hypohidrotic ectodermal dysplasia
Information
- Disease name
- hypohidrotic ectodermal dysplasia
- Disease ID
- DOID:14793
- Description
- "An ectodermal dysplasia that is characterized by malformation of ectodermal (skin, hair, teeth and sweat glands) structures including hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth)." [url:http\://ghr.nlm.nih.gov/condition/hypohidrotic-ectodermal-dysplasia, url:http\://www.ncbi.nlm.nih.gov/books/NBK1112/, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=238468]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT01109290 | Completed | Characterization of Sweat Gland Function in Patients With Recessively Inherited Hypohidrotic Ectodermal Dysplasia | April 2010 | June 2011 | |
| NCT01293565 | Completed | Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected by Hypohidrotic Ectodermal Dysplasia - A | February 2011 | July 2011 | |
| NCT01386775 | Completed | Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia: Intrafamilial Variation | June 2011 | September 2011 | |
| NCT01398397 | Completed | Medical Record Review of Hypohidrotic Ectodermal Dysplasia Clinical Phenotype | April 2011 | ||
| NCT01398813 | Completed | X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED) Carrier Outlook Toward Reproduction Survey | July 2011 | July 2013 | |
| NCT01629927 | Completed | Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia (ECP-012) | March 2012 | June 2012 | |
| NCT01629940 | Completed | Phenotypic and Genetic Properties in Males at Risk for X-linked Hypohidrotic Ectodermal Dysplasia: Evaluation of an Early Diagnosis Technology and Tests to Assess Nutritional Status | June 2012 | October 2012 | |
| NCT04741412 | Completed | Pediatric SARS-CoV-2 Infections: Course of COVID-19, Immune Responses, Complications and Long-term Consequences | June 3, 2020 | May 31, 2021 | |
| NCT05378932 | Completed | N/A | Impact of Dysregulation of Core Body Temperature on Sleep in Patients With Hypohidrotic Ectodermal Dysplasia | June 10, 2022 | January 16, 2024 |
- Disase is a (Disease Ontology)
- DOID:2121
- Cross Reference ID (Disease Ontology)
- GARD:76
- Cross Reference ID (Disease Ontology)
- MESH:D053358
- Cross Reference ID (Disease Ontology)
- NCI:C84562
- Cross Reference ID (Disease Ontology)
- ORDO:238468
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:239007005
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0162359
- HPO Human Phenotype ID (Human Phenotype Ontology)
- HP:0007607
- OrphaNumber from OrphaNet (Orphanet)
- 238468