KEGG   DISEASE: Schopf-Schulz-Passarge syndromeHelp
Entry
H00781                      Disease                                

Name
Schopf-Schulz-Passarge syndrome;
Keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis
Description
Schopf-Schulz-Passarge syndrome is a rare ectodermal dysplasia resulted from mutations in the WNT10A. The combination of multiple eyelid apocrine hidrocystomas, hypodontia, palmoplantar keratoderma, hypotrichosis and nail dystrophy characterize the disease.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Congenital malformations of skin
   H00781  Schopf-Schulz-Passarge syndrome
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
    H00781  Schopf-Schulz-Passarge syndrome
BRITE hierarchy
Gene
WNT10A [HSA:80326] [KO:K01357]
Comment
WNT10A mutations also underlie odonto-onycho-dermal dysplasia (H00646).
Other DBs
ICD-11: LD27.0Y
ICD-10: Q82.8
MeSH: C565607
OMIM: 224750
Reference
  Authors
Castori M, Ruggieri S, Giannetti L, Annessi G, Zambruno G
  Title
Schopf-Schulz-Passarge syndrome: further delineation of the phenotype and genetic considerations.
  Journal
Acta Derm Venereol 88:607-12 (2008)
DOI:10.2340/00015555-0547
Reference
  Authors
Castori M, Castiglia D, Brancati F, Foglio M, Heath S, Floriddia G, Madonna S, Fischer J, Zambruno G
  Title
Two families confirm Schopf-Schulz-Passarge syndrome as a discrete entity within the WNT10A phenotypic spectrum.
  Journal
Clin Genet 79:92-5 (2011)
DOI:10.1111/j.1399-0004.2010.01513.x
Reference
  Authors
Petrof G, Fong K, Lai-Cheong JE, Cockayne SE, McGrath JA
  Title
Schopf-Schulz-Passarge syndrome resulting from a homozygous nonsense mutation, p.Cys107X, in WNT10A.
  Journal
Australas J Dermatol 52:224-6 (2011)
DOI:10.1111/j.1440-0960.2011.00788.x

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