MCID: CNG194
MIFTS: 28

Congenital Disorder of Glycosylation, Type Ig

Categories: Genetic diseases, Neuronal diseases, Metabolic diseases, Rare diseases, Liver diseases, Skin diseases, Cardiovascular diseases, Fetal diseases, Mental diseases, Blood diseases, Gastrointestinal diseases, Nephrological diseases, Ear diseases, Bone diseases, Muscle diseases, Endocrine diseases

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 13
Cdg1g 57 59 75
Congenital Disorder of Glycosylation Type 1g 59 73
Congenital Disorder of Glycosylation Type Ig 59 75
Cdg Ig 57 75
Cdg-Ig 59 75
Cdgig 57 75
Carbohydrate Deficient Glycoprotein Syndrome Type Ig 59
Glycosylation, Congenital Disorder of, Type Ig 40
Congenital Disorder of Glycosylation 1g 75
Mannosyltransferase 8 Deficiency 59
Cdg Syndrome Type Ig 59
Cdg Ig; Cdgig 57
Alg12-Cdg 59

Characteristics:

Orphanet epidemiological data:

59
alg12-cdg
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
death in neonatal period or infancy
variable feature may be present


Classifications:



External Ids:

OMIM 57 607143
Orphanet 59 ORPHA79324
ICD10 via Orphanet 34 E77.8
UMLS via Orphanet 74 C2931001
MeSH 44 D018981
UMLS 73 C2931001

Summaries for Congenital Disorder of Glycosylation, Type Ig

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. For a general discussion of CDGs, see CDG1A (212065) and CDG1B (602579). (607143)

MalaCards based summary : Congenital Disorder of Glycosylation, Type Ig, also known as cdg1g, is related to alg12-congenital disorder of glycosylation and congenital disorder of glycosylation, type in. An important gene associated with Congenital Disorder of Glycosylation, Type Ig is ALG12 (ALG12, Alpha-1,6-Mannosyltransferase). Affiliated tissues include bone, and related phenotypes are muscular hypotonia and cognitive impairment

UniProtKB/Swiss-Prot : 75 Congenital disorder of glycosylation 1G: 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 Ig

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

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

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

# Related Disease Score Top Affiliating Genes
1 alg12-congenital disorder of glycosylation 12.0
2 congenital disorder of glycosylation, type in 10.2

Symptoms & Phenotypes for Congenital Disorder of Glycosylation, Type Ig

Symptoms via clinical synopsis from OMIM:

57
Growth Other:
failure to thrive

Cardiovascular Vascular:
patent ductus arteriosus

Chest Breasts:
inverted nipples

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

Skeletal Spine:
butterfly vertebrae
delayed ossification of cervical vertebral bodies

Cardiovascular Heart:
patent foramen ovale

Head And Neck Face:
midface hypoplasia
facial dysmorphism

Head And Neck Mouth:
thin upper lip

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

Abdomen Gastrointestinal:
feeding difficulties

GenitourinaryInternal GenitaliaMale:
cryptorchidism

Genitourinary External Genitalia Male:
hypospadias
micropenis
hypoplastic scrotum

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Skeletal Limbs:
short tibia
short humerus
short femur
rhizomelic limb shortening
ulnar deviation
more
Neurologic Central Nervous System:
hypotonia
psychomotor retardation

Head And Neck Nose:
broad nose

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

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

59 32 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
2 cognitive impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0100543
3 abnormality of immune system physiology 59 32 frequent (33%) Frequent (79-30%) HP:0010978
4 abnormality of the genital system 59 32 frequent (33%) Frequent (79-30%) HP:0000078
5 failure to thrive 32 HP:0001508
6 feeding difficulties 32 HP:0011968
7 abnormality of the pinna 32 HP:0000377
8 short philtrum 32 HP:0000322
9 hypocalcemia 32 HP:0002901
10 generalized hypotonia 32 HP:0001290
11 prolonged partial thromboplastin time 32 HP:0003645
12 progressive microcephaly 32 HP:0000253
13 respiratory tract infection 32 HP:0011947

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

Anatomical Context for Congenital Disorder of Glycosylation, Type Ig

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

41
Bone

Publications for Congenital Disorder of Glycosylation, Type Ig

Articles related to Congenital Disorder of Glycosylation, Type Ig:

# Title Authors Year
1
ALG12 mannosyltransferase defect in congenital disorder of glycosylation type Ig. ( 12217961 )
2002
2
Deficiency of dolichyl-P-Man:Man7GlcNAc2-PP-dolichyl mannosyltransferase causes congenital disorder of glycosylation type Ig. ( 12093361 )
2002
3
Congenital disorders of glycosylation type Ig is defined by a deficiency in dolichyl-P-mannose:Man7GlcNAc2-PP-dolichyl mannosyltransferase. ( 11983712 )
2002

Variations for Congenital Disorder of Glycosylation, Type Ig

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

75
# 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

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

6
(show all 28)
# Gene Variation Type Significance SNP ID Assembly Location
1 ALG12 NM_024105.3(ALG12): c.424T> G (p.Phe142Val) single nucleotide variant Pathogenic rs28942090 GRCh37 Chromosome 22, 50304127: 50304127
2 ALG12 NM_024105.3(ALG12): c.424T> G (p.Phe142Val) single nucleotide variant Pathogenic rs28942090 GRCh38 Chromosome 22, 49910479: 49910479
3 ALG12 NM_024105.3(ALG12): c.200C> T (p.Thr67Met) single nucleotide variant Pathogenic rs121907931 GRCh37 Chromosome 22, 50307128: 50307128
4 ALG12 NM_024105.3(ALG12): c.200C> T (p.Thr67Met) single nucleotide variant Pathogenic rs121907931 GRCh38 Chromosome 22, 49913480: 49913480
5 ALG12 NM_024105.3(ALG12): c.437G> A (p.Arg146Gln) single nucleotide variant Pathogenic rs121907932 GRCh37 Chromosome 22, 50304114: 50304114
6 ALG12 NM_024105.3(ALG12): c.437G> A (p.Arg146Gln) single nucleotide variant Pathogenic rs121907932 GRCh38 Chromosome 22, 49910466: 49910466
7 ALG12 NM_024105.3(ALG12): c.301G> A (p.Gly101Arg) single nucleotide variant Pathogenic rs121907933 GRCh37 Chromosome 22, 50304250: 50304250
8 ALG12 NM_024105.3(ALG12): c.301G> A (p.Gly101Arg) single nucleotide variant Pathogenic rs121907933 GRCh38 Chromosome 22, 49910602: 49910602
9 ALG12 NM_024105.3(ALG12): c.473T> C (p.Leu158Pro) single nucleotide variant Pathogenic rs121907934 GRCh37 Chromosome 22, 50303733: 50303733
10 ALG12 NM_024105.3(ALG12): c.473T> C (p.Leu158Pro) single nucleotide variant Pathogenic rs121907934 GRCh38 Chromosome 22, 49910085: 49910085
11 ALG12 NM_024105.3(ALG12): c.1242C> G (p.Tyr414Ter) single nucleotide variant Pathogenic rs121907935 GRCh37 Chromosome 22, 50297711: 50297711
12 ALG12 NM_024105.3(ALG12): c.1242C> G (p.Tyr414Ter) single nucleotide variant Pathogenic rs121907935 GRCh38 Chromosome 22, 49904063: 49904063
13 ALG12 NM_024105.3(ALG12): c.1001delA (p.Asn334Thrfs) deletion Pathogenic rs759244819 GRCh38 Chromosome 22, 49904498: 49904498
14 ALG12 NM_024105.3(ALG12): c.1001delA (p.Asn334Thrfs) deletion Pathogenic rs759244819 GRCh37 Chromosome 22, 50298146: 50298146
15 ALG12 NM_024105.3(ALG12): c.117delG (p.Gln40Argfs) deletion Pathogenic rs761221480 GRCh37 Chromosome 22, 50307297: 50307297
16 ALG12 NM_024105.3(ALG12): c.117delG (p.Gln40Argfs) deletion Pathogenic rs761221480 GRCh38 Chromosome 22, 49913649: 49913649
17 ALG12 NM_024105.3(ALG12): c.99G> A (p.Val33=) single nucleotide variant Benign/Likely benign rs76707654 GRCh38 Chromosome 22, 49913667: 49913667
18 ALG12 NM_024105.3(ALG12): c.99G> A (p.Val33=) single nucleotide variant Benign/Likely benign rs76707654 GRCh37 Chromosome 22, 50307315: 50307315
19 ALG12 NM_024105.3(ALG12): c.1029G> A (p.Ala343=) single nucleotide variant Benign/Likely benign rs62233155 GRCh38 Chromosome 22, 49904470: 49904470
20 ALG12 NM_024105.3(ALG12): c.1029G> A (p.Ala343=) single nucleotide variant Benign/Likely benign rs62233155 GRCh37 Chromosome 22, 50298118: 50298118
21 ALG12 NM_024105.3(ALG12): c.671C> T (p.Thr224Met) single nucleotide variant Uncertain significance rs755892540 GRCh37 Chromosome 22, 50302989: 50302989
22 ALG12 NM_024105.3(ALG12): c.671C> T (p.Thr224Met) single nucleotide variant Uncertain significance rs755892540 GRCh38 Chromosome 22, 49909341: 49909341
23 ALG12 NM_024105.3(ALG12): c.207C> T (p.Leu69=) single nucleotide variant Likely benign rs765297992 GRCh37 Chromosome 22, 50307121: 50307121
24 ALG12 NM_024105.3(ALG12): c.207C> T (p.Leu69=) single nucleotide variant Likely benign rs765297992 GRCh38 Chromosome 22, 49913473: 49913473
25 ALG12 NM_024105.3(ALG12): c.1048G> A (p.Gly350Arg) single nucleotide variant Uncertain significance rs377095724 GRCh38 Chromosome 22, 49904451: 49904451
26 ALG12 NM_024105.3(ALG12): c.1048G> A (p.Gly350Arg) single nucleotide variant Uncertain significance rs377095724 GRCh37 Chromosome 22, 50298099: 50298099
27 ALG12 NM_024105.3(ALG12): c.367G> A (p.Gly123Arg) single nucleotide variant Likely pathogenic GRCh37 Chromosome 22, 50304184: 50304184
28 ALG12 NM_024105.3(ALG12): c.367G> A (p.Gly123Arg) single nucleotide variant Likely pathogenic GRCh38 Chromosome 22, 49910536: 49910536

Expression for Congenital Disorder of Glycosylation, Type Ig

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Pathways for Congenital Disorder of Glycosylation, Type Ig

GO Terms for Congenital Disorder of Glycosylation, Type Ig

Sources for Congenital Disorder of Glycosylation, Type Ig

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