Van Maldergem syndrome 2

Summary
Definition
A Van Malergem syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the FAT4 gene on chromosome 4q28.
Super Class
Van Maldergem syndrome
Disease Ontology
DOID:0080586
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
79633 FAT4 FAT atypical cadherin 4
Displaying 1 entry
Gene ID Gene Symbol Description Source
33627 ft fat
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q6V0I7 Protocadherin Fat 4
Displaying 1 entry
UniProt ID Protein Name Source
P33450 Cadherin-related tumor suppressor

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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: April 7, 2025