Schopf-Schulz-Passarge Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: SCH038 MIFTS: 30	Schopf-Schulz-Passarge Syndrome Categories: Genetic diseases, Skin diseases, Fetal diseases, Oral diseases, Rare diseases, Eye diseases
Genes Variations Tissues Related diseases Symptoms & Phenotypes Download Expand all tables

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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:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Skin diseases Oral diseases Eye diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other congenital malformations of skin

Other specified congenital malformations of skin

Orphanet: ⁵⁹

Rare skin diseases

Developmental anomalies during embryogenesis

Rare odontological diseases

External Ids:

OMIM ⁵⁷ 224750

Orphanet ⁵⁹ ORPHA50944

ICD10 via Orphanet ³⁴ Q82.8

UMLS via Orphanet ⁷⁴ C1857069

MedGen ⁴² C1857069

MeSH ⁴⁴ D004476

KEGG ³⁷ H00781

UMLS ⁷³ C1857069

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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

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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 40)

#	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	prader-willi syndrome	9.7
8	spondyloepiphyseal dysplasia congenita	9.7
9	lung cancer	9.7
10	buruli ulcer	9.7
11	gastric cancer	9.7
12	crohn's disease	9.7
13	skin disease	9.7
14	salmonellosis	9.7
15	endometritis	9.7
16	dry eye syndrome	9.7
17	subdural empyema	9.7
18	denture stomatitis	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	conjunctivitis	9.7
28	peptic ulcer disease	9.7
29	neuronitis	9.7
30	periodontitis	9.7
31	decubitus ulcer	9.7
32	psoriasis	9.7
33	stomatitis	9.7
34	irritable bowel syndrome	9.7
35	glioblastoma	9.7
36	mycobacterium chelonae	9.7
37	argyria	9.7
38	tooth agenesis, selective, 4	8.9	LOC107984111 WNT10A
39	odontoonychodermal dysplasia	8.6	LOC105373882 LOC107984111 WNT10A
40	tooth agenesis	8.5	LOC105373882 LOC107984111 WNT10A

Graphical network of the top 20 diseases related to Schopf-Schulz-Passarge Syndrome:

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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

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Drugs & Therapeutics for Schopf-Schulz-Passarge Syndrome

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

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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

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Anatomical Context for Schopf-Schulz-Passarge Syndrome

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

⁴¹

Skin, Eye

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Publications for Schopf-Schulz-Passarge Syndrome

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Genes for Schopf-Schulz-Passarge Syndrome

Genes related to Schopf-Schulz-Passarge Syndrome (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	WNT10A	Wnt Family Member 10A	Protein Coding	1680.76	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	19559398 22581971 23401279
2	LOC107984111	Uncharacterized LOC107984111	RNA Gene	9.56	GeneCards inferred via : Variants (show sections)
3	LOC105373882	Uncharacterized LOC105373882	RNA Gene	8.61	GeneCards inferred via : Variants (show sections)

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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

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Expression for Schopf-Schulz-Passarge Syndrome

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

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Pathways for Schopf-Schulz-Passarge Syndrome

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GO Terms for Schopf-Schulz-Passarge Syndrome

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