Details of Disease

General Information of Disease (ID: DISNC82H)

• Disease Name: Neurocutaneous syndrome
• Synonyms: syndromes, neurocutaneous; neurocutaneous disorder; syndrome, neurocutaneous; Phakomatoses; neuroectodermal dysplasia syndromes; neuroectodermal dysplasia syndrome; syndrome, neuroectodermal dysplasia; Phacomatosis; neurocutaneous disorders; Phacomatoses; phakomatosis; neuroectodermal dysplasia; syndromes, neuroectodermal dysplasia; neurocutaneous syndrome
• Definition: A group of disorders characterized by ectodermal-based malformations and neoplastic growths in the skin, nervous system, and other organs.|A number of genetic and acquired diseases come in this category and may affect one or more of these tissues. However, in some conditions, such as von Hippel-Lindau disease, ectodermal presentation is minimal. Editor note: Phakomatoses are inconsistently defined, and there is a lack of consensus about what conditions are included in this category
• Disease Hierarchy:
  DISCFBRD: Neurological disorder
  DISNC82H: Neurocutaneous syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0042983
  MESH ID: D020752
  UMLS CUI: C0265316
  MedGen ID: 82706
  SNOMED CT ID: 78572006

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 5 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GNA11	TTSRXJW	Limited	Genetic Variation	[1]
ALDH3A2	TTB6UM0	Strong	Genetic Variation	[2]
GNAQ	TTL1SRG	Strong	Genetic Variation	[3]
PIGL	TTQA8DT	Strong	Genetic Variation	[4]
RHOA	TTP2U16	Strong	Biomarker	[5]

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ALDH18A1	OT6W40XU	Strong	Genetic Variation	[6]
AP1S1	OTQ2H8DN	Strong	Genetic Variation	[7]
SNAP29	OTT30ZON	Strong	Genetic Variation	[8]

References

• [1] Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review.Am J Med Genet A. 2019 Jun;179(6):966-977. doi: 10.1002/ajmg.a.61134. Epub 2019 Mar 28.
• [2] Restoration of fatty aldehyde dehydrogenase deficiency in Sjgren-Larsson syndrome.Gene Ther. 2006 Jul;13(13):1021-6. doi: 10.1038/sj.gt.3302743. Epub 2006 Mar 9.
• [3] Leveraging a Sturge-Weber Gene Discovery: An Agenda for FutureResearch.Pediatr Neurol. 2016 May;58:12-24. doi: 10.1016/j.pediatrneurol.2015.11.009. Epub 2016 Mar 16.
• [4] Acute lymphoblastic leukemia in a child with the CHIME neuroectodermal dysplasia syndrome.Am J Med Genet. 1997 Oct 3;72(1):24-9.
• [5] Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome.Nat Genet. 2019 Oct;51(10):1438-1441. doi: 10.1038/s41588-019-0498-4. Epub 2019 Sep 30.
• [6] Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia. Brain. 2015 Aug;138(Pt 8):2191-205. doi: 10.1093/brain/awv143. Epub 2015 May 29.
• [7] Disruption of AP1S1, causing a novel neurocutaneous syndrome, perturbs development of the skin and spinal cord. PLoS Genet. 2008 Dec;4(12):e1000296. doi: 10.1371/journal.pgen.1000296. Epub 2008 Dec 5.
• [8] A mutation in SNAP29, coding for a SNARE protein involved in intracellular trafficking, causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma. Am J Hum Genet. 2005 Aug;77(2):242-51. doi: 10.1086/432556. Epub 2005 Jun 20.