Details of Disease

General Information of Disease (ID: DISZRYX4)

• Disease Name: Clouston syndrome
• Synonyms: ectodermal dysplasia, hidrotic, 2, formerly; palmoplantar hyperkeratosis and alopecia; ED2; Patel Bixler syndrome; autosomal dominant hidrotic ectodermal dysplasia; ectodermal dysplasia, hidrotic; alopecia, dysplastic nails, palmar and plantar hyperkeratosis; ectodermal dysplasia, hidrotic, 2; Clouston hidrotic ectodermal dysplasia; ectodermal dysplasia 2, Clouston type; ectodermal dysplasia, hidrotic, autosomal dominant; hidrotic ectodermal dysplasia, autosomal dominant; hidrotic ectodermal dysplasia; hidrotic ectodermal dysplasia syndrome; Clouston's syndrome; Clouston's hidrotic ectodermal dysplasia; Clouston syndrome
• Definition: Clouston syndrome (or hidrotic ectodermal dysplasia) is characterized by the clinical triad of nail dystrophy, alopecia, and palmoplantar hyperkeratosis.
• Disease Hierarchy:
  DIS6O9JS: Diffuse palmoplantar keratoderma
  DISLRS4M: Ectodermal dysplasia
  DISZRYX4: Clouston syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0007510
  MESH ID: D004476
  UMLS CUI: C0162361
  OMIM ID: 129500
  MedGen ID: 56416
  HPO ID: HP:0007529
  Orphanet ID: 189
  SNOMED CT ID: 54209007

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GJB2	TTRGZX3	Strong	Genetic Variation	[1]
RHOA	TTP2U16	Strong	Biomarker	[2]
GJB6	TTAU8SJ	Definitive	Autosomal dominant	[3]
GJB6	TTAU8SJ	Definitive	Genetic Variation	[4]

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ITGB4	OT28UK84	moderate	Biomarker	[5]
GJB6	OT9QQDZB	Definitive	Autosomal dominant	[3]

References

• [1] Novel mutations in GJB6 and GJB2 in Clouston syndrome.Clin Exp Dermatol. 2015 Oct;40(7):770-3. doi: 10.1111/ced.12654. Epub 2015 Mar 26.
• [2] 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.
• [3] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
• [4] The connexin 30 A88V mutant reduces cochlear gap junction expression and confers long-term protection against hearing loss.J Cell Sci. 2019 Jan 16;132(2):jcs224097. doi: 10.1242/jcs.224097.
• [5] Deletion of the first pair of fibronectin type III repeats of the integrin beta-4 gene is associated with epidermolysis bullosa, pyloric atresia and aplasia cutis congenita in the original Carmi syndrome patients.Am J Med Genet A. 2008 Apr 15;146A(8):1063-6. doi: 10.1002/ajmg.a.31903.