Schöpf-Schulz-Passarge syndrome

disease
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Also known as eccrine tumors-ectodermal dysplasiaeccrine tumours with ectodermal dysplasiakeratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndromepalmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndromepalmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndromeSCHOPF-Schulz-Passarge syndromeSSPS

Summary

Schöpf-Schulz-Passarge syndrome (MONDO:0009145) is a disease with 1 cohort gene.

At a glance

  • Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
  • Cohort genes: 1
  • ClinVar variants: 165
  • Phenotypes (HPO): 12

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

TypeClassValueGeographyValidation
Cases/families25WorldwideValidated
Point prevalence<1 / 1 000 000WorldwideValidated

Signs & symptoms

Clinical features (HPO)

12 HPO clinical features (Orphanet curated; top 12 by frequency):

HPO IDTermFrequency
HP:0000968Ectodermal dysplasiaVery frequent (80-99%)
HP:0000982Palmoplantar keratodermaVery frequent (80-99%)
HP:0007380Facial telangiectasiaVery frequent (80-99%)
HP:0008070Sparse hairVery frequent (80-99%)
HP:0000668HypodontiaFrequent (30-79%)
HP:0001596AlopeciaFrequent (30-79%)
HP:0006323Premature loss of primary teethFrequent (30-79%)
HP:0100840Aplasia/Hypoplasia of the eyebrowFrequent (30-79%)
HP:0000320Bird-like faciesOccasional (5-29%)
HP:0002671Basal cell carcinomaOccasional (5-29%)
HP:0002860Squamous cell carcinomaOccasional (5-29%)
HP:0100615Ovarian neoplasmOccasional (5-29%)

Identifiers

Disease identifiers

FieldValue
Canonical nameSchöpf-Schulz-Passarge syndrome
Mondo IDMONDO:0009145
MeSHC565607
OMIM224750
Orphanet50944
DOIDDOID:0111647
SNOMED CT700062000
UMLSC1857069
MedGen347366
GARD0016649
Is cancer (heuristic)no

Also known as: eccrine tumors-ectodermal dysplasia · eccrine tumours with ectodermal dysplasia · keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome · palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome · palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome · SCHOPF-Schulz-Passarge syndrome · SSPS

Data availability: 165 ClinVar variants · 1 GenCC gene-disease record.

Disease family

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › autosomal genetic disease › autosomal recessive diseaseSchöpf-Schulz-Passarge syndrome

Related subtypes (218): immunodeficiency-centromeric instability-facial anomalies syndrome, hypercalcemia, infantile, Ochoa syndrome, autosomal recessive Ehlers-Danlos syndrome, vascular type, hydrolethalus syndrome, 3-M syndrome, isolated hyperchlorhidrosis, dacryocystitis-osteopoikilosis syndrome, Hutchinson-Gilford progeria syndrome, achalasia microcephaly syndrome, acrorenal syndrome, autosomal recessive, beta-ketothiolase deficiency, autosomal recessive Alport syndrome, Alstrom syndrome, microphthalmia with limb anomalies, camptodactyly-arthropathy-coxa vara-pericarditis syndrome, Behr syndrome, bifid nose, autosomal recessive, Bloom syndrome, Bowen-Conradi syndrome, camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia, heart defects-limb shortening syndrome, autosomal recessive palmoplantar keratoderma and congenital alopecia, COFS syndrome, craniometaphyseal dysplasia, autosomal recessive, Fraser syndrome, cystic fibrosis, polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly, persistent hyperplastic primary vitreous, autosomal recessive, Donnai-Barrow syndrome, cleft lip/palate-ectodermal dysplasia syndrome, Ellis-van Creveld syndrome, Wolcott-Rallison syndrome, autosomal recessive faciodigitogenital syndrome, acromesomelic dysplasia 2B, brittle cornea syndrome, triple-A syndrome, autosomal recessive humeroradial synostosis, multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome, hydrocephalus, nonsyndromic, autosomal recessive 1, autosomal recessive hydrocephalus due to congenital stenosis of aqueduct of Sylvius, hypertelorism, microtia, facial clefting syndrome, hypoparathyroidism-retardation-dysmorphism syndrome, Vici syndrome, Johanson-Blizzard syndrome, autosomal recessive Kenny-Caffey syndrome, Papillon-Lefevre disease, Haim-Munk syndrome, Laurence-Moon syndrome, Donohue syndrome, lipase deficiency, combined, autosomal recessive familial Mediterranean fever, thiamine-responsive megaloblastic anemia syndrome, cartilage-hair hypoplasia, Nijmegen breakage syndrome, pseudo-TORCH syndrome, Galloway-Mowat syndrome, mulibrey nanism, myotonia congenita, autosomal recessive, Schwartz-Jampel syndrome, proteosome-associated autoinflammatory syndrome, Netherton syndrome, Niemann-Pick disease type A, oculodentodigital dysplasia, autosomal recessive, odonto-onycho-dermal dysplasia, autosomal recessive omodysplasia, osteoporosis-pseudoglioma syndrome, Shwachman-Diamond syndrome, phenylketonuria, Bjornstad syndrome, Laron syndrome, autosomal recessive polycystic kidney disease, autosomal recessive inherited pseudoxanthoma elasticum, autosomal recessive multiple pterygium syndrome, rapadilino syndrome, short-rib thoracic dysplasia 9 with or without polydactyly, autosomal recessive Robinow syndrome, Sjogren-Larsson syndrome, scapuloperoneal spinal muscular atrophy, autosomal recessive, spondyloepiphyseal dysplasia tarda, autosomal recessive, inherited threoninemia, Pendred syndrome, autosomal recessive spondylocostal dysostosis, Werner syndrome, ABCD syndrome, Naxos disease, autosomal recessive amelia, human HOXA1 syndromes, sickle cell disease, autosomal recessive proximal renal tubular acidosis, hyper-IgM syndrome type 2, temtamy preaxial brachydactyly syndrome, TH-deficient dopa-responsive dystonia, craniosynostosis syndrome, autosomal recessive, Niemann-Pick disease type B, skin fragility-woolly hair-palmoplantar keratoderma syndrome, CoQ-responsive OXPHOS deficiency, familial adenomatous polyposis 2, Pierson syndrome, palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome, cardiomyopathy-hypotonia-lactic acidosis syndrome, PHARC syndrome, Kahrizi syndrome, cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies, congenital prothrombin deficiency, immunodeficiency 31B, dyskeratosis congenita, autosomal recessive 2, dyskeratosis congenita, autosomal recessive 3, Nestor-Guillermo progeria syndrome, leukoencephalopathy with calcifications and cysts, mitochondrial pyruvate carrier deficiency, branched-chain keto acid dehydrogenase kinase deficiency, dyskeratosis congenita, autosomal recessive 5, hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome, alacrima, achalasia, and intellectual disability syndrome, hyperlipoproteinemia, type 1D, microcephaly and chorioretinopathy 2, congenital stationary night blindness 1G, combined oxidative phosphorylation deficiency 29, hypermanganesemia with dystonia 2, growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy, gnb5-related intellectual disability-cardiac arrhythmia syndrome, autosomal recessive spastic paraplegia type 78, autosomal recessive limb-girdle muscular dystrophy, Bardet-Biedl syndrome, autosomal recessive cerebellar ataxia, neuronopathy, distal hereditary motor, autosomal recessive, UV-sensitive syndrome, Ehlers-Danlos syndrome, kyphoscoliotic type 1, Cockayne syndrome, hyperphenylalaninemia due to tetrahydrobiopterin deficiency, leukoencephalopathy-palmoplantar keratoderma syndrome, autosomal recessive hypohidrotic ectodermal dysplasia, Warburg micro syndrome, autosomal recessive primary microcephaly, autosomal recessive progressive external ophthalmoplegia, Meier-Gorlin syndrome, autosomal recessive sideroblastic anemia, autosomal recessive intermediate Charcot-Marie-Tooth disease, Perrault syndrome, autosomal recessive hypophosphatemic rickets, de Barsy syndrome, leukocyte adhesion deficiency, Senior-Loken syndrome, autosomal recessive spastic ataxia, childhood-onset autosomal recessive myopathy with external ophthalmoplegia, autosomal recessive cerebral atrophy, GM3 synthase deficiency, autosomal recessive distal renal tubular acidosis, pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome, autosomal recessive brachyolmia, Aicardi-Goutieres syndrome, homocystinuria without methylmalonic aciduria, Niemann-Pick disease type C, nephronophthisis, autosomal recessive osteopetrosis, peroxisome biogenesis disorder, congenital non-bullous ichthyosiform erythroderma, Seckel syndrome, Usher syndrome, autosomal recessive cutis laxa type 1, autosomal recessive cutis laxa type 2, hearing loss, autosomal recessive, microcephaly, growth restriction, and increased sister chromatid exchange 2, encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1, congenital vertebral-cardiac-renal anomalies syndrome, hair defect with photosensitivity and intellectual disability syndrome, autosomal recessive severe congenital neutropenia, severe combined immunodeficiency due to CARMIL2 deficiency, extraoral halitosis due to methanethiol oxidase deficiency, neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities, mitochondrial complex 2 deficiency, nuclear type 3, mitochondrial complex 2 deficiency, nuclear type 4, mismatch repair cancer syndrome, spondyloepimetaphyseal dysplasia with joint laxity, type 3, Kilquist syndrome, Duane anomaly-myopathy-scoliosis syndrome, autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect, immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome, optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome, congenital myopathy with reduced type 2 muscle fibers, NAD(P)HX dehydratase deficiency, autosomal recessive ocular albinism, ichthyosis linearis circumflexa, eosinophil peroxidase deficiency, hyperphenylalaninemia due to DNAJC12 deficiency, autosomal recessive epidermolytic ichthyosis, Ehlers-Danlos syndrome, classic-like, 2, joint laxity, short stature, and myopia, HELIX syndrome, auditory neuropathy-optic atrophy syndrome, glycosylphosphatidylinositol biosynthesis defect 15, neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures, SCN4A-related myopathy, autosomal recessive, Uner Tan Syndrome, nephropathic cystinosis, Imerslund-Grasbeck syndrome type 1, Imerslund-Grasbeck syndrome type 2, permanent neonatal diabetes mellitus 1, growth hormone insensitivity with immune dysregulation 1, autosomal recessive, Rajab interstitial lung disease with brain calcifications 1, Roberts-SC phocomelia syndrome, neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, RPE65-related recessive retinopathy, GUCY2D-related recessive retinopathy, autosomal recessive titinopathy, intellectual disability, autosomal recessive, ALPL-related autosomal recessive hypophosphatasia, spastic paraplegia 18b, autosomal recessive, CEP164-related ciliopathy, RP1-related recessive retinopathy, pseudohypoaldosteronism, type IB2, autosomal recessive, pseudohypoaldosteronism, type IB3, autosomal recessive, spastic paraplegia 30B, autosomal recessive, cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 1, brain small vessel disease 2B, autosomal recessive, IMPG1-related recessive retinopathy, PROM1-related recessive retinopathy

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

ClinVar germline variants

165 retrieved; paginated sample, class counts are floors:

66 uncertain significance, 25 conflicting classifications of pathogenicity, 24 likely benign, 23 pathogenic/likely pathogenic, 17 likely pathogenic, 4 benign/likely benign, 3 pathogenic, 3 benign

ClinVarVariant (HGVS)GeneClassificationReview
1072161NM_025216.3(WNT10A):c.990_1003dup (p.Asp335fs)WNT10APathogenic/Likely pathogeniccriteria provided, multiple submitters, no conflicts
1074378NM_025216.3(WNT10A):c.832C>T (p.Gln278Ter)WNT10APathogenic/Likely pathogeniccriteria provided, multiple submitters, no conflicts
1466056NM_025216.3(WNT10A):c.1A>T (p.Met1Leu)WNT10APathogenic/Likely pathogeniccriteria provided, multiple submitters, no conflicts
1484123NM_025216.3(WNT10A):c.322T>C (p.Ser108Pro)WNT10APathogenic/Likely pathogeniccriteria provided, multiple submitters, no conflicts
1904869NM_025216.3(WNT10A):c.3G>A (p.Met1Ile)WNT10APathogenic/Likely pathogeniccriteria provided, multiple submitters, no conflicts
1916936NM_025216.3(WNT10A):c.37C>T (p.Arg13Ter)WNT10APathogenic/Likely pathogeniccriteria provided, multiple submitters, no conflicts
2026165NM_025216.3(WNT10A):c.68G>A (p.Trp23Ter)WNT10APathogenic/Likely pathogeniccriteria provided, multiple submitters, no conflicts
265292NM_025216.3(WNT10A):c.391G>A (p.Ala131Thr)WNT10APathogenic/Likely pathogeniccriteria provided, multiple submitters, no conflicts
265293NM_025216.3(WNT10A):c.742C>T (p.Arg248Ter)WNT10APathogeniccriteria provided, multiple submitters, no conflicts
265294NM_025216.3(WNT10A):c.803C>G (p.Ser268Ter)WNT10APathogeniccriteria provided, multiple submitters, no conflicts
3585674NM_025216.3(WNT10A):c.1226_1230del (p.Ile409fs)WNT10APathogenic/Likely pathogeniccriteria provided, multiple submitters, no conflicts
3753111NM_025216.3(WNT10A):c.812del (p.Cys271fs)WNT10APathogenic/Likely pathogeniccriteria provided, multiple submitters, no conflicts
378862NM_025216.3(WNT10A):c.1168G>T (p.Glu390Ter)WNT10APathogenic/Likely pathogeniccriteria provided, multiple submitters, no conflicts
432003NM_025216.3(WNT10A):c.1084T>C (p.Cys362Arg)WNT10APathogenic/Likely pathogeniccriteria provided, multiple submitters, no conflicts
4461NM_025216.3(WNT10A):c.321C>A (p.Cys107Ter)WNT10APathogenic/Likely pathogeniccriteria provided, multiple submitters, no conflicts
4463NM_025216.3(WNT10A):c.383G>A (p.Arg128Gln)WNT10APathogenic/Likely pathogeniccriteria provided, multiple submitters, no conflicts
464181NM_025216.3(WNT10A):c.382C>T (p.Arg128Ter)WNT10APathogenic/Likely pathogeniccriteria provided, multiple submitters, no conflicts
464182NM_025216.3(WNT10A):c.433G>A (p.Val145Met)WNT10APathogenic/Likely pathogeniccriteria provided, multiple submitters, no conflicts
4787065NM_025216.3(WNT10A):c.289C>T (p.Gln97Ter)WNT10APathogenic/Likely pathogeniccriteria provided, multiple submitters, no conflicts
532827NM_025216.3(WNT10A):c.310C>T (p.Arg104Cys)WNT10APathogenic/Likely pathogeniccriteria provided, multiple submitters, no conflicts
532829NM_025216.3(WNT10A):c.910A>C (p.Asn304His)WNT10APathogenic/Likely pathogeniccriteria provided, multiple submitters, no conflicts
559394NM_025216.3(WNT10A):c.949del (p.Ala317fs)WNT10APathogenic/Likely pathogeniccriteria provided, multiple submitters, no conflicts
639357NM_025216.3(WNT10A):c.694del (p.Arg232fs)WNT10APathogenic/Likely pathogeniccriteria provided, multiple submitters, no conflicts
68843NM_025216.3(WNT10A):c.283G>A (p.Glu95Lys)WNT10APathogenic/Likely pathogeniccriteria provided, multiple submitters, no conflicts
841749NM_025216.3(WNT10A):c.814C>T (p.Gln272Ter)WNT10APathogenic/Likely pathogeniccriteria provided, multiple submitters, no conflicts
936775NM_025216.3(WNT10A):c.376+1G>AWNT10APathogeniccriteria provided, multiple submitters, no conflicts
1950565NM_025216.3(WNT10A):c.113+1G>AWNT10ALikely pathogeniccriteria provided, multiple submitters, no conflicts
2577028NM_025216.3(WNT10A):c.889G>A (p.Ala297Thr)WNT10ALikely pathogeniccriteria provided, multiple submitters, no conflicts
3039373NM_025216.3(WNT10A):c.532_537delinsA (p.Gln178fs)WNT10ALikely pathogeniccriteria provided, single submitter
3585673NM_025216.3(WNT10A):c.376G>A (p.Gly126Ser)WNT10ALikely pathogeniccriteria provided, single submitter

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 10 · Orphanet: 4 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

GenCC gene–disease validity (cohort genes)

the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.

GeneClassificationInheritanceDiseaseRecords
WNT10ASupportiveAutosomal dominantSchöpf-Schulz-Passarge syndrome10

Orphanet rare-disease linkage (cohort genes)

GeneOrphanet IDRare disease
WNT10AOrphanet:248Autosomal recessive hypohidrotic ectodermal dysplasia
WNT10AOrphanet:2721Odonto-onycho-dermal dysplasia
WNT10AOrphanet:50944Schöpf-Schulz-Passarge syndrome
WNT10AOrphanet:99798Oligodontia

Cohort genes → proteins

1 cohort genes, 1 distinct canonical proteins.

Evidence partition

SubsetGenes
multi_evidence1

Cohort genes (full)

SymbolHGNCEnsemblUniProtNameEvidence
WNT10AHGNC:13829ENSG00000135925Q9GZT5Protein Wnt-10agencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

SymbolProtein nameFunction (lead sentence)
WNT10AProtein Wnt-10aLigand for members of the frizzled family of seven transmembrane receptors.

Protein-family classification

Druggable: 0 · Difficult: 0 · Unknown: 1 · Druggable fraction: 0.0

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

FamilyGenesFoldFDR
Other/Unknown11.8×0.558

Per-gene assignment

SymbolFamilyDruggable?ECInterPro (top 3)
WNT10AOther/UnknownnoWnt, Wnt10, Wnt_CS

Expression context

Cohort genes with no expression data: 0.

1 cohort gene are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

BucketGenes
narrow (1-5 tissues)0
moderate (6-20)0
broad (>20)1
unknown0

Top tissues across cohort

TissueCohort genes
bone marrow cell1
lower esophagus mucosa1
primordial germ cell in gonad1

Per-gene tissue summary (top 30)

SymbolBgee breadthFANTOM5 breadthSCXATop tissues
WNT10A151broadmarkerprimordial germ cell in gonad, lower esophagus mucosa, bone marrow cell

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

SymbolInteractor count
WNT10A1,092

Structural data

PDB: 0 · AlphaFold-only: 1 · No structure: 0

AlphaFold-only cohort genes (top 30 by pLDDT)

SymbolUniProtpLDDT
WNT10AQ9GZT582.36

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 2. Enrichment computed across 1 evidence-associated genes (1 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

PathwayCohort genesFoldFDRSample cohort genes
WNT ligand biogenesis and trafficking1423.0×0.005WNT10A
Class B/2 (Secretin family receptors)1190.3×0.005WNT10A

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO termCohort genesFoldFDRSample cohort genes
epidermis morphogenesis12808.7×0.002WNT10A
regulation of odontogenesis of dentin-containing tooth12407.4×0.002WNT10A
tongue development12106.5×0.002WNT10A
sebaceous gland development12106.5×0.002WNT10A
neural crest cell differentiation11532.0×0.002WNT10A
odontogenesis1526.6×0.004WNT10A
hair follicle morphogenesis1495.6×0.004WNT10A
skin development1443.5×0.004WNT10A
hair follicle development1383.0×0.004WNT10A
cell fate commitment1295.6×0.005WNT10A
cellular response to transforming growth factor beta stimulus1276.3×0.005WNT10A
canonical Wnt signaling pathway1153.2×0.008WNT10A
neuron differentiation1100.3×0.011WNT10A
positive regulation of gene expression138.7×0.026WNT10A

Therapeutics

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 1

Druggability breadth: 0 of 1 evidence-associated genes (0%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

SymbolMoleculesMax phase
WNT10A00

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Pharmacogenomics

Cohort genes with a PharmGKB record: 1; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

0 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

TierDefinitionGenesSymbols
AApproved (phase 4 drug)0
BPhased (≥1) drug, not yet approved0
CDruggable family + PDB, no drug0
DDruggable family + AlphaFold only, no drug0
EDifficult family or no structure, no drug1WNT10A

Undrugged target profiles

1 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

SymbolChEMBL assaysDrugged partners (top 3)
WNT10A0

Clinical trials & evidence

Clinical trials

Clinical trials: 0.