CDG1CC
MCID: CNG607
MIFTS: 16

Congenital Disorder of Glycosylation, Type Icc (CDG1CC)

Categories: Genetic diseases, Metabolic diseases

Aliases & Classifications for Congenital Disorder of Glycosylation, Type Icc

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

Name: Congenital Disorder of Glycosylation, Type Icc 56 73 29 6
Cdg1cc 56 73
Congenital Disorder of Glycosylation Type Icc 12
Congenital Disorder of Glycosylation Icc 12
Congenital Disorder of Glycosylation 1cc 73

Characteristics:

OMIM:

56
Inheritance:
x-linked recessive

Miscellaneous:
two unrelated boys have been reported (last curated august 2019)


Classifications:



External Ids:

Disease Ontology 12 DOID:0111839
OMIM 56 301031
OMIM Phenotypic Series 56 PS212065
MeSH 43 D018981
MedGen 41 CN262278
UMLS 71 CN262278

Summaries for Congenital Disorder of Glycosylation, Type Icc

UniProtKB/Swiss-Prot : 73 Congenital disorder of glycosylation 1CC: 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. CDG1CC is an X-linked recessive form mainly characterized by intellectual and developmental disability.

MalaCards based summary : Congenital Disorder of Glycosylation, Type Icc, is also known as cdg1cc. An important gene associated with Congenital Disorder of Glycosylation, Type Icc is MAGT1 (Magnesium Transporter 1).

Disease Ontology : 12 A congenital disorder of glycosylation type I characterized by developmental delay, impaired intellectual development, and mild facial dysmorphism associated with abnormal serum transferrin isoelectic focusing consistent with a type 1 pattern that has material basis in hemizygous mutation in MAGT1 on chromosome Xq21.1.

More information from OMIM: 301031 PS212065

Related Diseases for Congenital Disorder of Glycosylation, Type Icc

Symptoms & Phenotypes for Congenital Disorder of Glycosylation, Type Icc

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
developmental delay
impaired intellectual development

Head And Neck Face:
dysmorphic features, mild, nonspecific

Neurologic Behavioral Psychiatric Manifestations:
behavioral abnormalities

Laboratory Abnormalities:
type 1 pattern of abnormal serum transferrin isoelectric focusing consistent with a glycosylation defect

Clinical features from OMIM:

301031

Drugs & Therapeutics for Congenital Disorder of Glycosylation, Type Icc

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

Genetic Tests for Congenital Disorder of Glycosylation, Type Icc

Genetic tests related to Congenital Disorder of Glycosylation, Type Icc:

# Genetic test Affiliating Genes
1 Congenital Disorder of Glycosylation, Type Icc 29

Anatomical Context for Congenital Disorder of Glycosylation, Type Icc

Publications for Congenital Disorder of Glycosylation, Type Icc

Articles related to Congenital Disorder of Glycosylation, Type Icc:

# Title Authors PMID Year
1
Mutations in MAGT1 lead to a glycosylation disorder with a variable phenotype. 56 6
31036665 2019

Variations for Congenital Disorder of Glycosylation, Type Icc

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

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MAGT1 NM_001367916.1(MAGT1):c.972A>C (p.Lys324Asn)SNV Pathogenic 625836 rs373260156 X:77086322-77086322 X:77830825-77830825
2 MAGT1 NM_001367916.1(MAGT1):c.895C>T (p.Arg299Ter)SNV Pathogenic 625837 rs1569547876 X:77096749-77096749 X:77841252-77841252

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

73
# Symbol AA change Variation ID SNP ID
1 MAGT1 p.Lys324Asn VAR_083421

Expression for Congenital Disorder of Glycosylation, Type Icc

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

Pathways for Congenital Disorder of Glycosylation, Type Icc

GO Terms for Congenital Disorder of Glycosylation, Type Icc

Sources for Congenital Disorder of Glycosylation, Type Icc

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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