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GTR Home > Conditions/Phenotypes > Linear nevus sebaceous syndrome

Linear nevus sebaceous syndrome

Synonyms
Jadassohn nevus phakomatosis; Linear nevus sebaceous; Linear sebaceous nevus sequence; Nevus sebaceus of Jadassohn; Nevus, Sebaceous of Jadassohn; Organoid nevus phakomatosis; SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC; SFM syndrome; Sebaceous nevus syndrome and hemimegalencephaly
Modes of inheritance
Not genetically inherited (Orphanet)

Summary

Schimmelpenning-Feuerstein-Mims syndrome, also known as linear sebaceous nevus syndrome, is characterized by sebaceous nevi, often on the face, associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects (summary by Happle, 1991 and Ernst et al., 2007). The linear sebaceous nevi follow the lines of Blaschko (Hornstein and Knickenberg, 1974; Bouwes Bavinck and van de Kamp, 1985). All cases are sporadic. The syndrome is believed to be caused by an autosomal dominant lethal mutation that survives by somatic mosaicism (Gorlin et al., 2001). [from OMIM]

Available tests

83 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (83 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: C-BAS/HAS, C-H-RAS, C-HA-RAS1, CTLO, H-RASIDX, HAMSV, HRAS1, RASH1, p21ras, HRAS
    Summary: HRas proto-oncogene, GTPase

  • Also known as: 'C-K-RAS, C-K-RAS, CFC2, K-RAS2A, K-RAS2B, K-RAS4A, K-RAS4B, K-Ras, K-Ras 2, KI-RAS, KRAS1, KRAS2, NS, NS3, OES, RALD, RASK2, c-Ki-ras, c-Ki-ras2, KRAS
    Summary: KRAS proto-oncogene, GTPase

  • Also known as: ALPS4, CMNS, KRAS, N-ras, NCMS, NRAS1, NS6, NRAS
    Summary: NRAS proto-oncogene, GTPase

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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