SSPS
MCID: SCH038
MIFTS: 27

Schopf-Schulz-Passarge Syndrome (SSPS) malady

Categories: Genetic diseases, Skin diseases, Fetal diseases, Oral diseases, Rare diseases, Eye diseases

Aliases & Classifications for Schopf-Schulz-Passarge Syndrome

Aliases & Descriptions for Schopf-Schulz-Passarge Syndrome:

Name: Schopf-Schulz-Passarge Syndrome 54 24 66 13 69 56 29
Ssps 24 56 66
Palmoplantar Hyperkeratosis-Cystic Eyelids-Hypodontia-Hypotrichosis Syndrome 56
Keratosis Palmoplantaris with Cystic Eyelids, Hypodontia and Hypotrichosis 66
Keratosis Palmoplantaris-Cystic Eyelids-Hypodontia-Hypotrichosis Syndrome 56
Palmoplantar Keratoderma-Cystic Eyelids-Hypodontia-Hypotrichosis Syndrome 56
Eccrine Tumors with Ectodermal Dysplasia 66
Eccrine Tumors-Ectodermal Dysplasia 56

Characteristics:

Orphanet epidemiological data:

56
schöpf-schulz-passarge syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood; Age of death: normal life expectancy;

HPO:

32
schopf-schulz-passarge syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 224750
Orphanet 56 ORPHA50944
ICD10 via Orphanet 34 Q82.8
MedGen 40 C1857069
MeSH 42 D004476

Summaries for Schopf-Schulz-Passarge Syndrome

UniProtKB/Swiss-Prot : 66 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, hypotrichosis 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: 224750

Related Diseases for Schopf-Schulz-Passarge Syndrome

Diseases related to Schopf-Schulz-Passarge Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 27)
id Related Disease Score Top Affiliating Genes
1 syphilis 9.9
2 yaws 9.9
3 pernicious anemia 9.6
4 mycobacterium chelonae 9.6
5 pleuropneumonia 9.6
6 synovitis 9.6
7 dermatitis 9.6
8 adenocarcinoma 9.6
9 glioblastoma multiforme 9.6
10 buruli ulcer 9.6
11 vestibular disease 9.6
12 bacteremia 9.6
13 cellulitis 9.6
14 hemochromatosis 9.6
15 thrombophlebitis 9.6
16 crohn's disease 9.6
17 skin disease 9.6
18 conjunctivitis 9.6
19 salmonellosis 9.6
20 neuronitis 9.6
21 endometritis 9.6
22 periodontitis 9.6
23 dry eye syndrome 9.6
24 psoriasis 9.6
25 irritable bowel syndrome 9.6
26 subdural empyema 9.6
27 glioblastoma 9.6

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

Symptoms by clinical synopsis from OMIM:

224750

Clinical features from OMIM:

224750

Human phenotypes related to Schopf-Schulz-Passarge Syndrome:

56 32 (show all 18)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 palmoplantar keratoderma 56 32 Very frequent (99-80%) HP:0000982
2 hypotrichosis 56 32 Very frequent (99-80%) HP:0001006
3 alopecia 56 32 Frequent (79-30%) HP:0001596
4 hypodontia 56 32 Frequent (79-30%) HP:0000668
5 ovarian neoplasm 56 32 Occasional (29-5%) HP:0100615
6 aplasia/hypoplasia of the eyebrow 56 32 Frequent (79-30%) HP:0100840
7 bird-like facies 56 32 Occasional (29-5%) HP:0000320
8 squamous cell carcinoma 56 32 Occasional (29-5%) HP:0002860
9 ectodermal dysplasia 56 32 Very frequent (99-80%) HP:0000968
10 premature loss of primary teeth 56 32 Frequent (79-30%) HP:0006323
11 basal cell carcinoma 56 32 Occasional (29-5%) HP:0002671
12 facial telangiectasia 56 32 Very frequent (99-80%) HP:0007380
13 thin nail 32 HP:0001816
14 abnormality of the eye 32 HP:0000478
15 small nail 32 HP:0001792
16 ridged nail 32 HP:0001807
17 onycholysis 32 HP:0001806
18 narrow nail 32 HP:0011313

Drugs & Therapeutics for Schopf-Schulz-Passarge Syndrome

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

Genetic Tests for Schopf-Schulz-Passarge Syndrome

Genetic tests related to Schopf-Schulz-Passarge Syndrome:

id Genetic test Affiliating Genes
1 Schopf-Schulz-Passarge Syndrome 29 24 WNT10A

Anatomical Context for Schopf-Schulz-Passarge Syndrome

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

39
Skin, Eye

Publications for Schopf-Schulz-Passarge Syndrome

Variations for Schopf-Schulz-Passarge Syndrome

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

66
id Symbol AA change Variation ID SNP ID
1 WNT10A p.Ala131Thr VAR_077447 rs372993798
2 WNT10A p.Gly266Cys VAR_077451

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1 WNT10A NM_025216.2(WNT10A): c.321C> A (p.Cys107Ter) single nucleotide variant Pathogenic rs121908119 GRCh37 Chromosome 2, 219747090: 219747090
2 WNT10A NM_025216.2(WNT10A): c.616C> T (p.Gln206Ter) single nucleotide variant Likely pathogenic rs1060499588 GRCh37 Chromosome 2, 219754945: 219754945

Expression for Schopf-Schulz-Passarge Syndrome

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

Pathways for Schopf-Schulz-Passarge Syndrome

GO Terms for Schopf-Schulz-Passarge Syndrome

Sources for Schopf-Schulz-Passarge Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....