MCID: SCH038
MIFTS: 28

Schopf-Schulz-Passarge Syndrome malady

Categories: Genetic diseases, Skin diseases, Fetal diseases, Oral diseases, Rare diseases, Eye diseases

Aliases & Classifications for Schopf-Schulz-Passarge Syndrome

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Aliases & Descriptions for Schopf-Schulz-Passarge Syndrome:

Name: Schopf-Schulz-Passarge Syndrome 50 23 68 12 66
Ssps 23 52 68
Schöpf-Schulz-Passarge Syndrome 52 25
Palmoplantar Hyperkeratosis-Cystic Eyelids-Hypodontia-Hypotrichosis Syndrome 52
Keratosis Palmoplantaris with Cystic Eyelids, Hypodontia and Hypotrichosis 68
 
Palmoplantar Keratoderma-Cystic Eyelids-Hypodontia-Hypotrichosis Syndrome 52
Keratosis Palmoplantaris-Cystic Eyelids-Hypodontia-Hypotrichosis Syndrome 52
Eccrine Tumors with Ectodermal Dysplasia 68
Eccrine Tumors-Ectodermal Dysplasia 52

Characteristics:

Orphanet epidemiological data:

52
ssps:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood; Age of death: normal life expectancy

HPO:

62
schopf-schulz-passarge syndrome:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 224750
Orphanet52 ORPHA50944
ICD10 via Orphanet29 Q82.8
MedGen35 C1857069
MeSH37 D004476

Summaries for Schopf-Schulz-Passarge Syndrome

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UniProtKB/Swiss-Prot:68 Schopf-Schulz-Passarge syndrome: A rare ectodermal dysplasia, characterized chiefly by cysts of the eyelid margins, palmoplantar keratoderma, hypodontia, hypotrichosis and nail dystrophy. Multiple eyelid apocrine hidrocystomas are the hallmark of this condition, although they usually appear in adulthood. The concomitant presence of eccrine syringofibroadenoma in most patients and of other adnexal skin tumors in some affected subjects indicates that Schopf-Schulz-Passarge syndrome is a genodermatosis with skin appendage neoplasms.

MalaCards based summary: Schopf-Schulz-Passarge Syndrome, also known as ssps, is related to syphilis and yaws, and has symptoms including palmoplantar keratoderma, abnormality of the eye and alopecia. An important gene associated with Schopf-Schulz-Passarge Syndrome is WNT10A (Wnt Family Member 10A). Affiliated tissues include skin and eye.

Description from OMIM:50 224750

Related Diseases for Schopf-Schulz-Passarge Syndrome

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Diseases related to Schopf-Schulz-Passarge Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 24)
idRelated DiseaseScoreTop Affiliating Genes
1syphilis10.1
2yaws10.0
3buruli ulcer9.7
4bacteremia9.7
5hemochromatosis9.7
6crohn's disease9.7
7skin disease9.7
8endometritis9.7
9dry eye syndrome9.7
10stomach cancer9.7
11subdural empyema9.7
12pleuropneumonia9.7
13synovitis9.7
14dermatitis9.7
15adenocarcinoma9.7
16glioblastoma multiforme9.7
17cellulitis9.7
18thrombophlebitis9.7
19conjunctivitis9.7
20neuronitis9.7
21psoriasis9.7
22irritable bowel syndrome9.7
23glioblastoma9.7
24mycobacterium chelonae9.7

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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Symptoms by clinical synopsis from OMIM:

224750

Clinical features from OMIM:

224750

Symptoms:

 52 (show all 12)
  • bird-like facies
  • hypodontia
  • ectodermal dysplasia
  • palmoplantar keratoderma
  • hypotrichosis
  • alopecia
  • basal cell carcinoma
  • squamous cell carcinoma
  • premature loss of primary teeth
  • facial telangiectasia
  • ovarian neoplasm
  • aplasia/hypoplasia of the eyebrow

HPO human phenotypes related to Schopf-Schulz-Passarge Syndrome:

(show all 21)
id Description Frequency HPO Source Accession
1 palmoplantar keratoderma hallmark (90%) HP:0000982
2 abnormality of the eye typical (50%) HP:0000478
3 alopecia typical (50%) HP:0001596
4 premature loss of primary teeth typical (50%) HP:0006323
5 reduced number of teeth typical (50%) HP:0009804
6 aplasia/hypoplasia of the eyebrow typical (50%) HP:0100840
7 neoplasm of the skin occasional (7.5%) HP:0008069
8 ovarian neoplasm occasional (7.5%) HP:0100615
9 bird-like facies HP:0000320
10 abnormality of the eye HP:0000478
11 hypodontia HP:0000668
12 ectodermal dysplasia HP:0000968
13 palmoplantar keratoderma HP:0000982
14 hypotrichosis HP:0001006
15 small nail HP:0001792
16 onycholysis HP:0001806
17 ridged nail HP:0001807
18 thin nail HP:0001816
19 basal cell carcinoma HP:0002671
20 squamous cell carcinoma HP:0002860
21 narrow nail HP:0011313

Drugs & Therapeutics for Schopf-Schulz-Passarge Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Schopf-Schulz-Passarge Syndrome

Genetic Tests for Schopf-Schulz-Passarge Syndrome

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Genetic tests related to Schopf-Schulz-Passarge Syndrome:

id Genetic test Affiliating Genes
1 Schopf-Schulz-Passarge Syndrome25 23 WNT10A

Anatomical Context for Schopf-Schulz-Passarge Syndrome

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

34
Skin, Eye

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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Clinvar genetic disease variations for Schopf-Schulz-Passarge Syndrome:

5
id Gene Variation 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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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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GO Terms for genes affiliated with Schopf-Schulz-Passarge Syndrome

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Sources for Schopf-Schulz-Passarge Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet