SSPS
MCID: SCH038
MIFTS: 35

Schopf-Schulz-Passarge Syndrome (SSPS)

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

Aliases & Classifications for Schopf-Schulz-Passarge Syndrome

MalaCards integrated aliases for Schopf-Schulz-Passarge Syndrome:

Name: Schopf-Schulz-Passarge Syndrome 57 75 37 29 13 6 40 73
Ssps 57 59 75
Eccrine Tumors with Ectodermal Dysplasia 57 75
Palmoplantar Hyperkeratosis-Cystic Eyelids-Hypodontia-Hypotrichosis Syndrome 59
Keratosis Palmoplantaris with Cystic Eyelids, Hypodontia, and Hypotrichosis 57
Keratosis Palmoplantaris with Cystic Eyelids, Hypodontia and Hypotrichosis 75
Keratosis Palmoplantaris-Cystic Eyelids-Hypodontia-Hypotrichosis Syndrome 59
Palmoplantar Keratoderma-Cystic Eyelids-Hypodontia-Hypotrichosis Syndrome 59
Eccrine Tumors-Ectodermal Dysplasia 59
Schöpf-Schulz-Passarge Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
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:

57
Inheritance:
autosomal recessive


HPO:

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


Classifications:



Summaries for Schopf-Schulz-Passarge Syndrome

UniProtKB/Swiss-Prot : 75 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. An important gene associated with Schopf-Schulz-Passarge Syndrome is WNT10A (Wnt Family Member 10A). Affiliated tissues include skin, eye and lung, and related phenotypes are palmoplantar keratoderma and alopecia

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 top 50) (show all 60)
# Related Disease Score Top Affiliating Genes
1 syphilis 10.1
2 yaws 10.1
3 celiac disease 1 10.0
4 dermatitis 9.9
5 glyceraldehyde-3-phosphate dehydrogenase deficiency 9.9
6 blood group--ul system 9.8
7 multiple sclerosis 9.8
8 glioma susceptibility 1 9.8
9 spondyloepiphyseal dysplasia with congenital joint dislocations 9.8
10 pernicious anemia 9.8
11 pneumothorax, primary spontaneous 9.8
12 prader-willi syndrome 9.8
13 spondyloepiphyseal dysplasia congenita 9.8
14 tetralogy of fallot 9.8
15 lung cancer 9.8
16 chediak-higashi syndrome 9.8
17 tropical calcific pancreatitis 9.8
18 buruli ulcer 9.8
19 polyarteritis nodosa, childhood-onset 9.8
20 sting-associated vasculopathy, infantile-onset 9.8
21 crohn's disease 9.8
22 hepatitis 9.8
23 hepatitis b 9.8
24 neuromyelitis optica 9.8
25 skin disease 9.8
26 salmonellosis 9.8
27 endometritis 9.8
28 dry eye syndrome 9.8
29 glucose intolerance 9.8
30 mastitis 9.8
31 spotted fever 9.8
32 subdural empyema 9.8
33 denture stomatitis 9.8
34 pleuropneumonia 9.8
35 pneumothorax 9.8
36 constipation 9.8
37 synovitis 9.8
38 contact dermatitis 9.8
39 adenocarcinoma 9.8
40 glioblastoma multiforme 9.8
41 lipid metabolism disorder 9.8
42 central nervous system disease 9.8
43 vestibular disease 9.8
44 cellulitis 9.8
45 thrombophlebitis 9.8
46 peptic ulcer disease 9.8
47 periodontitis 9.8
48 nervous system disease 9.8
49 decubitus ulcer 9.8
50 psoriasis 9.8

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:

57
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:

59 32 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 palmoplantar keratoderma 59 32 hallmark (90%) Very frequent (99-80%) HP:0000982
2 alopecia 59 32 frequent (33%) Frequent (79-30%) HP:0001596
3 hypotrichosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001006
4 hypodontia 59 32 frequent (33%) Frequent (79-30%) HP:0000668
5 ovarian neoplasm 59 32 occasional (7.5%) Occasional (29-5%) HP:0100615
6 aplasia/hypoplasia of the eyebrow 59 32 frequent (33%) Frequent (79-30%) HP:0100840
7 bird-like facies 59 32 occasional (7.5%) Occasional (29-5%) HP:0000320
8 squamous cell carcinoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0002860
9 ectodermal dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000968
10 premature loss of primary teeth 59 32 frequent (33%) Frequent (79-30%) HP:0006323
11 basal cell carcinoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0002671
12 facial telangiectasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0007380
13 abnormality of the eye 32 HP:0000478
14 small nail 32 HP:0001792
15 ridged nail 32 HP:0001807
16 onycholysis 32 HP:0001806
17 thin nail 32 HP:0001816
18 narrow nail 32 HP:0011313
19 poroma 32 HP:0031405
20 apocrine hidrocystoma 32 HP:0031454

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 29 WNT10A

Anatomical Context for Schopf-Schulz-Passarge Syndrome

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

41
Skin, Eye, Lung

Publications for Schopf-Schulz-Passarge Syndrome

Articles related to Schopf-Schulz-Passarge Syndrome:

(show all 14)
# Title Authors Year
1
Schöpf-Schulz-Passarge Syndrome: Previously Unreported WNT10A Genotype and Phenotypes in 9 Family Members. ( 30265373 )
2018
2
Schopf-Schulz-Passarge Syndrome. ( 30505790 )
2018
3
Characterization of soluble soybean (SSPS) polysaccharide and development of eco-friendly SSPS/TiO2 nanoparticle bionanocomposites. ( 29410370 )
2018
4
Author Correction: A role for small secreted proteins (SSPs) in a saprophytic fungal lifestyle: Ligninolytic enzyme regulation in Pleurotus ostreatus. ( 29511233 )
2018
5
Genetic and Molecular Regulation of Seed Storage Proteins (SSPs) to Improve Protein Nutritional Value of Oilseed Rape (Brassica napus L.) Seeds. ( 30013586 )
2018
6
Genome-wide identification and characterization of seed storage proteins (SSPs) of foxtail millet (Setaria italica (L.) P. Beauv.). ( 30237962 )
2018
7
Reactive nitrogen losses from China's food system for the shared socioeconomic pathways (SSPs). ( 28686992 )
2017
8
A role for small secreted proteins (SSPs) in a saprophytic fungal lifestyle: Ligninolytic enzyme regulation in Pleurotus ostreatus. ( 29109463 )
2017
9
Kingdom-Wide Analysis of Fungal Small Secreted Proteins (SSPs) Reveals their Potential Role in Host Association. ( 26925088 )
2016
10
Using Specialist Screening Practitioners (SSPs) to increase uptake of the Bowel Scope (Flexible Sigmoidoscopy) Screening Programme: a study protocol for a feasibility single-stage phase II trial. ( 27965871 )
2016
11
Identification of small secreted peptides (SSPs) in maize and expression analysis of partial SSP genes in reproductive tissues. ( 25048445 )
2014
12
Accelerated evolution of small serum proteins (SSPs)-The PSP94 family proteins in a Japanese viper. ( 18817856 )
2008
13
A case of Schöpf-Schulz-Passarge syndrome. ( 16045686 )
2005
14
Schöpf-Schulz-Passarge syndrome with an unusual pattern of inheritance. ( 9217219 )
1997

Variations for Schopf-Schulz-Passarge Syndrome

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

75
# 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 (show top 50) (show all 104)
# 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.321C> A (p.Cys107Ter) single nucleotide variant Pathogenic rs121908119 GRCh38 Chromosome 2, 218882368: 218882368
3 WNT10A NM_025216.2(WNT10A): c.682T> A (p.Phe228Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs121908120 GRCh37 Chromosome 2, 219755011: 219755011
4 WNT10A NM_025216.2(WNT10A): c.682T> A (p.Phe228Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs121908120 GRCh38 Chromosome 2, 218890289: 218890289
5 WNT10A NM_025216.2(WNT10A): c.649G> A (p.Asp217Asn) single nucleotide variant Likely benign rs146902156 GRCh37 Chromosome 2, 219754978: 219754978
6 WNT10A NM_025216.2(WNT10A): c.649G> A (p.Asp217Asn) single nucleotide variant Likely benign rs146902156 GRCh38 Chromosome 2, 218890256: 218890256
7 WNT10A NM_025216.2(WNT10A): c.637G> A (p.Gly213Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs147680216 GRCh37 Chromosome 2, 219754966: 219754966
8 WNT10A NM_025216.2(WNT10A): c.637G> A (p.Gly213Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs147680216 GRCh38 Chromosome 2, 218890244: 218890244
9 WNT10A NM_025216.2(WNT10A): c.511C> T (p.Arg171Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs116998555 GRCh37 Chromosome 2, 219754840: 219754840
10 WNT10A NM_025216.2(WNT10A): c.511C> T (p.Arg171Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs116998555 GRCh38 Chromosome 2, 218890118: 218890118
11 WNT10A NM_025216.2(WNT10A): c.-341A> G single nucleotide variant Uncertain significance rs762914440 GRCh38 Chromosome 2, 218880655: 218880655
12 WNT10A NM_025216.2(WNT10A): c.-341A> G single nucleotide variant Uncertain significance rs762914440 GRCh37 Chromosome 2, 219745377: 219745377
13 WNT10A NM_025216.2(WNT10A): c.-285C> T single nucleotide variant Uncertain significance rs886055636 GRCh38 Chromosome 2, 218880711: 218880711
14 WNT10A NM_025216.2(WNT10A): c.-285C> T single nucleotide variant Uncertain significance rs886055636 GRCh37 Chromosome 2, 219745433: 219745433
15 WNT10A NM_025216.2(WNT10A): c.-249G> C single nucleotide variant Uncertain significance rs571829301 GRCh38 Chromosome 2, 218880747: 218880747
16 WNT10A NM_025216.2(WNT10A): c.-249G> C single nucleotide variant Uncertain significance rs571829301 GRCh37 Chromosome 2, 219745469: 219745469
17 WNT10A NM_025216.2(WNT10A): c.-203dupC duplication Likely benign rs886055637 GRCh38 Chromosome 2, 218880793: 218880793
18 WNT10A NM_025216.2(WNT10A): c.-203dupC duplication Likely benign rs886055637 GRCh37 Chromosome 2, 219745515: 219745515
19 WNT10A NM_025216.2(WNT10A): c.149C> T (p.Pro50Leu) single nucleotide variant Uncertain significance rs199980023 GRCh38 Chromosome 2, 218882196: 218882196
20 WNT10A NM_025216.2(WNT10A): c.149C> T (p.Pro50Leu) single nucleotide variant Uncertain significance rs199980023 GRCh37 Chromosome 2, 219746918: 219746918
21 WNT10A NM_025216.2(WNT10A): c.208C> T (p.Arg70Trp) single nucleotide variant Benign/Likely benign rs146460077 GRCh38 Chromosome 2, 218882255: 218882255
22 WNT10A NM_025216.2(WNT10A): c.208C> T (p.Arg70Trp) single nucleotide variant Benign/Likely benign rs146460077 GRCh37 Chromosome 2, 219746977: 219746977
23 WNT10A NM_025216.2(WNT10A): c.349C> T (p.Pro117Ser) single nucleotide variant Uncertain significance rs144212422 GRCh38 Chromosome 2, 218882396: 218882396
24 WNT10A NM_025216.2(WNT10A): c.349C> T (p.Pro117Ser) single nucleotide variant Uncertain significance rs144212422 GRCh37 Chromosome 2, 219747118: 219747118
25 WNT10A NM_025216.2(WNT10A): c.493G> A (p.Gly165Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs77583146 GRCh37 Chromosome 2, 219754822: 219754822
26 WNT10A NM_025216.2(WNT10A): c.493G> A (p.Gly165Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs77583146 GRCh38 Chromosome 2, 218890100: 218890100
27 WNT10A NM_025216.2(WNT10A): c.652A> G (p.Met218Val) single nucleotide variant Uncertain significance rs373991357 GRCh37 Chromosome 2, 219754981: 219754981
28 WNT10A NM_025216.2(WNT10A): c.652A> G (p.Met218Val) single nucleotide variant Uncertain significance rs373991357 GRCh38 Chromosome 2, 218890259: 218890259
29 WNT10A NM_025216.2(WNT10A): c.756+13C> A single nucleotide variant Uncertain significance rs745958462 GRCh37 Chromosome 2, 219755098: 219755098
30 WNT10A NM_025216.2(WNT10A): c.756+13C> A single nucleotide variant Uncertain significance rs745958462 GRCh38 Chromosome 2, 218890376: 218890376
31 WNT10A NM_025216.2(WNT10A): c.756+14C> T single nucleotide variant Likely benign rs200733269 GRCh37 Chromosome 2, 219755099: 219755099
32 WNT10A NM_025216.2(WNT10A): c.756+14C> T single nucleotide variant Likely benign rs200733269 GRCh38 Chromosome 2, 218890377: 218890377
33 WNT10A NM_025216.2(WNT10A): c.1003G> A (p.Asp335Asn) single nucleotide variant Likely benign rs545956598 GRCh37 Chromosome 2, 219757742: 219757742
34 WNT10A NM_025216.2(WNT10A): c.1003G> A (p.Asp335Asn) single nucleotide variant Likely benign rs545956598 GRCh38 Chromosome 2, 218893020: 218893020
35 WNT10A NM_025216.2(WNT10A): c.*15C> T single nucleotide variant Uncertain significance rs886055645 GRCh38 Chromosome 2, 218893286: 218893286
36 WNT10A NM_025216.2(WNT10A): c.*15C> T single nucleotide variant Uncertain significance rs886055645 GRCh37 Chromosome 2, 219758008: 219758008
37 WNT10A NM_025216.2(WNT10A): c.-433C> G single nucleotide variant Uncertain significance rs886055633 GRCh38 Chromosome 2, 218880563: 218880563
38 WNT10A NM_025216.2(WNT10A): c.-433C> G single nucleotide variant Uncertain significance rs886055633 GRCh37 Chromosome 2, 219745285: 219745285
39 WNT10A NM_025216.2(WNT10A): c.315G> C (p.Trp105Cys) single nucleotide variant Uncertain significance rs886055642 GRCh38 Chromosome 2, 218882362: 218882362
40 WNT10A NM_025216.2(WNT10A): c.315G> C (p.Trp105Cys) single nucleotide variant Uncertain significance rs886055642 GRCh37 Chromosome 2, 219747084: 219747084
41 WNT10A NM_025216.2(WNT10A): c.498C> T (p.Asp166=) single nucleotide variant Uncertain significance rs143463683 GRCh37 Chromosome 2, 219754827: 219754827
42 WNT10A NM_025216.2(WNT10A): c.498C> T (p.Asp166=) single nucleotide variant Uncertain significance rs143463683 GRCh38 Chromosome 2, 218890105: 218890105
43 WNT10A NM_025216.2(WNT10A): c.817C> A (p.Leu273Ile) single nucleotide variant Benign rs111903177 GRCh37 Chromosome 2, 219757556: 219757556
44 WNT10A NM_025216.2(WNT10A): c.817C> A (p.Leu273Ile) single nucleotide variant Benign rs111903177 GRCh38 Chromosome 2, 218892834: 218892834
45 WNT10A NM_025216.2(WNT10A): c.841C> G (p.Pro281Ala) single nucleotide variant Likely benign rs541715493 GRCh37 Chromosome 2, 219757580: 219757580
46 WNT10A NM_025216.2(WNT10A): c.841C> G (p.Pro281Ala) single nucleotide variant Likely benign rs541715493 GRCh38 Chromosome 2, 218892858: 218892858
47 WNT10A NM_025216.2(WNT10A): c.1017C> T (p.Phe339=) single nucleotide variant Uncertain significance rs531326479 GRCh37 Chromosome 2, 219757756: 219757756
48 WNT10A NM_025216.2(WNT10A): c.1017C> T (p.Phe339=) single nucleotide variant Uncertain significance rs531326479 GRCh38 Chromosome 2, 218893034: 218893034
49 WNT10A NM_025216.2(WNT10A): c.1049C> T (p.Pro350Leu) single nucleotide variant Likely benign rs564146190 GRCh38 Chromosome 2, 218893066: 218893066
50 WNT10A NM_025216.2(WNT10A): c.1049C> T (p.Pro350Leu) single nucleotide variant Likely benign rs564146190 GRCh37 Chromosome 2, 219757788: 219757788

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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....