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

About this section

Aliases & Descriptions for Schopf-Schulz-Passarge Syndrome:

Name: Schopf-Schulz-Passarge Syndrome 52 24 70 12 68
Ssps 24 54 70
Schöpf-Schulz-Passarge Syndrome 54 27
Palmoplantar Hyperkeratosis-Cystic Eyelids-Hypodontia-Hypotrichosis Syndrome 54
Keratosis Palmoplantaris with Cystic Eyelids, Hypodontia and Hypotrichosis 70
 
Palmoplantar Keratoderma-Cystic Eyelids-Hypodontia-Hypotrichosis Syndrome 54
Keratosis Palmoplantaris-Cystic Eyelids-Hypodontia-Hypotrichosis Syndrome 54
Eccrine Tumors with Ectodermal Dysplasia 70
Eccrine Tumors-Ectodermal Dysplasia 54

Characteristics:

Orphanet epidemiological data:

54
ssps:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood; Age of death: normal life expectancy

HPO:

64
schopf-schulz-passarge syndrome:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 224750
Orphanet54 ORPHA50944
ICD10 via Orphanet31 Q82.8
MedGen37 C1857069
MeSH39 D004476

Summaries for Schopf-Schulz-Passarge Syndrome

About this section
UniProtKB/Swiss-Prot:70 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:52 224750

Related Diseases for Schopf-Schulz-Passarge Syndrome

About this section

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 & Phenotypes for Schopf-Schulz-Passarge Syndrome

About this section

Symptoms by clinical synopsis from OMIM:

224750

Clinical features from OMIM:

224750

Human phenotypes related to Schopf-Schulz-Passarge Syndrome:

 64 54 (show all 20)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 palmoplantar keratoderma64 54 hallmark (90%) Very frequent (99-80%) HP:0000982
2 abnormality of the eye64 typical (50%) HP:0000478
3 alopecia64 54 typical (50%) Frequent (79-30%) HP:0001596
4 premature loss of primary teeth64 54 typical (50%) Frequent (79-30%) HP:0006323
5 reduced number of teeth64 typical (50%) HP:0009804
6 aplasia/hypoplasia of the eyebrow64 54 typical (50%) Frequent (79-30%) HP:0100840
7 neoplasm of the skin64 occasional (7.5%) HP:0008069
8 ovarian neoplasm64 54 occasional (7.5%) Occasional (29-5%) HP:0100615
9 bird-like facies64 54 Occasional (29-5%) HP:0000320
10 hypodontia64 54 Frequent (79-30%) HP:0000668
11 ectodermal dysplasia64 54 Very frequent (99-80%) HP:0000968
12 hypotrichosis64 54 Very frequent (99-80%) HP:0001006
13 small nail64 HP:0001792
14 onycholysis64 HP:0001806
15 ridged nail64 HP:0001807
16 thin nail64 HP:0001816
17 basal cell carcinoma64 54 Occasional (29-5%) HP:0002671
18 squamous cell carcinoma64 54 Occasional (29-5%) HP:0002860
19 narrow nail64 HP:0011313
20 facial telangiectasia54 Very frequent (99-80%)

Drugs & Therapeutics for Schopf-Schulz-Passarge Syndrome

About this section

Interventional clinical trials:

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

Genetic Tests for Schopf-Schulz-Passarge Syndrome

About this section

Genetic tests related to Schopf-Schulz-Passarge Syndrome:

id Genetic test Affiliating Genes
1 Schopf-Schulz-Passarge Syndrome27 24 WNT10A

Anatomical Context for Schopf-Schulz-Passarge Syndrome

About this section

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

36
Skin, Eye

Publications for Schopf-Schulz-Passarge Syndrome

About this section

Variations for Schopf-Schulz-Passarge Syndrome

About this section

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

70
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

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

Pathways for genes affiliated with Schopf-Schulz-Passarge Syndrome

About this section

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

About this section

Sources for Schopf-Schulz-Passarge Syndrome

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet