acuity
lack of eye contact

Head And Neck Ears:
sensorineural deafness

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

Skeletal Hands:
adducted thumbs

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 cardiomyopathy 32 frequent (33%) HP:0001638
41 reduced visual acuity 32 HP:0007663
42 abnormality of immune system physiology 32 hallmark (90%) HP:0010978
43 aplasia/hypoplasia of the cerebellum 32 hallmark (90%) HP:0007360
44 broad forehead 32 frequent (33%) HP:0000337
45 hypergonadotropic hypogonadism 32 frequent (33%) HP:0000815
46 adducted thumb 32 HP:0001181
47 generalized hypotonia 32 HP:0001290
48 cerebral atrophy 59 Occasional (29-5%)
49 abnormal subcutaneous fat tissue distribution 32 hallmark (90%) HP:0007552
50 abnormality of the coagulation cascade 32 HP:0003256

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


seizures, ataxia, myoclonus, muscle spasticity

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 ALG1 ALG13 ALG2 ALG6 CLU DDOST
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
Sources

Drugs & Therapeutics for Congenital Disorder of Glycosylation, Type in

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Search Clinical Trials , 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

About this section

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

41
Liver, Eye, Heart, Bone, Skin, Cerebellum, Kidney
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 195)
# Title Authors Year
1
Early-onset retinal dystrophy and chronic dermatitis in a girl with an undiagnosed congenital disorder of glycosylation (SRD5A3-CDG). ( 30019980 )
2018
2
Yeast Models Of Phosphomannomutase 2 Deficiency, A Congenital Disorder Of Glycosylation. ( 30530630 )
2018
3
An Unexplained Congenital Disorder of Glycosylation-II in a Child with Neurohepatic Involvement, Hypercholesterolemia and Hypoceruloplasminemia. ( 28643274 )
2018
4
Biallelic Mutations in FUT8 Cause a Congenital Disorder of Glycosylation with Defective Fucosylation. ( 29304374 )
2018
5
Atrial septal defect in a patient with congenital disorder of glycosylation type 1a: a case report. ( 29361989 )
2018
6
Clinical Utility Gene Card For: GALNT3 defective congenital disorder of glycosylation. ( 29681618 )
2018
7
Mosaicism of the UDP-Galactose transporter SLC35A2 in a female causing a congenital disorder of glycosylation: a case report. ( 29907092 )
2018
8
Identification of a case of SRD5A3-congenital disorder of glycosylation (CDG1Q) by exome sequencing. ( 29998879 )
2018
9
SLC35A2-related congenital disorder of glycosylation: Defining the phenotype. ( 30194038 )
2018
10
Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation. ( 30503518 )
2018
11
Association of Steroid 5I+-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy. ( 28253385 )
2017
12
Expanding the phenotype of phosphomannomutase-2 gene congenital disorder of glycosylation: Cervical dystonia. ( 28566178 )
2017
13
Mutations in TRAPPC11 are associated with a congenital disorder of glycosylation. ( 27862579 )
2017
14
Phenotypic Heterogeneity in a Congenital Disorder of Glycosylation Caused by Mutations in STT3A. ( 28424003 )
2017
15
Clinical utility gene card for: B4GALT7-defective congenital disorder of glycosylation. ( 27827381 )
2017
16
Providing Palliative Care in Rare Pediatric Diseases: A Case Series of Three Children with Congenital Disorder of Glycosylation. ( 27923105 )
2017
17
Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature. ( 28954837 )
2017
18
Anesthetic management of a child with phosphomannomutase-2 congenital disorder of glycosylation (PMM2-CDG). ( 29492447 )
2017
19
Skeletal dysplasia as the presenting feature of a congenital disorder of glycosylation. ( 27773000 )
2016
20
A mouse model of a human congenital disorder of glycosylation caused by loss of PMM2. ( 27053713 )
2016
21
SRD5A3-CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features. ( 27480077 )
2016
22
Clinical utility gene card for: MAN1B1 defective congenital disorder of glycosylation. ( 26577042 )
2016
23
RFT1-congenital disorder of glycosylation (CDG) syndrome: a cause of early-onset severe epilepsy. ( 26892341 )
2016
24
Congenital nephrotic syndrome in an infant with ALG1-congenital disorder of glycosylation. ( 27325525 )
2016
25
Phenotypic Expansion of Congenital Disorder of Glycosylation Due to SRD5A3 Null Mutation. ( 26219881 )
2016
26
Glycomic Characterization of Induced Pluripotent Stem Cells Derived from a Patient Suffering from Phosphomannomutase 2 Congenital Disorder of Glycosylation (PMM2-CDG). ( 26785728 )
2016
27
Mass spectrometry of transferrin and apolipoprotein C-III for diagnosis and screening of congenital disorder of glycosylation. ( 26873821 )
2016
28
Synaptic roles for phosphomannomutase type 2 in a new Drosophila congenital disorder of glycosylation disease model. ( 26940433 )
2016
29
Heart transplantation in a child with congenital disorder of glycosylation. ( 27329399 )
2016
30
Glycosylation site occupancy in health, congenital disorder of glycosylation and fatty liver disease. ( 27725718 )
2016
31
Fetal akinesia deformation sequence due to a congenital disorder of glycosylation. ( 26033833 )
2015
32
Clinical utility gene card for: ALG1 defective congenital disorder of glycosylation. ( 25649379 )
2015
33
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
34
Congenital Disorder of Glycosylation (CDG) Presenting as Non-immune Hydrops Fetalis. ( 26365158 )
2015
35
A case with rare type of congenital disorder of glycosylation: PGM1-CDG. ( 26043514 )
2015
36
Clinical utility gene card for: DPAGT1 defective congenital disorder of glycosylation. ( 26242989 )
2015
37
Mutation of Nogo-B receptor, a subunit of cis-prenyltransferase, causes a congenital disorder of glycosylation. ( 25066056 )
2014
38
PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia. ( 24931394 )
2014
39
Clinical and pathological heterogeneity of a congenital disorder of glycosylation manifesting as a myasthenic/myopathic syndrome. ( 24461433 )
2014
40
A case of congenital disorder of glycosylation ia presented with recurrent pericardial effusion. ( 25793077 )
2014
41
29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype. ( 25497157 )
2014
42
Clinical utility gene card for: ALG6 defective congenital disorder of glycosylation. ( 25052310 )
2014
43
Mutations in COG2 encoding a subunit of the conserved oligomeric golgi complex cause a congenital disorder of glycosylation. ( 24784932 )
2014
44
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
45
Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy. ( 23856421 )
2013
46
Subcutaneous fat pads on body MRI - an early sign of congenital disorder of glycosylation PMM2-CDG (CDG1a). ( 24037084 )
2013
47
Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation. ( 23561849 )
2013
48
A novel congenital disorder of glycosylation type without central nervous system involvement caused by mutations in the phosphoglucomutase 1 gene. ( 22976764 )
2013
49
Mass spectrometric analysis of neutral and anionic N-glycans from a Dictyostelium discoideum model for human congenital disorder of glycosylation CDG IL. ( 23320427 )
2013
50
A new congenital disorder of glycosylation caused by a mutation in SSR4, the signal sequence receptor 4 protein of the TRAP complex. ( 24218363 )
2013
Sources

Variations for Congenital Disorder of Glycosylation, Type in

About this section

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 2394)
# 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 ALG11; ATP7B NM_000053.3(ATP7B): c.-123_-119dupCGCCG duplication Conflicting interpretations of pathogenicity rs148013251 GRCh37 Chromosome 13, 52585592: 52585596
14 ALG11; ATP7B NM_000053.3(ATP7B): c.-123_-119dupCGCCG duplication Conflicting interpretations of pathogenicity rs148013251 GRCh38 Chromosome 13, 52011456: 52011460
15 PMM2 NM_000303.2(PMM2): c.590A> C (p.Glu197Ala) single nucleotide variant Benign/Likely benign rs34258285 GRCh37 Chromosome 16, 8906914: 8906914
16 PMM2 NM_000303.2(PMM2): c.590A> C (p.Glu197Ala) single nucleotide variant Benign/Likely benign rs34258285 GRCh38 Chromosome 16, 8813057: 8813057
17 DPAGT1; HMBS NM_001382.3(DPAGT1): c.1177A> G (p.Ile393Val) single nucleotide variant Benign rs643788 GRCh37 Chromosome 11, 118967758: 118967758
18 DPAGT1; HMBS NM_001382.3(DPAGT1): c.1177A> G (p.Ile393Val) single nucleotide variant Benign rs643788 GRCh38 Chromosome 11, 119097048: 119097048
19 B4GALT1 NM_001497.3(B4GALT1): c.597C> T (p.His199=) single nucleotide variant Benign/Likely benign rs1065765 GRCh37 Chromosome 9, 33135238: 33135238
20 B4GALT1 NM_001497.3(B4GALT1): c.597C> T (p.His199=) single nucleotide variant Benign/Likely benign rs1065765 GRCh38 Chromosome 9, 33135240: 33135240
21 MPI NM_002435.2(MPI): c.1049C> T (p.Thr350Met) single nucleotide variant Conflicting interpretations of pathogenicity rs116933453 GRCh37 Chromosome 15, 75189556: 75189556
22 MPI NM_002435.2(MPI): c.1049C> T (p.Thr350Met) single nucleotide variant Conflicting interpretations of pathogenicity rs116933453 GRCh38 Chromosome 15, 74897215: 74897215
23 MPI NM_002435.2(MPI): c.1131A> G (p.Val377=) single nucleotide variant Benign rs1130741 GRCh37 Chromosome 15, 75189930: 75189930
24 MPI NM_002435.2(MPI): c.1131A> G (p.Val377=) single nucleotide variant Benign rs1130741 GRCh38 Chromosome 15, 74897589: 74897589
25 MPI NM_002435.2(MPI): c.345+15G> A single nucleotide variant Benign rs11638130 GRCh37 Chromosome 15, 75183935: 75183935
26 MPI NM_002435.2(MPI): c.345+15G> A single nucleotide variant Benign rs11638130 GRCh38 Chromosome 15, 74891594: 74891594
27 MPI NM_002435.2(MPI): c.670+9A> G single nucleotide variant Benign rs7495739 GRCh37 Chromosome 15, 75185670: 75185670
28 MPI NM_002435.2(MPI): c.670+9A> G single nucleotide variant Benign rs7495739 GRCh38 Chromosome 15, 74893329: 74893329
29 MPI NM_002435.2(MPI): c.678C> A (p.Ala226=) single nucleotide variant Uncertain significance rs199972529 GRCh37 Chromosome 15, 75188500: 75188500
30 MPI NM_002435.2(MPI): c.678C> A (p.Ala226=) single nucleotide variant Uncertain significance rs199972529 GRCh38 Chromosome 15, 74896159: 74896159
31 MPI NM_002435.2(MPI): c.762C> T (p.Ile254=) single nucleotide variant Benign/Likely benign rs12440159 GRCh37 Chromosome 15, 75188584: 75188584
32 MPI NM_002435.2(MPI): c.762C> T (p.Ile254=) single nucleotide variant Benign/Likely benign rs12440159 GRCh38 Chromosome 15, 74896243: 74896243
33 MPI NM_002435.2(MPI): c.982C> T (p.Arg328Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs117089191 GRCh37 Chromosome 15, 75189489: 75189489
34 MPI NM_002435.2(MPI): c.982C> T (p.Arg328Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs117089191 GRCh38 Chromosome 15, 74897148: 74897148
35 DPM1 NM_003859.2(DPM1): c.679-7A> T single nucleotide variant Benign/Likely benign rs60224379 GRCh37 Chromosome 20, 49551780: 49551780
36 DPM1 NM_003859.2(DPM1): c.679-7A> T single nucleotide variant Benign/Likely benign rs60224379 GRCh38 Chromosome 20, 50935243: 50935243
37 MPDU1 NM_004870.3(MPDU1): c.403G> C (p.Ala135Pro) single nucleotide variant Benign/Likely benign rs137983973 GRCh37 Chromosome 17, 7490231: 7490231
38 MPDU1 NM_004870.3(MPDU1): c.403G> C (p.Ala135Pro) single nucleotide variant Benign/Likely benign rs137983973 GRCh38 Chromosome 17, 7586913: 7586913
39 MPDU1 NM_004870.3(MPDU1): c.685G> A (p.Ala229Thr) single nucleotide variant Benign/Likely benign rs10852891 GRCh37 Chromosome 17, 7490810: 7490810
40 MPDU1 NM_004870.3(MPDU1): c.685G> A (p.Ala229Thr) single nucleotide variant Benign/Likely benign rs10852891 GRCh38 Chromosome 17, 7587492: 7587492
41 MOGS NM_006302.2(MOGS): c.1838G> A (p.Arg613Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs142032474 GRCh37 Chromosome 2, 74689078: 74689078
42 MOGS NM_006302.2(MOGS): c.1838G> A (p.Arg613Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs142032474 GRCh38 Chromosome 2, 74461951: 74461951
43 MOGS NM_006302.2(MOGS): c.184G> A (p.Val62Met) single nucleotide variant Benign/Likely benign rs79181168 GRCh37 Chromosome 2, 74692191: 74692191
44 MOGS NM_006302.2(MOGS): c.184G> A (p.Val62Met) single nucleotide variant Benign/Likely benign rs79181168 GRCh38 Chromosome 2, 74465064: 74465064
45 MOGS NM_006302.2(MOGS): c.715G> A (p.Asp239Asn) single nucleotide variant Benign rs1063588 GRCh37 Chromosome 2, 74690378: 74690378
46 MOGS NM_006302.2(MOGS): c.715G> A (p.Asp239Asn) single nucleotide variant Benign rs1063588 GRCh38 Chromosome 2, 74463251: 74463251
47 MOGS NM_006302.2(MOGS): c.877C> T (p.Pro293Ser) single nucleotide variant Benign rs2268416 GRCh37 Chromosome 2, 74690039: 74690039
48 MOGS NM_006302.2(MOGS): c.877C> T (p.Pro293Ser) single nucleotide variant Benign rs2268416 GRCh38 Chromosome 2, 74462912: 74462912
49 COG5 NM_006348.3(COG5): c.988T> C (p.Phe330Leu) single nucleotide variant Benign rs2269970 GRCh37 Chromosome 7, 107002806: 107002806
50 COG5 NM_006348.3(COG5): c.988T> C (p.Phe330Leu) single nucleotide variant Benign rs2269970 GRCh38 Chromosome 7, 107362361: 107362361
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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
 12.33 ALG1 ALG13 ALG2 ALG6 DDOST DPM2
4
Synthesis of substrates in N-glycan biosythesis 66
Show member pathways
 11.9 ALG1 ALG13 ALG2 ALG6 DPM2 MPI
5
Protein processing in endoplasmic reticulum 37
11.83 DDOST SSR4 TUSC3
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 9.86 CLU HP MPI PGM1 PTGDS SSR4
2 endoplasmic reticulum GO:0005783 9.81 ALG1 ALG13 ALG6 CLU DDOST DPM2
3 blood microparticle GO:0072562 9.5 CLU HP TF
4 endoplasmic reticulum membrane GO:0005789 9.36 ALG1 ALG13 ALG2 ALG6 DDOST DPM2
5 oligosaccharyltransferase complex GO:0008250 9.13 DDOST MAGT1 TUSC3
6 integral component of membrane GO:0016021 10.15 ALG1 ALG2 ALG6 DDOST DPM2 MAGT1

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

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

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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