Congenital Disorder of Glycosylation, Type Il disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Metabolic diseases Rare diseases Fetal diseases
Anatomical: Neuronal diseases Liver diseases Skin diseases Cardiovascular diseases Mental diseases Blood diseases Gastrointestinal diseases Nephrological diseases Ear diseases Bone diseases Muscle diseases Endocrine diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 608776

MedGen ⁴² C2931006 C1837438

MeSH ⁴⁴ D018981

SNOMED-CT via HPO ⁶⁹ 258211005 16596007 128613002 more

UMLS ⁷³ C2931006

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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)

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Related Diseases for Congenital Disorder of Glycosylation, Type Il

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

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

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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 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

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Drugs & Therapeutics for Congenital Disorder of Glycosylation, Type Il

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

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Genetic Tests for Congenital Disorder of Glycosylation, Type Il

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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

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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 )	Frank C.G....Hennet T.	2004

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Genes for Congenital Disorder of Glycosylation, Type Il

Genes related to Congenital Disorder of Glycosylation, Type Il (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	ALG9	ALG9, Alpha-1,2-Mannosyltransferase	Protein Coding	1227.49	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ GeneCards inferred via : Publications Summaries (show sections)	15945070 20301507 15148656 (more) 26453364

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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

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Expression for Congenital Disorder of Glycosylation, Type Il

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

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Pathways for Congenital Disorder of Glycosylation, Type Il

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GO Terms for Congenital Disorder of Glycosylation, Type Il

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