KEGG DISEASE: Cardiomyopathy, dilated, with woolly hair and keratoderma

DISEASE: Cardiomyopathy, dilated, with woolly hair and keratoderma

Entry

H00893                      Disease

Name

Cardiomyopathy, dilated, with woolly hair and keratoderma

Subgroup

Carvajal syndrome

Description

Dilated cardiomyopathy with woolly hair and keratoderma (DCWHK) is a rare autosomal recessive genodermatosis caused by defective desmoplakin, an important desmosomal plaque protein. DCWHK is characterized by the presence of woolly or sparse hair from birth, fragile skin with blisters/erosions, with hyperkeratosis and epidermolytic keratoderma developing in early childhood. Cardiomyopathy may become apparent in the first decade of life, and early death due to heart failure has been reported.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
14 Diseases of the skin
  Genetic and developmental disorders affecting the skin
   EC21  Genetic defects of hair or hair growth
    H00893  Cardiomyopathy, dilated, with woolly hair and keratoderma

Gene

DSP [HSA:1832] [KO:K10381]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

PMID:9738775

Authors

Carvajal-Huerta L

Title

Epidermolytic palmoplantar keratoderma with woolly hair and dilated cardiomyopathy.

Journal

J Am Acad Dermatol 39:418-21 (1998)
DOI:10.1016/S0190-9622(98)70317-2

Reference

PMID:11841538

Authors

Whittock NV, Wan H, Morley SM, Garzon MC, Kristal L, Hyde P, McLean WH, Pulkkinen L, Uitto J, Christiano AM, Eady RA, McGrath JA

Title

Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome.

Journal

J Invest Dermatol 118:232-8 (2002)
DOI:10.1046/j.0022-202x.2001.01664.x

Reference

PMID:20738328

Authors

Al-Owain M, Wakil S, Shareef F, Al-Fatani A, Hamadah E, Haider M, Al-Hindi H, Awaji A, Khalifa O, Baz B, Ramadhan R, Meyer B

Title

Novel homozygous mutation in DSP causing skin fragility-woolly hair syndrome: report of a large family and review of the desmoplakin-related phenotypes.

Journal

Clin Genet 80:50-8 (2011)
DOI:10.1111/j.1399-0004.2010.01518.x

Reference

PMID:11063735 (DCWHK)

Authors

Norgett EE, Hatsell SJ, Carvajal-Huerta L, Cabezas JC, Common J, Purkis PE, Whittock N, Leigh IM, Stevens HP, Kelsell DP

Title

Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma.

Journal

Hum Mol Genet 9:2761-6 (2000)
DOI:10.1093/hmg/9.18.2761

» Japanese version

All links

Disease (1)   
   OMIM (1)   
Gene (2)   
   KEGG ORTHOLOGY (1)   
   KEGG GENES (1)   
Literature (4)   
   PubMed (4)   
All databases (7)   

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