MCID: SCH038
MIFTS: 27

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 51 24 69 12 67
Ssps 24 53 69
Schöpf-Schulz-Passarge Syndrome 53 26
Palmoplantar Hyperkeratosis-Cystic Eyelids-Hypodontia-Hypotrichosis Syndrome 53
Keratosis Palmoplantaris with Cystic Eyelids, Hypodontia and Hypotrichosis 69
 
Palmoplantar Keratoderma-Cystic Eyelids-Hypodontia-Hypotrichosis Syndrome 53
Keratosis Palmoplantaris-Cystic Eyelids-Hypodontia-Hypotrichosis Syndrome 53
Eccrine Tumors with Ectodermal Dysplasia 69
Eccrine Tumors-Ectodermal Dysplasia 53

Characteristics:

Orphanet epidemiological data:

53
ssps:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood; Age of death: normal life expectancy

HPO:

63
schopf-schulz-passarge syndrome:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 224750
Orphanet53 ORPHA50944
ICD10 via Orphanet30 Q82.8
MedGen36 C1857069
MeSH38 D004476

Summaries for Schopf-Schulz-Passarge Syndrome

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UniProtKB/Swiss-Prot:69 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:51 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 25)
idRelated DiseaseScoreTop Affiliating Genes
1syphilis9.9
2yaws9.9
3buruli ulcer9.6
4bacteremia9.6
5hemochromatosis9.6
6crohn's disease9.6
7skin disease9.6
8endometritis9.6
9dry eye syndrome9.6
10subdural empyema9.6
11pernicious anemia9.6
12pleuropneumonia9.6
13synovitis9.6
14dermatitis9.6
15adenocarcinoma9.6
16glioblastoma multiforme9.6
17vestibular disease9.6
18cellulitis9.6
19thrombophlebitis9.6
20conjunctivitis9.6
21neuronitis9.6
22periodontitis9.6
23psoriasis9.6
24glioblastoma9.6
25mycobacterium chelonae9.6

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

Human phenotypes related to Schopf-Schulz-Passarge Syndrome:

 63 53 (show all 20)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 palmoplantar keratoderma63 53 hallmark (90%) Very frequent (99-80%) HP:0000982
2 abnormality of the eye63 typical (50%) HP:0000478
3 alopecia63 53 typical (50%) Frequent (79-30%) HP:0001596
4 premature loss of primary teeth63 53 typical (50%) Frequent (79-30%) HP:0006323
5 reduced number of teeth63 typical (50%) HP:0009804
6 aplasia/hypoplasia of the eyebrow63 53 typical (50%) Frequent (79-30%) HP:0100840
7 neoplasm of the skin63 occasional (7.5%) HP:0008069
8 ovarian neoplasm63 53 occasional (7.5%) Occasional (29-5%) HP:0100615
9 bird-like facies63 53 Occasional (29-5%) HP:0000320
10 hypodontia63 53 Frequent (79-30%) HP:0000668
11 ectodermal dysplasia63 53 Very frequent (99-80%) HP:0000968
12 hypotrichosis63 53 Very frequent (99-80%) HP:0001006
13 small nail63 HP:0001792
14 onycholysis63 HP:0001806
15 ridged nail63 HP:0001807
16 thin nail63 HP:0001816
17 basal cell carcinoma63 53 Occasional (29-5%) HP:0002671
18 squamous cell carcinoma63 53 Occasional (29-5%) HP:0002860
19 narrow nail63 HP:0011313
20 facial telangiectasia53 Very frequent (99-80%)

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 Syndrome26 24 WNT10A

Anatomical Context for Schopf-Schulz-Passarge Syndrome

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

35
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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UniProtKB/Swiss-Prot genetic disease variations for Schopf-Schulz-Passarge Syndrome:

69
id Symbol AA change Variation ID SNP ID
1WNT10Ap.Ala131ThrVAR_077447
2WNT10Ap.Gly266CysVAR_077451

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1WNT10ANM_025216.2(WNT10A): c.637G> A (p.Gly213Ser)SNVPathogenicrs147680216GRCh37Chr 2, 219754966: 219754966
2WNT10ANM_025216.2(WNT10A): c.511C> T (p.Arg171Cys)SNVLikely pathogenicrs116998555GRCh37Chr 2, 219754840: 219754840
3WNT10ANM_025216.2(WNT10A): c.321C> A (p.Cys107Ter)SNVPathogenicrs121908119GRCh37Chr 2, 219747090: 219747090
4WNT10ANM_025216.2(WNT10A): c.682T> A (p.Phe228Ile)SNVPathogenicrs121908120GRCh37Chr 2, 219755011: 219755011

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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet