LAD2
MCID: CNG084
MIFTS: 29

Congenital Disorder of Glycosylation Type 2c (LAD2) malady

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Summaries for Congenital Disorder of Glycosylation Type 2c

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47OMIM, 33MalaCards
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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:47 266265

Aliases & Classifications for Congenital Disorder of Glycosylation Type 2c

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62UMLS, 43NIH Rare Diseases, 22GTR, 49Orphanet, 47OMIM, 45Novoseek, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet
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Classifications:



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 62
congenital leukocyte adherence deficiency 62
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 Orphanet59 234583001

Related Diseases for Congenital Disorder of Glycosylation Type 2c

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17GeneCards, 18GeneDecks
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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

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47OMIM
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Symptoms by clinical synopsis from OMIM:

266265

Clinical features from OMIM:

266265

Drugs & Therapeutics for Congenital Disorder of Glycosylation Type 2c

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Congenital Disorder of Glycosylation Type 2c

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

Genetic Tests for Congenital Disorder of Glycosylation Type 2c

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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

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

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Publications for Congenital Disorder of Glycosylation Type 2c

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Variations for Congenital Disorder of Glycosylation Type 2c

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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Congenital Disorder of Glycosylation Type 2c:

64
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

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

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

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

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

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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Congenital Disorder of Glycosylation Type 2c

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet