cutis laxa

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Information
Disease name
cutis laxa
Disease ID
DOID:3144
Description
"A skin disease characterized by loose, hanging, wrinkled skin lacking in elasticity." [url:http\://en.wikipedia.org/wiki/Cutis_laxa, url:http\://ghr.nlm.nih.gov/condition/cutis-laxa, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/175/viewAbstract]
Disease area statistics
Chromosome band
Gene symbol Chromosome Start Stop The number of variant
ELN 7 74,028,188 74,068,700 12
Annotation
Genes Mutation Description Source Links
NCT ID Status Phase Summary Start date Completion date
NCT01658163 Completed Use of 2-octyl-cyanoacrylate Together With a Self-adhering Mesh June 2009 September 2011
NCT03887208 Completed Phase 1/Phase 2 Therapy of Scars and Cutis Laxa With Autologous Adipose Derived Mesenchymal Stem Cells January 31, 2018 January 18, 2020
NCT06330324 Enrolling by invitation Reproductive Options in Inherited Skin Diseases January 1, 2024 September 1, 2026
NCT06330350 Recruiting Qualitative Study in Patients With Genodermatoses and Healthcare Professionals on Reproductive Counselling January 1, 2024 December 31, 2025
NCT01293864 Terminated Structural Analysis of Human Tissue April 2007 April 2012
Disase is a (Disease Ontology)
DOID:37
Cross Reference ID (Disease Ontology)
GARD:6227
Cross Reference ID (Disease Ontology)
ICD10CM:Q82.8
Cross Reference ID (Disease Ontology)
MESH:D003483
Cross Reference ID (Disease Ontology)
MIM:PS123700
Cross Reference ID (Disease Ontology)
NCI:C84663
Cross Reference ID (Disease Ontology)
ORDO:209
Cross Reference ID (Disease Ontology)
SNOMEDCT_US_2023_03_01:238825007
Cross Reference ID (Disease Ontology)
UMLS_CUI:C0010495
Exact Synonym (Disease Ontology)
loose skin
HPO Human Phenotype ID (Human Phenotype Ontology)
HP:0000973
OMIM Phenotype Series Number (OMIM)
PS123700
OrphaNumber from OrphaNet (Orphanet)
209
MeSH unique ID (MeSH (Medical Subject Headings))
D003483