piebaldism

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Information
Disease name
piebaldism
Disease ID
DOID:3263
Description
"An integumentary system disease characterized by congenital absence of melanocytes in areas of the skin and hair that has_material_basis_in heterozygous mutation in the KIT gene on chromosome 4q12." [url:https\://pubmed.ncbi.nlm.nih.gov/32975012/, url:https\://www.ncbi.nlm.nih.gov/pubmed/15485525, url:https\://www.ncbi.nlm.nih.gov/pubmed/1717985]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
Genes Mutation Description Source Links
NCT ID Status Phase Summary Start date Completion date
NCT02156427 Completed Phase 3 Evaluation of Non-cultured Epidermal Cellular Grafting vs Hyaluronic Acid for Repigmenting Vitiligo and Piebaldism April 29, 2014 April 10, 2018
NCT02458417 Completed Phase 4 Autologous Cell Suspension Grafting Using ReCell in Vitiligo and Piebaldism Patients May 2015 January 2016
NCT01377077 Unknown status Phase 4 Punchgrafting Techniques for Vitiligo June 2011 December 2012
NCT01640678 Unknown status Phase 4 Autologous Cell Suspension Grafting Using ReCell in Vitiligo and Piebaldism Patients June 2012 December 2013
Disase is a (Disease Ontology)
DOID:16
Cross Reference ID (Disease Ontology)
GARD:4344
Cross Reference ID (Disease Ontology)
ICD10CM:E70.39
Cross Reference ID (Disease Ontology)
MESH:D016116
Cross Reference ID (Disease Ontology)
MIM:172800
Cross Reference ID (Disease Ontology)
NCI:C85009
Cross Reference ID (Disease Ontology)
ORDO:2884
Cross Reference ID (Disease Ontology)
SNOMEDCT_US_2023_03_01:718122005
Cross Reference ID (Disease Ontology)
UMLS_CUI:C0080024
Exact Synonym (Disease Ontology)
Partial albinism
Exact Synonym (Disease Ontology)
PIEBALD TRAIT
HPO Human Phenotype ID (Human Phenotype Ontology)
HP:0007544
OrphaNumber from OrphaNet (Orphanet)
2884
MeSH unique ID (MeSH (Medical Subject Headings))
D016116