CDG1L
MCID: CNG198
MIFTS: 31

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 57 13
Cdg Il 57 75
Cdg1l 57 75
Cdgil 57 75
Glycosylation, Congenital Disorder of, Type Il 40
Congenital Disorder of Glycosylation Type Il 75
Congenital Disorder of Glycosylation Type 1l 73
Congenital Disorder of Glycosylation 1l 75
Cdg Il; Cdgil 57
Cdg-Il 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype
onset at birth or in early infancy


HPO:

32
congenital disorder of glycosylation, type il:
Onset and clinical course phenotypic variability
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Congenital Disorder of Glycosylation, Type Il

UniProtKB/Swiss-Prot : 75 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, skin and brain, and related phenotypes are hypertelorism and frontal bossing

OMIM : 57 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 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 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 29.6 ALG9 ATP6V0A2

Symptoms & Phenotypes for Congenital Disorder of Glycosylation, Type Il

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
esotropia

Head And Neck Neck:
short neck

Neurologic Central Nervous System:
intellectual disability
hyperreflexia
cerebellar atrophy
epileptic encephalopathy
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

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

32 (show all 29)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 frontal bossing 32 HP:0002007
3 intellectual disability 32 HP:0001249
4 seizures 32 HP:0001250
5 hyperreflexia 32 HP:0001347
6 failure to thrive 32 HP:0001508
7 global developmental delay 32 HP:0001263
8 skeletal dysplasia 32 HP:0002652
9 delayed skeletal maturation 32 HP:0002750
10 depressed nasal bridge 32 HP:0005280
11 abnormal facial shape 32 very rare (1%) HP:0001999
12 short nose 32 HP:0003196
13 microcephaly 32 HP:0000252
14 brachycephaly 32 HP:0000248
15 ascites 32 HP:0001541
16 long philtrum 32 HP:0000343
17 edema 32 HP:0000969
18 wide intermamillary distance 32 HP:0006610
19 inverted nipples 32 HP:0003186
20 cerebellar atrophy 32 HP:0001272
21 generalized hypotonia 32 HP:0001290
22 hepatosplenomegaly 32 HP:0001433
23 esotropia 32 HP:0000565
24 epileptic encephalopathy 32 HP:0200134
25 poor speech 32 HP:0002465
26 pericardial effusion 32 HP:0001698
27 delayed cns myelination 32 HP:0002188
28 global brain atrophy 32 HP:0002283
29 abnormal cardiac septum morphology 32 HP:0001671

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:

41
Bone, Skin, Brain, Kidney, Liver, Heart, Eye

Publications for Congenital Disorder of Glycosylation, Type Il

Articles related to Congenital Disorder of Glycosylation, Type Il:

# Title Authors Year
1
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:

75
# 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 35)
# 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.1538C> T (p.Pro513Leu) single nucleotide variant Benign/Likely benign rs185149177 GRCh37 Chromosome 11, 111706952: 111706952
14 ALG9 NM_024740.2(ALG9): c.1538C> T (p.Pro513Leu) single nucleotide variant Benign/Likely benign rs185149177 GRCh38 Chromosome 11, 111836229: 111836229
15 ATP6V0A2 NM_012463.3(ATP6V0A2): c.78dupC (p.Ser27Glnfs) duplication Pathogenic rs886043377 GRCh37 Chromosome 12, 124197190: 124197190
16 ATP6V0A2 NM_012463.3(ATP6V0A2): c.78dupC (p.Ser27Glnfs) duplication Pathogenic rs886043377 GRCh38 Chromosome 12, 123712643: 123712643
17 ATP6V0A2 NM_012463.3(ATP6V0A2): c.1590C> T (p.Pro530=) single nucleotide variant Conflicting interpretations of pathogenicity rs80355657 GRCh38 Chromosome 12, 123744957: 123744957
18 ATP6V0A2 NM_012463.3(ATP6V0A2): c.1590C> T (p.Pro530=) single nucleotide variant Conflicting interpretations of pathogenicity rs80355657 GRCh37 Chromosome 12, 124229504: 124229504
19 ALG9 NM_024740.2(ALG9): c.1659C> T (p.Pro553=) single nucleotide variant Conflicting interpretations of pathogenicity rs2276263 GRCh37 Chromosome 11, 111680441: 111680441
20 ALG9 NM_024740.2(ALG9): c.1659C> T (p.Pro553=) single nucleotide variant Conflicting interpretations of pathogenicity rs2276263 GRCh38 Chromosome 11, 111809717: 111809717
21 ALG9 NM_024740.2(ALG9): c.1794C> T (p.Tyr598=) single nucleotide variant Benign/Likely benign rs77191760 GRCh37 Chromosome 11, 111657184: 111657184
22 ALG9 NM_024740.2(ALG9): c.1794C> T (p.Tyr598=) single nucleotide variant Benign/Likely benign rs77191760 GRCh38 Chromosome 11, 111786460: 111786460
23 ALG9 NM_024740.2(ALG9): c.896-3C> T single nucleotide variant Conflicting interpretations of pathogenicity rs782063335 GRCh37 Chromosome 11, 111715449: 111715449
24 ALG9 NM_024740.2(ALG9): c.896-3C> T single nucleotide variant Conflicting interpretations of pathogenicity rs782063335 GRCh38 Chromosome 11, 111844726: 111844726
25 ALG9 NM_024740.2(ALG9): c.1383C> T (p.Thr461=) single nucleotide variant Conflicting interpretations of pathogenicity rs45516107 GRCh37 Chromosome 11, 111708280: 111708280
26 ALG9 NM_024740.2(ALG9): c.1383C> T (p.Thr461=) single nucleotide variant Conflicting interpretations of pathogenicity rs45516107 GRCh38 Chromosome 11, 111837557: 111837557
27 ATP6V0A2 NM_012463.3(ATP6V0A2): c.2384C> T (p.Ala795Val) single nucleotide variant Conflicting interpretations of pathogenicity rs139509075 GRCh38 Chromosome 12, 123756905: 123756905
28 ATP6V0A2 NM_012463.3(ATP6V0A2): c.2384C> T (p.Ala795Val) single nucleotide variant Conflicting interpretations of pathogenicity rs139509075 GRCh37 Chromosome 12, 124241452: 124241452
29 ALG9 ALG9, GLU359LYS single nucleotide variant Pathogenic
30 ALG9 NM_024740.2(ALG9): c.129C> T (p.Thr43=) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 111742077: 111742077
31 ALG9 NM_024740.2(ALG9): c.129C> T (p.Thr43=) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 111871354: 111871354
32 ATP6V0A2 NM_012463.3(ATP6V0A2): c.1936-7C> T single nucleotide variant Likely benign rs370135665 GRCh37 Chromosome 12, 124235650: 124235650
33 ATP6V0A2 NM_012463.3(ATP6V0A2): c.1936-7C> T single nucleotide variant Likely benign rs370135665 GRCh38 Chromosome 12, 123751103: 123751103
34 ATP6V0A2 NM_012463.3(ATP6V0A2): c.2339G> A (p.Arg780His) single nucleotide variant Uncertain significance rs774276857 GRCh37 Chromosome 12, 124241407: 124241407
35 ATP6V0A2 NM_012463.3(ATP6V0A2): c.2339G> A (p.Arg780His) single nucleotide variant Uncertain significance rs774276857 GRCh38 Chromosome 12, 123756860: 123756860

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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