SSPS
MCID: SCH038
MIFTS: 55

Schopf-Schulz-Passarge Syndrome (SSPS)

Categories: Cancer diseases, 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 56 12 58 73 36 29 13 6 43 15 39 71
Ssps 56 12 58 73
Palmoplantar Hyperkeratosis-Cystic Eyelids-Hypodontia-Hypotrichosis Syndrome 12 58
Keratosis Palmoplantaris-Cystic Eyelids-Hypodontia-Hypotrichosis Syndrome 12 58
Palmoplantar Keratoderma-Cystic Eyelids-Hypodontia-Hypotrichosis Syndrome 12 58
Eccrine Tumors with Ectodermal Dysplasia 56 73
Eccrine Tumors-Ectodermal Dysplasia 12 58
Keratosis Palmoplantaris with Cystic Eyelids, Hypodontia, and Hypotrichosis 56
Keratosis Palmoplantaris with Cystic Eyelids, Hypodontia and Hypotrichosis 73

Characteristics:

Orphanet epidemiological data:

58
schopf-schulz-passarge syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

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


Classifications:

Orphanet: 58  
Rare skin diseases
Developmental anomalies during embryogenesis
Rare odontological diseases


External Ids:

Disease Ontology 12 DOID:0111647
OMIM 56 224750
KEGG 36 H00781
SNOMED-CT 67 700062000
ICD10 via Orphanet 33 Q82.8
UMLS via Orphanet 72 C1857069
Orphanet 58 ORPHA50944
MedGen 41 C1857069
UMLS 71 C1857069

Summaries for Schopf-Schulz-Passarge Syndrome

UniProtKB/Swiss-Prot : 73 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 hypotrichosis and ectodermal dysplasia. An important gene associated with Schopf-Schulz-Passarge Syndrome is WNT10A (Wnt Family Member 10A). The drugs Bupivacaine and Daptomycin have been mentioned in the context of this disorder. Affiliated tissues include skin, colon and testes, and related phenotypes are palmoplantar keratoderma and ectodermal dysplasia

Disease Ontology : 12 An ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy that has material basis in homozygous or compound heterozygous mutation in WNT10A on chromosome 2q35.

OMIM : 56 Schopf-Schulz-Passarge syndrome (SSPS) is an autosomal recessive disorder characterized by a constellation of multiple eyelid cysts, hypodontia, hypotrichosis, palmoplantar hyperkeratosis, and onychodystrophy (summary by Mallaiah and Dickinson, 2001). (224750)

KEGG : 36 Schopf-Schulz-Passarge syndrome is a rare ectodermal dysplasia resulted from mutations in the WNT10A. The combination of multiple eyelid apocrine hidrocystomas, hypodontia, palmoplantar keratoderma, hypotrichosis and nail dystrophy characterize the disease.

Wikipedia : 74 Schöpf-Schulz-Passarge syndrome is an autosomal recessive condition with punctate symmetric palmoplantar... more...

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 254)
# Related Disease Score Top Affiliating Genes
1 hypotrichosis 31.1 WNT10A EDARADD EDAR
2 ectodermal dysplasia 10.8
3 palmoplantar keratosis 10.8
4 ichthyosis 10.7
5 hidrocystoma 10.7
6 erythrokeratoderma ''en cocardes'' 10.7
7 fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly 10.3 WNT10A EDARADD
8 diarrhea 10.3
9 syphilis 10.3
10 celiac disease 1 10.3
11 ectodermal dysplasia 10b 10.3 EDARADD EDAR
12 ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant 10.2 EDARADD EDAR
13 pompholyx 10.2 EDARADD EDAR
14 endocarditis 10.2
15 tularemia 10.2
16 ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive 10.2 EDARADD EDAR
17 focal dermal hypoplasia 10.2 WNT10A ALB
18 gastroenteritis 10.2
19 crohn's disease 10.2
20 anodontia 10.2 WNT10A EDARADD EDAR
21 triiodothyronine receptor auxiliary protein 10.1
22 salmonellosis 10.1
23 mastitis 10.1
24 ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant 10.1 EDARADD EDAR
25 hypohidrotic ectodermal dysplasia autosomal recessive 10.1 WNT10A EDARADD EDAR
26 clouston syndrome 10.1 EDARADD EDAR
27 yaws 10.1
28 rapidly involuting congenital hemangioma 10.1
29 gastrointestinal ulceration, recurrent, with dysfunctional platelets 10.1
30 colitis 10.1
31 pleuropneumonia 10.1
32 psoriasis 10.1
33 47,xyy 10.1
34 48,xyyy 10.1
35 maple syrup urine disease 10.0 GLUD1 BCKDHA ALB
36 ectodermal dysplasia 1, hypohidrotic, x-linked 10.0 EDARADD EDAR ALB
37 colorectal cancer 10.0
38 platelet groups--ko system 10.0
39 helix syndrome 10.0
40 pasteurellosis 10.0
41 hemosiderosis 10.0
42 acute cystitis 10.0
43 thrombocytopenia 10.0
44 constipation 10.0
45 pustulosis of palm and sole 10.0
46 liver cirrhosis 10.0
47 glioma 10.0
48 glial tumor 10.0
49 rare hereditary hemochromatosis 10.0
50 phenylketonuria 10.0 R3HCC1L BCKDHA ALB

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

Human phenotypes related to Schopf-Schulz-Passarge Syndrome:

58 31 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 palmoplantar keratoderma 58 31 hallmark (90%) Very frequent (99-80%) HP:0000982
2 ectodermal dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000968
3 facial telangiectasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0007380
4 sparse hair 31 hallmark (90%) HP:0008070
5 alopecia 58 31 frequent (33%) Frequent (79-30%) HP:0001596
6 hypodontia 58 31 frequent (33%) Frequent (79-30%) HP:0000668
7 aplasia/hypoplasia of the eyebrow 58 31 frequent (33%) Frequent (79-30%) HP:0100840
8 premature loss of primary teeth 58 31 frequent (33%) Frequent (79-30%) HP:0006323
9 ovarian neoplasm 58 31 occasional (7.5%) Occasional (29-5%) HP:0100615
10 basal cell carcinoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002671
11 squamous cell carcinoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002860
12 bird-like facies 58 31 occasional (7.5%) Occasional (29-5%) HP:0000320
13 hypotrichosis 58 Very frequent (99-80%)
14 abnormality of the eye 31 HP:0000478
15 ridged nail 31 HP:0001807
16 thin nail 31 HP:0001816
17 small nail 31 HP:0001792
18 onycholysis 31 HP:0001806
19 narrow nail 31 HP:0011313
20 poroma 31 HP:0031405
21 apocrine hidrocystoma 31 HP:0031454

Symptoms via clinical synopsis from OMIM:

56
Skin Nails Hair Skin:
palmoplantar keratoderma
eyelid margin cysts (apocrine hidrocystoma)
eccrine poroma

Neoplasia:
basal cell carcinoma
squamous cell carcinoma

Head And Neck Face:
bird-like facies

Skin Nails Hair Hair:
hypotrichosis (scalp)

Head And Neck Teeth:
hypodontia

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

Head And Neck Eyes:
eyelid margin cysts (hidrocystoma)

Clinical features from OMIM:

224750

MGI Mouse Phenotypes related to Schopf-Schulz-Passarge Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.23 AANAT ALB BCKDHA EDAR EDARADD GLUD1

Drugs & Therapeutics for Schopf-Schulz-Passarge Syndrome

Drugs for Schopf-Schulz-Passarge Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 49)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bupivacaine Approved, Investigational Phase 3 2180-92-9, 38396-39-3 2474
2
Daptomycin Approved, Investigational Phase 3 103060-53-3 16129629
3
Vancomycin Approved Phase 3 1404-90-6 14969 441141
4
Cloxacillin Approved, Investigational, Vet_approved Phase 3 61-72-3 6098
5
Oxacillin Approved, Investigational Phase 3 66-79-5 6196
6
Rilpivirine Approved Phase 3 500287-72-9
7 Anesthetics Phase 3
8 Anesthetics, Local Phase 3
9 Floxacillin Phase 3
10 Anti-Bacterial Agents Phase 3
11 penicillins Phase 3
12 Anti-Infective Agents Phase 3
13
Lidocaine Approved, Vet_approved Phase 1 137-58-6 3676
14
Epinephrine Approved, Vet_approved Phase 1 51-43-4 5816
15
Racepinephrine Approved Phase 1 329-65-7 838
16 Adrenergic alpha-Agonists Phase 1
17 Adrenergic beta-Agonists Phase 1
18 Respiratory System Agents Phase 1
19 Sodium Channel Blockers Phase 1
20 Adrenergic Agents Phase 1
21 Chelating Agents Phase 1
22 Anti-Arrhythmia Agents Phase 1
23 Epinephryl borate Phase 1
24 Gadolinium 1,4,7,10-tetraazacyclododecane-N,N',N'',N'''-tetraacetate Phase 1
25 Vasoconstrictor Agents Phase 1
26 Adrenergic Agonists Phase 1
27 Diuretics, Potassium Sparing Phase 1
28 Anti-Asthmatic Agents Phase 1
29 Bronchodilator Agents Phase 1
30 Sympathomimetics Phase 1
31 Neurotransmitter Agents Phase 1
32 Mydriatics Phase 1
33
Acyclovir Approved 59277-89-3 2022
34
Amphotericin B Approved, Investigational 1397-89-3 5280965 14956
35
Ganciclovir Approved, Investigational 82410-32-0 3454
36
Fluconazole Approved, Investigational 86386-73-4 3365
37
Tobramycin Approved, Investigational 32986-56-4 36294 5496
38
Levofloxacin Approved, Investigational 100986-85-4 149096
39
Ofloxacin Approved 82419-36-1 4583
40
Montelukast Approved 158966-92-8 5281040
41
Naloxone Approved, Vet_approved 465-65-6 5284596
42 Liposomal amphotericin B
43 Pulmonary Surfactants
44 Ganciclovir triphosphate
45 Ophthalmic Solutions
46 Leukotriene Antagonists
47 Analgesics, Opioid
48 Pharmaceutical Solutions
49 Cola

Interventional clinical trials:

(show all 17)
# Name Status NCT ID Phase Drugs
1 Laparoscopic-assisted Transversus Abdominis Plane (TAP) Block for Laparoscopic Total Extra Peritoneal (TEP) Inguinal Hernia Repair: a Prospective, Double-blinded, Randomized, Clinical Trial Unknown status NCT02632136 Phase 3 TAP Block Group;Peri-Portal Block Group
2 An Open Label, Multi-center, Randomized, Comparative Phase IIIb Study to Compare Efficacy and Safety of Intravenous (i.v.) Daptomycin With That of Semi-Synthetic Penicillins (SSPs) or Vancomycin in the Treatment of Elderly Patients (Aged ≥ 65 Years) With Complicated Skin and Soft Tissue Infections (cSSTI) Completed NCT01184872 Phase 3 Daptomycin;Vancomycin or Semi-Synthetic Penicillins (SSPs)
3 A Phase IIIb, Open-label, Hybrid Type III Trial Evaluating Implementation Strategies for Long-acting Cabotegravir Plus Long-acting Rilpivirine Every Two Months in HIV-1 Infected, Virologically Suppressed Adults in Select European Healthcare Settings Not yet recruiting NCT04399551 Phase 3 CAB OLI;CAB LA;RPV OLI;RPV LA
4 Suprasacral Parallel Shift - Ultrasound/MR Image Fusion Guided Lumbosacral Plexus Block Completed NCT02593370 Phase 1 Lidocaine-epinephrine added gadoterate meglumine
5 The Supra Sacral Parallel Shift (SSPS) - Ultrasound Guided Blockade of the Lumbar Plexus Completed NCT01669018
6 Consecutive, Case Control Study of Association Between Single Nucleotide Polymorphism of SP-D and Susceptibility and Prognosis of Infectious Keratitis Completed NCT04213313 Treatment of bacterial keratitis;Treatment of fungal keratitis;Treatment of viral keratitis
7 Effectiveness of a Personalized Endoscopic Surveillance Protocol for Patients With Serrated Polyposis Syndrome Completed NCT03450889
8 Do Soft Skills Predict Surgical Performance? Do Soft Skills Predict Surgical Performance? A Prospective Randomized Controlled Single Center Educational Trial Evaluating Predictors of Skill Acquisition in Virtual Reality Laparoscopy Completed NCT01137305
9 The Relationship Between the Tympanostomy Tube Extrusion Time & Viscosity Completed NCT03848026
10 Psoas Sciatic Blockade Could be a Sole Anaesthetic Technique for Total Knee Arthroplasty Completed NCT03088371 Bupivacaine 0.25%;Lidocaine 1%;Bupivacaine 0.5%;Lidocaine 2 %;Bupivacaine 0.125 %
11 Montelukast in the Treatment of Duodenal Eosinophilia in Children With Dyspepsia: Effect on Eosinophil Density and Activation in Relation to Pharmacokinetics Completed NCT00148603 montelukast
12 Preventing Opioid Overdose Mortality in the United States Recruiting NCT03924505
13 Cold Snare Polypectomy Versus Endoscopic Mucosal Resection for Colonic Sessile Serrated Polyps - A Randomised Controlled Trial Recruiting NCT02967107
14 Evaluation of Stool and Blood Based Tests for Colorectal Advanced Mucosal Neoplasia Recruiting NCT02476682
15 Influence of WNT4 VEZT FSHB and SIRT1 Genetic Polymorphisms in the Pathogenesis of Endometriosis: a Case Control Study of the Sardinian Population Recruiting NCT02388854
16 Cost-effectiveness Evaluation of Vector Control Strategies in Mozambique Active, not recruiting NCT02910934
17 CRH Responsiveness in Children With Functional Dyspepsia: A Pilot Study Withdrawn NCT01373372 Acthrel

Search NIH Clinical Center for Schopf-Schulz-Passarge Syndrome

Cochrane evidence based reviews: 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:

40
Skin, Colon, Testes, Breast, Eye, Liver, Bone

Publications for Schopf-Schulz-Passarge Syndrome

Articles related to Schopf-Schulz-Passarge Syndrome:

(show top 50) (show all 634)
# Title Authors PMID Year
1
WNT10A mutations are a frequent cause of a broad spectrum of ectodermal dysplasias with sex-biased manifestation pattern in heterozygotes. 56 6
19559398 2009
2
Schöpf-Schulz-Passarge syndrome with an unusual pattern of inheritance. 56 61
9217219 1997
3
Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia. 6
23401279 2013
4
Mutations in WNT10A are present in more than half of isolated hypodontia cases. 6
22581971 2012
5
Photo essay: bilateral multiple eyelid apocrine hidrocystomas and ectodermal dysplasia. 56
11735807 2001
6
Linkage of an American pedigree with palmoplantar keratoderma and malignancy (palmoplantar ectodermal dysplasia type III) to 17q24. Literature survey and proposed updated classification of the keratodermas. 56
8651714 1996
7
[Schöpf syndrome. Clinical, genetic and lipid biochemical studies]. 56
1473970 1992
8
Schöpf-Schulz-Passarge syndrome. 56
1637691 1992
9
Familial occurrence of eccrine tumours in a family with ectodermal dysplasia. 56
2467492 1988
10
Apocrine hidrocystomas of the lids, hypodontia, palmar-plantar hyperkeratosis, and onychodystrophy. A new variant of ectodermal dysplasia. 56
2947556 1986
11
Eyelid cysts, hypodontia, and hypotrichosis. 56
6725680 1984
12
The soy protein isolate-Octacosanol-polysaccharides nanocomplex for enhanced physical stability in neutral conditions: Fabrication, characterization, thermal stability. 61
32283365 2020
13
When is an abscess more than an abscess? Syringe services programs and the harm reduction safety-net: a case report. 61
32487084 2020
14
Satellite-based data driven quantification of pluvial floods over Europe under future climatic and socioeconomic changes. 61
32172108 2020
15
Baseline prevalence and correlates of HIV and HCV infection among people who inject drugs accessing a syringe services program; Miami, FL. 61
32522201 2020
16
Self-assessed life expectancy among older adults in Côte d'Ivoire. 61
32539697 2020
17
Hospital admissions among people who inject opioids following syringe services program implementation. 61
32398059 2020
18
Projected land-use changes in the Shared Socioeconomic Pathways: Insights and implications. 61
32378037 2020
19
Traditional serrated adenomas (TSA) and the company they keep: TSA presence predicts advanced neoplasm states. 61
32358718 2020
20
Particle-based artificial three-dimensional stem cell spheroids for revascularization of ischemic diseases. 61
32494716 2020
21
MtSSPdb: The Medicago truncatula Small Secreted Peptide Database. 61
32079733 2020
22
Soluble soybean polysaccharide/nano zinc oxide antimicrobial nanocomposite films reinforced with microfibrillated cellulose. 61
32422257 2020
23
Metasurface-Enabled Generation of Circularly Polarized Single Photons. 61
32115783 2020
24
Ameliorate effects of soybean soluble polysaccharide on adenine-induced chronic renal failure in mice. 61
31931056 2020
25
Exceptional colloidal stability of acidified whey protein beverages stabilized by soybean soluble polysaccharide. 61
32198761 2020
26
Syringe services programs and real-world research: An overview for pharmacists. 61
32278515 2020
27
Conservation and expansion of a necrosis-inducing small secreted protein family from host-variable phytopathogens of the Sclerotiniaceae. 61
32061186 2020
28
Expansion of Syringe Service Programs in the United States, 2015-2018. 61
32078343 2020
29
Increased risk of metachronous large serrated polyps in individuals with 5 to 9 mm proximal hyperplastic polyps: data from the New Hampshire Colonoscopy Registry. 61
32348745 2020
30
Examining risk behavior and syringe coverage among people who inject drugs accessing a syringe services program: A latent class analysis. 61
32146348 2020
31
Pediatric cervical spine injuries on CT: difference in accuracy of interpretations by pediatric versus non-pediatric radiologists. 61
31820269 2020
32
Trends Over Time and Jurisdiction Variability in Supplemental Security Income and State Supplementary Payment Programs for Children With Disabilities. 61
32004222 2020
33
Provincial and gridded population projection for China under shared socioeconomic pathways from 2010 to 2100. 61
32152299 2020
34
The relationship between adverse childhood experiences and self-sufficiency problems in early adulthood among violent offenders. 61
31926457 2020
35
Symbiotic Outcome Modified by the Diversification from 7 to over 700 Nodule-Specific Cysteine-Rich Peptides. 61
32218172 2020
36
Estudio de la deformación miocárdica longitudinal en pacientes con cardiopatía isquémica. 61
32179879 2020
37
Implementation of Syringe Services Programs to Prevent Rapid Human Immunodeficiency Virus Transmission in Rural Counties in the United States: A Modeling Study. 61
31143944 2020
38
Performance of gene expression-based single sample predictors for assessment of clinicopathological subgroups and molecular subtypes in cancers: a case comparison study in non-small cell lung cancer. 61
30721923 2020
39
Discovery of the Gene Encoding a Novel Small Serum Protein (SSP) of Protobothrops flavoviridis and the Evolution of SSPs. 61
32178380 2020
40
Prevalence and Clinical Features of Sessile Serrated Polyps: A Systematic Review. 61
32199884 2020
41
Motivation to Change and Treatment Participation Among Syringe Service Program Utilizers in Rural Kentucky. 61
31415716 2020
42
Identification of endogenous small peptides involved in rice immunity through transcriptomics- and proteomics-based screening. 61
31301098 2020
43
Schopf-Schulz-Passarge syndrome: a rare ectodermal dysplasia with a delayed diagnosis. 61
31468502 2020
44
Finger pulp reconstruction with thenar flap: Aesthetic and functional outcome. 61
32178999 2020
45
Adherence to the Malaysian clinical practice guideline for depression by general practitioners in private practice in Penang. 61
31901584 2020
46
Comparative Study of Holmium Laser Enucleation of the Prostate With MOSES Enabled Pulsed Laser Modulation. 61
31790785 2020
47
Projecting terrestrial biodiversity intactness with GLOBIO 4. 61
31680366 2020
48
Syringe access and health harms: Characterizing "landscapes of antagonism" in California's Central Valley. 61
31775079 2020
49
Interest in linkage to PrEP among people who inject drugs accessing syringe services; Miami, Florida. 61
32298320 2020
50
Global projections of future urban land expansion under shared socioeconomic pathways. 61
31988288 2020

Variations for Schopf-Schulz-Passarge Syndrome

ClinVar genetic disease variations for Schopf-Schulz-Passarge Syndrome:

6 (show top 50) (show all 74) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 WNT10A NM_025216.3(WNT10A):c.321C>A (p.Cys107Ter)SNV Pathogenic 4461 rs121908119 2:219747090-219747090 2:218882368-218882368
2 WNT10A NM_025216.3(WNT10A):c.382C>T (p.Arg128Ter)SNV Pathogenic/Likely pathogenic 464181 rs762739726 2:219754711-219754711 2:218889989-218889989
3 WNT10A NM_025216.3(WNT10A):c.616C>T (p.Gln206Ter)SNV Likely pathogenic 417898 rs1060499588 2:219754945-219754945 2:218890223-218890223
4 WNT10A NM_025216.3(WNT10A):c.149C>T (p.Pro50Leu)SNV Conflicting interpretations of pathogenicity 334393 rs199980023 2:219746918-219746918 2:218882196-218882196
5 WNT10A NM_025216.3(WNT10A):c.637G>A (p.Gly213Ser)SNV Conflicting interpretations of pathogenicity 139576 rs147680216 2:219754966-219754966 2:218890244-218890244
6 WNT10A NM_025216.3(WNT10A):c.487C>T (p.Arg163Trp)SNV Conflicting interpretations of pathogenicity 189351 rs368280129 2:219754816-219754816 2:218890094-218890094
7 WNT10A NM_025216.3(WNT10A):c.511C>T (p.Arg171Cys)SNV Conflicting interpretations of pathogenicity 225515 rs116998555 2:219754840-219754840 2:218890118-218890118
8 WNT10A NM_025216.3(WNT10A):c.493G>A (p.Gly165Arg)SNV Conflicting interpretations of pathogenicity 334399 rs77583146 2:219754822-219754822 2:218890100-218890100
9 WNT10A NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile)SNV Conflicting interpretations of pathogenicity 4462 rs121908120 2:219755011-219755011 2:218890289-218890289
10 WNT10A NM_025216.3(WNT10A):c.697G>A (p.Glu233Lys)SNV Conflicting interpretations of pathogenicity 896390 2:219755026-219755026 2:218890304-218890304
11 WNT10A NM_025216.3(WNT10A):c.1017C>T (p.Phe339=)SNV Conflicting interpretations of pathogenicity 334411 rs531326479 2:219757756-219757756 2:218893034-218893034
12 WNT10A NM_025216.3(WNT10A):c.1087A>C (p.Asn363His)SNV Conflicting interpretations of pathogenicity 334414 rs34972707 2:219757826-219757826 2:218893104-218893104
13 WNT10A NM_025216.3(WNT10A):c.1134C>T (p.Gly378=)SNV Uncertain significance 334415 rs886055644 2:219757873-219757873 2:218893151-218893151
14 WNT10A NM_025216.3(WNT10A):c.841C>G (p.Pro281Ala)SNV Uncertain significance 334408 rs541715493 2:219757580-219757580 2:218892858-218892858
15 WNT10A NM_025216.3(WNT10A):c.*108G>ASNV Uncertain significance 334417 rs190527122 2:219758101-219758101 2:218893379-218893379
16 WNT10A NM_025216.3(WNT10A):c.437C>G (p.Ser146Cys)SNV Uncertain significance 334398 rs759718991 2:219754766-219754766 2:218890044-218890044
17 WNT10A NM_025216.3(WNT10A):c.551G>A (p.Arg184His)SNV Uncertain significance 334401 rs372756514 2:219754880-219754880 2:218890158-218890158
18 WNT10A NM_025216.3(WNT10A):c.838A>T (p.Thr280Ser)SNV Uncertain significance 334406 rs886055643 2:219757577-219757577 2:218892855-218892855
19 WNT10A NM_025216.3(WNT10A):c.841C>A (p.Pro281Thr)SNV Uncertain significance 334407 rs541715493 2:219757580-219757580 2:218892858-218892858
20 WNT10A NM_025216.3(WNT10A):c.1061C>T (p.Ser354Leu)SNV Uncertain significance 334413 rs781178898 2:219757800-219757800 2:218893078-218893078
21 WNT10A NM_025216.3(WNT10A):c.1049C>T (p.Pro350Leu)SNV Uncertain significance 334412 rs564146190 2:219757788-219757788 2:218893066-218893066
22 WNT10A NM_025216.3(WNT10A):c.*115C>TSNV Uncertain significance 334418 rs886055646 2:219758108-219758108 2:218893386-218893386
23 WNT10A NM_025216.2(WNT10A):c.-149G>TSNV Uncertain significance 334391 rs886055641 2:219745569-219745569 2:218880847-218880847
24 WNT10A NM_025216.3(WNT10A):c.*441C>TSNV Uncertain significance 334423 rs886055647 2:219758434-219758434 2:218893712-218893712
25 WNT10A NM_025216.2(WNT10A):c.-370C>ASNV Uncertain significance 334380 rs886055634 2:219745348-219745348 2:218880626-218880626
26 WNT10A NM_025216.2(WNT10A):c.-358G>ASNV Uncertain significance 334381 rs886055635 2:219745360-219745360 2:218880638-218880638
27 WNT10A NM_025216.2(WNT10A):c.-270G>CSNV Uncertain significance 334385 rs774035749 2:219745448-219745448 2:218880726-218880726
28 WNT10A NM_025216.2(WNT10A):c.-202G>CSNV Uncertain significance 334388 rs886055638 2:219745516-219745516 2:218880794-218880794
29 WNT10A NM_025216.2(WNT10A):c.-194dupCduplication Uncertain significance 334389 rs886055639 2:219745516-219745517 2:218880794-218880795
30 WNT10A NM_025216.2(WNT10A):c.-153G>ASNV Uncertain significance 334390 rs886055640 2:219745565-219745565 2:218880843-218880843
31 WNT10A NM_025216.3(WNT10A):c.719C>T (p.Ala240Val)SNV Uncertain significance 898019 2:219755048-219755048 2:218890326-218890326
32 WNT10A NM_025216.3(WNT10A):c.1035C>A (p.Phe345Leu)SNV Uncertain significance 896458 2:219757774-219757774 2:218893052-218893052
33 WNT10A NM_025216.3(WNT10A):c.*139C>GSNV Uncertain significance 896531 2:219758132-219758132 2:218893410-218893410
34 WNT10A NM_025216.3(WNT10A):c.*238C>TSNV Uncertain significance 898152 2:219758231-219758231 2:218893509-218893509
35 WNT10A NM_025216.3(WNT10A):c.*339C>TSNV Uncertain significance 898153 2:219758332-219758332 2:218893610-218893610
36 WNT10A NM_025216.3(WNT10A):c.377-11T>CSNV Uncertain significance 897867 2:219754695-219754695 2:218889973-218889973
37 WNT10A NM_025216.3(WNT10A):c.-123C>ASNV Uncertain significance 897794 2:219745595-219745595 2:218880873-218880873
38 WNT10A NM_025216.3(WNT10A):c.-70G>CSNV Uncertain significance 898940 2:219745648-219745648 2:218880926-218880926
39 WNT10A NM_025216.3(WNT10A):c.166A>G (p.Asn56Asp)SNV Uncertain significance 894811 2:219746935-219746935 2:218882213-218882213
40 WNT10A NM_025216.3(WNT10A):c.364A>T (p.Ile122Phe)SNV Uncertain significance 897866 2:219747133-219747133 2:218882411-218882411
41 WNT10A NM_025216.3(WNT10A):c.443C>T (p.Ala148Val)SNV Uncertain significance 899013 2:219754772-219754772 2:218890050-218890050
42 WNT10A NM_025216.3(WNT10A):c.483G>C (p.Ala161=)SNV Uncertain significance 894882 2:219754812-219754812 2:218890090-218890090
43 WNT10A NM_025216.3(WNT10A):c.526C>T (p.Arg176Cys)SNV Uncertain significance 896321 2:219754855-219754855 2:218890133-218890133
44 WNT10A NM_025216.3(WNT10A):c.653T>G (p.Met218Arg)SNV Uncertain significance 894952 2:219754982-219754982 2:218890260-218890260
45 WNT10A NM_025216.3(WNT10A):c.664G>A (p.Glu222Lys)SNV Uncertain significance 894953 2:219754993-219754993 2:218890271-218890271
46 WNT10A NM_025216.3(WNT10A):c.668G>A (p.Arg223His)SNV Uncertain significance 894954 2:219754997-219754997 2:218890275-218890275
47 WNT10A NM_025216.3(WNT10A):c.694C>T (p.Arg232Trp)SNV Uncertain significance 896389 2:219755023-219755023 2:218890301-218890301
48 WNT10A NM_025216.3(WNT10A):c.652A>G (p.Met218Val)SNV Uncertain significance 334402 rs373991357 2:219754981-219754981 2:218890259-218890259
49 WNT10A NM_025216.3(WNT10A):c.756+13C>ASNV Uncertain significance 334403 rs745958462 2:219755098-219755098 2:218890376-218890376
50 WNT10A NM_025216.3(WNT10A):c.756+14C>TSNV Uncertain significance 334404 rs200733269 2:219755099-219755099 2:218890377-218890377

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

73
# Symbol AA change Variation ID SNP ID
1 WNT10A p.Ala131Thr VAR_077447 rs372993798
2 WNT10A p.Gly266Cys VAR_077451

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

Cellular components related to Schopf-Schulz-Passarge Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 exon-exon junction complex GO:0035145 8.62 R3HCC1L EIF4A3

Biological processes related to Schopf-Schulz-Passarge Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 rRNA processing GO:0006364 9.13 SENP3 EMG1 EIF4A3
2 protein desumoylation GO:0016926 8.8 SENP7 SENP6 SENP3

Molecular functions related to Schopf-Schulz-Passarge Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cysteine-type peptidase activity GO:0008234 9.33 SENP7 SENP6 SENP3
2 SUMO-specific protease activity GO:0016929 8.96 SENP6 SENP3
3 SUMO-specific endopeptidase activity GO:0070139 8.62 SENP7 SENP6

Sources for Schopf-Schulz-Passarge Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....