Bloom syndrome

Summary
Synonym
  • Bloom-Torre-Machacek syndrome
  • Congenital Telangiectatic Erythema syndrome
Definition
A syndrome characterized by sun sensitivity, short stature, predisposition to the development of cancer and genomic instability.
Super Class
autosomal recessive disease syndrome
External Links
Disease Ontology
DOID:2717
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying all 10 entries
Gene ID Gene Symbol Description Source
250 ALPP alkaline phosphatase, placental
353 APRT adenine phosphoribosyltransferase
847 CAT catalase
3931 LCAT lecithin-cholesterol acyltransferase
5315 PKM pyruvate kinase M1/2
5329 PLAUR plasminogen activator, urokinase receptor
6319 SCD stearoyl-CoA desaturase
7374 UNG uracil DNA glycosylase
26033 ATRNL1 attractin like 1
60495 HPSE2 heparanase 2 (inactive)

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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