linear nevus sebaceous syndrome

Summary
Synonym
  • JNP
  • Jadassohn nevus phakomatosis
  • SFM syndrome
  • Schimmelpenning Feuerstein Mims syndrome
  • Schimmelpenning syndrome
  • Solomon syndrome
  • nevus sebaceus of Jadassohn
  • nevus sebaceus syndrome
  • organoid nevus phakomatosis
  • organoid nevus syndrome
Definition
A syndrome characterized by sebaceous nevi typically on the face and associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects that has_material_basis_in somatic mosaic mutations in the NRAS, HRAS, or KRAS genes on chromosomes 1p13.2, 11p15.5, or 12p12.1, respectively.
Super Class
syndrome
External Links
Disease Ontology
DOID:0111530
Mondo Disease Ontology
UMLS
ORDO
OMIM
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
5167 ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P22413 Ectonucleotide pyrophosphatase/phosphodiesterase family member 1

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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