CDG1G
MCID: CNG194
MIFTS: 46

Congenital Disorder of Glycosylation, Type Ig (CDG1G)

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 Ig

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

Name: Congenital Disorder of Glycosylation, Type Ig 57 12
Alg12-Congenital Disorder of Glycosylation 11 42 28 5
Cdg1g 57 42 58 73
Congenital Disorder of Glycosylation Type 1g 42 58 71
Congenital Disorder of Glycosylation Type Ig 42 58 73
Cdg Ig 57 42 73
Congenital Disorder of Glycosylation Ig 11 14
Congenital Disorder of Glycosylation 1g 11 73
Cdg-Ig 58 73
Cdgig 57 73
Carbohydrate Deficient Glycoprotein Syndrome Type Ig 58
Glycosylation, Congenital Disorder of, Type Ig 38
Mannosyltransferase 8 Deficiency 58
Cdg Syndrome Type Ig 58
Alg12-Cdg 58

Characteristics:


Inheritance:

Congenital Disorder of Glycosylation, Type Ig: Autosomal recessive 57
Alg12-Cdg: Autosomal recessive 58

Prevelance:

Alg12-Cdg: <1/1000000 (Worldwide) 58

Age Of Onset:

Alg12-Cdg: Infancy,Neonatal 58

OMIM®:

57 (Updated 24-Oct-2022)
Miscellaneous:
variable features may be present
death in neonatal period or infancy


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


Summaries for Congenital Disorder of Glycosylation, Type Ig

MedlinePlus Genetics: 42 ALG12-congenital disorder of glycosylation (ALG12-CDG, also known as congenital disorder of glycosylation type Ig) is an inherited disorder with varying signs and symptoms that can affect several body systems. Individuals with ALG12-CDG typically develop signs and symptoms of the condition during infancy. They may have problems feeding and difficulty growing and gaining weight at the expected rate (failure to thrive). In addition, affected individuals often have intellectual disability, delayed development, and weak muscle tone (hypotonia), and some develop seizures.Some people with ALG12-CDG have physical abnormalities such as a small head size (microcephaly) and unusual facial features. These features can include folds of skin that cover the inner corners of the eyes (epicanthal folds), a prominent nasal bridge, and abnormally shaped ears. Some males with ALG12-CDG have abnormal genitalia, such as a small penis (micropenis) and undescended testes.People with ALG12-CDG often produce abnormally low levels of proteins called antibodies (or immunoglobulins), particularly immunoglobulin G (IgG). Antibodies help protect the body against infection by attaching to specific foreign particles and germs, marking them for destruction. A reduction in antibodies can make it difficult for affected individuals to fight infections.Less common abnormalities seen in people with ALG12-CDG include a weakened heart muscle (cardiomyopathy) and poor bone development, which can lead to skeletal abnormalities.

MalaCards based summary: Congenital Disorder of Glycosylation, Type Ig, also known as alg12-congenital disorder of glycosylation, is related to congenital disorder of glycosylation, type in and developmental and epileptic encephalopathy 36. An important gene associated with Congenital Disorder of Glycosylation, Type Ig is ALG12 (ALG12 Alpha-1,6-Mannosyltransferase). Affiliated tissues include bone, skin and heart, and related phenotypes are intellectual disability and failure to thrive

OMIM®: 57 Congenital disorders of glycosylation (CDG), previously called carbohydrate-deficient glycoprotein syndromes (CDGSs), are a group of hereditary multisystem disorders first recognized by Jaeken et al. (1980). The characteristic biochemical abnormality of CDGs is the hypoglycosylation of glycoproteins, which is routinely determined by isoelectric focusing (IEF) of serum transferrin. Type I CDG comprises those disorders in which there is a defect in the assembly of lipid-linked oligosaccharides or their transfer onto nascent glycoproteins, whereas type II CDG comprises defects of trimming, elongation, and processing of protein-bound glycans. CDG1G is a multisystem disorder characterized by impaired psychomotor development, dysmorphic features, failure to thrive, male genital hypoplasia, coagulation abnormalities, and immune deficiency. More variable features include skeletal dysplasia, cardiac anomalies, ocular abnormalities, and sensorineural hearing loss. Some patients die in the early neonatal or infantile period, whereas others are mildly affected and live to adulthood (summary by Tahata et al., 2019). For a general discussion of CDGs, see CDG1A (212065). (607143) (Updated 24-Oct-2022)

Orphanet: 58 A form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (prominent forehead, large ears, thin upper lip), generalized hypotonia, feeding difficulties, moderate to severe developmental delay, progressive microcephaly, frequent upper respiratory tract infections due to impaired immunity with decreased immunoglobulin levels, and decreased coagulation factors. Additional features include hypogonadism with or without hypospadias in males, skeletal anomalies, seizures and cardiac anomalies in some cases. The disease is caused by loss of function mutations of the gene ALG12 (22q13.33).

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 facial dysmorphism (prominent forehead, large ears, thin upper lip), generalized hypotonia, feeding difficulties, moderate to severe developmental delay, progressive microcephaly, frequent upper respiratory tract infections due to impaired immunity with decreased immunoglobulin levels, and decreased coagulation factors and has material basis in homozygous or compound heterozygous mutation in the gene encoding dolichyl-P-mannose:Man-7-GlcNAc-2-PP-dolichyl-alpha-6-mannosyltransferase on chromosome 22q13.

Related Diseases for Congenital Disorder of Glycosylation, Type Ig

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 Ig via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 33)
# Related Disease Score Top Affiliating Genes
1 congenital disorder of glycosylation, type in 10.3
2 developmental and epileptic encephalopathy 36 10.2
3 alacrima, achalasia, and mental retardation syndrome 10.2
4 retinitis pigmentosa 10.2
5 microcephaly 10.2
6 exotropia 10.2
7 retinitis 10.2
8 congenital disorders of n-linked glycosylation and multiple pathway 10.2
9 hypotonia 10.1
10 pseudodiastrophic dysplasia 10.1
11 factor xi deficiency 10.1
12 antithrombin iii deficiency 10.1
13 scoliosis 10.1
14 idiopathic scoliosis 10.1
15 ventricular septal defect 10.1
16 heart septal defect 10.1
17 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 10.0
18 retinal detachment 10.0
19 cardiomyopathy, familial hypertrophic, 1 10.0
20 agammaglobulinemia, x-linked 10.0
21 sensorineural hearing loss 10.0
22 hypospadias 10.0
23 hypertrophic cardiomyopathy 10.0
24 thrombocytopenia 10.0
25 osteochondrodysplasia 10.0
26 agammaglobulinemia 10.0
27 polyhydramnios 10.0
28 hypoglycemia 10.0
29 talipes equinovarus 10.0
30 spinocerebellar ataxia 10 9.9 RAPGEF2 ALG12
31 hepatic veno-occlusive disease 9.9 U2AF1 AZU1
32 marginal zone b-cell lymphoma 9.7 U2AF1 FOXP1
33 speech disorder 9.6 FOXP1 AP4E1

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



Diseases related to Congenital Disorder of Glycosylation, Type Ig

Symptoms & Phenotypes for Congenital Disorder of Glycosylation, Type Ig

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

58 30 (show top 50) (show all 111)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 30 Frequent (33%) Frequent (79-30%)
HP:0001249
2 failure to thrive 58 30 Frequent (33%) Frequent (79-30%)
HP:0001508
3 delayed speech and language development 58 30 Frequent (33%) Frequent (79-30%)
HP:0000750
4 recurrent pharyngitis 58 30 Frequent (33%) Frequent (79-30%)
HP:0100776
5 recurrent pneumonia 58 30 Frequent (33%) Frequent (79-30%)
HP:0006532
6 prolonged prothrombin time 58 30 Frequent (33%) Frequent (79-30%)
HP:0008151
7 delayed gross motor development 58 30 Frequent (33%) Frequent (79-30%)
HP:0002194
8 chronic rhinitis 58 30 Frequent (33%) Frequent (79-30%)
HP:0002257
9 reduced factor xi activity 58 30 Frequent (33%) Frequent (79-30%)
HP:0001929
10 reduced protein c activity 58 30 Frequent (33%) Frequent (79-30%)
HP:0005543
11 prolonged partial thromboplastin time 58 30 Frequent (33%) Frequent (79-30%)
HP:0003645
12 b lymphocytopenia 58 30 Frequent (33%) Frequent (79-30%)
HP:0010976
13 progressive microcephaly 58 30 Frequent (33%) Frequent (79-30%)
HP:0000253
14 recurrent ear infections 58 30 Frequent (33%) Frequent (79-30%)
HP:0410018
15 reduced protein s activity 58 30 Frequent (33%) Frequent (79-30%)
HP:0004855
16 reduced antithrombin antigen 58 30 Frequent (33%) Frequent (79-30%)
HP:0040246
17 abnormal peripheral nervous system morphology 58 30 Frequent (33%) Frequent (79-30%)
HP:0000759
18 abnormal circulating igg level 30 Frequent (33%) HP:0410242
19 scoliosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002650
20 sensorineural hearing impairment 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000407
21 gastroesophageal reflux 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002020
22 strabismus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000486
23 cryptorchidism 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000028
24 intrauterine growth retardation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001511
25 micrognathia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000347
26 low posterior hairline 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002162
27 elevated hepatic transaminase 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002910
28 epicanthus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000286
29 thrombocytopenia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001873
30 talipes equinovarus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001762
31 retinal detachment 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000541
32 sandal gap 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001852
33 clinodactyly of the 5th finger 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0004209
34 micropenis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000054
35 thin upper lip vermilion 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000219
36 long face 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000276
37 ventriculomegaly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002119
38 prominent nasal bridge 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000426
39 hypospadias 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000047
40 short philtrum 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000322
41 redundant skin 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001582
42 severe global developmental delay 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0011344
43 proximal placement of thumb 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0009623
44 midface retrusion 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0011800
45 premature birth 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001622
46 cerebellar hypoplasia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001321
47 wide nose 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000445
48 pachygyria 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001302
49 hypoalbuminemia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003073
50 hypocholesterolemia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003146

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Growth Other:
failure to thrive

Chest Breasts:
inverted nipples

Genitourinary External Genitalia Male:
micropenis
hypospadias
hypoplastic scrotum

Cardiovascular Vascular:
patent ductus arteriosus

Abdomen Gastrointestinal:
feeding difficulties

Skeletal Limbs:
short tibia
short humerus
short femur
ulnar deviation
rhizomelic limb shortening
more
Head And Neck Mouth:
thin upper lip

Head And Neck Nose:
broad nose

Growth Weight:
low birth weight

Head And Neck Ears:
thick ears
sensorineural deafness (in 2 siblings)

Chest Ribs Sternum Clavicles And Scapulae:
short ribs with flared metaphyses

Skeletal Hands:
interphalangeal dislocations

Laboratory Abnormalities:
abnormal glycosylation of transferrin, type 1 pattern

Genitourinary Internal Genitalia Male:
cryptorchidism

Skeletal Feet:
talipes equinovarus
sandal gap
clubfoot
duplication of talus, bilateral

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Skeletal Spine:
butterfly vertebrae
delayed ossification of cervical vertebral bodies

Neurologic Central Nervous System:
psychomotor retardation
hypotonia

Cardiovascular Heart:
patent foramen ovale

Head And Neck Face:
midface hypoplasia
facial dysmorphism

Immunology:
frequent respiratory infections
hypogammaglobulinemia

Head And Neck Head:
microcephaly, progressive

Head And Neck Eyes:
retinal detachment, bilateral (in 1 patient)

Skeletal Pelvis:
delayed ossification of pubic bone

Muscle Soft Tissue:
edema present at birth

Clinical features from OMIM®:

607143 (Updated 24-Oct-2022)

Drugs & Therapeutics for Congenital Disorder of Glycosylation, Type Ig

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

Genetic Tests for Congenital Disorder of Glycosylation, Type Ig

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

# Genetic test Affiliating Genes
1 Alg12-Congenital Disorder of Glycosylation 28 ALG12

Anatomical Context for Congenital Disorder of Glycosylation, Type Ig

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

MalaCards : Bone, Skin, Heart, Brain, Eye
ODiseA: Brain

Publications for Congenital Disorder of Glycosylation, Type Ig

Articles related to Congenital Disorder of Glycosylation, Type Ig:

(show all 25)
# Title Authors PMID Year
1
Complex phenotypes in ALG12-congenital disorder of glycosylation (ALG12-CDG): Case series and review of the literature. 62 57 5
31481313 2019
2
Diagnosis of ALG12-CDG by exome sequencing in a case of severe skeletal dysplasia. 62 57 5
25019053 2014
3
Expanding spectrum of congenital disorder of glycosylation Ig (CDG-Ig): sibs with a unique skeletal dysplasia, hypogammaglobulinemia, cardiomyopathy, genital malformations, and early lethality. 62 57 5
17506107 2007
4
Abnormal glycosylation of red cell membrane band 3 in the congenital disorder of glycosylation Ig. 62 57 5
12736397 2003
5
Deficiency of dolichyl-P-Man:Man7GlcNAc2-PP-dolichyl mannosyltransferase causes congenital disorder of glycosylation type Ig. 62 57 5
12093361 2002
6
ALG12 mannosyltransferase defect in congenital disorder of glycosylation type lg. 62 57 5
12217961 2002
7
Congenital disorders of glycosylation type Ig is defined by a deficiency in dolichyl-P-mannose:Man7GlcNAc2-PP-dolichyl mannosyltransferase. 62 57 5
11983712 2002
8
Molecular and clinical description of the first US patients with congenital disorder of glycosylation Ig. 62 5
15639192 2005
9
Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides. 5
19862844 2009
10
Splicing in action: assessing disease causing sequence changes. 5
16199547 2005
11
A novel homozygous mutation in the human ALG12 gene results in an aberrant profile of oligomannose N-glycans in patient's serum. 62
34467644 2021
12
Novel ALG12 variants and hydronephrosis in siblings with impaired N-glycosylation. 62
34092405 2021
13
A Novel Homozygous ALG12 Mutation in a Patient with CDG Type Ig: New Report of a Case with a Mild Phenotype. 62
34602961 2021
14
Skeletal and Bone Mineral Density Features, Genetic Profile in Congenital Disorders of Glycosylation: Review. 62
34441372 2021
15
HILIC-UPLC-MS for high throughput and isomeric N-glycan separation and characterization in Congenital Disorders Glycosylation and human diseases. 62
32915358 2021
16
Congenital disorders of glycosylation - an umbrella term for rapidly expanding group of rare genetic metabolic disorders - importance of physical investigation. 62
33618527 2021
17
ALG12-CDG: An unusual patient without intellectual disability and facial dysmorphism, and with a novel variant. 62
32530140 2020
18
ALG12-CDG: novel glycophenotype insights endorse the molecular defect. 62
31529350 2019
19
Ocular abnormalities in a patient with congenital disorder of glycosylation type Ig. 62
31743061 2019
20
Immunological aspects of congenital disorders of glycosylation (CDG): a review. 62
27393411 2016
21
Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation. 62
26805780 2016
22
A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9. 62
25966638 2016
23
The compartmentalisation of phosphorylated free oligosaccharides in cells from a CDG Ig patient reveals a novel ER-to-cytosol translocation process. 62
20652024 2010
24
Hydrophobic Man-1-P derivatives correct abnormal glycosylation in Type I congenital disorder of glycosylation fibroblasts. 62
16079417 2005
25
Congenital disorder of glycosylation (CDG) Ig: report on a patient and review of the literature. 62
16435218 2005

Variations for Congenital Disorder of Glycosylation, Type Ig

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

5 (show top 50) (show all 283)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ALG12 NM_024105.4(ALG12):c.424T>G (p.Phe142Val) SNV Pathogenic
3433 rs28942090 GRCh37: 22:50304127-50304127
GRCh38: 22:49910479-49910479
2 ALG12 NM_024105.4(ALG12):c.301G>A (p.Gly101Arg) SNV Pathogenic
3436 rs121907933 GRCh37: 22:50304250-50304250
GRCh38: 22:49910602-49910602
3 ALG12 NM_024105.4(ALG12):c.473T>C (p.Leu158Pro) SNV Pathogenic
3437 rs121907934 GRCh37: 22:50303733-50303733
GRCh38: 22:49910085-49910085
4 ALG12 NM_024105.4(ALG12):c.1242C>G (p.Tyr414Ter) SNV Pathogenic
Likely Benign
3438 rs121907935 GRCh37: 22:50297711-50297711
GRCh38: 22:49904063-49904063
5 ALG12 NM_024105.4(ALG12):c.117del (p.Gln40fs) DEL Pathogenic
242855 rs761221480 GRCh37: 22:50307297-50307297
GRCh38: 22:49913649-49913649
6 ALG12 NM_024105.4(ALG12):c.930_931del (p.Arg311fs) DEL Pathogenic
560937 rs1569174722 GRCh37: 22:50301430-50301431
GRCh38: 22:49907782-49907783
7 ALG12 NM_024105.4(ALG12):c.165C>A (p.Tyr55Ter) SNV Pathogenic
987881 rs563259198 GRCh37: 22:50307163-50307163
GRCh38: 22:49913515-49913515
8 ALG12 NM_024105.4(ALG12):c.522G>A (p.Trp174Ter) SNV Pathogenic
1383200 GRCh37: 22:50303684-50303684
GRCh38: 22:49910036-49910036
9 ALG12 NM_024105.4(ALG12):c.789C>A (p.Tyr263Ter) SNV Pathogenic
1440773 GRCh37: 22:50301572-50301572
GRCh38: 22:49907924-49907924
10 ALG12 NM_024105.4(ALG12):c.688dup (p.Tyr230fs) DUP Pathogenic
1456464 GRCh37: 22:50302971-50302972
GRCh38: 22:49909323-49909324
11 ALG12 NM_024105.4(ALG12):c.502G>T (p.Glu168Ter) SNV Pathogenic
1448154 GRCh37: 22:50303704-50303704
GRCh38: 22:49910056-49910056
12 AP4E1 NM_007347.5(AP4E1):c.3313C>T (p.Arg1105Ter) SNV Pathogenic
1031734 rs1313275799 GRCh37: 15:51294758-51294758
GRCh38: 15:51002561-51002561
13 overlap with 31 genes NC_000022.10:g.(?_50297466)_(51066227_?)del DEL Pathogenic
1071720 GRCh37: 22:50297466-51066227
GRCh38:
14 ALG12 NM_024105.4(ALG12):c.1001del (p.Asn334fs) DEL Pathogenic
242854 rs759244819 GRCh37: 22:50298146-50298146
GRCh38: 22:49904498-49904498
15 ALG12 NM_024105.4(ALG12):c.1156dup (p.Gln386fs) DUP Pathogenic/Likely Pathogenic
1069034 GRCh37: 22:50297990-50297991
GRCh38: 22:49904342-49904343
16 ALG12 NM_024105.4(ALG12):c.295+1G>A SNV Likely Pathogenic
862150 rs376314741 GRCh37: 22:50307032-50307032
GRCh38: 22:49913384-49913384
17 ALG12 NM_024105.4(ALG12):c.1246_1247del (p.Lys416fs) DEL Likely Pathogenic
967488 rs746988876 GRCh37: 22:50297706-50297707
GRCh38: 22:49904058-49904059
18 ALG12 NM_024105.4(ALG12):c.470-1_470insGGCACGACAAGTGGGCCGCT INSERT Likely Pathogenic
1067583 GRCh37: 22:50303736-50303737
GRCh38: 22:49910088-49910089
19 ALG12 NM_024105.4(ALG12):c.367G>A (p.Gly123Arg) SNV Likely Pathogenic
523035 rs1555930118 GRCh37: 22:50304184-50304184
GRCh38: 22:49910536-49910536
20 ALG12 NM_024105.4(ALG12):c.768+1G>A SNV Likely Pathogenic
