CDG1L
MCID: CNG198
MIFTS: 32

Congenital Disorder of Glycosylation, Type Il (CDG1L)

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

Aliases & Classifications for Congenital Disorder of Glycosylation, Type Il

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

Name: Congenital Disorder of Glycosylation, Type Il 58 13
Cdg Il 58 76
Cdg1l 58 76
Cdgil 58 76
Glycosylation, Congenital Disorder of, Type Il 41
Congenital Disorder of Glycosylation Type Il 76
Congenital Disorder of Glycosylation Type 1l 74
Congenital Disorder of Glycosylation 1l 76
Cdg Il; Cdgil 58
Cdg-Il 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype
onset at birth or in early infancy


HPO:

33
congenital disorder of glycosylation, type il:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Congenital Disorder of Glycosylation, Type Il

UniProtKB/Swiss-Prot : 76 Congenital disorder of glycosylation 1L: 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.

MalaCards based summary : Congenital Disorder of Glycosylation, Type Il, also known as cdg il, is related to congenital disorder of glycosylation, type in. An important gene associated with Congenital Disorder of Glycosylation, Type Il is ALG9 (ALG9 Alpha-1,2-Mannosyltransferase). Affiliated tissues include bone, brain and kidney, and related phenotypes are abnormal facial shape and hypertelorism

OMIM : 58 Congenital disorders of glycosylation (CDGs) that represent defects of dolichol-linked oligosaccharide assembly are classified as CDG type I. For a general description and a discussion of the classification of CDGs, see CDG1A (212065). (608776)

Related Diseases for Congenital Disorder of Glycosylation, Type Il

Diseases in the Congenital Disorder of Glycosylation, Type Ii 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 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

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

# Related Disease Score Top Affiliating Genes
1 congenital disorder of glycosylation, type in 29.3 ALG9 ATP6V0A2

Symptoms & Phenotypes for Congenital Disorder of Glycosylation, Type Il

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

33 (show all 29)
# Description HPO Frequency HPO Source Accession
1 abnormal facial shape 33 very rare (1%) HP:0001999
2 hypertelorism 33 HP:0000316
3 frontal bossing 33 HP:0002007
4 intellectual disability 33 HP:0001249
5 seizures 33 HP:0001250
6 hyperreflexia 33 HP:0001347
7 failure to thrive 33 HP:0001508
8 global developmental delay 33 HP:0001263
9 skeletal dysplasia 33 HP:0002652
10 delayed skeletal maturation 33 HP:0002750
11 depressed nasal bridge 33 HP:0005280
12 short nose 33 HP:0003196
13 microcephaly 33 HP:0000252
14 brachycephaly 33 HP:0000248
15 ascites 33 HP:0001541
16 long philtrum 33 HP:0000343
17 edema 33 HP:0000969
18 wide intermamillary distance 33 HP:0006610
19 inverted nipples 33 HP:0003186
20 epileptic encephalopathy 33 HP:0200134
21 cerebellar atrophy 33 HP:0001272
22 generalized hypotonia 33 HP:0001290
23 hepatosplenomegaly 33 HP:0001433
24 esotropia 33 HP:0000565
25 pericardial effusion 33 HP:0001698
26 poor speech 33 HP:0002465
27 global brain atrophy 33 HP:0002283
28 delayed cns myelination 33 HP:0002188
29 abnormal cardiac septum morphology 33 HP:0001671

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
esotropia

Head And Neck Neck:
short neck

Neurologic Central Nervous System:
intellectual disability
hyperreflexia
epileptic encephalopathy
cerebellar atrophy
poor speech
more
Skeletal Spine:
kyphosis

Skeletal:
skeletal dysplasia
delayed bone age

Skeletal Skull:
brachycephaly
thickened skull bones

Chest Breasts:
inverted nipples
widely spaced nipples

Cardiovascular Heart:
pericardial effusion
septal defects
congenital heart disease

Head And Neck Mouth:
large mouth

Skeletal Limbs:
brachymelia

Laboratory Abnormalities:
hypoglycosylation of serum transferrin, consistent with cdg type i
defective lipid-linked oligosaccharide (llo) assembly

Head And Neck Ears:
low-set ears

Head And Neck Head:
frontal bossing
microcephaly

Growth Other:
failure to thrive

Abdomen Liver:
hepatomegaly

Head And Neck Nose:
depressed nasal bridge
short nose

Head And Neck Face:
long philtrum
dysmorphic facial features, variable (in some patients)

Skeletal Pelvis:
hip dislocation

Muscle Soft Tissue:
hypotonia
ascites (1 patient with nonimmune hydrops fetalis)
edema (1 patient with nonimmune hydrops fetalis)

Prenatal Manifestations Movement:
decreased fetal movements

Genitourinary Kidneys:
polycystic kidneys (uncommon)

Clinical features from OMIM:

608776

Drugs & Therapeutics for Congenital Disorder of Glycosylation, Type Il

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

Genetic Tests for Congenital Disorder of Glycosylation, Type Il

Anatomical Context for Congenital Disorder of Glycosylation, Type Il

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

42
Bone, Brain, Kidney, Heart, Skin, Liver, Eye

Publications for Congenital Disorder of Glycosylation, Type Il

Articles related to Congenital Disorder of Glycosylation, Type Il:

# Title Authors Year
1
Further Delineation of the ALG9-CDG Phenotype. ( 26453364 )
2016
2
CDG-IL: an infant with a novel mutation in the ALG9 gene and additional phenotypic features. ( 15945070 )
2005
3
Identification and functional analysis of a defect in the human ALG9 gene: definition of congenital disorder of glycosylation type IL. ( 15148656 )
2004

Variations for Congenital Disorder of Glycosylation, Type Il

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

76
# Symbol AA change Variation ID SNP ID
1 ALG9 p.Tyr287Cys VAR_023410 rs121908023
2 ALG9 p.Glu523Lys VAR_023413 rs121908022

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

6 (show all 37)
# Gene Variation Type Significance SNP ID Assembly Location
1 ALG9 NM_024740.2(ALG9): c.1588G> A (p.Glu530Lys) single nucleotide variant Pathogenic rs121908022 GRCh37 Chromosome 11, 111706902: 111706902
2 ALG9 NM_024740.2(ALG9): c.1588G> A (p.Glu530Lys) single nucleotide variant Pathogenic rs121908022 GRCh38 Chromosome 11, 111836179: 111836179
3 ALG9 NM_024740.2(ALG9): c.860A> G (p.Tyr287Cys) single nucleotide variant Pathogenic rs121908023 GRCh37 Chromosome 11, 111724138: 111724138
4 ALG9 NM_024740.2(ALG9): c.860A> G (p.Tyr287Cys) single nucleotide variant Pathogenic rs121908023 GRCh38 Chromosome 11, 111853415: 111853415
5 ATP6V0A2 NM_012463.3(ATP6V0A2): c.1016G> A (p.Arg339His) single nucleotide variant Benign/Likely benign rs74922060 GRCh37 Chromosome 12, 124221796: 124221796
6 ATP6V0A2 NM_012463.3(ATP6V0A2): c.1016G> A (p.Arg339His) single nucleotide variant Benign/Likely benign rs74922060 GRCh38 Chromosome 12, 123737249: 123737249
7 ATP6V0A2 NM_012463.3(ATP6V0A2): c.1121A> G (p.Lys374Arg) single nucleotide variant Benign/Likely benign rs79134187 GRCh37 Chromosome 12, 124228414: 124228414
8 ATP6V0A2 NM_012463.3(ATP6V0A2): c.1121A> G (p.Lys374Arg) single nucleotide variant Benign/Likely benign rs79134187 GRCh38 Chromosome 12, 123743867: 123743867
9 ATP6V0A2 NM_012463.3(ATP6V0A2): c.2438C> T (p.Ala813Val) single nucleotide variant Benign/Likely benign rs17883456 GRCh37 Chromosome 12, 124241506: 124241506
10 ATP6V0A2 NM_012463.3(ATP6V0A2): c.2438C> T (p.Ala813Val) single nucleotide variant Benign/Likely benign rs17883456 GRCh38 Chromosome 12, 123756959: 123756959
11 ALG9 NM_024740.2(ALG9): c.406-7C> T single nucleotide variant Benign rs45574638 GRCh37 Chromosome 11, 111735981: 111735981
12 ALG9 NM_024740.2(ALG9): c.406-7C> T single nucleotide variant Benign rs45574638 GRCh38 Chromosome 11, 111865258: 111865258
13 ALG9 NM_024740.2(ALG9): c.694G> C (p.Ala232Pro) single nucleotide variant Uncertain significance rs36111204 GRCh37 Chromosome 11, 111728332: 111728332
14 ALG9 NM_024740.2(ALG9): c.694G> C (p.Ala232Pro) single nucleotide variant Uncertain significance rs36111204 GRCh38 Chromosome 11, 111857609: 111857609
15 ALG9 NM_024740.2(ALG9): c.1538C> T (p.Pro513Leu) single nucleotide variant Benign/Likely benign rs185149177 GRCh37 Chromosome 11, 111706952: 111706952
16 ALG9 NM_024740.2(ALG9): c.1538C> T (p.Pro513Leu) single nucleotide variant Benign/Likely benign rs185149177 GRCh38 Chromosome 11, 111836229: 111836229
17 ATP6V0A2 NM_012463.3(ATP6V0A2): c.78dupC (p.Ser27Glnfs) duplication Pathogenic rs745590426 GRCh37 Chromosome 12, 124197190: 124197190
18 ATP6V0A2 NM_012463.3(ATP6V0A2): c.78dupC (p.Ser27Glnfs) duplication Pathogenic rs745590426 GRCh38 Chromosome 12, 123712643: 123712643
19 ATP6V0A2 NM_012463.3(ATP6V0A2): c.1590C> T (p.Pro530=) single nucleotide variant Conflicting interpretations of pathogenicity rs80355657 GRCh38 Chromosome 12, 123744957: 123744957
20 ATP6V0A2 NM_012463.3(ATP6V0A2): c.1590C> T (p.Pro530=) single nucleotide variant Conflicting interpretations of pathogenicity rs80355657 GRCh37 Chromosome 12, 124229504: 124229504
21 ALG9 NM_024740.2(ALG9): c.1659C> T (p.Pro553=) single nucleotide variant Conflicting interpretations of pathogenicity rs2276263 GRCh37 Chromosome 11, 111680441: 111680441
22 ALG9 NM_024740.2(ALG9): c.1659C> T (p.Pro553=) single nucleotide variant Conflicting interpretations of pathogenicity rs2276263 GRCh38 Chromosome 11, 111809717: 111809717
23 ALG9 NM_024740.2(ALG9): c.1794C> T (p.Tyr598=) single nucleotide variant Benign/Likely benign rs77191760 GRCh37 Chromosome 11, 111657184: 111657184
24 ALG9 NM_024740.2(ALG9): c.1794C> T (p.Tyr598=) single nucleotide variant Benign/Likely benign rs77191760 GRCh38 Chromosome 11, 111786460: 111786460
25 ALG9 NM_024740.2(ALG9): c.896-3C> T single nucleotide variant Conflicting interpretations of pathogenicity rs782063335 GRCh37 Chromosome 11, 111715449: 111715449
26 ALG9 NM_024740.2(ALG9): c.896-3C> T single nucleotide variant Conflicting interpretations of pathogenicity rs782063335 GRCh38 Chromosome 11, 111844726: 111844726
27 ALG9 NM_024740.2(ALG9): c.1383C> T (p.Thr461=) single nucleotide variant Conflicting interpretations of pathogenicity rs45516107 GRCh37 Chromosome 11, 111708280: 111708280
28 ALG9 NM_024740.2(ALG9): c.1383C> T (p.Thr461=) single nucleotide variant Conflicting interpretations of pathogenicity rs45516107 GRCh38 Chromosome 11, 111837557: 111837557
29 ATP6V0A2 NM_012463.3(ATP6V0A2): c.2384C> T (p.Ala795Val) single nucleotide variant Conflicting interpretations of pathogenicity rs139509075 GRCh38 Chromosome 12, 123756905: 123756905
30 ATP6V0A2 NM_012463.3(ATP6V0A2): c.2384C> T (p.Ala795Val) single nucleotide variant Conflicting interpretations of pathogenicity rs139509075 GRCh37 Chromosome 12, 124241452: 124241452
31 ALG9 ALG9, GLU359LYS single nucleotide variant Pathogenic
32 ALG9 NM_024740.2(ALG9): c.129C> T (p.Thr43=) single nucleotide variant Uncertain significance rs1311317470 GRCh38 Chromosome 11, 111871354: 111871354
33 ALG9 NM_024740.2(ALG9): c.129C> T (p.Thr43=) single nucleotide variant Uncertain significance rs1311317470 GRCh37 Chromosome 11, 111742077: 111742077
34 ATP6V0A2 NM_012463.3(ATP6V0A2): c.1936-7C> T single nucleotide variant Likely benign rs370135665 GRCh38 Chromosome 12, 123751103: 123751103
35 ATP6V0A2 NM_012463.3(ATP6V0A2): c.1936-7C> T single nucleotide variant Likely benign rs370135665 GRCh37 Chromosome 12, 124235650: 124235650
36 ATP6V0A2 NM_012463.3(ATP6V0A2): c.2339G> A (p.Arg780His) single nucleotide variant Uncertain significance rs774276857 GRCh38 Chromosome 12, 123756860: 123756860
37 ATP6V0A2 NM_012463.3(ATP6V0A2): c.2339G> A (p.Arg780His) single nucleotide variant Uncertain significance rs774276857 GRCh37 Chromosome 12, 124241407: 124241407

Expression for Congenital Disorder of Glycosylation, Type Il

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Pathways for Congenital Disorder of Glycosylation, Type Il

GO Terms for Congenital Disorder of Glycosylation, Type Il

Sources for Congenital Disorder of Glycosylation, Type Il

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