MCID: SCH038
MIFTS: 30

Schopf-Schulz-Passarge Syndrome

Categories: Genetic diseases, Skin diseases, Fetal diseases, Oral diseases, Rare diseases, Eye 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 59
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

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 and eye, and related phenotypes are bird-like facies and hypodontia

Wikipedia : 76 Schöpf–Schulz–Passarge syndrome (also known as \"eyelid cysts, palmoplantar keratoderma, hypodontia, and... more...

Description from OMIM: 224750

Related Diseases for Schopf-Schulz-Passarge Syndrome

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

# 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

Publications for Schopf-Schulz-Passarge Syndrome

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 98)
# 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.511C> T (p.Arg171Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs116998555 GRCh37 Chromosome 2, 219754840: 219754840
4 WNT10A NM_025216.2(WNT10A): c.511C> T (p.Arg171Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs116998555 GRCh38 Chromosome 2, 218890118: 218890118
5 WNT10A NM_025216.2(WNT10A): c.-341A> G single nucleotide variant Uncertain significance rs762914440 GRCh38 Chromosome 2, 218880655: 218880655
6 WNT10A NM_025216.2(WNT10A): c.-341A> G single nucleotide variant Uncertain significance rs762914440 GRCh37 Chromosome 2, 219745377: 219745377
7 WNT10A NM_025216.2(WNT10A): c.-285C> T single nucleotide variant Uncertain significance rs886055636 GRCh38 Chromosome 2, 218880711: 218880711
8 WNT10A NM_025216.2(WNT10A): c.-285C> T single nucleotide variant Uncertain significance rs886055636 GRCh37 Chromosome 2, 219745433: 219745433
9 WNT10A NM_025216.2(WNT10A): c.-249G> C single nucleotide variant Uncertain significance rs571829301 GRCh38 Chromosome 2, 218880747: 218880747
10 WNT10A NM_025216.2(WNT10A): c.-249G> C single nucleotide variant Uncertain significance rs571829301 GRCh37 Chromosome 2, 219745469: 219745469
11 WNT10A NM_025216.2(WNT10A): c.-203dupC duplication Likely benign rs886055637 GRCh38 Chromosome 2, 218880793: 218880793
12 WNT10A NM_025216.2(WNT10A): c.-203dupC duplication Likely benign rs886055637 GRCh37 Chromosome 2, 219745515: 219745515
13 WNT10A NM_025216.2(WNT10A): c.149C> T (p.Pro50Leu) single nucleotide variant Uncertain significance rs199980023 GRCh38 Chromosome 2, 218882196: 218882196
14 WNT10A NM_025216.2(WNT10A): c.149C> T (p.Pro50Leu) single nucleotide variant Uncertain significance rs199980023 GRCh37 Chromosome 2, 219746918: 219746918
15 WNT10A NM_025216.2(WNT10A): c.208C> T (p.Arg70Trp) single nucleotide variant Benign/Likely benign rs146460077 GRCh38 Chromosome 2, 218882255: 218882255
16 WNT10A NM_025216.2(WNT10A): c.208C> T (p.Arg70Trp) single nucleotide variant Benign/Likely benign rs146460077 GRCh37 Chromosome 2, 219746977: 219746977
17 WNT10A NM_025216.2(WNT10A): c.349C> T (p.Pro117Ser) single nucleotide variant Uncertain significance rs144212422 GRCh38 Chromosome 2, 218882396: 218882396
18 WNT10A NM_025216.2(WNT10A): c.349C> T (p.Pro117Ser) single nucleotide variant Uncertain significance rs144212422 GRCh37 Chromosome 2, 219747118: 219747118
19 WNT10A NM_025216.2(WNT10A): c.493G> A (p.Gly165Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs77583146 GRCh37 Chromosome 2, 219754822: 219754822
20 WNT10A NM_025216.2(WNT10A): c.493G> A (p.Gly165Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs77583146 GRCh38 Chromosome 2, 218890100: 218890100
21 WNT10A NM_025216.2(WNT10A): c.652A> G (p.Met218Val) single nucleotide variant Uncertain significance rs373991357 GRCh37 Chromosome 2, 219754981: 219754981
22 WNT10A NM_025216.2(WNT10A): c.652A> G (p.Met218Val) single nucleotide variant Uncertain significance rs373991357 GRCh38 Chromosome 2, 218890259: 218890259
23 WNT10A NM_025216.2(WNT10A): c.756+13C> A single nucleotide variant Uncertain significance rs745958462 GRCh37 Chromosome 2, 219755098: 219755098
24 WNT10A NM_025216.2(WNT10A): c.756+13C> A single nucleotide variant Uncertain significance rs745958462 GRCh38 Chromosome 2, 218890376: 218890376
25 WNT10A NM_025216.2(WNT10A): c.756+14C> T single nucleotide variant Likely benign rs200733269 GRCh37 Chromosome 2, 219755099: 219755099
26 WNT10A NM_025216.2(WNT10A): c.756+14C> T single nucleotide variant Likely benign rs200733269 GRCh38 Chromosome 2, 218890377: 218890377
27 WNT10A NM_025216.2(WNT10A): c.1003G> A (p.Asp335Asn) single nucleotide variant Likely benign rs545956598 GRCh38 Chromosome 2, 218893020: 218893020
28 WNT10A NM_025216.2(WNT10A): c.1003G> A (p.Asp335Asn) single nucleotide variant Likely benign rs545956598 GRCh37 Chromosome 2, 219757742: 219757742
29 WNT10A NM_025216.2(WNT10A): c.*15C> T single nucleotide variant Uncertain significance rs886055645 GRCh38 Chromosome 2, 218893286: 218893286
30 WNT10A NM_025216.2(WNT10A): c.*15C> T single nucleotide variant Uncertain significance rs886055645 GRCh37 Chromosome 2, 219758008: 219758008
31 WNT10A NM_025216.2(WNT10A): c.-433C> G single nucleotide variant Uncertain significance rs886055633 GRCh38 Chromosome 2, 218880563: 218880563
32 WNT10A NM_025216.2(WNT10A): c.-433C> G single nucleotide variant Uncertain significance rs886055633 GRCh37 Chromosome 2, 219745285: 219745285
33 WNT10A NM_025216.2(WNT10A): c.315G> C (p.Trp105Cys) single nucleotide variant Uncertain significance rs886055642 GRCh38 Chromosome 2, 218882362: 218882362
34 WNT10A NM_025216.2(WNT10A): c.315G> C (p.Trp105Cys) single nucleotide variant Uncertain significance rs886055642 GRCh37 Chromosome 2, 219747084: 219747084
35 WNT10A NM_025216.2(WNT10A): c.498C> T (p.Asp166=) single nucleotide variant Uncertain significance rs143463683 GRCh37 Chromosome 2, 219754827: 219754827
36 WNT10A NM_025216.2(WNT10A): c.498C> T (p.Asp166=) single nucleotide variant Uncertain significance rs143463683 GRCh38 Chromosome 2, 218890105: 218890105
37 WNT10A NM_025216.2(WNT10A): c.817C> A (p.Leu273Ile) single nucleotide variant Benign rs111903177 GRCh37 Chromosome 2, 219757556: 219757556
38 WNT10A NM_025216.2(WNT10A): c.817C> A (p.Leu273Ile) single nucleotide variant Benign rs111903177 GRCh38 Chromosome 2, 218892834: 218892834
39 WNT10A NM_025216.2(WNT10A): c.841C> G (p.Pro281Ala) single nucleotide variant Likely benign rs541715493 GRCh37 Chromosome 2, 219757580: 219757580
40 WNT10A NM_025216.2(WNT10A): c.841C> G (p.Pro281Ala) single nucleotide variant Likely benign rs541715493 GRCh38 Chromosome 2, 218892858: 218892858
41 WNT10A NM_025216.2(WNT10A): c.1017C> T (p.Phe339=) single nucleotide variant Uncertain significance rs531326479 GRCh37 Chromosome 2, 219757756: 219757756
42 WNT10A NM_025216.2(WNT10A): c.1017C> T (p.Phe339=) single nucleotide variant Uncertain significance rs531326479 GRCh38 Chromosome 2, 218893034: 218893034
43 WNT10A NM_025216.2(WNT10A): c.1049C> T (p.Pro350Leu) single nucleotide variant Likely benign rs564146190 GRCh38 Chromosome 2, 218893066: 218893066
44 WNT10A NM_025216.2(WNT10A): c.1049C> T (p.Pro350Leu) single nucleotide variant Likely benign rs564146190 GRCh37 Chromosome 2, 219757788: 219757788
45 WNT10A NM_025216.2(WNT10A): c.*115C> T single nucleotide variant Uncertain significance rs886055646 GRCh38 Chromosome 2, 218893386: 218893386
46 WNT10A NM_025216.2(WNT10A): c.*115C> T single nucleotide variant Uncertain significance rs886055646 GRCh37 Chromosome 2, 219758108: 219758108
47 WNT10A NM_025216.2(WNT10A): c.*431C> T single nucleotide variant Likely benign rs77272502 GRCh38 Chromosome 2, 218893702: 218893702
48 WNT10A NM_025216.2(WNT10A): c.*431C> T single nucleotide variant Likely benign rs77272502 GRCh37 Chromosome 2, 219758424: 219758424
49 WNT10A NM_025216.2(WNT10A): c.-400T> G single nucleotide variant Likely benign rs556182426 GRCh38 Chromosome 2, 218880596: 218880596
50 WNT10A NM_025216.2(WNT10A): c.-400T> G single nucleotide variant Likely benign rs556182426 GRCh37 Chromosome 2, 219745318: 219745318

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

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