Cockayne syndrome

Summary
Synonym
  • Neill-Dingwall syndrome
Definition
A syndrome that is characterized by an abnormally small head size (microcephaly), a failure to gain weight and grow at the expected rate (failure to thrive) leading to very short stature, and delayed development.
Super Class
autosomal recessive disease syndrome
External Links
Disease Ontology
DOID:2962
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying entries 21 - 30 of 44 in total
Gene ID Gene Symbol Description Source
2720 GLB1 galactosidase beta 1
2731 GLDC glycine decarboxylase
2821 GPI glucose-6-phosphate isomerase
3339 HSPG2 heparan sulfate proteoglycan 2
4968 OGG1 8-oxoguanine DNA glycosylase
4973 OLR1 oxidized low density lipoprotein receptor 1
5130 PCYT1A phosphate cytidylyltransferase 1A, choline
5224 PGAM2 phosphoglycerate mutase 2
5290 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
5291 PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta

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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