MCID: SCH038
MIFTS: 31

Schopf-Schulz-Passarge Syndrome malady

Genetic diseases, Skin diseases, Fetal diseases, Cancer diseases, Oral diseases, Rare diseases, Eye diseases categories

Aliases & Classifications for Schopf-Schulz-Passarge Syndrome

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Sources:
49OMIM, 11diseasecard, 22GeneTests, 65UMLS, 67UniProtKB/Swiss-Prot, 51Orphanet, 24GTR, 28ICD10 via Orphanet, 34MedGen, 36MeSH
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Aliases & Descriptions for Schopf-Schulz-Passarge Syndrome:

Name: Schopf-Schulz-Passarge Syndrome 49 11 22 65 67
Schöpf-Schulz-Passarge Syndrome 51 24
Ssps 51 67
Keratosis Palmoplantaris with Cystic Eyelids, Hypodontia and Hypotrichosis 67
Palmoplantar Hyperkeratosis - Cystic Eyelids - Hypodontia - Hypotrichosis 51
 
Keratosis Palmoplantaris - Cystic Eyelids - Hypodontia - Hypotrichosis 51
Palmoplantar Keratoderma - Cystic Eyelids - Hypodontia - Hypotrichosis 51
Eccrine Tumors with Ectodermal Dysplasia 67
Eccrine Tumors-Ectodermal Dysplasia 51
Sspe 22


Classifications:



Characteristics (Orphanet epidemiological data):

51
schöpf-schulz-passarge syndrome:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood; Age of death: normal life expectancy


External Ids:

OMIM49 224750
Orphanet51 50944
ICD10 via Orphanet28 Q82.8
MedGen34 C1857069
MeSH36 D004476

Summaries for Schopf-Schulz-Passarge Syndrome

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UniProtKB/Swiss-Prot:67 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 schöpf-schulz-passarge syndrome, is related to subacute sclerosing panencephalitis and measles, and has symptoms including palmoplantar keratoderma, abnormality of the eye 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, eye and ovary.

Description from OMIM:49 224750

Related Diseases for Schopf-Schulz-Passarge Syndrome

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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:

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

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

(show all 22)
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 autosomal recessive inheritance HP:0000007
10 bird-like facies HP:0000320
11 abnormality of the eye HP:0000478
12 hypodontia HP:0000668
13 ectodermal dysplasia HP:0000968
14 palmoplantar keratoderma HP:0000982
15 hypotrichosis HP:0001006
16 small nail HP:0001792
17 onycholysis HP:0001806
18 ridged nail HP:0001807
19 thin nail HP:0001816
20 basal cell carcinoma HP:0002671
21 squamous cell carcinoma HP:0002860
22 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 Syndrome22 24 WNT10A

Anatomical Context for Schopf-Schulz-Passarge Syndrome

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

33
Skin, Eye, 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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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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet