CDG1D
MCID: CNG195
MIFTS: 41

Congenital Disorder of Glycosylation, Type Id (CDG1D)

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

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

Name: Congenital Disorder of Glycosylation, Type Id 57 12 5 71
Cdg1d 57 58 73
Congenital Disorder of Glycosylation Id 11 14
Congenital Disorder of Glycosylation 1d 11 73
Carbohydrate-Deficient Glycoprotein Syndrome, Type Iv, Formerly 57
Carbohydrate Deficient Glycoprotein Syndrome Type Id 58
Carbohydrate-Deficient Glycoprotein Syndrome Type Iv 73
Glycosylation, Congenital Disorder of, Type Id 38
Congenital Disorder of Glycosylation Type 1d 58
Congenital Disorder of Glycosylation Type Id 58
Mannosyltransferase 6 Deficiency 58
Cdgs, Type Iv, Formerly 57
Cdg Syndrome Type Id 58
Cdgs4, Formerly 57
Alg3-Cdg 58
Cdg Id 57
Cdg-Id 58
Cdgid 57
Cdgs4 73

Characteristics:


Inheritance:

Congenital Disorder of Glycosylation, Type Id: Autosomal recessive 57
Alg3-Cdg: Autosomal recessive 58

Prevelance:

Alg3-Cdg: <1/1000000 (Worldwide) 58

Age Of Onset:

Alg3-Cdg: Infancy,Neonatal 58

Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


Summaries for Congenital Disorder of Glycosylation, Type Id

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). CDG1D is a type I CDG that generally presents with severe neurologic involvement associated with dysmorphism and visual impairment. Liver involvement is sometimes present (summary by Marques-da-Silva et al., 2017). For a discussion of the classification of CDGs, see CDG1A (212065). (601110) (Updated 08-Dec-2022)

MalaCards based summary: Congenital Disorder of Glycosylation, Type Id, also known as cdg1d, is related to developmental and epileptic encephalopathy 36 and congenital disorder of glycosylation, type in, and has symptoms including vomiting, diarrhea and seizures. An important gene associated with Congenital Disorder of Glycosylation, Type Id is ALG3 (ALG3 Alpha-1,3- Mannosyltransferase). Affiliated tissues include liver, brain and pons, and related phenotypes are abnormal enzyme/coenzyme activity and hypotonia

Orphanet: 58 A form of congenital disorders of N-linked glycosylation characterized by severe neurological involvement, including hypotonia, developmental delay, intellectual disability, postnatal microcephaly, and progressive brain and cerebellar atrophy. Epilepsy with hypsarrythmia is frequently reported. Additional features that may be observed include failure to thrive, arthrogryposis multiplex congenita (AMC), vision impairment (optic atrophy, iris coloboma) and facial dysmorphism (hypertelorism with a broad nasal bridge, large and thick ears, thin lips, micrognathia). The disease is caused by loss of function mutations of the gene ALG3 (3q27.3).

UniProtKB/Swiss-Prot: 73 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.

Disease Ontology: 11 A congenital disorder of glycosylation I that is characterized by severe neurologic involvement associated with dysmorphism and visual impairment and has material basis in homozygous or compound heterozygous mutation in the ALG3 gene on chromosome 3q27.

Related Diseases for Congenital Disorder of Glycosylation, Type Id

Diseases in the Disorder of Multiple Glycosylation 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 Iir 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 Ij Congenital Disorder of Glycosylation, Type Ih
Congenital Disorder of Glycosylation, Type Ik Congenital Disorder of Glycosylation, Type Il
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 in 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, Autosomal Recessive 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
Congenital Disorder of Glycosylation, Type Iit Congenital Disorder of Glycosylation, Type 2v
Congenital Disorder of Glycosylation, Type Iiw Congenital Disorder of Glycosylation, Type Iw, Autosomal Dominant
Congenital Disorder of Glycosylation Iw

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

(show all 27)
# Related Disease Score Top Affiliating Genes
1 developmental and epileptic encephalopathy 36 10.4
2 congenital disorder of glycosylation, type in 10.4
3 microcephaly 10.2
4 congenital disorders of n-linked glycosylation and multiple pathway 10.2
5 encephalopathy 10.2
6 dandy-walker syndrome 10.1
7 hyperinsulinemic hypoglycemia, familial, 2 10.1
8 hyperinsulinemic hypoglycemia 10.1
9 hypoglycemia 10.1
10 autoimmune disease 10.1
11 dilution, pigmentary 10.1
12 macroglossia 10.1
13 optic nerve hypoplasia, bilateral 10.1
14 neural tube defects 10.1
15 chondrodysplasia punctata syndrome 10.1
16 corpus callosum, agenesis of 10.1
17 neural tube defects, folate-sensitive 10.1
18 rapidly involuting congenital hemangioma 10.1
19 sensorineural hearing loss 10.1
20 hypertrophic cardiomyopathy 10.1
21 epilepsy 10.1
22 hemangioma 10.1
23 inherited metabolic disorder 10.1
24 hypertonia 10.1
25 sucrase-isomaltase deficiency, congenital 10.0
26 primary microcephaly 10.0
27 hypotonia 10.0

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



Diseases related to Congenital Disorder of Glycosylation, Type Id

Symptoms & Phenotypes for Congenital Disorder of Glycosylation, Type Id

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

58 30 (show top 50) (show all 77)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal enzyme/coenzyme activity 58 30 Obligate (100%) Obligate (100%)
HP:0012379
2 hypotonia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001252
3 global developmental delay 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001263
4 abnormality of the gastrointestinal tract 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0011024
5 feeding difficulties 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0011968
6 recurrent infections 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002719
7 seizure 58 30 Frequent (33%) Frequent (79-30%)
HP:0001250
8 osteopenia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000938
9 hearing impairment 58 30 Frequent (33%) Frequent (79-30%)
HP:0000365
10 microcephaly 58 30 Frequent (33%) Frequent (79-30%)
HP:0000252
11 abnormality of the endocrine system 58 30 Frequent (33%) Frequent (79-30%)
HP:0000818
12 abnormality of the nose 58 30 Frequent (33%) Frequent (79-30%)
HP:0000366
13 abnormality of the genitourinary system 58 30 Frequent (33%) Frequent (79-30%)
HP:0000119
14 decreased liver function 58 30 Frequent (33%) Frequent (79-30%)
HP:0001410
15 abnormal pinna morphology 30 Frequent (33%) HP:0000377
16 inverted nipples 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003186
17 dystonia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001332
18 spastic tetraparesis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001285
19 abnormality of blood and blood-forming tissues 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001871
20 neural tube defect 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0045005
21 nystagmus 58 30 Very rare (1%) Very rare (<4-1%)
HP:0000639
22 high palate 58 30 Very rare (1%) Very rare (<4-1%)
HP:0000218
23 macroglossia 58 30 Very rare (1%) Very rare (<4-1%)
HP:0000158
24 cataract 58 30 Very rare (1%) Very rare (<4-1%)
HP:0000518
25 lipodystrophy 58 30 Very rare (1%) Very rare (<4-1%)
HP:0009125
26 dandy-walker malformation 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001305
27 arthrogryposis multiplex congenita 58 30 Very rare (1%) Very rare (<4-1%)
HP:0002804
28 hypopigmentation of the skin 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001010
29 cardiomyopathy 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001638
30 pulmonary hypoplasia 58 30 Very rare (1%) Very rare (<4-1%)
HP:0002089
31 hypoplasia of the corpus callosum 58 30 Very rare (1%) Very rare (<4-1%)
HP:0002079
32 hypoplasia of the pons 58 30 Very rare (1%) Very rare (<4-1%)
HP:0012110
33 metaphyseal chondrodysplasia 58 30 Very rare (1%) Very rare (<4-1%)
HP:0005871
34 subcortical cerebral atrophy 58 30 Very rare (1%) Very rare (<4-1%)
HP:0012157
35 coarctation of the descending aortic arch 58 30 Very rare (1%) Very rare (<4-1%)
HP:0012305
36 cerebral white matter atrophy 58 30 Very rare (1%) Very rare (<4-1%)
HP:0012762
37 abnormal uvula morphology 30 Very rare (1%) HP:0000172
38 hypertonia 58 30 Occasional (29-5%)
HP:0001276
39 hyperreflexia 30 HP:0001347
40 failure to thrive 30 HP:0001508
41 depressed nasal bridge 30 HP:0005280
42 macrotia 30 HP:0000400
43 wide nasal bridge 30 HP:0000431
44 optic atrophy 30 HP:0000648
45 vomiting 30 HP:0002013
46 strabismus 30 HP:0000486
47 epicanthus 30 HP:0000286
48 talipes equinovarus 30 HP:0001762
49 iris coloboma 30 HP:0000612
50 abnormality of the eye 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Neurologic Central Nervous System:
hyperreflexia
cerebellar atrophy
psychomotor retardation
cerebral atrophy
hypsarrhythmia
more
Head And Neck Head:
microcephaly

Abdomen Gastrointestinal:
vomiting
diarrhea
food intolerance
duodenal villous atrophy

Head And Neck Mouth:
bifid uvula
high-arched palate

Head And Neck Ears:
large ears

Skeletal Limbs:
contractures

Skin Nails Hair Nails:
small, dysplastic nails

Growth Other:
failure to thrive

Head And Neck Eyes:
optic atrophy
strabismus
epicanthus
iris coloboma
severe visual impairment
more
Head And Neck Nose:
bulbous nose
broad, flat bridge

Skeletal Hands:
long fingers
clinodactyly
adducted thumbs
contractures of the hands

Skeletal Feet:
clubfoot

Skeletal:
arthrogryposis multiplex

Laboratory Abnormalities:
abnormal isoelectric focusing of serum transferrin (type 1 pattern without increase of asialotransferrin)
hypoglycosylation of plasma glycoproteins
dolichyl-p-man:man(5)glcnac(2)-pp-dolichyl mannosyltransferase deficiency

Clinical features from OMIM®:

601110 (Updated 08-Dec-2022)

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


vomiting; diarrhea; seizures

Drugs & Therapeutics for Congenital Disorder of Glycosylation, Type Id

Search Clinical Trials, NIH Clinical Center for Congenital Disorder of Glycosylation, Type Id

Genetic Tests for Congenital Disorder of Glycosylation, Type Id

Anatomical Context for Congenital Disorder of Glycosylation, Type Id

Organs/tissues related to Congenital Disorder of Glycosylation, Type Id:

MalaCards : Liver, Brain, Pons, Skin, Bone, Eye
ODiseA: Brain

Publications for Congenital Disorder of Glycosylation, Type Id

Articles related to Congenital Disorder of Glycosylation, Type Id:

(show all 29)
# Title Authors PMID Year
1
CDG-Id in two siblings with partially different phenotypes. 62 57 5
17551933 2007
2
Congenital disorder of glycosylation type Id: clinical phenotype, molecular analysis, prenatal diagnosis, and glycosylation of fetal proteins. 62 57 5
16006436 2005
3
Congenital disorder of glycosylation id presenting with hyperinsulinemic hypoglycemia and islet cell hyperplasia. 62 57 5
15840742 2005
4
An activated 5' cryptic splice site in the human ALG3 gene generates a premature termination codon insensitive to nonsense-mediated mRNA decay in a new case of congenital disorder of glycosylation type Id (CDG-Id). 62 57 5
15108280 2004
5
Carbohydrate deficient glycoprotein syndrome type IV: deficiency of dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase. 62 57 5
10581255 1999
6
Carbohydrate-deficient glycoprotein syndrome--a fourth subtype. 57 5
8552211 1995
7
Expanding the phenotype, genotype and biochemical knowledge of ALG3-CDG. 62 5
33583022 2021
8
Successful treatment of intractable epilepsy with ketogenic diet therapy in twins with ALG3-CDG. 62 57
32389449 2020
9
Liver involvement in congenital disorders of glycosylation (CDG). A systematic review of the literature. 62 57
28108845 2017
10
Congenital disorders of N-glycosylation including diseases associated with O- as well as N-glycosylation defects. 57
17065563 2006
11
Defective IGF-1 prohormone N-glycosylation and reduced IGF-1 receptor signaling activation in congenital disorders of glycosylation. 62
35211808 2022
12
Skeletal and Bone Mineral Density Features, Genetic Profile in Congenital Disorders of Glycosylation: Review. 62
34441372 2021
13
ALG3-CDG: a patient with novel variants and review of the genetic and ophthalmic findings. 62
34090370 2021
14
Clinical, biochemical and molecular phenotype of congenital disorders of glycosylation: long-term follow-up. 62
33407696 2021
15
ALG3-CDG: lethal phenotype and novel variants in Chinese siblings. 62
32655146 2020
16
Novel variants and clinical symptoms in four new ALG3-CDG patients, review of the literature, and identification of AAGRP-ALG3 as a novel ALG3 variant with alanine and glycine-rich N-terminus. 62
31067009 2019
17
Congenital disorders of glycosylation: The Saudi experience. 62
28742265 2017
18
Phenotypic and genotypic spectrum of congenital disorders of glycosylation type I and type II. 62
28122681 2017
19
Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation. 62
26805780 2016
20
Electroclinical Features of Early-Onset Epileptic Encephalopathies in Congenital Disorders of Glycosylation (CDGs). 62
26453362 2016
21
ALG3-CDG: Report of two siblings with antenatal features carrying homozygous p.Gly96Arg mutation. 62
26126960 2015
22
Congenital disorders of glycosylation with emphasis on cerebellar involvement. 62
25192513 2014
23
ALG3-CDG (CDG-Id): clinical, biochemical and molecular findings in two siblings. 62
23791010 2013
24
Analysis of congenital disorder of glycosylation-Id in a yeast model system shows diverse site-specific under-glycosylation of glycoproteins. 62
23038983 2012
25
Congenital disorder of glycosylation type Id (CDG Id): phenotypic, biochemical and molecular characterization of a new patient. 62
18679822 2008
26
Hydrophobic Man-1-P derivatives correct abnormal glycosylation in Type I congenital disorder of glycosylation fibroblasts. 62
16079417 2005
27
CDG-Id caused by homozygosity for an ALG3 mutation due to segmental maternal isodisomy UPD3(q21.3-qter). 62
16053906 2005
28
DHPLC analysis as a platform for molecular diagnosis of congenital disorders of glycosylation (CDG). 62
12357336 2002
29
Three cdg operons control cellular turnover of cyclic di-GMP in Acetobacter xylinum: genetic organization and occurrence of conserved domains in isoenzymes. 62
9721278 1998

Variations for Congenital Disorder of Glycosylation, Type Id

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

5 (show top 50) (show all 99)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ALG3 NM_005787.6(ALG3):c.211T>C (p.Trp71Arg) SNV Pathogenic
2130 rs119103237 GRCh37: 3:183963586-183963586
GRCh38: 3:184245798-184245798
2 ALG3 NM_005787.6(ALG3):c.470T>A (p.Met157Lys) SNV Pathogenic
2131 rs119103238 GRCh37: 3:183963121-183963121
GRCh38: 3:184245333-184245333
3 ALG3 NM_005787.6(ALG3):c.353G>A (p.Gly118Asp) SNV Pathogenic
2127 rs28940588 GRCh37: 3:183963347-183963347
GRCh38: 3:184245559-184245559
4 ALG3 NM_005787.6(ALG3):c.163_196+3del DEL Pathogenic
617517 rs1560166870 GRCh37: 3:183966530-183966566
GRCh38: 3:184248742-184248778
5 ALG3 NM_005787.6(ALG3):c.286G>A (p.Gly96Arg) SNV Pathogenic
617673 rs367679074 GRCh37: 3:183963511-183963511
GRCh38: 3:184245723-184245723
6 ALG3 NM_005787.6(ALG3):c.350G>C (p.Arg117Pro) SNV Pathogenic
617674 rs370434427 GRCh37: 3:183963350-183963350
GRCh38: 3:184245562-184245562
7 ALG3 NM_005787.6(ALG3):c.1263G>A (p.Trp421Ter) SNV Pathogenic
617476 rs1560161567 GRCh37: 3:183960356-183960356
GRCh38: 3:184242568-184242568
8 ALG3 NM_005787.6(ALG3):c.1037A>G (p.Asn346Ser) SNV Pathogenic
617513 rs1560162116 GRCh37: 3:183960718-183960718
GRCh38: 3:184242930-184242930
9 ALG3 NM_005787.6(ALG3):c.72G>A (p.Trp24Ter) SNV Pathogenic
1172674 GRCh37: 3:183966657-183966657
GRCh38: 3:184248869-184248869
10 ALG3 NM_005787.6(ALG3):c.656T>C (p.Leu219Pro) SNV Pathogenic
1184846 GRCh37: 3:183962459-183962459
GRCh38: 3:184244671-184244671
11 ALG3 NM_005787.6(ALG3):c.749T>A (p.Leu250Gln) SNV Pathogenic
1184847 GRCh37: 3:183961762-183961762
GRCh38: 3:184243974-184243974
12 ALG3 NM_005787.6(ALG3):c.796C>T (p.Arg266Cys) SNV Pathogenic
1184848 GRCh37: 3:183961715-183961715
GRCh38: 3:184243927-184243927
13 ALG3 NM_005787.6(ALG3):c.991C>T (p.Gln331Ter) SNV Pathogenic
521583 rs1553827968 GRCh37: 3:183961360-183961360
GRCh38: 3:184243572-184243572
14 ALG3 NM_005787.6(ALG3):c.914C>A (p.Ala305Asp) SNV Pathogenic
521582 rs373514167 GRCh37: 3:183961597-183961597
GRCh38: 3:184243809-184243809
15 ALG3 NM_005787.6(ALG3):c.611C>T (p.Ala204Val) SNV Pathogenic
1184849 GRCh37: 3:183962504-183962504
GRCh38: 3:184244716-184244716
16 ALG3 NM_005787.6(ALG3):c.1154G>C (p.Arg385Thr) SNV Pathogenic
1184850 GRCh37: 3:183960601-183960601
GRCh38: 3:184242813-184242813
17 ALG3 NM_005787.6(ALG3):c.395A>G (p.Tyr132Cys) SNV Pathogenic
427138 rs1085307981 GRCh37: 3:183963305-183963305
GRCh38: 3:184245517-184245517
18 ALG3 NM_005787.6(ALG3):c.752T>C (p.Leu251Pro) SNV Pathogenic
427137 rs1085307980 GRCh37: 3:183961759-183961759
GRCh38: 3:184243971-184243971
19 ALG3 NM_005787.6(ALG3):c.512G>A (p.Arg171Gln) SNV Pathogenic/Likely Pathogenic
2129 rs119103236 GRCh37: 3:183963079-183963079
GRCh38: 3:184245291-184245291
20 ALG3 NM_005787.6(ALG3):c.296+4A>G SNV Likely Pathogenic
617514 rs1560164682 GRCh37: 3:183963497-183963497
GRCh38: 3:184245709-184245709
21 ALG3 NM_005787.6(ALG3):c.221A>G (p.Tyr74Cys) SNV Likely Pathogenic
634991 rs1028791709 GRCh37: 3:183963576-183963576
GRCh38: 3:184245788-184245788
22 ALG3 NM_005787.6(ALG3):c.410_411insTGTCTTCTTGCT (p.Leu137_Leu138insValPheLeuLeu) INSERT Likely Pathogenic
1184852 GRCh37: 3:183963289-183963290
GRCh38: 3:184245501-184245502
23 ALG3 NM_005787.6(ALG3):c.647del (p.Pro216fs) DEL Likely Pathogenic
1323879 GRCh37: 3:183962468-183962468
GRCh38: 3:184244680-184244680
24 ALG3 NM_005787.6(ALG3):c.521A>G (p.Asn174Ser) SNV Likely Pathogenic
1184851 GRCh37: 3:183963070-183963070
GRCh38: 3:184245282-184245282
25 ALG3 NM_005787.6(ALG3):c.444+2T>G SNV Likely Pathogenic
930451 rs1719083745 GRCh37: 3:183963254-183963254
GRCh38: 3:184245466-184245466
26 ALG3 NM_005787.6(ALG3):c.845C>T (p.Ala282Val) SNV Conflicting Interpretations Of Pathogenicity
344352 rs2233466 GRCh37: 3:183961666-183961666
GRCh38: 3:184243878-184243878
27 ALG3 NM_005787.6(ALG3):c.165C>T (p.Gly55=) SNV Conflicting Interpretations Of Pathogenicity
2128 rs387906273 GRCh37: 3:183966564-183966564
GRCh38: 3:184248776-184248776
28 ALG3 NM_005787.6(ALG3):c.606-8C>T SNV Conflicting Interpretations Of Pathogenicity
344354 rs368253820 GRCh37: 3:183962517-183962517
GRCh38: 3:184244729-184244729
29 ALG3 NM_005787.6(ALG3):c.222C>T (p.Tyr74=) SNV Conflicting Interpretations Of Pathogenicity
344360 rs200875721 GRCh37: 3:183963575-183963575
GRCh38: 3:184245787-184245787
30 ALG3 NM_005787.6(ALG3):c.696C>T (p.Leu232=) SNV Conflicting Interpretations Of Pathogenicity
902454 rs1174962210 GRCh37: 3:183962419-183962419
GRCh38: 3:184244631-184244631
31 ALG3 NM_005787.6(ALG3):c.606-10C>T SNV Conflicting Interpretations Of Pathogenicity
710692 rs372141050 GRCh37: 3:183962519-183962519
GRCh38: 3:184244731-184244731
32 ALG3 NM_005787.6(ALG3):c.933-4C>T SNV Conflicting Interpretations Of Pathogenicity
344350 rs190571910 GRCh37: 3:183961422-183961422
GRCh38: 3:184243634-184243634
33 ALG3 NM_005787.6(ALG3):c.1084G>A (p.Val362Ile) SNV Conflicting Interpretations Of Pathogenicity
344348 rs186946267 GRCh37: 3:183960671-183960671
GRCh38: 3:184242883-184242883
34 ALG3 NM_005787.6(ALG3):c.51A>G (p.Ala17=) SNV Conflicting Interpretations Of Pathogenicity
344361 rs763727038 GRCh37: 3:183966678-183966678
GRCh38: 3:184248890-184248890
35 ALG3 NM_005787.5(ALG3):c.-26G>C SNV Uncertain Significance
344364 rs747569137 GRCh37: 3:183966754-183966754
GRCh38: 3:184248966-184248966
36 ALG3 NM_005787.5(ALG3):c.-31G>A SNV Uncertain Significance
899710 rs758955754 GRCh37: 3:183966759-183966759
GRCh38: 3:184248971-184248971
37 ALG3 NM_001006941.2(ALG3):c.46G>T (p.Gly16Trp) SNV Uncertain Significance
1033185 rs373046727 GRCh37: 3:183967020-183967020
GRCh38: 3:184249232-184249232
38 ALG3 NM_005787.6(ALG3):c.101T>C (p.Leu34Pro) SNV Uncertain Significance
1716901 GRCh37: 3:183966628-183966628
GRCh38: 3:184248840-184248840
39 ALG3 NM_005787.6(ALG3):c.763A>C (p.Ser255Arg) SNV Uncertain Significance
849798 rs1718985510 GRCh37: 3:183961748-183961748
GRCh38: 3:184243960-184243960
40 ALG3 NM_005787.6(ALG3):c.544C>T (p.Leu182Phe) SNV Uncertain Significance
903312 rs1719066241 GRCh37: 3:183963047-183963047
GRCh38: 3:184245259-184245259
41 ALG3 NM_005787.6(ALG3):c.469A>G (p.Met157Val) SNV Uncertain Significance
903313 rs1404929213 GRCh37: 3:183963122-183963122
GRCh38: 3:184245334-184245334
42 ALG3 NM_005787.6(ALG3):c.347G>T (p.Ser116Ile) SNV Uncertain Significance
903314 rs562487441 GRCh37: 3:183963353-183963353
GRCh38: 3:184245565-184245565
43 ALG3 NM_005787.6(ALG3):c.304G>T (p.Ala102Ser) SNV Uncertain Significance
903315 rs1719101179 GRCh37: 3:183963396-183963396
GRCh38: 3:184245608-184245608
44 ALG3 NM_005787.6(ALG3):c.1146C>T (p.His382=) SNV Uncertain Significance
344347 rs370304622 GRCh37: 3:183960609-183960609
GRCh38: 3:184242821-184242821
45 ALG3 NM_005787.6(ALG3):c.240C>T (p.Gly80=) SNV Uncertain Significance
647991 rs756013928 GRCh37: 3:183963557-183963557
GRCh38: 3:184245769-184245769
46 ALG3 NM_005787.6(ALG3):c.1156T>C (p.Leu386=) SNV Uncertain Significance
344346 rs761215928 GRCh37: 3:183960463-183960463
GRCh38: 3:184242675-184242675
47 ALG3 NM_005787.6(ALG3):c.19A>C (p.Lys7Gln) SNV Uncertain Significance
344363 rs775068875 GRCh37: 3:183966710-183966710
GRCh38: 3:184248922-184248922
48 ALG3 NM_005787.6(ALG3):c.*65C>T SNV Uncertain Significance
344345 rs776636517 GRCh37: 3:183960237-183960237
GRCh38: 3:184242449-184242449
49 ALG3 NM_005787.6(ALG3):c.985C>T (p.Pro329Ser) SNV Uncertain Significance
344349 rs751758378 GRCh37: 3:183961366-183961366
GRCh38: 3:184243578-184243578
50 ALG3 NM_005787.6(ALG3):c.777C>T (p.Ser259=) SNV Uncertain Significance
344353 rs142901178 GRCh37: 3:183961734-183961734
GRCh38: 3:184243946-184243946

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

73
# Symbol AA change Variation ID SNP ID
1 ALG3 p.Gly118Asp VAR_010306 rs28940588
2 ALG3 p.Arg171Gln VAR_037806 rs119103236

Expression for Congenital Disorder of Glycosylation, Type Id

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

Pathways for Congenital Disorder of Glycosylation, Type Id

GO Terms for Congenital Disorder of Glycosylation, Type Id

Sources for Congenital Disorder of Glycosylation, Type Id

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
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43 MeSH
44 MESH via Orphanet
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56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
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64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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