1323878 GRCh37: 22:50302891-50302891
GRCh38: 22:49909243-49909243
21 ALG12 NM_024105.4(ALG12):c.1439T>C (p.Leu480Pro) SNV Likely Pathogenic
637057 rs775856400 GRCh37: 22:50297514-50297514
GRCh38: 22:49903866-49903866
22 ALG12 NM_024105.4(ALG12):c.437G>A (p.Arg146Gln) SNV Conflicting Interpretations Of Pathogenicity
3435 rs121907932 GRCh37: 22:50304114-50304114
GRCh38: 22:49910466-49910466
23 ALG12 NM_024105.4(ALG12):c.470-11C>T SNV Conflicting Interpretations Of Pathogenicity
342053 rs375328311 GRCh37: 22:50303747-50303747
GRCh38: 22:49910099-49910099
24 ALG12 NM_024105.4(ALG12):c.501C>T (p.His167=) SNV Conflicting Interpretations Of Pathogenicity
342051 rs149845730 GRCh37: 22:50303705-50303705
GRCh38: 22:49910057-49910057
25 ALG12 NM_024105.4(ALG12):c.470-12A>T SNV Conflicting Interpretations Of Pathogenicity
342054 rs191669043 GRCh37: 22:50303748-50303748
GRCh38: 22:49910100-49910100
26 ALG12 NM_024105.4(ALG12):c.933C>T (p.Arg311=) SNV Conflicting Interpretations Of Pathogenicity
342046 rs779215527 GRCh37: 22:50301428-50301428
GRCh38: 22:49907780-49907780
27 ALG12 NM_024105.4(ALG12):c.469+14G>A SNV Conflicting Interpretations Of Pathogenicity
342055 rs76905919 GRCh37: 22:50304068-50304068
GRCh38: 22:49910420-49910420
28 ALG12 NM_024105.4(ALG12):c.493C>T (p.Leu165=) SNV Conflicting Interpretations Of Pathogenicity
342052 rs778040010 GRCh37: 22:50303713-50303713
GRCh38: 22:49910065-49910065
29 ALG12 NM_024105.4(ALG12):c.1152C>G (p.Pro384=) SNV Conflicting Interpretations Of Pathogenicity
342044 rs375721419 GRCh37: 22:50297995-50297995
GRCh38: 22:49904347-49904347
30 ALG12 NM_024105.4(ALG12):c.639C>T (p.Ala213=) SNV Conflicting Interpretations Of Pathogenicity
342050 rs140835842 GRCh37: 22:50303567-50303567
GRCh38: 22:49909919-49909919
31 ALG12 NM_024105.4(ALG12):c.55G>A (p.Ala19Thr) SNV Conflicting Interpretations Of Pathogenicity
342061 rs138266806 GRCh37: 22:50307359-50307359
GRCh38: 22:49913711-49913711
32 ALG12 NM_024105.4(ALG12):c.359G>A (p.Arg120Gln) SNV Conflicting Interpretations Of Pathogenicity
342057 rs117687848 GRCh37: 22:50304192-50304192
GRCh38: 22:49910544-49910544
33 ALG12 NM_024105.4(ALG12):c.189C>T (p.Val63=) SNV Conflicting Interpretations Of Pathogenicity
717416 rs190345740 GRCh37: 22:50307139-50307139
GRCh38: 22:49913491-49913491
34 ALG12 NM_024105.4(ALG12):c.57C>T (p.Ala19=) SNV Conflicting Interpretations Of Pathogenicity
746106 rs763942380 GRCh37: 22:50307357-50307357
GRCh38: 22:49913709-49913709
35 ALG12 NM_024105.4(ALG12):c.243G>A (p.Ala81=) SNV Conflicting Interpretations Of Pathogenicity
729654 rs564172046 GRCh37: 22:50307085-50307085
GRCh38: 22:49913437-49913437
36 ALG12 NM_024105.4(ALG12):c.163-4G>A SNV Conflicting Interpretations Of Pathogenicity
900082 rs776043296 GRCh37: 22:50307169-50307169
GRCh38: 22:49913521-49913521
37 ALG12 NM_024105.4(ALG12):c.1452C>T (p.Leu484=) SNV Conflicting Interpretations Of Pathogenicity
