MCID: SCH038
MIFTS: 27

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

About this section
Sources:
45OMIM, 10diseasecard, 20GeneTests, 47Orphanet, 22GTR, 60UMLS, 26ICD10 via Orphanet
See all sources

Schopf-Schulz-Passarge Syndrome, Aliases & Descriptions:

Name: Schopf-Schulz-Passarge Syndrome 45 10 20 60
Schöpf-Schulz-Passarge Syndrome 47 22
Palmoplantar Hyperkeratosis - Cystic Eyelids - Hypodontia - Hypotrichosis 47
Keratosis Palmoplantaris - Cystic Eyelids - Hypodontia - Hypotrichosis 47
 
Palmoplantar Keratoderma - Cystic Eyelids - Hypodontia - Hypotrichosis 47
Eccrine Tumors-Ectodermal Dysplasia 47
Ssps 47


Classifications:



Characteristics (Orphanet epidemiological data):

47
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:

OMIM45 224750
Orphanet47 50944
ICD10 via Orphanet26 Q82.8

Summaries for Schopf-Schulz-Passarge Syndrome

About this section


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:45 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 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

About this section

Symptoms by clinical synopsis from OMIM:

224750

Clinical features from OMIM:

224750

Symptoms:

 47 (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

About this section

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

About this section

Genetic tests related to Schopf-Schulz-Passarge Syndrome:

id Genetic test Affiliating Genes
1 Schopf-Schulz-Passarge Syndrome20 22 WNT10A

Anatomical Context for Schopf-Schulz-Passarge Syndrome

About this section

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

31
Skin, Eye, Ovary

Animal Models for Schopf-Schulz-Passarge Syndrome or affiliated genes

About this section

Publications for Schopf-Schulz-Passarge Syndrome

About this section

Variations for Schopf-Schulz-Passarge Syndrome

About this section

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

6
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

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

Compounds for genes affiliated with Schopf-Schulz-Passarge Syndrome

About this section

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

About this section

Products for genes affiliated with Schopf-Schulz-Passarge Syndrome

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Schopf-Schulz-Passarge Syndrome

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet