Muenke Syndrome

Summary
Synonym
  • FGFR3-related craniosynostosis
Definition
A craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has_material_basis_in a pro250 to agr (P250R) heterozygous mutation in the FGFR3 gene on chromosome 4p16.3.
Super Class
autosomal dominant disease craniosynostosis
External Links
Disease Ontology
DOID:0060703
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying entries 1 - 10 of 11 in total
Gene ID Gene Symbol Description Source
1109 AKR1C4 aldo-keto reductase family 1 member C4
1555 CYP2B6 cytochrome P450 family 2 subfamily B member 6
1836 SLC26A2 solute carrier family 26 member 2
2539 G6PD glucose-6-phosphate dehydrogenase
2619 GAS1 growth arrest specific 1
4047 LSS lanosterol synthase
4907 NT5E 5'-nucleotidase ecto
5067 CNTN3 contactin 3
9382 COG1 component of oligomeric golgi complex 1
9993 DGCR2 DiGeorge syndrome critical region gene 2

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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