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SSPS
MCID: SCH038
MIFTS: 51

Schopf-Schulz-Passarge Syndrome (SSPS)

Categories: Cancer diseases, Eye diseases, Fetal diseases, Genetic diseases, Oral diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs
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Aliases & Classifications for Schopf-Schulz-Passarge Syndrome

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MalaCards integrated aliases for Schopf-Schulz-Passarge Syndrome:

Name: Schopf-Schulz-Passarge Syndrome 57 12 58 73 36 29 13 6 44 15 39 71
Ssps 57 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 57 73
Eccrine Tumors-Ectodermal Dysplasia 12 58
Keratosis Palmoplantaris with Cystic Eyelids, Hypodontia, and Hypotrichosis 57
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®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive


HPO:

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


Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Cancer diseases
Anatomical: Skin diseases Oral diseases Eye diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare skin diseases
Developmental anomalies during embryogenesis
Rare odontological diseases


External Ids:

Disease Ontology 12 DOID:0111647
OMIM® 57 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
Sources

Summaries for Schopf-Schulz-Passarge Syndrome

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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 Daptomycin and Oxacillin have been mentioned in the context of this disorder. Affiliated tissues include liver, breast and skin, 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® : 57 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) (Updated 05-Mar-2021)

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...

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Related Diseases for Schopf-Schulz-Passarge Syndrome

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Diseases related to Schopf-Schulz-Passarge Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 22)
# Related Disease Score Top Affiliating Genes
1 hypotrichosis 30.9 WNT10A EDARADD EDAR
2 ectodermal dysplasia 10.5
3 palmoplantar keratosis 10.5
4 ichthyosis 10.4
5 hidrocystoma 10.4
6 erythrokeratoderma ''en cocardes'' 10.4
7 fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly 10.3 WNT10A EDARADD
8 ectodermal dysplasia 10b 10.3 EDARADD EDAR
9 ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant 10.2 EDARADD EDAR
10 ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive 10.2 EDARADD EDAR
11 focal dermal hypoplasia 10.2 WNT10A ALB
12 ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant 10.2 EDARADD EDAR
13 anodontia 10.2 WNT10A EDARADD EDAR
14 hypohidrotic ectodermal dysplasia autosomal recessive 10.2 WNT10A EDARADD EDAR
15 red cell aplasia 10.1 HLA-A ALB
16 chronic pyelonephritis 10.1 HLA-A ALB
17 ectodermal dysplasia 1, hypohidrotic, x-linked 10.1 WNT10A EDARADD EDAR ALB
18 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 10.0 WNT10A EDARADD EDAR ALB
19 pure red-cell aplasia 10.0 HLA-A ALB
20 leukemia, chronic lymphocytic 10.0
21 danubian endemic familial nephropathy 10.0 HLA-A ALB
22 sweat gland disease 9.9 EDARADD EDAR

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



Diseases related to Schopf-Schulz-Passarge Syndrome
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Symptoms & Phenotypes for Schopf-Schulz-Passarge Syndrome

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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®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

Sources

Drugs & Therapeutics for Schopf-Schulz-Passarge Syndrome

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

(show top 50) (show all 62)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Daptomycin Approved, Investigational Phase 3 103060-53-3 16129629
2
Oxacillin Approved, Investigational Phase 3 66-79-5 6196
3
Vancomycin Approved Phase 3 1404-90-6 441141 14969
4
Cloxacillin Approved, Investigational, Vet_approved Phase 3 61-72-3 6098
5 Anti-Infective Agents Phase 3
6 penicillins Phase 3
7 Floxacillin Phase 3
8 Anti-Bacterial Agents Phase 3
9
Vitamin C Approved, Nutraceutical Phase 2 50-81-7 5785 54670067
10 Vaccines Phase 1, Phase 2
11 Sulfalene Phase 2
12 Soy Bean Phase 2
13
Omeprazole Approved, Investigational, Vet_approved Phase 1 73590-58-6 4594
14
Thrombin Approved, Investigational Phase 1
15
Midazolam Approved, Illicit Phase 1 59467-70-8 4192
16
Simvastatin Approved Phase 1 79902-63-9 54454
17 Anti-Ulcer Agents Phase 1
18 Antacids Phase 1
19 Proton Pump Inhibitors Phase 1
20 Gastrointestinal Agents Phase 1
21
Bilirubin Phase 1 635-65-4 5280352
22 Anesthetics Phase 1
23 Hypnotics and Sedatives Phase 1
24 Neurotransmitter Agents Phase 1
25 GABA Modulators Phase 1
26 Psychotropic Drugs Phase 1
27 Anesthetics, Intravenous Phase 1
28 Anti-Anxiety Agents Phase 1
29 Anesthetics, General Phase 1
30 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 1
31 Lipid Regulating Agents Phase 1
32 Hypolipidemic Agents Phase 1
33 Antimetabolites Phase 1
34 Anticholesteremic Agents Phase 1
35 Strawberry Approved
36 Sugarcane Approved
37
Fluconazole Approved, Investigational 86386-73-4 3365
38
Acyclovir Approved 59277-89-3 2022
39
Ofloxacin Approved 82419-36-1 4583
40
Tobramycin Approved, Investigational 32986-56-4 5496 36294
41
Ganciclovir Approved, Investigational 82410-32-0 3454
42
Amphotericin B Approved, Investigational 1397-89-3 14956 5280965
43
Levofloxacin Approved, Investigational 100986-85-4 149096
44
Naloxone Approved, Vet_approved 465-65-6 5284596
45 Anti-Retroviral Agents
46 Respiratory System Agents
47 Protective Agents
48 Antioxidants
49 Liposomal amphotericin B
50 Ophthalmic Solutions

Interventional clinical trials:

(show all 47)
# Name Status NCT ID Phase Drugs
1 The Effect of Probiotics on Asthma Risk in Animal Laboratory Workers: A Randomized Controlled Trial. Unknown status NCT03021161 Phase 4 Probiotic Formula
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 Effects of Yogurt Containing Bifidobacterium Animalis Ssp. Lactis dn- 1173010 Probiotics in the Composition of Biofilms and Saliva of Orthodontic Patients: a Crossover, Double-blind, Randomized and Placebo Controlled Clinical Trial. Completed NCT01657539 Phase 2, Phase 3
4 Evaluation of IMVAMUNE® Smallpox Vaccine With Respect to Safety and Optimization of Immune Responses by Different Vaccination Regimens in Vaccinia-Naïve Adults Completed NCT00437021 Phase 1, Phase 2 Placebo (subcutaneous);Placebo (scarification)
5 Randomized Controlled Trial of Probaclac Versus Placebo in Children Aged 8 to 18 Years With Irritable Bowel Syndrome Terminated NCT00793494 Phase 2
6 A Phase 2, Open Label, Multi-Center, Single-Dose Pharmacokinetics, and Multiple Dose Study of the Safety, Efficacy and Tolerability of SSP-004184 (SPD602) in a Pediatric Population With Transfusional Iron Overload Terminated NCT01363908 Phase 2 SPD602
7 A Phase 2, Open-label, Multicentre, Extension Safety and Tolerability Study for Transfusionally Iron Overloaded Children, Adolescents and Adults Using SSP-004184 (SPD602) Terminated NCT01671111 Phase 2 SSP-004184AQ
8 A Phase 2, 24 Week, Open Label, Multi-Center Study to Assess the Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of SSP-004184 (SPD602) in the Treatment of Chronic Iron Overload Requiring Chelation Therapy Terminated NCT01604941 Phase 2 SPD602
9 A 48-week, Open-label, 2-arm, Parallel-group, Randomized Exploratory Study to Assess Liver Iron Concentration Measured by FerriScan® (R2) Magnetic Resonance Imaging in B-thalassemia Subjects Administered SPD602 (SSP-004184AQ) or Exjade® (Deferasirox) for Treatment of Chronic Transfusional Iron Overload Withdrawn NCT01927913 Phase 2 SPD602;Deferasirox
10 A Phase 1, Open-label, Randomized, 3-Period, Relative Bioavailability Study Comparing the Pharmacokinetics of SSP-004184AQ (Magnesium Salt) to SSP-004184SS (Disodium Salt) Each Administered as a Single Dose and as Two Doses of SSP-004184 (Free Acid) in Healthy Adult Subjects Completed NCT01905540 Phase 1 SSP-004184AQ;SSP-004184SS
11 A Phase 1, Open-label, Randomized, 2-period Crossover Drug Interaction Study in Healthy Adult Subjects to Evaluate the Effect of the Proton Pump Inhibitor Omeprazole on the Pharmacokinetics of SSP-002358 Completed NCT01415349 Phase 1 SSP-002358;SSP-002358 + omeprazole
12 A Phase 1 Study to Investigate the Absorption, Metabolism, and Excretion of [14C]SSP-004184 Following a Single Oral Dose in Healthy Male Subjects Completed NCT01824446 Phase 1 Radiolabeled SPD602 (FBS0701, SSP-004184)
13 A Phase 1, Open-label, Single-dose Study of the Pharmacokinetics, Safety, and Tolerability of SSP-004184 (SPD602) in Subjects With Hepatic Impairment Compared to Matched Healthy Subjects Completed NCT01732263 Phase 1 SSP-004184
14 A Phase 1, Randomized, Open Label, Crossover Study to Evaluate the Pharmacokinetic Interaction Between SSP-004184 (SPD602) and Midazolam in Healthy Adult Subjects Completed NCT01989169 Phase 1 Midazolam;SSP-004184SS
15 A Phase 1, Randomized, Open-label, Cross-over Study to Evaluate the Pharmacokinetic Interaction Between SSP-004184 (SPD602) and Simvastatin in Healthy Adult Subjects Completed NCT01979185 Phase 1 Simvastatin;SSP-004184SS
16 A Phase 1, Open-label, Single-dose Study of the Pharmacokinetics, Safety, and Tolerability of SSP-004184 (FBS0701) in Healthy Adults and Elderly Subjects and in Subjects With Impaired Renal Function Completed NCT01716455 Phase 1 SSP-004184
17 A Phase 1, Open-label, Randomized, 2-period, Crossover, Exploratory Study to Investigate the Effect of Food on the Bioavailability of a Single Dose of SSP-004184SS in Healthy Adult Subjects Completed NCT01905553 Phase 1 SSP-004184SS
18 Double Blind Prospective Randomize Trail of Partial Tear of SSP and Treatment With PRGF Withdrawn NCT01152658 Phase 1
19 Neurogenic Overactive Bladder Treatment on Parkinson's Disease Through Back Tibial Nerve Electrostimulation Unknown status NCT02583529 Early Phase 1
20 Effects of Probiotics on Microbial Translocation and Immune Activation Markers in HIV-positive Patients on Combined Antiretroviral Therapy and Non-virological Study of the Effects of Therapy Unknown status NCT02164344
21 The Application of Evidence-Based Chinese Complementary and Alternative Medicine (CAM) in Hospice Palliative Care in Taiwan-The Second and Third Year Project. Unknown status NCT02663063
22 Arthroscopic Rotator Interval Closure in Shoulder Instability Repair Unknown status NCT00901797
23 Optimizing Stroke Family Caregiver Support Across the Care Continuum by Improving the Timing of Intervention Delivery Completed NCT00958607
24 Evaluation of Jarro-Dophilus EPS® Probiotic Formulations on Probiotic Survival, Fecal Microbiota, Gastrointestinal Function and General Wellness in Healthy Adults: a Randomized, Double-blind, Dose-response Study Completed NCT02693314
25 The Supra Sacral Parallel Shift (SSPS) - Ultrasound Guided Blockade of the Lumbar Plexus Completed NCT01669018
26 SeCore Sequencing Kit and 3500xl Dx Genetic Analyzer Clinical Performance Testing vs. SSP UniTray Completed NCT01285427
27 Effect of Lactobacillus Rhamnosus LGG® and Bifidobacterium Animalis Ssp Lactis BB-12® on Health-related Quality of Life in College Students With Upper Respiratory Infections Completed NCT01657643
28 The Role of Bifidobacterium Animalis Ssp Lactis DR10 Supplementation in Women During Pregnancy and Lactation on Breast Milk IL-8 and Gut Mucosa Integrity in Infant Completed NCT02377544
29 Quantitative Evaluation of the Colonization and Persistence of Bifidobacterium Longum Ssp Longum AH1206 in the Gastrointestinal Tract and Its Tolerance by Human Subjects Completed NCT01650753
30 Supplementation of Infant Formula With the Synbiotics (Lactobacillus Paracasei Ssp. Paracasei Strain F19 and Fructo- and Galactooligosaccharides). Completed NCT01625273
31 The Effects of Bifidobacterium Animalis Ssp. Lactis B94 on Gastrointestinal Function in Adults With Prader-Willi Syndrome: A Randomized, Double-blind Study Completed NCT03277157
32 The Effect of Probiotic Supplementation on the Incidence of Gastrointestinal (GI) Tract and Upper Respiratory System Symptoms and the Endurance Exercise Performance in Masters Runners and Elite Cyclists Completed NCT02756221
33 Probiotics for Irritable Bowel Syndrome Completed NCT01151657
34 Effect of Nutritional Interventions on Inflammatory Status in Healthy Overweight Men Completed NCT00655798
35 The Effect of a Symbiotic LCA Yoghurt on Health-related Quality of Life and the Symptoms of Irritable Bowel Syndrome in Adults: A Randomized, Double-blind, Placebo Controlled, Multicentre Clinical Trial Completed NCT02391220
36 Prediction of Dysplasia Within Sessile Serrated Polyps Using Endoscopic Imaging; a Prospective Observational Study Completed NCT03100552
37 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
38 Immune Benefits of Consumption of Dairy Yogurt Containing Functional Probiotics Among Individuals Over 60 Years Old Completed NCT03051425
39 Motor Learning in Parkinson's Disease: Underlying Effective Connectivity and Influential Factors Recruiting NCT04269577
40 Gut Feeling: Understanding the Mechanisms Underlying the Antidepressant Properties of Probiotics Recruiting NCT03893162
41 Preventing Opioid Overdose Mortality in the United States Recruiting NCT03924505
42 Diagnostic Performance of Smart Supra Perimetry (SSP) in Comparison With Standard Automated Perimetry (SAP) and Ocular Coherence Tomography (OCT). Recruiting NCT03978546
43 Evaluating the Effectiveness of Home-based SSP on Individuals With PWS Recruiting NCT03871751
44 The Effect of the Probiotic Bifidobacterium Animalis Ssp. Lactis 420 (B420) on Body Fat Mass in Overweight and Obese Individuals Following Healthy Lifestyle Intervention: A Randomized, Double-blind, Placebo-controlled, Multi-center Study Recruiting NCT03934229
45 Group (Project Life Force) vs. Individual Suicide Safety Planning RCT Recruiting NCT03653637
46 Triggering Motor Memory Consolidation in Parkinson's Disease: the Effects of Complex Practice on Brain Activity During Learning of Fine Motor Tasks Not yet recruiting NCT04269590
47 Open-label, Randomized Study to Assess the Efficacy of a Probiotic or Fecal Microbiota Transplantation (FMT) on the Eradication of Rectal Multidrug-resistant Gram-negative Bacilli (MDR-GNB) Carriage (PROFTMDECOL) Not yet recruiting NCT04431934

