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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MalaCards based summary: Congenital Disorder of Glycosylation Type 2c, also known as rambam-hasharon syndrome, is related to endotheliitis and congenital disorder of glycosylation, and has symptoms including An important gene associated with Congenital Disorder of Glycosylation Type 2c is SLC35C1 (solute carrier family 35 (GDP-fucose transporter), member C1). Affiliated tissues include neutrophil.

Description from OMIM:46 266265

Aliases & Classifications for Congenital Disorder of Glycosylation Type 2c

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Sources:
42NIH Rare Diseases, 22GTR, 46OMIM, 44Novoseek, 48Orphanet, 62UMLS, 26ICD10 via Orphanet
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Congenital Disorder of Glycosylation Type 2c, Aliases & Descriptions:

Name: 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 62
Congenital Leukocyte Adherence Deficiency 62
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


Classifications:



Characteristics (Orphanet epidemiological data):

48
rambam-hasharon syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Childhood; Age of death: Child / adolescent


External Ids:

OMIM46 266265
ICD10 via Orphanet26 D84.8

Related Diseases for Congenital Disorder of Glycosylation Type 2c

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Diseases in the Congenital Disorder of Glycosylation Type I family:

Congenital Disorder of Glycosylation Type Ii Congenital Disorder of Glycosylation
Congenital Disorder of Glycosylation Type 1a Congenital Disorder of Glycosylation Type 1b
Congenital Disorder of Glycosylation Type 1c Congenital Disorder of Glycosylation Type 1d
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 2g
Congenital Disorder of Glycosylation Type Iii 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 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 glycosylation10.3
3hypoxia10.2
4leukocyte adhesion deficiency10.1
5leucocyte adhesion defect10.1

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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Symptoms by clinical synopsis from OMIM:

266265

Clinical features from OMIM:

266265

HPO human phenotypes related to Congenital Disorder of Glycosylation Type 2c:

(show all 14)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 microcephaly HP:0000252
3 otitis media HP:0000388
4 periodontitis HP:0000704
5 seizures HP:0001250
6 muscular hypotonia HP:0001252
7 abnormality of the integument HP:0001574
8 abnormality of metabolism/homeostasis HP:0001939
9 pneumonia HP:0002090
10 cerebral cortical atrophy HP:0002120
11 short stature HP:0004322
12 reduction of neutrophil motility HP:0005400
13 intellectual disability, progressive HP:0006887
14 intellectual disability, severe HP:0010864

Drugs & Therapeutics for Congenital Disorder of Glycosylation Type 2c

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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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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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MalaCards organs/tissues related to Congenital Disorder of Glycosylation Type 2c:

32
Neutrophil

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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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:

6
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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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

Sources for Congenital Disorder of Glycosylation Type 2c

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet