MCID: SCH038
MIFTS: 35

Schopf-Schulz-Passarge Syndrome

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

Aliases & Classifications for Schopf-Schulz-Passarge Syndrome

MalaCards integrated aliases for Schopf-Schulz-Passarge Syndrome:

Name: Schopf-Schulz-Passarge Syndrome 53 71 36 28 13 69 55
Ssps 53 55 71
Eccrine Tumors with Ectodermal Dysplasia 53 71
Palmoplantar Hyperkeratosis-Cystic Eyelids-Hypodontia-Hypotrichosis Syndrome 55
Keratosis Palmoplantaris with Cystic Eyelids, Hypodontia, and Hypotrichosis 53
Keratosis Palmoplantaris with Cystic Eyelids, Hypodontia and Hypotrichosis 71
Keratosis Palmoplantaris-Cystic Eyelids-Hypodontia-Hypotrichosis Syndrome 55
Palmoplantar Keratoderma-Cystic Eyelids-Hypodontia-Hypotrichosis Syndrome 55
Eccrine Tumors-Ectodermal Dysplasia 55

Characteristics:

Orphanet epidemiological data:

55
schöpf-schulz-passarge syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood; Age of death: normal life expectancy;

OMIM:

53
Inheritance:
autosomal recessive


HPO:

31
schopf-schulz-passarge syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Schopf-Schulz-Passarge Syndrome

UniProtKB/Swiss-Prot : 71 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, alopecia and hypotrichosis. 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 34)
# Related Disease Score Top Affiliating Genes
1 syphilis 10.0
2 yaws 10.0
3 celiac disease 1 9.8
4 glioma susceptibility 1 9.7
5 spondyloepiphyseal dysplasia with congenital joint dislocations 9.7
6 pernicious anemia 9.7
7 platelet groups--ko system 9.7
8 spondyloepiphyseal dysplasia congenita 9.7
9 short stature-obesity syndrome 9.7
10 buruli ulcer 9.7
11 gastric cancer 9.7
12 bacteremia 2 9.7
13 crohn's disease 9.7
14 skin disease 9.7
15 salmonellosis 9.7
16 endometritis 9.7
17 dry eye syndrome 9.7
18 subdural empyema 9.7
19 pleuropneumonia 9.7
20 synovitis 9.7
21 dermatitis 9.7
22 adenocarcinoma 9.7
23 glioblastoma multiforme 9.7
24 vestibular disease 9.7
25 cellulitis 9.7
26 thrombophlebitis 9.7
27 pustulosis of palm and sole 9.7
28 conjunctivitis 9.7
29 neuronitis 9.7
30 periodontitis 9.7
31 psoriasis 9.7
32 irritable bowel syndrome 9.7
33 glioblastoma 9.7
34 mycobacterium chelonae 9.7

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 via clinical synopsis from OMIM:

53
Skin Nails Hair Skin:
palmoplantar keratoderma
eyelid margin cysts (apocrine hidrocystoma)
eccrine poroma

Head And Neck Face:
bird-like facies

Skin Nails Hair Nails:
onycholysis
hypoplastic nails
longitudinal ridging
thin, narrow nails

Skin Nails Hair Hair:
hypotrichosis (scalp)

Head And Neck Teeth:
hypodontia

Neoplasia:
squamous cell carcinoma
basal cell carcinoma

Head And Neck Eyes:
eyelid margin cysts (hidrocystoma)


Clinical features from OMIM:

224750

Human phenotypes related to Schopf-Schulz-Passarge Syndrome:

55 31 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 palmoplantar keratoderma 55 31 hallmark (90%) Very frequent (99-80%) HP:0000982
2 alopecia 55 31 frequent (33%) Frequent (79-30%) HP:0001596
3 hypotrichosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0001006
4 hypodontia 55 31 frequent (33%) Frequent (79-30%) HP:0000668
5 ovarian neoplasm 55 31 occasional (7.5%) Occasional (29-5%) HP:0100615
6 aplasia/hypoplasia of the eyebrow 55 31 frequent (33%) Frequent (79-30%) HP:0100840
7 bird-like facies 55 31 occasional (7.5%) Occasional (29-5%) HP:0000320
8 squamous cell carcinoma 55 31 occasional (7.5%) Occasional (29-5%) HP:0002860
9 ectodermal dysplasia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000968
10 premature loss of primary teeth 55 31 frequent (33%) Frequent (79-30%) HP:0006323
11 basal cell carcinoma 55 31 occasional (7.5%) Occasional (29-5%) HP:0002671
12 facial telangiectasia 55 31 hallmark (90%) Very frequent (99-80%) HP:0007380
13 thin nail 31 HP:0001816
14 abnormality of the eye 31 HP:0000478
15 small nail 31 HP:0001792
16 ridged nail 31 HP:0001807
17 onycholysis 31 HP:0001806
18 narrow nail 31 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:

# Genetic test Affiliating Genes
1 Schopf-Schulz-Passarge Syndrome 28 WNT10A

Anatomical Context for Schopf-Schulz-Passarge Syndrome

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

38
Skin, Eye

Publications for Schopf-Schulz-Passarge Syndrome

Articles related to Schopf-Schulz-Passarge Syndrome:

(show top 50) (show all 80)
# Title Authors Year
1
Intra-abdominal abscesses by Lactococcus lactis ssp cremoris in an immunocompetent adult with severe periodontitis and pernicious anemia. ( 28050349 )
2017
2
Development of TaqMan probes targeting the four major celiac disease epitopes found in I+-gliadin sequences of spelt (Triticum aestivum ssp. spelta) and bread wheat (Triticum aestivum ssp. aestivum). ( 28912827 )
2017
3
Effects of synbiotic fermented milk containing Lactobacillus acidophilus La-5 and Bifidobacterium animalis ssp. lactis BB-12 on the fecal microbiota of adults with irritable bowel syndrome: A randomized double-blind, placebo-controlled trial. ( 27157575 )
2016
4
Characterizing the Syphilis-Causing Treponema pallidum ssp. pallidum Proteome Using Complementary Mass Spectrometry. ( 27606673 )
2016
5
Failure of PCR to Detect Treponema pallidum ssp. pertenue DNA in Blood in Latent Yaws. ( 26125585 )
2015
6
Macrolide Resistance in the Syphilis Spirochete, Treponema pallidum ssp. pallidum: Can We Also Expect Macrolide-Resistant Yaws Strains? ( 26217043 )
2015
7
Congenital vestibular disease in captive Sumatran tigers (Panthera tigris ssp. sumatrae) in Australasia. ( 26403953 )
2015
8
Perianal streptococcal dermatitis due to Streptococcus dysgalactiae ssp. Equisimilis in a man who has sex with men. ( 23845120 )
2013
9
Resequencing of Treponema pallidum ssp. pallidum strains Nichols and SS14: correction of sequencing errors resulted in increased separation of syphilis treponeme subclusters. ( 24058545 )
2013
10
Bacteremia due to Staphylococcus cohnii ssp. urealyticus caused by infected pressure ulcer: case report and review of the literature. ( 23538597 )
2013
11
Whole genome sequences of three Treponema pallidum ssp. pertenue strains: yaws and syphilis treponemes differ in less than 0.2% of the genome sequence. ( 22292095 )
2012
12
Interaction between M-like protein and macrophage thioredoxin facilitates antiphagocytosis for Streptococcus equi ssp. zooepidemicus. ( 22384152 )
2012
13
Whole genome sequence of Treponema pallidum ssp. pallidum, strain Mexico A, suggests recombination between yaws and syphilis strains. ( 23029591 )
2012
14
Pharmacological and histological effects of Centaurea bruguierana ssp. belangerana on indomethacin-induced peptic ulcer in rats. ( 21993908 )
2012
15
Case of Buruli ulcer due to Mycobacterium ulcerans ssp. shinshuense with distal cutaneous involvement and synovitis. ( 22553785 )
2012
16
Frequencies of IL10 SNP genotypes by multiplex PCR-SSP and their association with viral load and CD4 counts in HIV-1-infected Thais. ( 21560494 )
2011
17
Identification of seroreactive proteins in the culture filtrate antigen of Mycobacterium avium ssp. paratuberculosis human isolates to sera from Crohn's disease patients. ( 19878316 )
2010
18
Polymorphisms in the gene encoding bovine interleukin-10 receptor alpha are associated with Mycobacterium avium ssp. paratuberculosis infection status. ( 20398313 )
2010
19
The allele frequencies of HPA 1-16 determined by PCR-SSP in Chinese Cantonese donors. ( 20667040 )
2010
20
Compound KIR-HLA genotype analyses in the Iranian population by a novel PCR-SSP assay. ( 20193031 )
2010
21
Lactococcus lactis ssp. lactis inhibits the proliferation of SNU-1 human stomach cancer cells through induction of G0/G1 cell cycle arrest and apoptosis via p53 and p21 expression. ( 19723065 )
2009
22
Arginine deiminase originating from Lactococcus lactis ssp. lactis American Type Culture Collection (ATCC) 7962 induces G1-phase cell-cycle arrest and apoptosis in SNU-1 stomach adenocarcinoma cells. ( 19624867 )
2009
23
A fast SSP-PCR method for genotyping the ATP-binding cassette subfamily B member 1 gene C3435T and G2677T polymorphisms in Chinese transplant recipients. ( 19688973 )
2009
24
Typing of the nt343C>T (R95X) allele of the C9 gene by PCR-SSP and the allele frequency of R95X in five ethnic populations. ( 19261509 )
2009
25
HLA-B*27 subtypes in Northern and Northeastern Thais, Karens, and Bamars determined by a high-resolution PCR-SSP technique. ( 19493237 )
2009
26
Internalization-dependent recognition of Mycobacterium avium ssp. paratuberculosis by intestinal epithelial cells. ( 19681906 )
2009
27
Unusual amplification pattern by SSP HLA-B typing led to discovery of a novel HLA-C allele. ( 19046303 )
2008
28
Probiotic Leuconostoc mesenteroides ssp. cremoris and Streptococcus thermophilus induce IL-12 and IFN-gamma production. ( 18300344 )
2008
29
Rapid molecular prenatal diagnosis of spondyloepiphyseal dysplasia congenita by PCR-SSP assay. ( 19072565 )
2008
30
DNA typing by microbead arrays and PCR-SSP: apparent false-negative or -positive hybridization or amplification signals disclose new HLA-B and -DRB1 alleles. ( 18179646 )
2008
31
The influence of Lactobacillus rhamnosus LC705 together with Propionibacterium freudenreichii ssp. shermanii JS on potentially carcinogenic bacterial activity in human colon. ( 18945506 )
2008
32
Detection of MNS hybrid molecules in the Thai population using PCR-SSP technique. ( 17561857 )
2007
33
Facilitation of KIR genotyping by a PCR-SSP method that amplifies short DNA fragments. ( 17854430 )
2007
34
Surveillance of healthy cats and cats with inflammatory skin disease for colonization of the skin by methicillin-resistant coagulase-positive staphylococci and Staphylococcus schleiferi ssp. schleiferi. ( 17610491 )
2007
35
Delta1-pyrroline-5-carboxylic acid formed by proline dehydrogenase from the Bacillus subtilis ssp. natto expressed in Escherichia coli as a precursor for 2-acetyl-1-pyrroline. ( 17536821 )
2007
36
Molecular cloning of porcine RP105/MD-1 involved in recognition of extracellular phosphopolysaccharides from Lactococcus lactis ssp. cremoris. ( 17254634 )
2007
37
Natural killer cell activities of synbiotic Lactobacillus casei ssp. casei in conjunction with dextran. ( 16367940 )
2006
38
Molecular typing and anti-microbial susceptibility of clinical isolates of Streptococcus equi ssp. zooepidemicus from equine bacterial endometritis. ( 17062124 )
2006
39
A clinical study of acupuncture and SSP (silver spike point) electro-therapy for dry eye syndrome. ( 16552832 )
2006
40
Effect of pH on the structure and stability of Bacillus circulans ssp. alkalophilus phosphoserine aminotransferase: thermodynamic and crystallographic studies. ( 16532449 )
2006
41
Extended storage of platelets in SSP platelet additive solution. ( 16756600 )
2006
42
A novel HLA-DRB1*11 allele, DRB1*1155, was found in a patient through routine DRB1 typing using sequence-specific primers (SSP) and confirmed by allele-specific sequence-based typing. ( 17176450 )
2006
43
In vitro 12(S)-HETE inhibitory activities of naphthoquinones isolated from the root bark of Euclea racemosa ssp. schimperi. ( 16019177 )
2005
44
Study of alanine-73 and aspartate-9 of HLA-C locus in Saudi psoriasis patients, using sequence-specific primers (PCR-SSP). ( 15943912 )
2005
45
A new PCR-SSP typing method for six single-nucleotide polymorphisms impairing the blood-clotting cascade as well as T-cell stimulation. ( 16305681 )
2005
46
Use of Ssp dnaB derived mini-intein as a fusion partner for production of recombinant human brain natriuretic peptide in Escherichia coli. ( 15979896 )
2005
47
A novel HLA-B*420502 allele identified by PCR-SSO/SSP routine typing and confirmed by Sequencing-based typing. ( 15730521 )
2005
48
Identification of HLA a*0201 glioblastoma multiforme cell lines for immunotherapy by PCR-SSP and DNA sequencing. ( 15015764 )
2004
49
Real-time PCR genotyping of human platelet alloantigens HPA-1, HPA-2, HPA-3 and HPA-5 is superior to the standard PCR-SSP method. ( 15569237 )
2004
50
Purification and characterization of intracellular proteinase from Lactobacillus casei ssp. casei LLG. ( 15545371 )
2004

Variations for Schopf-Schulz-Passarge Syndrome

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

71
# 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
# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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