Details of Disease | DrugMAP

General Information of Disease (ID: DIS3OZ1S)

Disease Name	SchC6pf-Schulz-Passarge syndrome
Synonyms	eccrine tumours with ectodermal dysplasia; eccrine tumors with ectodermal dysplasia; SCHOPF-Schulz-Passarge syndrome; keratosis palmoplantaris with cystic eyelids, hypodontia, and hypotrichosis; SChPF-Schulz-Passarge syndrome; SSPS; palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome; palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome; keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome; eccrine tumors-ectodermal dysplasia
Definition	A rare autosomal recessive ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy.
Disease Hierarchy	DISCPWH9: Autosomal recessive disease DIS7C7EV: Ectodermal dysplasia WNT10A related DIS6O9JS: Diffuse palmoplantar keratoderma DIS3OZ1S: SchC6pf-Schulz-Passarge syndrome
Disease Identifiers	MONDO ID MONDO_0009145 MESH ID C565607 UMLS CUI C1857069 OMIM ID 224750 MedGen ID 347366 Orphanet ID 50944 SNOMED CT ID 700062000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
WNT10A	OTJ0DNZI	Supportive	Autosomal dominant	[1]
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References

1	WNT10A mutations are a frequent cause of a broad spectrum of ectodermal dysplasias with sex-biased manifestation pattern in heterozygotes. Am J Hum Genet. 2009 Jul;85(1):97-105. doi: 10.1016/j.ajhg.2009.06.001. Epub 2009 Jun 25.