CDG1D
MCID: CNG195
MIFTS: 40

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, Liver diseases, Mental diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Skin diseases, Smell/Taste diseases

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 56 13 71
Alg3-Cdg 58 29 6
Cdg1d 56 58 73
Congenital Disorder of Glycosylation Id 12 15
Congenital Disorder of Glycosylation 1d 12 73
Carbohydrate-Deficient Glycoprotein Syndrome, Type Iv, Formerly; Cdgs4, Formerly 56
Carbohydrate-Deficient Glycoprotein Syndrome, Type Iv, Formerly 56
Carbohydrate Deficient Glycoprotein Syndrome Type Id 58
Carbohydrate-Deficient Glycoprotein Syndrome Type Iv 73
Glycosylation, Congenital Disorder of, Type Id 39
Congenital Disorder of Glycosylation Type 1d 58
Congenital Disorder of Glycosylation Type Id 58
Mannosyltransferase 6 Deficiency 58
Cdgs, Type Iv, Formerly 56
Cdg Syndrome Type Id 58
Cdgs4, Formerly 56
Cdg Id; Cdgid 56
Cdg Id 56
Cdg-Id 58
Cdgid 56
Cdgs4 73

Characteristics:

Orphanet epidemiological data:

58
alg3-cdg
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
congenital disorder of glycosylation, type id:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


Summaries for Congenital Disorder of Glycosylation, Type Id

OMIM : 56 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)

MalaCards based summary : Congenital Disorder of Glycosylation, Type Id, also known as alg3-cdg, is related to congenital disorder of glycosylation, type in and hyperinsulinemic hypoglycemia, and has symptoms including seizures, vomiting and diarrhea. An important gene associated with Congenital Disorder of Glycosylation, Type Id is ALG3 (ALG3 Alpha-1,3- Mannosyltransferase), and among its related pathways/superpathways is Synthesis of substrates in N-glycan biosythesis. Affiliated tissues include liver and eye, and related phenotypes are global developmental delay and muscular hypotonia

Disease Ontology : 12 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.

UniProtKB/Swiss-Prot : 73 Congenital disorder of glycosylation 1D: 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.

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 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 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
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

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

(show all 30)
# Related Disease Score Top Affiliating Genes
1 congenital disorder of glycosylation, type in 29.7 PMM2 ALG3
2 hyperinsulinemic hypoglycemia 29.4 PMM2 ALG3
3 autoimmune disease 10.1
4 macroglossia 10.1
5 chondrodysplasia punctata syndrome 10.1
6 corpus callosum, agenesis of 10.1
7 sensorineural hearing loss 10.1
8 epilepsy 10.1
9 hemangioma 10.1
10 inherited metabolic disorder 10.1
11 hypertonia 10.1
12 primary microcephaly 10.1
13 visual epilepsy 10.1
14 intestinal disaccharidase deficiency 10.1
15 hypotonia 10.1
16 seizure disorder 10.1
17 microcephaly 10.1
18 congenital disorders of n-linked glycosylation and multiple pathway 10.1
19 encephalopathy 10.1
20 dandy-walker syndrome 10.0
21 hypoglycemia 10.0
22 congenital disorder of glycosylation, type iii 9.7 PMM2 ALG3
23 congenital disorder of glycosylation, type iih 9.6 PMM2 ALG3
24 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type i 9.6 PMM2 ALG3
25 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type ii 9.6 PMM2 ALG3
26 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type iii 9.6 PMM2 ALG3
27 congenital disorder of glycosylation, type iia 9.6 PMM2 ALG3
28 immunodeficiency 47 9.5 PMM2 ALG3
29 walker-warburg syndrome 9.4 PMM2 ALG3
30 chronic granulomatous disease 9.2 PMM2 ALG3

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 31 (show all 41)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
2 muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001252
3 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
4 abnormality of vision 58 31 hallmark (90%) Very frequent (99-80%) HP:0000504
5 seizure 31 hallmark (90%) HP:0001250
6 depressed nasal bridge 31 HP:0005280
7 macrotia 31 HP:0000400
8 wide nasal bridge 31 HP:0000431
9 seizures 58 Very frequent (99-80%)
10 optic atrophy 31 HP:0000648
11 hypertonia 31 HP:0001276
12 failure to thrive 31 HP:0001508
13 vomiting 31 HP:0002013
14 strabismus 31 HP:0000486
15 hyperreflexia 31 HP:0001347
16 high palate 31 HP:0000218
17 epicanthus 31 HP:0000286
18 talipes equinovarus 31 HP:0001762
19 iris coloboma 31 HP:0000612
20 abnormality of the eye 58 Very frequent (99-80%)
21 bulbous nose 31 HP:0000414
22 adducted thumb 31 HP:0001181
23 arthrogryposis multiplex congenita 31 HP:0002804
24 nail dysplasia 31 HP:0002164
25 cerebellar atrophy 31 HP:0001272
26 bifid uvula 31 HP:0000193
27 cerebral atrophy 31 HP:0002059
28 diarrhea 31 HP:0002014
29 small nail 31 HP:0001792
30 muscular hypotonia of the trunk 31 HP:0008936
31 long fingers 31 HP:0100807
32 hypsarrhythmia 31 HP:0002521
33 clinodactyly 31 HP:0030084
34 clinodactyly of the 5th toe 31 HP:0001864
35 severely reduced visual acuity 31 HP:0001141
36 joint contracture of the hand 31 HP:0009473
37 villous atrophy 31 HP:0011473
38 food intolerance 31 HP:0012537
39 psychomotor retardation 31 HP:0025356
40 type i transferrin isoform profile 31 HP:0003642
41 decreased light- and dark-adapted electroretinogram amplitude 31 HP:0000654

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
seizures
hyperreflexia
cerebellar atrophy
cerebral atrophy
hypsarrhythmia
more
Head And Neck Eyes:
optic atrophy
strabismus
epicanthus
iris coloboma
severe visual impairment
more
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

Head And Neck Head:
microcephaly

Growth Other:
failure to thrive

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

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


seizures, vomiting, diarrhea

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

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

# Genetic test Affiliating Genes
1 Alg3-Cdg 29 ALG3

Anatomical Context for Congenital Disorder of Glycosylation, Type Id

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

40
Liver, Eye

Publications for Congenital Disorder of Glycosylation, Type Id

Articles related to Congenital Disorder of Glycosylation, Type Id:

(show all 12)
# Title Authors PMID Year
1
Congenital disorder of glycosylation type Id: clinical phenotype, molecular analysis, prenatal diagnosis, and glycosylation of fetal proteins. 61 6 56
16006436 2005
2
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). 61 56 6
15108280 2004
3
CDG-Id in two siblings with partially different phenotypes. 56 6
17551933 2007
4
Congenital disorder of glycosylation id presenting with hyperinsulinemic hypoglycemia and islet cell hyperplasia. 6 56
15840742 2005
5
Carbohydrate deficient glycoprotein syndrome type IV: deficiency of dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase. 6 56
10581255 1999
6
Carbohydrate-deficient glycoprotein syndrome--a fourth subtype. 56 6
8552211 1995
7
Liver involvement in congenital disorders of glycosylation (CDG). A systematic review of the literature. 56
28108845 2017
8
Congenital disorders of N-glycosylation including diseases associated with O- as well as N-glycosylation defects. 56
17065563 2006
9
Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview 6
20301507 2005
10
Congenital disorder of glycosylation type Id (CDG Id): phenotypic, biochemical and molecular characterization of a new patient. 61
18679822 2008
11
CDG-Id caused by homozygosity for an ALG3 mutation due to segmental maternal isodisomy UPD3(q21.3-qter). 61
16053906 2005
12
Three cdg operons control cellular turnover of cyclic di-GMP in Acetobacter xylinum: genetic organization and occurrence of conserved domains in isoenzymes. 61
9721278 1998

Variations for Congenital Disorder of Glycosylation, Type Id

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

6 (show top 50) (show all 56) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ALG3 NM_005787.6(ALG3):c.1263G>A (p.Trp421Ter)SNV Pathogenic 617476 rs1560161567 3:183960356-183960356 3:184242568-184242568
2 ALG3 NM_005787.6(ALG3):c.1037A>G (p.Asn346Ser)SNV Pathogenic 617513 rs1560162116 3:183960718-183960718 3:184242930-184242930
3 ALG3 NM_005787.6(ALG3):c.163_196+3deldeletion Pathogenic 617517 rs1560166870 3:183966530-183966566 3:184248742-184248778
4 ALG3 NM_005787.6(ALG3):c.286G>A (p.Gly96Arg)SNV Pathogenic 617673 rs367679074 3:183963511-183963511 3:184245723-184245723
5 ALG3 NM_005787.6(ALG3):c.350G>C (p.Arg117Pro)SNV Pathogenic 617674 rs370434427 3:183963350-183963350 3:184245562-184245562
6 ALG3 NM_005787.6(ALG3):c.353G>A (p.Gly118Asp)SNV Pathogenic 2127 rs28940588 3:183963347-183963347 3:184245559-184245559
7 ALG3 NM_005787.6(ALG3):c.512G>A (p.Arg171Gln)SNV Pathogenic 2129 rs119103236 3:183963079-183963079 3:184245291-184245291
8 ALG3 NM_005787.6(ALG3):c.211T>C (p.Trp71Arg)SNV Pathogenic 2130 rs119103237 3:183963586-183963586 3:184245798-184245798
9 ALG3 NM_005787.6(ALG3):c.470T>A (p.Met157Lys)SNV Pathogenic 2131 rs119103238 3:183963121-183963121 3:184245333-184245333
10 ALG3 NM_005787.6(ALG3):c.221A>G (p.Tyr74Cys)SNV Likely pathogenic 634991 rs1028791709 3:183963576-183963576 3:184245788-184245788
11 ALG3 NM_005787.6(ALG3):c.296+4A>GSNV Likely pathogenic 617514 rs1560164682 3:183963497-183963497 3:184245709-184245709
12 ALG3 NM_005787.6(ALG3):c.606-10C>TSNV Conflicting interpretations of pathogenicity 710692 3:183962519-183962519 3:184244731-184244731
13 ALG3 NM_005787.6(ALG3):c.777C>T (p.Ser259=)SNV Conflicting interpretations of pathogenicity 344353 rs142901178 3:183961734-183961734 3:184243946-184243946
14 ALG3 NM_005787.6(ALG3):c.1084G>A (p.Val362Ile)SNV Conflicting interpretations of pathogenicity 344348 rs186946267 3:183960671-183960671 3:184242883-184242883
15 ALG3 NM_005787.6(ALG3):c.222C>T (p.Tyr74=)SNV Conflicting interpretations of pathogenicity 344360 rs200875721 3:183963575-183963575 3:184245787-184245787
16 ALG3 NM_005787.6(ALG3):c.933-4C>TSNV Conflicting interpretations of pathogenicity 344350 rs190571910 3:183961422-183961422 3:184243634-184243634
17 ALG3 NM_005787.6(ALG3):c.606-8C>TSNV Conflicting interpretations of pathogenicity 344354 rs368253820 3:183962517-183962517 3:184244729-184244729
18 ALG3 NM_005787.6(ALG3):c.1024C>A (p.Leu342Ile)SNV Conflicting interpretations of pathogenicity 548540 rs568371168 3:183960731-183960731 3:184242943-184242943
19 ALG3 NM_005787.6(ALG3):c.845C>T (p.Ala282Val)SNV Conflicting interpretations of pathogenicity 344352 rs2233466 3:183961666-183961666 3:184243878-184243878
20 ALG3 NM_005787.6(ALG3):c.51A>G (p.Ala17=)SNV Conflicting interpretations of pathogenicity 344361 rs763727038 3:183966678-183966678 3:184248890-184248890
21 ALG3 NM_001006941.2(ALG3):c.52+260G>CSNV Uncertain significance 344364 rs747569137 3:183966754-183966754 3:184248966-184248966
22 ALG3 NM_005787.6(ALG3):c.578G>A (p.Arg193His)SNV Uncertain significance 344356 rs550144109 3:183963013-183963013 3:184245225-184245225
23 ALG3 NM_005787.6(ALG3):c.297-6T>CSNV Uncertain significance 344359 rs371534425 3:183963409-183963409 3:184245621-184245621
24 ALG3 NM_005787.6(ALG3):c.1156T>C (p.Leu386=)SNV Uncertain significance 344346 rs761215928 3:183960463-183960463 3:184242675-184242675
25 ALG3 NM_005787.6(ALG3):c.41C>T (p.Ala14Val)SNV Uncertain significance 344362 rs767695697 3:183966688-183966688 3:184248900-184248900
26 ALG3 NM_005787.6(ALG3):c.19A>C (p.Lys7Gln)SNV Uncertain significance 344363 rs775068875 3:183966710-183966710 3:184248922-184248922
27 ALG3 NM_005787.6(ALG3):c.*65C>TSNV Uncertain significance 344345 rs776636517 3:183960237-183960237 3:184242449-184242449
28 ALG3 NM_005787.6(ALG3):c.985C>T (p.Pro329Ser)SNV Uncertain significance 344349 rs751758378 3:183961366-183961366 3:184243578-184243578
29 ALG3 NM_005787.6(ALG3):c.1146C>T (p.His382=)SNV Uncertain significance 344347 rs370304622 3:183960609-183960609 3:184242821-184242821
30 ALG3 NM_005787.6(ALG3):c.*152C>TSNV Uncertain significance 344344 rs186599528 3:183960150-183960150 3:184242362-184242362
31 ALG3 NM_005787.6(ALG3):c.846G>A (p.Ala282=)SNV Uncertain significance 344351 rs370912574 3:183961665-183961665 3:184243877-184243877
32 ALG3 NM_005787.6(ALG3):c.165C>T (p.Gly55=)SNV Uncertain significance 2128 rs387906273 3:183966564-183966564 3:184248776-184248776
33 ALG3 NM_005787.6(ALG3):c.799C>A (p.Gln267Lys)SNV Uncertain significance 464045 rs528154210 3:183961712-183961712 3:184243924-184243924
34 ALG3 NM_005787.6(ALG3):c.240C>T (p.Gly80=)SNV Uncertain significance 647991 3:183963557-183963557 3:184245769-184245769
35 ALG3 NM_005787.6(ALG3):c.763A>C (p.Ser255Arg)SNV Uncertain significance 849798 3:183961748-183961748 3:184243960-184243960
36 ALG3 NM_005787.6(ALG3):c.*108T>CSNV Uncertain significance 899645 3:183960194-183960194 3:184242406-184242406
37 ALG3 NM_005787.6(ALG3):c.1077G>A (p.Gln359=)SNV Uncertain significance 900788 3:183960678-183960678 3:184242890-184242890
38 ALG3 NM_005787.6(ALG3):c.1015G>A (p.Val339Ile)SNV Uncertain significance 900789 3:183960740-183960740 3:184242952-184242952
39 ALG3 NM_005787.6(ALG3):c.971C>G (p.Ser324Cys)SNV Uncertain significance 900790 3:183961380-183961380 3:184243592-184243592
40 ALG3 NM_005787.6(ALG3):c.778C>T (p.Arg260Cys)SNV Uncertain significance 902453 3:183961733-183961733 3:184243945-184243945
41 ALG3 NM_005787.6(ALG3):c.696C>T (p.Leu232=)SNV Uncertain significance 902454 3:183962419-183962419 3:184244631-184244631
42 ALG3 NM_005787.6(ALG3):c.544C>T (p.Leu182Phe)SNV Uncertain significance 903312 3:183963047-183963047 3:184245259-184245259
43 ALG3 NM_005787.6(ALG3):c.469A>G (p.Met157Val)SNV Uncertain significance 903313 3:183963122-183963122 3:184245334-184245334
44 ALG3 NM_005787.6(ALG3):c.347G>T (p.Ser116Ile)SNV Uncertain significance 903314 3:183963353-183963353 3:184245565-184245565
45 ALG3 NM_005787.6(ALG3):c.304G>T (p.Ala102Ser)SNV Uncertain significance 903315 3:183963396-183963396 3:184245608-184245608
46 ALG3 NM_005787.6(ALG3):c.66G>A (p.Lys22=)SNV Uncertain significance 899709 3:183966663-183966663 3:184248875-184248875
47 ALG3 NM_001006941.2(ALG3):c.52+255G>ASNV Uncertain significance 899710 3:183966759-183966759 3:184248971-184248971
48 ALG3 NM_005787.6(ALG3):c.296+7G>ASNV Uncertain significance 899708 3:183963494-183963494 3:184245706-184245706
49 ALG3 NM_005787.6(ALG3):c.642C>T (p.Phe214=)SNV Likely benign 735950 3:183962473-183962473 3:184244685-184244685
50 ALG3 NM_005787.6(ALG3):c.669C>T (p.Leu223=)SNV Likely benign 382025 rs146607327 3:183962446-183962446 3:184244658-184244658

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

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

# Name GO ID Score Top Affiliating Genes
1 protein glycosylation GO:0006486 8.62 PMM2 ALG3

Sources for Congenital Disorder of Glycosylation, Type Id

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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