cardiofaciocutaneous syndrome 4

Summary
Synonym
  • CFC4
Definition
A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in the MAPK2K2 gene on chromosome 19p13.3.
Super Class
autosomal dominant disease cardiofaciocutaneous syndrome
Disease Ontology
DOID:0111463
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
5605 MAP2K2 mitogen-activated protein kinase kinase 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
58960 Map2k2 mitogen activated protein kinase kinase 2
The Human Phenotype Ontology
Displaying entries 21 - 30 of 78 in total
HPO ID HPO Term
HP:0000486 Strabismus
HP:0000494 Downslanted palpebral fissures
HP:0000499 Abnormal eyelash morphology
HP:0000504 Abnormality of vision
HP:0000508 Ptosis
HP:0000545 Myopia
HP:0000637 Long palpebral fissure
HP:0000639 Nystagmus
HP:0000648 Optic atrophy
HP:0000767 Pectus excavatum
Displaying 1 entry
Gene ID Gene Symbol Description
3845 KRAS KRAS proto-oncogene, GTPase

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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: February 17, 2025