LAD2
MCID: CNG084
MIFTS: 29

Congenital Disorder of Glycosylation Type 2c (LAD2) malady

Genetic diseases, Rare diseases, Neuronal diseases, Blood diseases, Liver diseases, Ear diseases, Fetal diseases, Skin diseases, Cardiovascular diseases, Gastrointestinal diseases, Nephrological diseases, Bone diseases, Eye diseases, Muscle diseases categories

Summaries for Congenital Disorder of Glycosylation Type 2c

About this section
Sources:
48OMIM, 34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
MalaCards: Congenital Disorder of Glycosylation Type 2c, also known as rambam-hasharon syndrome, is related to endotheliitis and congenital disorder of glycosylation. 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:48 266265

Aliases & Classifications for Congenital Disorder of Glycosylation Type 2c

About this section
Sources:
63UMLS, 44NIH Rare Diseases, 23GTR, 50Orphanet, 48OMIM, 46Novoseek, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet
See all sources

Classifications:



Characteristics (Orphanet epidemiological data):

50
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 44 23
rambam-hasharon syndrome 44 50
cdg2c 44 50
congenital disorder of glycosylation, type iic 48
congenital disorder of glycosylation, type 2c 63
congenital leukocyte adherence deficiency 63
leukocyte adhesion deficiency, type ii 46
leukocyte adhesion deficiency type ii 50
leukocyte adhesion deficiency type 2 44
cdg syndrome type iic 50
cdg-iic 50
cdg 2c 44
lad-ii 50
lad2 44


External Ids:

OMIM48 266265
ICD10 via Orphanet27 D84.8
SNOMED-CT via Orphanet60 234583001

Related Diseases for Congenital Disorder of Glycosylation Type 2c

About this section
Sources:
18GeneCards, 19GeneDecks
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 1d
Congenital Disorder of Glycosylation Type 1e Congenital Disorder of Glycosylation Type 1f
Congenital Disorder of Glycosylation Type 1g Congenital Disorder of Glycosylation Type 1h
Congenital Disorder of Glycosylation Type 1i Congenital Disorder of Glycosylation Type 1j
Congenital Disorder of Glycosylation Type 1k Congenital Disorder of Glycosylation Type 1l
Congenital Disorder of Glycosylation Type 2a 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 Ix 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
1endotheliitis10.3
2congenital disorder of glycosylation10.2
3hypoxia10.2
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

Symptoms for Congenital Disorder of Glycosylation Type 2c

About this section
Sources:
48OMIM
See all sources

Symptoms by clinical synopsis from OMIM:

266265

Clinical features from OMIM:

266265

Drugs & Therapeutics for Congenital Disorder of Glycosylation Type 2c

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-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:
23GTR
See all sources

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

id Genetic test Affiliating Genes
1 Congenital Disorder of Glycosylation Type 2c23

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

Variations for Congenital Disorder of Glycosylation Type 2c

About this section
Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
See all sources

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

65
id Symbol AA change Variation ID SNP ID
1SLC35C1p.Arg147CysVAR_012347rs28939087
2SLC35C1p.Thr308ArgVAR_012348rs28937886

Clinvar genetic disease variations for Congenital Disorder of Glycosylation Type 2c:

1
id Gene Name Type Significance SNP ID Assembly Location
1SLC35C1SLC35C1, GLU31TERundetermined variantPathogenic
2SLC35C1SLC35C1, 3-BP DEL, 501CTTdeletionPathogenic
3SLC35C1NM_018389.4(SLC35C1): c.439C> T (p.Arg147Cys)single nucleotide variantPathogenicrs28939087GRCh37Chr 11, 45827791: 45827791
4SLC35C1NM_018389.4(SLC35C1): c.923C> G (p.Thr308Arg)single nucleotide variantPathogenicrs28937886GRCh37Chr 11, 45832714: 45832714

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

About this section
Sources:
2BioGPS, 16Gene 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
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet