SSPS
MCID: SCH038
MIFTS: 20

Schopf-Schulz-Passarge Syndrome (SSPS) malady

Skin, Fetal, Cancer, Eye categories

Summaries for Schopf-Schulz-Passarge Syndrome

Sources:
47OMIM, 33MalaCards
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MalaCards: Schopf-Schulz-Passarge Syndrome, also known as palmoplantar hyperkeratosis - cystic eyelids - hypodontia - hypotrichosis, is related to syphilis and yaws, and has symptoms including autosomal recessive inheritance, nails anomalies and palmoplantar hyperkeratosis/keratoderma. An important gene associated with Schopf-Schulz-Passarge Syndrome is WNT10A (wingless-type MMTV integration site family, member 10A).

Description from OMIM:47 224750

Aliases & Classifications for Schopf-Schulz-Passarge Syndrome

Sources:
20GeneTests, 22GTR, 47OMIM, 61UMLS, 49Orphanet, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal, Cancer
Anatomical: Skin, Eye


Characteristics (Orphanet epidemiological data):

49
palmoplantar hyperkeratosis - cystic eyelids - hypodontia - hypotrichosis:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Childhood; Age of death: Normal


Aliases & Descriptions:

schopf-schulz-passarge syndrome 20 22 47 61
palmoplantar hyperkeratosis - cystic eyelids - hypodontia - hypotrichosis 49
keratosis palmoplantaris - cystic eyelids - hypodontia - hypotrichosis 49
palmoplantar keratoderma - cystic eyelids - hypodontia - hypotrichosis 49
eccrine tumors-ectodermal dysplasia 49
schöpf-schulz-passarge syndrome 49
ssps 49


External Ids:

OMIM47 224750
ICD10 via Orphanet26 Q82.8

Related Diseases for Schopf-Schulz-Passarge Syndrome

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Schopf-Schulz-Passarge Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 15)
idRelated DiseaseScoreTop Affiliating Genes
1syphilis10.2
2yaws10.1
3pleuropneumonia10.0
4crohn's disease10.0
5spondyloepiphyseal dysplasia congenita10.0
6subdural empyema10.0
7cellulitis10.0
8hemochromatosis10.0
9adenocarcinoma10.0
10stomach cancer10.0
11synovitis10.0
12thrombophlebitis10.0
13mycobacterium abscessus10.0
14mycobacterium chelonae10.0
15bacteremia10.0

Graphical network of diseases related to Schopf-Schulz-Passarge Syndrome:



Diseases related to schopf-schulz-passarge syndrome

Clinical Features for Schopf-Schulz-Passarge Syndrome

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

224750

Clinical synopsis from OMIM:

224750

Symptoms:

49 (show all 11)
  • autosomal recessive inheritance
  • nails anomalies
  • palmoplantar hyperkeratosis/keratoderma
  • anomalies of eyelids, eyelashes and lacrimal system
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • anodontia/oligodontia/hypodontia
  • ovary/fallopian tube neoplasm/tumor/carcinoma/cancer (excl. teratoma/germinoma)
  • absent/decreased/thin eyebrows
  • skin/cutaneous neoplasm/tumor/carcinoma/cancer (excluding melanoma)
  • alopecia
  • premature lost of decidious teeth

Drugs & Therapeutics for Schopf-Schulz-Passarge Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Schopf-Schulz-Passarge Syndrome

Drug clinical trials:

Search ClinicalTrials for Schopf-Schulz-Passarge Syndrome

Search NIH Clinical Center for Schopf-Schulz-Passarge Syndrome

Search CenterWatch for Schopf-Schulz-Passarge Syndrome

Genetic Tests for Schopf-Schulz-Passarge Syndrome

Sources:
20GeneTests, 22GTR
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Genetic tests related to Schopf-Schulz-Passarge Syndrome:

id Genetic test Affiliating Genes
1 Schopf-schulz-passarge Syndrome20 22 WNT10A

Anatomical Context for Schopf-Schulz-Passarge Syndrome

Animal Models for Schopf-Schulz-Passarge Syndrome or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Schopf-Schulz-Passarge Syndrome

Genetic Variations for Schopf-Schulz-Passarge Syndrome

Expression for genes affiliated with Schopf-Schulz-Passarge Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Schopf-Schulz-Passarge Syndrome

Search GEO for disease gene expression data for Schopf-Schulz-Passarge Syndrome.

Pathways for genes affiliated with Schopf-Schulz-Passarge Syndrome

Compounds for genes affiliated with Schopf-Schulz-Passarge Syndrome

GO Terms for genes affiliated with Schopf-Schulz-Passarge Syndrome

Products for genes affiliated with Schopf-Schulz-Passarge Syndrome

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Schopf-Schulz-Passarge Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet