LAD2
MCID: CNG084
MIFTS: 21

Congenital Disorder of Glycosylation Type 2c (LAD2) malady

Neuronal, Metabolic, Blood categories

Summaries for Congenital Disorder of Glycosylation Type 2c

Sources:
47OMIM, 33MalaCards
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MalaCards: Congenital Disorder of Glycosylation Type 2c, also known as rambam-hasharon syndrome, is related to t lymphocyte deficiency and t cell deficiency. An important gene associated with Congenital Disorder of Glycosylation Type 2c is SLC35C1 (solute carrier family 35 (GDP-fucose transporter), member C1).

Description from OMIM:47 266265

Aliases & Classifications for Congenital Disorder of Glycosylation Type 2c

Sources:
61UMLS, 43NIH Rare Diseases, 22GTR, 49Orphanet, 47OMIM, 45Novoseek, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal, Metabolic, Blood


Characteristics (Orphanet epidemiological data):

49
rambam-hasharon syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Childhood; Age of death: Child / adolescent


Aliases & Descriptions:

congenital disorder of glycosylation type 2c 43 22
rambam-hasharon syndrome 43 49
cdg2c 43 49
congenital disorder of glycosylation, type iic 47
congenital disorder of glycosylation, type 2c 61
congenital leukocyte adherence deficiency 61
leukocyte adhesion deficiency, type ii 45
leukocyte adhesion deficiency type ii 49
leukocyte adhesion deficiency type 2 43
cdg syndrome type iic 49
cdg-iic 49
cdg 2c 43
lad-ii 49
lad2 43


External Ids:

OMIM47 266265
ICD10 via Orphanet26 D84.8
SNOMED-CT via Orphanet58 234583001

Related Diseases for Congenital Disorder of Glycosylation Type 2c

Sources:
17GeneCards, 18GeneDecks
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Diseases in the congenital disorder of glycosylation family:

congenital disorder of glycosylation type ii congenital disorder of glycosylation type i
congenital disorder of glycosylation type 1a congenital disorder of glycosylation type 1b
congenital disorder of glycosylation type 1c congenital disorder of glycosylation type 1e
congenital disorder of glycosylation type 1f congenital disorder of glycosylation type 1i
congenital disorder of glycosylation type 2a congenital disorder of glycosylation type 1d
congenital disorder of glycosylation type 1g congenital disorder of glycosylation type 1h
congenital disorder of glycosylation type 1j congenital disorder of glycosylation type 1k
congenital disorder of glycosylation type 1l congenital disorder of glycosylation type 2b
congenital disorder of glycosylation type 2c congenital disorder of glycosylation type 2d
congenital disorder of glycosylation type 2e congenital disorder of glycosylation type 2g
congenital disorder of glycosylation, type ir congenital disorder of glycosylation, type it
congenital disorder of glycosylation, type io congenital disorder of glycosylation, type iv
congenital disorder of glycosylation, type iq congenital disorder of glycosylation, type iif
congenital disorder of glycosylation, type iii congenital disorder of glycosylation, type iu
congenital disorder of glycosylation, type im congenital disorder of glycosylation, type il
congenital disorder of glycosylation, type ij congenital disorder of glycosylation, type iw
congenital disorder of glycosylation, type ip congenital disorder of glycosylation, type ik
congenital disorder of glycosylation, type iih

Diseases related to Congenital Disorder of Glycosylation Type 2c via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1t lymphocyte deficiency10.4
2t cell deficiency10.4
3leukocyte adhesion deficiency10.4
4b cell deficiency10.3
5leukocyte adhesion deficiency type 110.2
6leukocyte adhesion deficiency, type iii10.2
7hypoxia10.2
8leucocyte adhesion defect10.0

Graphical network of diseases related to Congenital Disorder of Glycosylation Type 2c:



Diseases related to congenital disorder of glycosylation type 2c

Clinical Features for Congenital Disorder of Glycosylation Type 2c

Sources:
47OMIM
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Clinical features from OMIM:

266265

Clinical synopsis from OMIM:

266265

Drugs & Therapeutics for Congenital Disorder of Glycosylation Type 2c

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Congenital Disorder of Glycosylation Type 2c

Drug clinical trials:

Search ClinicalTrials for Congenital Disorder of Glycosylation Type 2c

Search NIH Clinical Center for Congenital Disorder of Glycosylation Type 2c

Search CenterWatch for Congenital Disorder of Glycosylation Type 2c

Genetic Tests for Congenital Disorder of Glycosylation Type 2c

Sources:
22GTR
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Genetic tests related to Congenital Disorder of Glycosylation Type 2c:

id Genetic test Affiliating Genes
1 Congenital Disorder Of Glycosylation Type 2c22

Anatomical Context for Congenital Disorder of Glycosylation Type 2c

Animal Models for Congenital Disorder of Glycosylation Type 2c or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Congenital Disorder of Glycosylation Type 2c

Genetic Variations for Congenital Disorder of Glycosylation Type 2c

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Congenital Disorder of Glycosylation Type 2c:

63
id Symbol AA change Variation SNP ID
1SLC35C1p.Arg147CysVAR_012347rs28939087
2SLC35C1p.Thr308ArgVAR_012348rs28937886

Expression for genes affiliated with Congenital Disorder of Glycosylation Type 2c

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Congenital Disorder of Glycosylation Type 2c

Search GEO for disease gene expression data for Congenital Disorder of Glycosylation Type 2c.

Pathways for genes affiliated with Congenital Disorder of Glycosylation Type 2c

Compounds for genes affiliated with Congenital Disorder of Glycosylation Type 2c

GO Terms for genes affiliated with Congenital Disorder of Glycosylation Type 2c

Products for genes affiliated with Congenital Disorder of Glycosylation Type 2c

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Congenital Disorder of Glycosylation Type 2c

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet