KEGG   DISEASE: Congenital hypotrichosis with juvenile macular dystrophy
Entry
H00785                      Disease                                

Name
Congenital hypotrichosis with juvenile macular dystrophy
Description
Hypotrichosis with juvenile macular dystrophy is a rare autosomal recessive disorder characterized by sparse scalp hair from birth and resulting hair loss associated with progressive macular degeneration leading to blindness not later than the third decade of life. The causative gene is CDH3 encoding P-cadherin.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Other congenital malformations
   H00785  Congenital hypotrichosis with juvenile macular dystrophy
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD27  Syndromes with skin or mucosal anomalies as a major feature
    H00785  Congenital hypotrichosis with juvenile macular dystrophy
Pathway
hsa04514  Cell adhesion molecules
Gene
CDH3 [HSA:1001] [KO:K06796]
Other DBs
ICD-11: LD27.Y
ICD-10: Q87.8
MeSH: C537698
OMIM: 601553
Reference
PMID:7648037
  Authors
Souied E, Amalric P, Chauvet ML, Chevallier C, Le Hoang P, Munnich A, Kaplan J
  Title
Unusual association of juvenile macular dystrophy with congenital hypotrichosis: occurrence in two siblings suggesting autosomal recessive inheritance.
  Journal
Ophthalmic Genet 16:11-5 (1995)
DOI:10.3109/13816819509057848
Reference
  Authors
Indelman M, Leibu R, Jammal A, Bergman R, Sprecher E
  Title
Molecular basis of hypotrichosis with juvenile macular dystrophy in two siblings.
  Journal
Br J Dermatol 153:635-8 (2005)
DOI:10.1111/j.1365-2133.2005.06734.x
Reference
  Authors
Indelman M, Bergman R, Lurie R, Richard G, Miller B, Petronius D, Ciubutaro D, Leibu R, Sprecher E
  Title
A missense mutation in CDH3, encoding P-cadherin, causes hypotrichosis with juvenile macular dystrophy.
  Journal
J Invest Dermatol 119:1210-3 (2002)
DOI:10.1046/j.1523-1747.2002.19528.x

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