congenital disorder of glycosylation type IIc

Summary
Synonym
  • CDG IIc
  • CDG2C
  • CDGIIc
  • Rambam-Hasharon syndrome
Definition
A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the SLC35C1 gene on chromosome 11p11.2.
Super Class
autosomal recessive disease congenital disorder of glycosylation type II
External Links
Disease Ontology
DOID:0070255
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 5 entries
Gene ID Gene Symbol Description Source
1717 DHCR7 7-dehydrocholesterol reductase
1738 DLD dihydrolipoamide dehydrogenase
2526 FUT4 fucosyltransferase 4
2762 GMDS GDP-mannose 4,6-dehydratase
55343 SLC35C1 solute carrier family 35 member C1
Displaying 1 entry
Gene ID Gene Symbol Description Source
40981 nac neuronally altered carbohydrate
Related Glycoprotein
The Human Phenotype Ontology
Displaying entries 1 - 10 of 75 in total
HPO ID HPO Term
HP:0000010 Recurrent urinary tract infections
HP:0000166 Severe periodontitis
HP:0000189 Narrow palate
HP:0000212 Gingival overgrowth
HP:0000252 Microcephaly
HP:0000280 Coarse facial features
HP:0000294 Low anterior hairline
HP:0000303 Mandibular prognathia
HP:0000316 Hypertelorism
HP:0000385 Small earlobe
Displaying 1 entry
Gene ID Gene Symbol Description
55343 SLC35C1 solute carrier family 35 member C1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024