MCID: SCH038
MIFTS: 29

Schopf-Schulz-Passarge Syndrome malady

Categories: Genetic diseases, Skin diseases, Fetal diseases, Cancer 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 49 11 22 67 65
Ssps 22 51 67
Schöpf-Schulz-Passarge Syndrome 51 24
Palmoplantar Hyperkeratosis-Cystic Eyelids-Hypodontia-Hypotrichosis Syndrome 51
Keratosis Palmoplantaris with Cystic Eyelids, Hypodontia and Hypotrichosis 67
 
Keratosis Palmoplantaris-Cystic Eyelids-Hypodontia-Hypotrichosis Syndrome 51
Palmoplantar Keratoderma-Cystic Eyelids-Hypodontia-Hypotrichosis Syndrome 51
Eccrine Tumors with Ectodermal Dysplasia 67
Subacute Sclerosing Panencephalitis 65
Eccrine Tumors-Ectodermal Dysplasia 51

Characteristics:

Orphanet epidemiological data:

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

HPO:

61
schopf-schulz-passarge syndrome:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 224750
Orphanet51 50944
ICD10 via Orphanet28 Q82.8
MedGen34 C1857069
MeSH36 D004476
UMLS65 C1857069

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 ssps, is related to yaws and syphilis, and has symptoms including palmoplantar keratoderma, aplasia/hypoplasia of the eyebrow and reduced number of teeth. An important gene associated with Schopf-Schulz-Passarge Syndrome is WNT10A (Wnt Family Member 10A). Affiliated tissues include skin, eye and liver.

Description from OMIM:49 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 24)
idRelated DiseaseScoreTop Affiliating Genes
1yaws10.0
2syphilis10.0
3buruli ulcer9.7
4bacteremia9.7
5hemochromatosis9.7
6crohn's disease9.7
7skin disease9.7
8endometritis9.7
9dry eye syndrome9.7
10stomach cancer9.7
11subdural empyema9.7
12pleuropneumonia9.7
13synovitis9.7
14dermatitis9.7
15adenocarcinoma9.7
16glioblastoma multiforme9.7
17cellulitis9.7
18thrombophlebitis9.7
19conjunctivitis9.7
20neuronitis9.7
21psoriasis9.7
22irritable bowel syndrome9.7
23glioblastoma9.7
24mycobacterium chelonae9.7

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 21)
id Description Frequency HPO Source Accession
1 palmoplantar keratoderma hallmark (90%) HP:0000982
2 aplasia/hypoplasia of the eyebrow typical (50%) HP:0100840
3 reduced number of teeth typical (50%) HP:0009804
4 premature loss of primary teeth typical (50%) HP:0006323
5 alopecia typical (50%) HP:0001596
6 abnormality of the eye typical (50%) HP:0000478
7 ovarian neoplasm occasional (7.5%) HP:0100615
8 neoplasm of the skin occasional (7.5%) HP:0008069
9 narrow nail HP:0011313
10 squamous cell carcinoma HP:0002860
11 basal cell carcinoma HP:0002671
12 thin nail HP:0001816
13 ridged nail HP:0001807
14 onycholysis HP:0001806
15 small nail HP:0001792
16 hypotrichosis HP:0001006
17 palmoplantar keratoderma HP:0000982
18 ectodermal dysplasia HP:0000968
19 hypodontia HP:0000668
20 abnormality of the eye HP:0000478
21 bird-like facies HP:0000320

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 WNT10A

Anatomical Context for Schopf-Schulz-Passarge Syndrome

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

33
Skin, Eye, Liver, Ovary, Thyroid, Kidney, Bone

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