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ectodermal dysplasia 13

Summary
Synonym
  • ECTD13
  • ectodermal dysplasia 13, hair/tooth type
Definition
An ectodermal dysplasia characterized by severe oligodontia accompanied by anomalies of hair and skin that has_material_basis_in homozygous or compound heterozygous mutation in the KREMEN1 gene on chromosome 22q12.1.
Super Class
autosomal recessive disease ectodermal dysplasia
Disease Ontology
DOID:0111650
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
83999 KREMEN1 kringle containing transmembrane protein 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
84035 Kremen1 kringle containing transmembrane protein 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
114107 Kremen1 kringle containing transmembrane protein 1
Displaying 1 entry
Gene ID Gene Symbol Description Source Organism
398249 kremen1.S kringle containing transmembrane protein 1 S homeolog Xenopus laevis (African clawed frog)
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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: December 9, 2024