903608 rs772352960 GRCh37: 22:50297501-50297501
GRCh38: 22:49903853-49903853
38 ALG12 NM_024105.4(ALG12):c.1299C>T (p.Leu433=) SNV Conflicting Interpretations Of Pathogenicity
342043 rs150614794 GRCh37: 22:50297654-50297654
GRCh38: 22:49904006-49904006
39 ALG12 NM_024105.4(ALG12):c.1362C>T (p.Val454=) SNV Conflicting Interpretations Of Pathogenicity
342042 rs12163163 GRCh37: 22:50297591-50297591
GRCh38: 22:49903943-49903943
40 ALG12 NM_024105.4(ALG12):c.1288A>C (p.Thr430Pro) SNV Uncertain Significance
1698709 GRCh37: 22:50297665-50297665
GRCh38: 22:49904017-49904017
41 ALG12 NM_024105.4(ALG12):c.869C>T (p.Ala290Val) SNV Uncertain Significance
96101 rs201508940 GRCh37: 22:50301492-50301492
GRCh38: 22:49907844-49907844
42 ALG12 NM_024105.4(ALG12):c.1211G>A (p.Arg404Gln) SNV Uncertain Significance
1469204 GRCh37: 22:50297854-50297854
GRCh38: 22:49904206-49904206
43 ALG12 NM_024105.4(ALG12):c.1456C>T (p.Arg486Trp) SNV Uncertain Significance
1480799 GRCh37: 22:50297497-50297497
GRCh38: 22:49903849-49903849
44 ALG12 NM_024105.4(ALG12):c.377T>G (p.Val126Gly) SNV Uncertain Significance
1447643 GRCh37: 22:50304174-50304174
GRCh38: 22:49910526-49910526
45 ALG12 NM_024105.4(ALG12):c.204C>G (p.Phe68Leu) SNV Uncertain Significance
1505684 GRCh37: 22:50307124-50307124
GRCh38: 22:49913476-49913476
46 ALG12 NM_024105.4(ALG12):c.845G>A (p.Gly282Asp) SNV Uncertain Significance
1506179 GRCh37: 22:50301516-50301516
GRCh38: 22:49907868-49907868
47 ALG12 NM_024105.4(ALG12):c.1067C>T (p.Ala356Val) SNV Uncertain Significance
1508038 GRCh37: 22:50298080-50298080
GRCh38: 22:49904432-49904432
48 ALG12 NM_024105.4(ALG12):c.1360G>A (p.Val454Ile) SNV Uncertain Significance
1509820 GRCh37: 22:50297593-50297593
GRCh38: 22:49903945-49903945
49 ALG12 NM_024105.4(ALG12):c.769-10C>G SNV Uncertain Significance
1493143 GRCh37: 22:50301602-50301602
GRCh38: 22:49907954-49907954
50 ALG12 NM_024105.4(ALG12):c.1135C>G (p.Leu379Val) SNV Uncertain Significance
1516441 GRCh37: 22:50298012-50298012
GRCh38: 22:49904364-49904364

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

73
# Symbol AA change Variation ID SNP ID
1 ALG12 p.Thr67Met VAR_017904 rs121907931
2 ALG12 p.Phe142Val VAR_017905 rs28942090
3 ALG12 p.Arg146Gln VAR_017906 rs121907932
4 ALG12 p.Leu158Pro VAR_017907 rs121907934
5 ALG12 p.Gly101Arg VAR_038428 rs121907933

Expression for Congenital Disorder of Glycosylation, Type Ig

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

Pathways for Congenital Disorder of Glycosylation, Type Ig

GO Terms for Congenital Disorder of Glycosylation, Type Ig

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

# Name GO ID Score Top Affiliating Genes
1 monocyte activation GO:0042117 8.92 FOXP1 AZU1

Sources for Congenital Disorder of Glycosylation, Type Ig

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
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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