MCID: CNG198
MIFTS: 28

Congenital Disorder of Glycosylation, Type Il

Categories: Genetic diseases, Neuronal diseases, Liver diseases, Skin diseases, Metabolic diseases, Rare 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 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:
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, brain and kidney, and related phenotypes are seizures and failure to thrive

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

# Related Disease Score Top Affiliating Genes
1 congenital disorder of glycosylation, type in 9.9

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 10)
# Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 failure to thrive 32 HP:0001508
3 global developmental delay 32 HP:0001263
4 inverted nipples 32 HP:0003186
5 generalized hypotonia 32 HP:0001290
6 hepatosplenomegaly 32 HP:0001433
7 esotropia 32 HP:0000565
8 pericardial effusion 32 HP:0001698
9 delayed cns myelination 32 HP:0002188
10 global brain atrophy 32 HP:0002283

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, Brain, Kidney, Heart

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 23)
# 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 ALG9 NM_024740.2(ALG9): c.1538C> T (p.Pro513Leu) single nucleotide variant Benign/Likely benign rs185149177 GRCh37 Chromosome 11, 111706952: 111706952
6 ALG9 NM_024740.2(ALG9): c.1538C> T (p.Pro513Leu) single nucleotide variant Benign/Likely benign rs185149177 GRCh38 Chromosome 11, 111836229: 111836229
7 ATP6V0A2 NM_012463.3(ATP6V0A2): c.1590C> T (p.Pro530=) single nucleotide variant Conflicting interpretations of pathogenicity rs80355657 GRCh37 Chromosome 12, 124229504: 124229504
8 ATP6V0A2 NM_012463.3(ATP6V0A2): c.1590C> T (p.Pro530=) single nucleotide variant Conflicting interpretations of pathogenicity rs80355657 GRCh38 Chromosome 12, 123744957: 123744957
9 ALG9 NM_024740.2(ALG9): c.1659C> T (p.Pro553=) single nucleotide variant Benign rs2276263 GRCh37 Chromosome 11, 111680441: 111680441
10 ALG9 NM_024740.2(ALG9): c.1659C> T (p.Pro553=) single nucleotide variant Benign rs2276263 GRCh38 Chromosome 11, 111809717: 111809717
11 ALG9 NM_024740.2(ALG9): c.1794C> T (p.Tyr598=) single nucleotide variant Benign/Likely benign rs77191760 GRCh37 Chromosome 11, 111657184: 111657184
12 ALG9 NM_024740.2(ALG9): c.1794C> T (p.Tyr598=) single nucleotide variant Benign/Likely benign rs77191760 GRCh38 Chromosome 11, 111786460: 111786460
13 ALG9 NM_024740.2(ALG9): c.896-3C> T single nucleotide variant Conflicting interpretations of pathogenicity rs782063335 GRCh37 Chromosome 11, 111715449: 111715449
14 ALG9 NM_024740.2(ALG9): c.896-3C> T single nucleotide variant Conflicting interpretations of pathogenicity rs782063335 GRCh38 Chromosome 11, 111844726: 111844726
15 ALG9 NM_024740.2(ALG9): c.1383C> T (p.Thr461=) single nucleotide variant Conflicting interpretations of pathogenicity rs45516107 GRCh37 Chromosome 11, 111708280: 111708280
16 ALG9 NM_024740.2(ALG9): c.1383C> T (p.Thr461=) single nucleotide variant Conflicting interpretations of pathogenicity rs45516107 GRCh38 Chromosome 11, 111837557: 111837557
17 ALG9 ALG9, GLU359LYS single nucleotide variant Pathogenic
18 ALG9 NM_024740.2(ALG9): c.129C> T (p.Thr43=) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 111871354: 111871354
19 ALG9 NM_024740.2(ALG9): c.129C> T (p.Thr43=) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 111742077: 111742077
20 ATP6V0A2 NM_012463.3(ATP6V0A2): c.1936-7C> T single nucleotide variant Likely benign rs370135665 GRCh37 Chromosome 12, 124235650: 124235650
21 ATP6V0A2 NM_012463.3(ATP6V0A2): c.1936-7C> T single nucleotide variant Likely benign rs370135665 GRCh38 Chromosome 12, 123751103: 123751103
22 ATP6V0A2 NM_012463.3(ATP6V0A2): c.2339G> A (p.Arg780His) single nucleotide variant Uncertain significance rs774276857 GRCh38 Chromosome 12, 123756860: 123756860
23 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

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

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....