LAD2
MCID: CNG084
MIFTS: 27

Congenital Disorder of Glycosylation Type 2c (LAD2) malady

Neuronal diseases, Metabolic diseases, Blood diseases categories

Summaries for Congenital Disorder of Glycosylation Type 2c

About this section
Sources:
46OMIM, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
MalaCards: Congenital Disorder of Glycosylation Type 2c, also known as rambam-hasharon syndrome, is related to leukocyte adhesion deficiency type 1 and leukocyte adhesion deficiency, type iii. 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:46 266265

Aliases & Classifications for Congenital Disorder of Glycosylation Type 2c

About this section
Sources:
42NIH Rare Diseases, 22GTR, 46OMIM, 44Novoseek, 48Orphanet, 60UMLS, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

48
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 42 22
rambam-hasharon syndrome 42 48
cdg2c 42 48
congenital disorder of glycosylation, type iic 46
congenital disorder of glycosylation, type 2c 60
congenital leukocyte adherence deficiency 60
leukocyte adhesion deficiency, type ii 44
leukocyte adhesion deficiency type ii 48
leukocyte adhesion deficiency type 2 42
cdg syndrome type iic 48
cdg-iic 48
lad-ii 48
cdg 2c 42
lad2 42


External Ids:

OMIM46 266265
ICD10 via Orphanet26 D84.8
SNOMED-CT via Orphanet57 234583001

Related Diseases for Congenital Disorder of Glycosylation Type 2c

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Congenital Disorder of Glycosylation Type 1b family:

Congenital Disorder of Glycosylation Type Ii Congenital Disorder of Glycosylation Type I
Congenital Disorder of Glycosylation Congenital Disorder of Glycosylation Type 1a
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
1leukocyte adhesion deficiency type 110.2
2leukocyte adhesion deficiency, type iii10.2
3complement deficiency10.2
4leukocyte adhesion deficiency10.0
5leucocyte 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

About this section
Sources:
46OMIM
See all sources

Clinical features from OMIM:

266265

Clinical synopsis from OMIM:

266265

Drugs & Therapeutics for Congenital Disorder of Glycosylation Type 2c

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
See all sources

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

About this section
Sources:
22GTR
See all sources

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

About this section

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

About this section

Publications for Congenital Disorder of Glycosylation Type 2c

About this section

Genetic Variations for Congenital Disorder of Glycosylation Type 2c

About this section
Sources:
62UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Congenital Disorder of Glycosylation Type 2c:

62
id Symbol AA change Variation ID SNP ID
1SLC35C1p.Arg147CysVAR_012347rs28939087
2SLC35C1p.Thr308ArgVAR_012348rs28937886

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

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

About this section

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

About this section

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

About this section

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Congenital Disorder of Glycosylation Type 2c

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet