Schopf-Schulz-Passarge Syndrome (SSPS)

Alias:
Ssps
Palmoplantar Hyperkeratosis-Cystic Eyelids-Hypodontia-Hypotrichosis Syndrome
Keratosis Palmoplantaris-Cystic Eyelids-Hypodontia-Hypotrichosis Syndrome
Palmoplantar Keratoderma-Cystic Eyelids-Hypodontia-Hypotrichosis Syndrome
Eccrine Tumors with Ectodermal Dysplasia
Eccrine Tumors-Ectodermal Dysplasia
Keratosis Palmoplantaris with Cystic Eyelids, Hypodontia, and Hypotrichosis
Keratosis Palmoplantaris with Cystic Eyelids, Hypodontia and Hypotrichosis
Schc6pf-Schulz-Passarge Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Schopf-Schulz-Passarge Syndrome, also known as ssps, is related to hypotrichosis and ectodermal dysplasia. An important gene associated with Schopf-Schulz-Passarge Syndrome is WNT10A (Wnt Family Member 10A), and among its related pathways/superpathways are Hair follicle development: organogenesis - part 2 of 3 and EDA signaling in hair follicle development. The drugs Oxacillin and Cloxacillin have been mentioned in the context of this disorder. Affiliated tissues include skin and eye, and related phenotypes are palmoplantar keratoderma and sparse hair
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
AD
Child
<1/1000000
12
104
16

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
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IF
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