MCID: SCH038
MIFTS: 32

Schopf-Schulz-Passarge Syndrome malady

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

Summaries for Schopf-Schulz-Passarge Syndrome

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MalaCards based summary: Schopf-Schulz-Passarge Syndrome, also known as schöpf-schulz-passarge syndrome, is related to syphilis and yaws, and has symptoms including palmoplantar keratoderma, abnormality of the nail and abnormality of the eye. 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:47 224750

Aliases & Classifications for Schopf-Schulz-Passarge Syndrome

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Sources:
47OMIM, 11diseasecard, 22GeneTests, 49Orphanet, 24GTR, 62UMLS, 28ICD10 via Orphanet
See all sources

Schopf-Schulz-Passarge Syndrome, Aliases & Descriptions:

Name: Schopf-Schulz-Passarge Syndrome 47 11 22 62
Schöpf-Schulz-Passarge Syndrome 49 24
Palmoplantar Hyperkeratosis - Cystic Eyelids - Hypodontia - Hypotrichosis 49
Keratosis Palmoplantaris - Cystic Eyelids - Hypodontia - Hypotrichosis 49
 
Palmoplantar Keratoderma - Cystic Eyelids - Hypodontia - Hypotrichosis 49
Eccrine Tumors-Ectodermal Dysplasia 49
Ssps 49


Classifications:



Characteristics (Orphanet epidemiological data):

49
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:

OMIM47 224750
Orphanet49 50944
ICD10 via Orphanet28 Q82.8

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/GeneDecks gene sharing:

(show all 23)
idRelated DiseaseScoreTop Affiliating Genes
1syphilis10.2
2yaws10.1
3buruli ulcer10.0
4bacteremia10.0
5hemochromatosis10.0
6crohn's disease10.0
7skin disease10.0
8neuronitis10.0
9subdural empyema10.0
10pleuropneumonia10.0
11adenocarcinoma10.0
12cellulitis10.0
13conjunctivitis10.0
14dermatitis10.0
15dry eye syndrome10.0
16endometritis10.0
17glioblastoma multiforme10.0
18psoriasis10.0
19stomach cancer10.0
20synovitis10.0
21thrombophlebitis10.0
22glioblastoma10.0
23mycobacterium chelonae10.0

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

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Symptoms by clinical synopsis from OMIM:

224750

Clinical features from OMIM:

224750

Symptoms:

 49 (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 nail hallmark (90%) HP:0001597
3 abnormality of the eye typical (50%) HP:0000478
4 alopecia typical (50%) HP:0001596
5 premature loss of primary teeth typical (50%) HP:0006323
6 reduced number of teeth typical (50%) HP:0009804
7 aplasia/hypoplasia of the eyebrow typical (50%) HP:0100840
8 neoplasm of the skin occasional (7.5%) HP:0008069
9 ovarian neoplasm occasional (7.5%) HP:0100615
10 autosomal recessive inheritance HP:0000007
11 bird-like facies HP:0000320
12 abnormality of the eye HP:0000478
13 hypodontia HP:0000668
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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Drug clinical trials:

Search ClinicalTrials for Schopf-Schulz-Passarge Syndrome

Search 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:

7
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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Compounds 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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Products for genes affiliated with Schopf-Schulz-Passarge Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Schopf-Schulz-Passarge Syndrome

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet