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

Summaries for Schopf-Schulz-Passarge Syndrome

About this section
Sources:
48OMIM, 34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
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:48 224750

Aliases & Classifications for Schopf-Schulz-Passarge Syndrome

About this section
Sources:
21GeneTests, 23GTR, 48OMIM, 50Orphanet, 63UMLS, 27ICD10 via Orphanet
See all sources

Classifications:



Characteristics (Orphanet epidemiological data):

50
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 21 23 48 63
palmoplantar hyperkeratosis - cystic eyelids - hypodontia - hypotrichosis 50
keratosis palmoplantaris - cystic eyelids - hypodontia - hypotrichosis 50
palmoplantar keratoderma - cystic eyelids - hypodontia - hypotrichosis 50
eccrine tumors-ectodermal dysplasia 50
schöpf-schulz-passarge syndrome 50
ssps 50


External Ids:

OMIM48 224750
ICD10 via Orphanet27 Q82.8

Related Diseases for Schopf-Schulz-Passarge Syndrome

About this section
Sources:
18GeneCards, 19GeneDecks
See all sources

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

About this section
Sources:
48OMIM, 50Orphanet
See all sources

Symptoms by clinical synopsis from OMIM:

224750

Clinical features from OMIM:

224750

Symptoms:

50 (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

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
See all sources

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

About this section
Sources:
21GeneTests, 23GTR
See all sources

Genetic tests related to Schopf-Schulz-Passarge Syndrome:

id Genetic test Affiliating Genes
1 Schopf-Schulz-Passarge Syndrome21 23 WNT10A

Anatomical Context for Schopf-Schulz-Passarge Syndrome

About this section
Sources:
34MalaCards
See all sources

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

34
Skin, Ovary

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

About this section

Publications for Schopf-Schulz-Passarge Syndrome

About this section

Variations for Schopf-Schulz-Passarge Syndrome

About this section
Sources:
1 National Center for Biotechnology Information (Clinvar)
See all sources

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

About this section
Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
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

About this section

Compounds for genes affiliated with Schopf-Schulz-Passarge Syndrome

About this section

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

About this section

Products for genes affiliated with Schopf-Schulz-Passarge Syndrome

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Schopf-Schulz-Passarge Syndrome

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet