Details of Disease | DrugMAP

General Information of Disease (ID: DIS6VQ2J)

Disease Name	Linear nevus sebaceous syndrome
Synonyms	SFM; SCHIMMELPENNING-FEUERSTEIN-MIMS syndrome; organoid nevus phakomatosis; epidermal nevus syndrome; SFM syndrome; organoid Nevus phakomatosis; linear sebaceous Nevus syndrome; Jadassohn Nevus phakomatosis; Sfm syndrome; Schimmelpenning Feuerstein Mims syndrome; Epidermal Nevus syndrome, formerly; JNP; sebaceous Nevus syndrome, linear; sebaceous nevus syndrome linear; Jadassohn nevus phakomatosis; Solomon syndrome; Schimmelpenning syndrome; organoid nevus syndrome; linear sebaceous Nevus; Nevus sebaceus syndrome; Nevus sebaceous of Jadassohn; Nevus sebaceus of Jadassohn; Nevus Sebaceus Syndrome; Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic; organoid Nevus
Definition	Linear nevus sebaceous syndrome (LNSS) is characterized by the association of a large sebaceous nevus, usually appearing on the face or on the scalp, with a broad spectrum of abnormalities that may affect every organ system, including the central nervous system (brain neoplasms, hemimegalencephaly and lateral ventricle enlargement).
Disease Hierarchy	DIS0I87H: Hamartoma DISD715V: Hereditary neurological disease DISNC94N: Palpebral nevus DIS7GG31: Developmental defect during embryogenesis DISSCALK: Hereditary skin disorder DIS6VQ2J: Linear nevus sebaceous syndrome
Disease Identifiers	MONDO ID MONDO_0008097 MESH ID D054000 UMLS CUI C4552097 OMIM ID 163200 MedGen ID 1646345 HPO ID HP:0010817 Orphanet ID 2612 SNOMED CT ID 239112008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
HRAS	TT28ZON	Limited	Genetic Variation	[1]
KRAS	TTRHMTC	Strong	Autosomal dominant	[2]
KRAS	TTM8FR7	Strong	Genetic Variation	[3]
------------------------------------------------------------------------------------

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
KRAS	OT78QCN8	Strong	Autosomal dominant	[2]
TPSG1	OTDESHKT	Strong	Biomarker	[4]
------------------------------------------------------------------------------------

References

1	Pigmented trichoblastoma developed in a sebaceous nevus: HRAS mutation as a common molecular driver.Pathol Res Pract. 2017 Jul;213(7):860-862. doi: 10.1016/j.prp.2017.03.012. Epub 2017 Mar 30.
2	Oculoectodermal syndrome is a mosaic RASopathy associated with KRAS alterations. Am J Med Genet A. 2015 Jul;167(7):1429-35. doi: 10.1002/ajmg.a.37048. Epub 2015 Mar 21.
3	Phacomatosis Pigmentokeratotica: A Mosaic RASopathy with Malignant Potential.Pediatr Dermatol. 2017 May;34(3):352-355. doi: 10.1111/pde.13119.
4	Peripheral lymph node stromal cells can promote growth and tumorigenicity of breast carcinoma cells through the release of IGF-I and EGF.Int J Cancer. 2002 Jul 1;100(1):2-8. doi: 10.1002/ijc.10481.