Search NIH Clinical Center for Schopf-Schulz-Passarge Syndrome

Cochrane evidence based reviews: schopf-schulz-passarge syndrome

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Genetic Tests for Schopf-Schulz-Passarge Syndrome

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Genetic tests related to Schopf-Schulz-Passarge Syndrome:

# Genetic test Affiliating Genes
1 Schopf-Schulz-Passarge Syndrome 29 WNT10A
Sources

Anatomical Context for Schopf-Schulz-Passarge Syndrome

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

40
Liver, Breast, Skin, Eye, Colon, Bone, Heart
Sources

Publications for Schopf-Schulz-Passarge Syndrome

About this section

Articles related to Schopf-Schulz-Passarge Syndrome:

(show top 50) (show all 704)
# 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. 6 57
19559398 2009
2
Schöpf-Schulz-Passarge syndrome with an unusual pattern of inheritance. 61 57
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. 57
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. 57
8651714 1996
7
[Schöpf syndrome. Clinical, genetic and lipid biochemical studies]. 57
1473970 1992
8
Schöpf-Schulz-Passarge syndrome. 57
1637691 1992
9
Familial occurrence of eccrine tumours in a family with ectodermal dysplasia. 57
2467492 1988
10
Apocrine hidrocystomas of the lids, hypodontia, palmar-plantar hyperkeratosis, and onychodystrophy. A new variant of ectodermal dysplasia. 57
2947556 1986
11
Eyelid cysts, hypodontia, and hypotrichosis. 57
6725680 1984
12
Impacts and socioeconomic exposures of global extreme precipitation events in 1.5 and 2.0 °C warmer climates. 61
33131855 2021
13
Urbanization and climate change impacts on future flood risk in the Pearl River Delta under shared socioeconomic pathways. 61
33127120 2021
14
Predicting the Water Rebound Effect in China under the Shared Socioeconomic Pathways. 61
33535711 2021
15
Cost-effectiveness of syringe service programs, medications for opioid use disorder, and combination programs in hepatitis C harm reduction among opioid injection drug users: a public payer perspective using a decision tree. 61
33506729 2021
16
Snow cover loss compounding the future economic vulnerability of western China. 61
33138999 2021
17
The University of Miami Infectious Disease Elimination Act Syringe Services Program: A Blueprint for Student Advocacy, Education, and Innovation. 61
32590466 2021
18
Projecting heat-related excess mortality under climate change scenarios in China. 61
33589602 2021
19
Enriching the Shared Socioeconomic Pathways to co-create consistent multi-sector scenarios for the UK. 61
33257058 2021
20
One-dimensional terahertz dielectric gradient metasurface for broadband spoof surface plasmon polaritons couplers. 61
33449010 2021
21
Future global socioeconomic risk to droughts based on estimates of hazard, exposure, and vulnerability in a changing climate. 61
33181999 2021
22
Improvement of production yield and extraction efficacy of recombinant protein by high endosperm-specific expression along with simultaneous suppression of major seed storage proteins. 61
33288006 2021
23
A study of Human Epidermal Growth factor receptor-2 [HER-2] in Carcinoma Oesophagus [Single Institutional Tertiary cancer centre study from North-East part of India]. 61
33433408 2021
24
Harm Reduction and Adaptations Among PWUD in Rural Oregon During COVID-19. 61
33471243 2021
25
The endosperm-specific transcription factor TaNAC019 regulates glutenin and starch accumulation and its elite allele improves wheat grain quality. 61
33582814 2021
26
A gene expression-based single sample predictor of lung adenocarcinoma molecular subtype and prognosis. 61
32745259 2021
27
A qualitative evaluation of the impact of a training programme on colorectal cancer risk reduction for Specialist Screening Practitioners on health promotion, knowledge and practice. 61
33119181 2021
28
Elaboration and characterization of curcumin-loaded soy soluble polysaccharide (SSPS)-based nanocarriers mediated by antimicrobial peptide nisin. 61
32758804 2021
29
Green synthesis of silver nanoparticles using soluble soybean polysaccharide and their application in antibacterial coatings. 61
33144252 2021
30
Projected land-use changes in the Shared Socioeconomic Pathways: Insights and implications. 61
32378037 2020
31
Alexithymia in Alzheimer's Disease. 61
33375608 2020
32
In-depth secretome analysis of Puccinia striiformis f. sp. tritici in infected wheat uncovers effector functions. 61
33275764 2020
33
Technical Note: A simple method for measuring the slice sensitivity profile of iteratively reconstructed CT images using a non-slanted edge plane. 61
33332583 2020
34
Long-term drivers of persistence and colonization dynamics in spatially structured amphibian populations. 61
33355400 2020
35
Inferring signaling pathways with probabilistic programming. 61
33381832 2020
36
The forgotten 2S albumin proteins: Importance, structure, and biotechnological application in agriculture and human health. 61
32937155 2020
37
Overcoming gender inequality for climate resilient development. 61
33319776 2020
38
Comparative genomics reveals dynamic genome evolution in host specialist ectomycorrhizal fungi. 61
33355923 2020
39
A novel NAC family transcription factor SPR suppresses seed storage protein synthesis in wheat. 61
33305445 2020
40
Anxiety and Depression Among Non-Facial Burn Patients at a Tertiary Care Center in Pakistan. 61
33304682 2020
41
Features associated with high-risk sessile serrated polyps at index and follow-up colonoscopy. 61
33140867 2020
42
Changes to Carbon Isotopes in Atmospheric CO2 Over the Industrial Era and Into the Future. 61
33380771 2020
43
Distance matters: The association of proximity to syringe services programs with sharing of syringes and injecting equipment - 17 U.S. cities, 2015. 61
32920424 2020
44
Dealing with soy sauce precipitation at submicron-/nano-scale: An industrially feasible approach involving enzymolysis with protease and alkaline conditions. 61
33233247 2020
45
Shared Socio-economic Pathways for European agriculture and food systems: The Eur-Agri-SSPs. 61
32982074 2020
46
Antibacterial and probiotic promotion potential of a new soluble soybean polysaccharide‑iron(III) complex. 61
32941899 2020
47
Excite Spoof Surface Plasmons with Tailored Wavefronts Using High-Efficiency Terahertz Metasurfaces. 61
33042739 2020
48
Efficacy and Safety of Endoscopic Resection of Sessile Serrated Polyps 10 mm or Larger: A Systematic Review and Meta-Analysis. 61
31786330 2020
49
COVID-19 and People Who Use Drugs - A Commentary. 61
33134405 2020
50
Assessment of abnormalities in lipid profiles of patients with chronic kidney disease from different hospitals of Lahore, Pakistan: A case control study. 61
33159764 2020
Sources

Variations for Schopf-Schulz-Passarge Syndrome

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

6 (show top 50) (show all 84)
# 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.321C>A (p.Cys107Ter) SNV Pathogenic 4461 rs121908119 2:219747090-219747090 2:218882368-218882368
3 WNT10A NM_025216.3(WNT10A):c.742C>T (p.Arg248Ter) SNV Pathogenic 265293 rs886039453 2:219755071-219755071 2:218890349-218890349
4 WNT10A NM_025216.3(WNT10A):c.616C>T (p.Gln206Ter) SNV Likely pathogenic 417898 rs1060499588 2:219754945-219754945 2:218890223-218890223
5 WNT10A NM_025216.3(WNT10A):c.382C>T (p.Arg128Ter) SNV Likely pathogenic 464181 rs762739726 2:219754711-219754711 2:218889989-218889989
6 WNT10A NM_025216.3(WNT10A):c.166A>G (p.Asn56Asp) SNV Uncertain significance 894811 2:219746935-219746935 2:218882213-218882213
7 WNT10A NM_025216.3(WNT10A):c.487C>T (p.Arg163Trp) SNV Uncertain significance 189351 rs368280129 2:219754816-219754816 2:218890094-218890094
8 WNT10A NM_025216.3(WNT10A):c.653T>G (p.Met218Arg) SNV Uncertain significance 894952 2:219754982-219754982 2:218890260-218890260
9 WNT10A NM_025216.3(WNT10A):c.664G>A (p.Glu222Lys) SNV Uncertain significance 894953 2:219754993-219754993 2:218890271-218890271
10 WNT10A NM_025216.3(WNT10A):c.668G>A (p.Arg223His) SNV Uncertain significance 894954 2:219754997-219754997 2:218890275-218890275
11 WNT10A NM_025216.3(WNT10A):c.526C>T (p.Arg176Cys) SNV Uncertain significance 896321 2:219754855-219754855 2:218890133-218890133
12 WNT10A NM_025216.3(WNT10A):c.694C>T (p.Arg232Trp) SNV Uncertain significance 896389 2:219755023-219755023 2:218890301-218890301
13 WNT10A NM_025216.3(WNT10A):c.*139C>G SNV Uncertain significance 896531 2:219758132-219758132 2:218893410-218893410
14 WNT10A NM_025216.3(WNT10A):c.-123C>A SNV Uncertain significance 897794 2:219745595-219745595 2:218880873-218880873
15 WNT10A NM_025216.3(WNT10A):c.364A>T (p.Ile122Phe) SNV Uncertain significance 897866 2:219747133-219747133 2:218882411-218882411
16 WNT10A NM_025216.3(WNT10A):c.377-11T>C SNV Uncertain significance 897867 2:219754695-219754695 2:218889973-218889973
17 WNT10A NM_025216.3(WNT10A):c.697G>A (p.Glu233Lys) SNV Uncertain significance 896390 2:219755026-219755026 2:218890304-218890304
18 WNT10A NM_025216.3(WNT10A):c.719C>T (p.Ala240Val) SNV Uncertain significance 898019 2:219755048-219755048 2:218890326-218890326
19 WNT10A NM_025216.3(WNT10A):c.1035C>A (p.Phe345Leu) SNV Uncertain significance 896458 2:219757774-219757774 2:218893052-218893052
20 WNT10A NM_025216.3(WNT10A):c.*238C>T SNV Uncertain significance 898152 2:219758231-219758231 2:218893509-218893509
21 WNT10A NM_025216.3(WNT10A):c.*339C>T SNV Uncertain significance 898153 2:219758332-219758332 2:218893610-218893610
22 WNT10A NM_025216.3(WNT10A):c.-70G>C SNV Uncertain significance 898940 2:219745648-219745648 2:218880926-218880926
23 WNT10A NM_025216.3(WNT10A):c.443C>T (p.Ala148Val) SNV Uncertain significance 899013 2:219754772-219754772 2:218890050-218890050
24 WNT10A NM_025216.3(WNT10A):c.483G>C (p.Ala161=) SNV Uncertain significance 894882 2:219754812-219754812 2:218890090-218890090
25 WNT10A NM_025216.3(WNT10A):c.444G>A (p.Ala148=) SNV Uncertain significance 743353 rs147145554 2:219754773-219754773 2:218890051-218890051
26 WNT10A NM_025216.3(WNT10A):c.660C>T (p.Phe220=) SNV Uncertain significance 702777 rs765046353 2:219754989-219754989 2:218890267-218890267
27 WNT10A NM_025216.3(WNT10A):c.283G>A (p.Glu95Lys) SNV Uncertain significance 68843 rs318240759 2:219747052-219747052 2:218882330-218882330
28 WNT10A NM_025216.3(WNT10A):c.433G>A (p.Val145Met) SNV Uncertain significance 464182 rs543063101 2:219754762-219754762 2:218890040-218890040
29 WNT10A NM_025216.3(WNT10A):c.801G>A (p.Thr267=) SNV Uncertain significance 766991 rs553058408 2:219757540-219757540 2:218892818-218892818
30 WNT10A NM_025216.3(WNT10A):c.841C>A (p.Pro281Thr) SNV Uncertain significance 334407 rs541715493 2:219757580-219757580 2:218892858-218892858
31 WNT10A NM_025216.3(WNT10A):c.1017C>T (p.Phe339=) SNV Uncertain significance 334411 rs531326479 2:219757756-219757756 2:218893034-218893034
32 WNT10A NM_025216.2(WNT10A):c.-370C>A SNV Uncertain significance 334380 rs886055634 2:219745348-219745348 2:218880626-218880626
33 WNT10A NM_025216.3(WNT10A):c.*15C>T SNV Uncertain significance 334416 rs886055645 2:219758008-219758008 2:218893286-218893286
34 WNT10A NM_025216.3(WNT10A):c.756+13C>A SNV Uncertain significance 334403 rs745958462 2:219755098-219755098 2:218890376-218890376
35 WNT10A NM_025216.3(WNT10A):c.*115C>T SNV Uncertain significance 334418 rs886055646 2:219758108-219758108 2:218893386-218893386
36 WNT10A NM_025216.3(WNT10A):c.1061C>T (p.Ser354Leu) SNV Uncertain significance 334413 rs781178898 2:219757800-219757800 2:218893078-218893078
37 WNT10A NM_025216.3(WNT10A):c.315G>C (p.Trp105Cys) SNV Uncertain significance 334395 rs886055642 2:219747084-219747084 2:218882362-218882362
38 WNT10A NM_025216.2(WNT10A):c.-194dupC Duplication Uncertain significance 334389 rs886055639 2:219745516-219745517 2:218880794-218880795
39 WNT10A NM_025216.3(WNT10A):c.551G>A (p.Arg184His) SNV Uncertain significance 334401 rs372756514 2:219754880-219754880 2:218890158-218890158
40 WNT10A NM_025216.2(WNT10A):c.-341A>G SNV Uncertain significance 334382 rs762914440 2:219745377-219745377 2:218880655-218880655
41 WNT10A NM_025216.3(WNT10A):c.149C>T (p.Pro50Leu) SNV Uncertain significance 334393 rs199980023 2:219746918-219746918 2:218882196-218882196
42 WNT10A NM_025216.3(WNT10A):c.1134C>T (p.Gly378=) SNV Uncertain significance 334415 rs886055644 2:219757873-219757873 2:218893151-218893151
43 WNT10A NM_025216.3(WNT10A):c.498C>T (p.Asp166=) SNV Uncertain significance 334400 rs143463683 2:219754827-219754827 2:218890105-218890105
44 WNT10A NM_025216.3(WNT10A):c.1049C>T (p.Pro350Leu) SNV Uncertain significance 334412 rs564146190 2:219757788-219757788 2:218893066-218893066
45 WNT10A NM_025216.3(WNT10A):c.756+14C>T SNV Uncertain significance 334404 rs200733269 2:219755099-219755099 2:218890377-218890377
46 WNT10A NM_025216.2(WNT10A):c.-202G>C SNV Uncertain significance 334388 rs886055638 2:219745516-219745516 2:218880794-218880794
47 WNT10A NM_025216.2(WNT10A):c.-358G>A SNV Uncertain significance 334381 rs886055635 2:219745360-219745360 2:218880638-218880638
48 WNT10A NM_025216.3(WNT10A):c.349C>T (p.Pro117Ser) SNV Uncertain significance 334396 rs144212422 2:219747118-219747118 2:218882396-218882396
49 WNT10A NM_025216.3(WNT10A):c.1162C>T (p.Arg388Cys) SNV Uncertain significance 989509 2:219757901-219757901 2:218893179-218893179
50 WNT10A NM_025216.3(WNT10A):c.437C>G (p.Ser146Cys) SNV Uncertain significance 334398 rs759718991 2:219754766-219754766 2:218890044-218890044

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

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Expression for Schopf-Schulz-Passarge Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 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 9.13 SENP7 SENP6 SENP3
2 SUMO-specific endopeptidase activity GO:0070139 8.62 SENP7 SENP6
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Sources for Schopf-Schulz-Passarge Syndrome

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
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44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
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56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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