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 31 - 40 of 44 in total
Gene ID Gene Symbol Description Source
5293 PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta
5294 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma
5315 PKM pyruvate kinase M1/2
5621 PRNP prion protein (Kanno blood group)
5728 PTEN phosphatase and tensin homolog
8658 TNKS tankyrase
8879 SGPL1 sphingosine-1-phosphate lyase 1
9126 SMC3 structural maintenance of chromosomes 3
9365 KL klotho
11285 B4GALT7 beta-1,4-galactosyltransferase 7

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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