SSPS
MCID: SCH038
MIFTS: 29

Schopf-Schulz-Passarge Syndrome (SSPS) malady

Genetic diseases, Skin diseases, Fetal diseases, Cancer diseases, Oral diseases, Rare diseases, Eye diseases categories
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Summaries for Schopf-Schulz-Passarge Syndrome

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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 skin/cutaneous neoplasm/tumor/carcinoma/cancer (excluding melanoma), ovary/fallopian tube neoplasm/tumor/carcinoma/cancer (excl. teratoma/germinoma) and alopecia. An important gene associated with Schopf-Schulz-Passarge Syndrome is WNT10A (wingless-type MMTV integration site family, member 10A). Affiliated tissues include skin and ovary.

Description from OMIM:47 224750

Aliases & Classifications for Schopf-Schulz-Passarge Syndrome

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Sources:
20GeneTests, 22GTR, 47OMIM, 49Orphanet, 62UMLS, 26ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

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


Aliases & Descriptions:

schopf-schulz-passarge syndrome 20 22 47 62
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

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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 22)
idRelated DiseaseScoreTop Affiliating Genes
1syphilis10.2
2yaws10.1
3crohn's disease10.0
4neuronitis10.0
5hemochromatosis10.0
6spondyloepiphyseal dysplasia congenita10.0
7subdural empyema10.0
8pleuropneumonia10.0
9adenocarcinoma10.0
10cellulitis10.0
11conjunctivitis10.0
12dermatitis10.0
13dry eye syndrome10.0
14endometritis10.0
15glioblastoma multiforme10.0
16psoriasis10.0
17skin disease10.0
18stomach cancer10.0
19synovitis10.0
20thrombophlebitis10.0
21mycobacterium chelonae10.0
22bacteremia10.0

Graphical network of the top 20 diseases related to Schopf-Schulz-Passarge Syndrome:



Diseases related to schopf-schulz-passarge syndrome

Symptoms for Schopf-Schulz-Passarge Syndrome

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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

224750

Clinical features from OMIM:

224750

Symptoms:

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

Drugs & Therapeutics for Schopf-Schulz-Passarge Syndrome

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Schopf-Schulz-Passarge Syndrome

Search NIH Clinical Center for Schopf-Schulz-Passarge Syndrome

Genetic Tests for Schopf-Schulz-Passarge Syndrome

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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

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33MalaCards
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MalaCards organs/tissues related to Schopf-Schulz-Passarge Syndrome:

33
Skin, Ovary

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

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Publications for Schopf-Schulz-Passarge Syndrome

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Variations for Schopf-Schulz-Passarge Syndrome

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Schopf-Schulz-Passarge Syndrome:

1
id Gene Name Type Significance SNP ID Assembly Location
1WNT10ANM_025216.2(WNT10A): c.321C> A (p.Cys107Ter)single nucleotide variantPathogenicrs121908119GRCh37Chr 2, 219747090: 219747090

Expression for genes affiliated with Schopf-Schulz-Passarge Syndrome

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Sources:
2BioGPS, 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

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Compounds for genes affiliated with Schopf-Schulz-Passarge Syndrome

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

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Products for genes affiliated with Schopf-Schulz-Passarge Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Schopf-Schulz-Passarge Syndrome

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet