Peeling Skin Syndrome (PSS)

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Peeling Skin Syndrome

MalaCards integrated aliases for Peeling Skin Syndrome:

Name: Peeling Skin Syndrome 12 20 58 36 15 70
Familial Continuous Skin Peeling Syndrome 20 58
Keratosis Exfoliativa Congenita 20 58
Idiopathic Deciduous Skin 20 58
Skin Peeling Syndrome 73 20
Peeling Skin Disease 20 58
Deciduous Skin 20 58
Pss 20 58
Keratolysis Exfoliativa Congenita 20
Familial Continuous Skin Peeling 20
Keratolysis Exfoliativa 70
Exfoliation Syndrome 70


Orphanet epidemiological data:

peeling skin syndrome
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;


Orphanet: 58  
Rare skin diseases

External Ids:

Disease Ontology 12 DOID:0060283
KEGG 36 H00737
ICD10 32 Q80.8
ICD10 via Orphanet 33 Q80.8
UMLS via Orphanet 71 C0343064 C0406357 C1849193
Orphanet 58 ORPHA817
UMLS 70 C0206368 C0343064 C1849193

Summaries for Peeling Skin Syndrome

GARD : 20 Peeling skin syndrome (PSS) refers to a group of conditions that causes skin to peel and tear easily. The main symptom is continual peeling of the skin. The peeling skin is usually painless. Additional symptoms may depend on the form of PSS. Some people with PSS have itching, redness, and scarring. The symptoms of PSS can appear anytime from birth to adulthood, but usually occur by childhood. There are two forms of PSS. In the generalized form, skin peeling involves most of the body. The generalized form has two subtypes, noninflammatory and inflammatory. There is an acral form in which skin peeling is limited to the hands and feet. PSS is caused by genetic variants in several different genes and is inherited in an autosomal recessive pattern of inheritance. PSS is diagnosed based on the symptoms. Other more common conditions may need to be excluded. Treatment is focused on managing the symptoms.

MalaCards based summary : Peeling Skin Syndrome, also known as familial continuous skin peeling syndrome, is related to peeling skin syndrome 2 and peeling skin syndrome 1. An important gene associated with Peeling Skin Syndrome is TGM5 (Transglutaminase 5), and among its related pathways/superpathways is Keratinization. The drugs Latanoprost and Timolol have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and bone, and related phenotypes are ichthyosis and aminoaciduria

Disease Ontology : 12 A skin disease that is characterized by the painless peeling of the top layer of skin predominately on the hands and feet, has material basis in autosomal recessive inheritance of mutation in the TGM5 gene and/pr CSTA gene.

KEGG : 36 Peeling skin syndrome (PSS) is a group of rare autosomal recessive disorders characterized by superficial detachment of the epidermal corneal layers. PSS can be divided into two main types, acral PSS (APSS) and generalized PSS. APSS involves the palmar, plantar and dorsal surfaces of hands and feet. Generalized PSS can be further divided into the non-inflammatory (type A) and the inflammatory (type B) forms. Several underlying genetic causes of PSS have been identified.

Wikipedia : 73 Peeling skin syndrome (also known as "acral peeling skin syndrome", "continual peeling skin syndrome",... more...

Related Diseases for Peeling Skin Syndrome

Diseases in the Peeling Skin Syndrome family:

Peeling Skin Syndrome 1 Peeling Skin Syndrome 4
Peeling Skin Syndrome 2 Peeling Skin Syndrome 3
Peeling Skin Syndrome 5 Peeling Skin Syndrome 6
Peeling Skin Syndrome Type C Peeling Skin Syndrome Type a

Diseases related to Peeling Skin Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 145)
# Related Disease Score Top Affiliating Genes
1 peeling skin syndrome 2 33.4 TGM5 CSTA
2 peeling skin syndrome 1 33.0 TGM5 PSORS1C1 CDSN
3 peeling skin syndrome 6 32.9 FLG2 FLG-AS1
4 peeling skin syndrome type a 32.6 FLG2 CHST8
5 generalized peeling skin syndrome 32.6 TGM5 PSORS1C1 CDSN
6 exfoliative ichthyosis 30.5 SERPINB8 CSTA
7 hypotrichosis simplex of the scalp 30.3 PSORS1C1 CDSN
8 hypotrichosis 30.1 PSORS1C1 DSG1 CDSN
9 psoriasis 1 29.9 PSORS1C2 PSORS1C1 CDSN
10 netherton syndrome 29.8 TGM3 SPINK5 DSG1 CDSN
11 dermatitis 29.7 SPINK5 FLG-AS1 DSG1
12 ichthyosis 29.6 TGM3 SPINK5 SERPINB8 FLG-AS1 CSTA COL7A1
13 psoriasis 29.5 PSORS1C2 PSORS1C1 FLG2 CSTA CDSN
14 ichthyosis vulgaris 29.4 SPINK5 FLG2 FLG-AS1 DSG1 CDSN
15 dermatitis, atopic 29.4 TGM3 SPINK5 CSTA CDSN
16 autosomal recessive congenital ichthyosis 29.3 TGM5 TGM3 SPINK5 FLG2 CDSN
17 skin disease 28.6 TGM3 SPINK5 PSORS1C1 FLG-AS1 DSG1 CSTA
18 peeling skin syndrome 3 11.8
19 peeling skin syndrome 5 11.7
20 peeling skin syndrome 4 11.6
21 potocki-shaffer syndrome 11.5
22 peeling skin syndrome type c 11.3
23 ichthyosis bullosa of siemens 11.1
24 scleroderma, familial progressive 10.6
25 systemic scleroderma 10.4
26 erythrokeratoderma ''en cocardes'' 10.4
27 autosomal recessive disease 10.3
28 prostatic hyperplasia, benign 10.3
29 prostatic hypertrophy 10.3
30 prostatic adenoma 10.3
31 epidermolysis bullosa 10.3
32 epidermolysis bullosa simplex 10.3
33 keratosis 10.2
34 psoriasis 5 10.2 CSTA CDSN
35 connective tissue disease 10.2
36 dermatitis, atopic, 2 10.1 FLG-AS1 CDSN
37 raynaud phenomenon 10.1
38 hypotrichosis simplex 10.1
39 rare genetic skin disease 10.1
40 post-traumatic stress disorder 10.1
41 localized scleroderma 10.1
42 acquired hyperkeratosis 10.1 SPINK5 DSG1
43 autoimmune disease 10.0
44 telangiectasis 10.0
45 pustulosis of palm and sole 10.0
46 thyroiditis 10.0
47 dysphagia 10.0
48 spinocerebellar ataxia 35 10.0 TGM5 TGM3
49 ige responsiveness, atopic 10.0
50 immunoglobulin switch sequences 10.0

Graphical network of the top 20 diseases related to Peeling Skin Syndrome:

Diseases related to Peeling Skin Syndrome

Symptoms & Phenotypes for Peeling Skin Syndrome

Human phenotypes related to Peeling Skin Syndrome:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 ichthyosis 31 hallmark (90%) HP:0008064
2 aminoaciduria 31 hallmark (90%) HP:0003355
3 dry skin 31 hallmark (90%) HP:0000958
4 abnormal blistering of the skin 31 hallmark (90%) HP:0008066
5 hyperhidrosis 31 frequent (33%) HP:0000975
6 multiple cafe-au-lait spots 31 frequent (33%) HP:0007565
7 abnormality of hair texture 31 frequent (33%) HP:0010719

Drugs & Therapeutics for Peeling Skin Syndrome

Drugs for Peeling Skin Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 65)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Latanoprost Approved, Investigational Phase 4 130209-82-4 5282380 5311221
Timolol Approved Phase 4 26839-75-8 33624 5478
Bimatoprost Approved, Investigational Phase 4 155206-00-1 5311027
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
Bromfenac Approved Phase 4 91714-94-2 60726
Tobramycin Approved, Investigational Phase 4 32986-56-4 5496 36294
Heparin Approved, Investigational Phase 4 9005-49-6 772 9812414
Dorzolamide Approved Phase 4 120279-96-1 3154 5284549
Cloprostenol Vet_approved Phase 4 54276-21-0
Maleic acid Experimental Phase 4 110-16-7 444266
12 Neurotransmitter Agents Phase 4
13 Anti-Arrhythmia Agents Phase 4
14 Adrenergic Antagonists Phase 4
15 Adrenergic beta-Antagonists Phase 4
16 Adrenergic Agents Phase 4
17 Antihypertensive Agents Phase 4
18 Pharmaceutical Solutions Phase 4
19 Ophthalmic Solutions Phase 4
20 Contraceptive Agents Phase 4
21 Hormones Phase 4
22 Antirheumatic Agents Phase 4
23 Anti-Inflammatory Agents Phase 4
24 Hormone Antagonists Phase 4
25 glucocorticoids Phase 4
26 Antineoplastic Agents, Hormonal Phase 4
27 Analgesics Phase 4
28 Anti-Inflammatory Agents, Non-Steroidal Phase 4
29 Analgesics, Non-Narcotic Phase 4
30 Carbonic Anhydrase Inhibitors Phase 4
31 Gastrointestinal Agents Phase 4
32 Antiemetics Phase 4
33 Anti-Bacterial Agents Phase 4
34 Antibiotics, Antitubercular Phase 4
35 Anti-Infective Agents Phase 4
36 calcium heparin Phase 4
Apraclonidine Approved Phase 3 66711-21-5 2216
Travoprost Approved Phase 3 157283-68-6 5282226
39 Brimonidine Tartrate Phase 3 70359-46-5
40 Proxymetacaine Phase 3
41 Lubricant Eye Drops Phase 3
Methylprednisolone hemisuccinate Approved 2921-57-5
Methylprednisolone Approved, Vet_approved 83-43-2 6741
Prednisolone Approved, Vet_approved 50-24-8 5755
Prednisolone acetate Approved, Vet_approved 52-21-1
Prednisolone phosphate Approved, Vet_approved 302-25-0
Ketorolac Approved 74103-06-3, 66635-83-4 3826
Brinzolamide Approved 138890-62-7 68844
Dipivefrin Approved 52365-63-6 3105
Pilocarpine Approved, Investigational 92-13-7, 54-71-7 5910

Interventional clinical trials:

(show all 45)
# Name Status NCT ID Phase Drugs
1 24-Hour Intraocular Pressure Control Obtained With the Bimatoprost/Timolol Fixed Combination Compared With Latanoprost as First Choice Therapy in Subjects With Exfoliation Syndrome, or Exfoliative Glaucoma Completed NCT01448837 Phase 4 Bimatoprost/Timolol, 24-hour intraocular pressure monitoring;Latanoprost, 24-hour intraocular pressure monitoring
2 The Reggio Emilia Study on Bromfenac for Patients With PseudoEXfoliation Syndrome Undergoing Cataract Surgery: the REPEX Study Completed NCT02137161 Phase 4 Dexamethasone+Tobramycin eye drop;Bromfenac eye drop
3 Aqueous Flare of a Hydrophobic Acrylic Single-piece Open-loop IOL With Modified Material Surface Properties Completed NCT01767012 Phase 4
4 Assessing Cosopt Switch Patients Completed NCT00273442 Phase 4 timolol maleate;dorzolamide/timolol maleate fixed combination
5 Randomized Multicentre Prospective Study of Selective Laser Trabeculoplasty (SLT) vs. Argon Trabeculoplasty (ALT) in Patients With Pseudoexfoliation Glaucoma and Ocular Hypertension Completed NCT01126203 Phase 3
6 24-Hour Intraocular Pressure (IOP) Control With Travoprost/Timolol Fixed Combination Completed NCT00331240 Phase 3 travoprost/timolol fixed combination;placebo (artificial tears)
7 A Prospective Study to Assess the Hypotensive Efficacy of Rho-Kinase Inhibitor AR-12286 Ophthalmic Solution 0.5% and 0.7% in Patients With Exfoliation Syndrome and Ocular Hypertension or Glaucoma Completed NCT01936389 Phase 2 AR-12286
8 Prospective Study to Examine the Efficacy of a Capsular Tension Ring (CTR) in Preventing Anterior Capsule Shrinkage After Cataract Surgery in Exfoliation Syndrome (XFS) With no Zonular Weakness Unknown status NCT01455168
9 The International Collaborative Exfoliation Syndrome Treatment Study Unknown status NCT00804115 Latanoprost with Pilocarpine vs Timolol or Cosopt
10 Evaluation of LOXL1 Polymorphism in Pseudoexfoliation Syndrome in the Korean Population Unknown status NCT01515735
11 Following Patients After Selective and Pascal Laser Trabeculoplasty for Treatment of Chronic Open-Angle Glaucoma Unknown status NCT02679482
12 The Possible Association Between Pseudoexfoliation Syndrome and Diabetes Mellitus in an Egyptian Population Unknown status NCT03741153
13 IOP Monitoring After Trabeculectomy Using iCare Home Unknown status NCT03445806
14 Comparison of the Capsular Stability With Two Different IOL Models in Patients With Pseudoexfoliation Syndrome: an Exploratory Study Unknown status NCT02155478
15 Monitoring of the Intraocular Pressure After Selective Laser Trabeculoplasty Using iCare Home Unknown status NCT03310788
16 The Corneal Endothelial Cell Count in Eyes With Pseudoexfoliation Syndrome Unknown status NCT03265457
17 Central Corneal Thickness in Patients With Exfoliation Syndrome, Exfoliative Glaucoma, Exfoliative Glaucoma, Primary Open-angle Glaucoma and Ocular Hypertension Completed NCT01023997
18 Evaluation of Scanning Laser Polarimetry Findings in Individuals With Exfoliation Syndrome Compared With Normal Controls Completed NCT01022281
19 Anti-inflammatory Therapy Following Selective Laser Trabeculoplasty (SLT): A Randomized, Masked, Placebo Controlled Study Completed NCT00485108 prednisolone 1%;ketorolac 0.5%;Artificial Tears (Methyl cellulose drops)
20 Optical Low Coherence Reflectometry Enables Preoperative Detection of Zonular Weakness in Pseudoexfoliation Syndrome Completed NCT01298895
21 A 3-month, Observational Study Investigating With Electronic Monitoring the Level of Adherence and Treatment Satisfaction With Latanoprost/Timolol Fixed Combination Versus Unfixed Therapy in Open-angle Glaucoma Completed NCT01281020
22 Study of the Efficacy of a Single Session Micropulse Laser Trabeculoplasty as an Adjunctive Measure in Decreasing Intraocular Pressure in Patients Suffering From Pseudoexfoliation Glaucoma Completed NCT03483402
23 Pseudoexfoliation Syndrome in Myopes Defined With Optical Low Coherence Reflectometry Completed NCT01637740
24 Changes in Ocular Rigidity After Trabeculectomy in Patients With POAG or PEX Completed NCT02544646
25 Assessment of Long-term Intraocular Lens (IOL) Decentration and Tilt in Eyes With Pseudoexfoliation Syndrome (PES) Following Cataract Surgery Completed NCT03453827
26 Refractive Outcomes of Phacoemulsification Cataract Surgery in Eyes With Pseudoexfoliation Syndrome Completed NCT04783909
27 A Comparison of the Additivity of Brinzolamide Ophthalmic Suspension, 1% (Azopt) and Brimonidine Tartrate Ophthalmic Solution, 0.15% (Alphagan P) to Travoprost Ophthalmic Solution, 0.004% (Travatan) in Patients With Elevated IOP on Travoprost. A Three Month Double-Masked, Multi-Center Trial in the United States Completed NCT00121147 Travatan;Azopt;Alphagan P
28 The Diurnal and Nocturnal Effect of Simbrinza and Timolol on Intraocular Pressure and Ocular Perfusion Pressure Completed NCT02165631
29 Plasma Levels of Matrix Metalloproteinases and Degree of DNA Fragmentation in Patients With Pseudoexfoliation Syndrome and Open-Angle Glaucoma (PEXG) Completed NCT00327613
30 Investigating the Genetic Basis of Pseudoexfoliation Syndrome, Angle-closure Glaucoma and Primary Open-angle Glaucoma Recruiting NCT03423758
31 INTEGRAL Study: A Longitudinal Study of Surgeries and Lasers in Glaucoma: Long-term Results and Success Predictors Analysed From a Large-scale Retrospective and Prospective Glaucoma Register Recruiting NCT04381611
32 Cataract Surgery in Patients With Pseudoexfoliation and Pseudoexfoliation Glaucoma Recruiting NCT04590651
33 A Prospective Randomised Trial Comparing Selective Laser Trabeculoplasty (SLT) and iStent Trabecular Micro-bypass Stent Implantation Combined With Cataract Surgery in Exfoliation Glaucoma Recruiting NCT04635020
34 The Natural History of Artificial Intraocular Lenses (IOL) in Eyes With Exfoliation Syndrome Active, not recruiting NCT01255995
35 Randomised Controlled Trial to Evaluate the Efficacy and Safety of Lens Extraction in Patients With Pseudoexfoliation Glaucoma: a Feasibility and Pilot Study Active, not recruiting NCT03494465 MEDICAL GLAUCOMA TREATMENT
36 Optimal Treatment Protocol for Selective Laser Trabeculoplasty Enrolling by invitation NCT03798223
37 The Oscillation of Crystalline and Intraocular Lenses: a Feasibility Study of the Lens' Movements in the Eye Not yet recruiting NCT04274634
38 Intraocular Pressure After Preserflo /Innfocus Microshunt vs Trabeculectomy: a Prospective, Randomised Control-trial (PAINT-Study) Not yet recruiting NCT04440527
39 Canadian Pseudoexfoliation Glaucoma Trial: Comparison of Phacoemulsification Versus Selective Laser Trabeculoplasty as Initial Treatment for Pseudoexfoliation Glaucoma Not yet recruiting NCT04416724
40 Prevalence of Ocular Surface Disease in Malaysian Glaucoma Patients Not yet recruiting NCT04609345
41 Imaging Lens Changes in Exfoliation Syndrome Using Anterior Segment OCT Terminated NCT02042703
42 A Comparison of Intracameral Phenylephrine 2% and Tropicamide 0.2% With Topical Phenylephrine 2.5% and Tropicamide 1% for Pupillary Dilation During Cataract Surgery on Patients With and Without Pseudoexfoliation Syndrome. Terminated NCT00690222
43 Abdominal Aortic Aneurysms Are Associated With Pseudoexfoliation Syndrome Terminated NCT00546013
44 Comparison of Porcine Submucosal Tissue Patch Graft (KeraSys) Versus Processed Pericardium Patch Graft (Tutoplast) in Glaucoma Drainage Implant Surgery Using a Molteno 3 Shunt Terminated NCT01301378
45 Pressure Reduction and Medication Use Following Different Minimally Invasive Glaucoma Surgery Procedures, Prospective Randomized Clinical Trial of Efficacy Withdrawn NCT04202510

Search NIH Clinical Center for Peeling Skin Syndrome

Genetic Tests for Peeling Skin Syndrome

Anatomical Context for Peeling Skin Syndrome

MalaCards organs/tissues related to Peeling Skin Syndrome:

Skin, Eye, Bone, Kidney, Endothelial, Heart, Prostate

Publications for Peeling Skin Syndrome

Articles related to Peeling Skin Syndrome:

(show top 50) (show all 94)
# Title Authors PMID Year
PLACK syndrome resulting from a novel homozygous variant in CAST. 61
33010050 2021
Development of a pathogenesis-based therapy for peeling skin syndrome type 1. 61
32926582 2020
Phenotypic suppression of acral peeling skin syndrome in a patient with autosomal recessive congenital ichthyosis. 61
32618001 2020
NRF2 Augments Epidermal Antioxidant Defenses and Promotes Atopy. 61
32690656 2020
A novel homozygous nonsense mutation in CAST associated with PLACK syndrome. 61
31392520 2019
Exome-based search for recurrent disease-causing alleles in Russian population. 61
31028847 2019
A Case of Peeling Skin Syndrome. 61
31334085 2019
Peeling Skin Syndrome: A Pathologically Invisible Dermatosis. 61
31548926 2019
Acral peeling skin syndrome: An underdiagnosed skin disorder. 61
30688214 2019
Transglutaminase diseases: from biochemistry to the bedside. 61
30593123 2019
Filaggrin 2 Deficiency Results in Abnormal Cell-Cell Adhesion in the Cornified Cell Layers and Causes Peeling Skin Syndrome Type A. 61
29758285 2018
Generalized Ichthyotic Peeling Skin Syndrome due to FLG2 Mutations. 61
29505760 2018
Peeling skin syndrome associated with novel variant in FLG2 gene. 61
28884927 2017
Enhanced Proteolytic Activities in Acral Peeling Skin Syndrome: A Role of Transglutaminase 5 in Epidermal Homeostasis. 61
28395976 2017
A Case of Peeling Skin Syndrome. 61
28584761 2017
The glycan-specific sulfotransferase (R77W)GalNAc-4-ST1 putatively responsible for peeling skin syndrome has normal properties consistent with a simple sequence polymorphisim. 61
28204496 2017
A Case of Late-Onset Peeling Skin Syndrome Likely Triggered by Irritation. 61
28223764 2017
Acral Peeling Skin Syndrome: A Case Report and Literature Review. 61
27206604 2016
Counterregulation between thymic stromal lymphopoietin- and IL-23-driven immune axes shapes skin inflammation in mice with epidermal barrier defects. 61
26993035 2016
Acral peeling skin syndrome associated with a novel CSTA gene mutation. 61
26684698 2016
Acral peeling skin syndrome resulting from mutations in TGM5. 61
25510201 2016
Late Onset Skin Peeling Syndrome. 61
27057053 2016
Differential Diagnosis of Genetic Disorders Associated with Moderate to Severe Refractory Eczema and Elevated Immunoglobulin E. 61
26593686 2016
Peeling skin syndrome. 61
26150647 2015
Novel TGM5 mutations in acral peeling skin syndrome. 61
25644735 2015
Immunoglobulin A nephropathy in association with generalized inflammatory peeling skin syndrome. 61
25196305 2015
Cell cycle- and cancer-associated gene networks activated by Dsg2: evidence of cystatin A deregulation and a potential role in cell-cell adhesion. 61
25785582 2015
Hypercalciuria in a child with acral peeling skin syndrome: a case report. 61
25969915 2015
Adult-onset acral peeling skin syndrome in a non-identical twin: a case report in South Africa. 61
25549719 2014
Under-recognition of acral peeling skin syndrome: 59 new cases with 15 novel mutations. 61
24628291 2014
Peeling off the genetics of atopic dermatitis-like congenital disorders. 61
25282561 2014
A Case of Inflammatory Generalized Type of Peeling Skin Syndrome Possibly Caused by a Homozygous Missense Mutation of CDSN. 61
25473393 2014
Homozygous deletion of six genes including corneodesmosin on chromosome 6p21.3 is associated with generalized peeling skin disease. 61
24794518 2014
Increased expression of epidermal thymic stromal lymphopoietin in inflammatory peeling skin syndrome. 61
24628284 2014
[Skin peeling syndrome]. 61
24703652 2014
[Acral peeling skin syndrome]. 61
24703651 2014
Inflammatory peeling skin syndrome caused by homozygous genomic deletion in the PSORS1 region encompassing the CDSN gene. 61
24372652 2014
Identification of the first nonsense CDSN mutation with expression of a truncated protein causing peeling skin syndrome type B. 61
23957618 2013
Aberrant distribution patterns of corneodesmosomal components of tape-stripped corneocytes in atopic dermatitis and related skin conditions (ichthyosis vulgaris, Netherton syndrome and peeling skin syndrome type B). 61
23810772 2013
Acral peeling skin syndrome resulting from a homozygous nonsense mutation in the CSTA gene encoding cystatin A. 61
23534700 2013
Acral peeling skin syndrome resembling epidermolysis bullosa simplex in a 10-month-old boy. 61
24019772 2013
Keratolysis exfoliativa (dyshidrosis lamellosa sicca): a distinct peeling entity. 61
23039091 2012
TGM5 mutations impact epidermal differentiation in acral peeling skin syndrome. 61
22622422 2012
Peeling skin syndrome in eight cases of four different families from India and Bangladesh. 61
22960820 2012
Peeling skin diseases: 21 cases from Turkey and a review of the literature. 61
21711468 2012
Acral peeling skin syndrome: a clinically and genetically heterogeneous disorder. 61
22066523 2012
Netherton syndrome showing a large clinical overlap with generalized inflammatory peeling skin syndrome. 61
22562784 2012
Inflammatory peeling skin syndrome caused a novel mutation in CDSN. 61
22146835 2012
Whole-exome sequencing in a single proband reveals a mutation in the CHST8 gene in autosomal recessive peeling skin syndrome. 61
22289416 2012
Acral peeling skin syndrome in two East-African siblings: case report. 61
22429841 2012

Variations for Peeling Skin Syndrome

Expression for Peeling Skin Syndrome

Search GEO for disease gene expression data for Peeling Skin Syndrome.

Pathways for Peeling Skin Syndrome

Pathways related to Peeling Skin Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
Show member pathways

GO Terms for Peeling Skin Syndrome

Cellular components related to Peeling Skin Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 desmosome GO:0030057 8.96 DSG1 CDSN
2 cornified envelope GO:0001533 8.92 FLG2 DSG1 CSTA CDSN

Biological processes related to Peeling Skin Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.72 FLG2 DSG1 CSTA COL7A1 CDSN
2 cell-cell adhesion GO:0098609 9.63 DSG1 CSTA CDSN
3 negative regulation of endopeptidase activity GO:0010951 9.58 SERPINB8 CSTA COL7A1
4 epidermis development GO:0008544 9.54 TGM5 COL7A1 CDSN
5 negative regulation of proteolysis GO:0045861 9.43 SPINK5 CSTA
6 keratinocyte differentiation GO:0030216 9.43 TGM3 CSTA CDSN
7 peptide cross-linking GO:0018149 9.33 TGM5 TGM3 CSTA
8 negative regulation of peptidase activity GO:0010466 9.26 SPINK5 SERPINB8 CSTA COL7A1
9 cornification GO:0070268 9.02 TGM5 SPINK5 DSG1 CSTA CDSN

Molecular functions related to Peeling Skin Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 serine-type endopeptidase inhibitor activity GO:0004867 9.33 SPINK5 SERPINB8 COL7A1
2 protein-glutamine gamma-glutamyltransferase activity GO:0003810 8.96 TGM5 TGM3
3 peptidase inhibitor activity GO:0030414 8.92 SPINK5 SERPINB8 CSTA COL7A1

Sources for Peeling Skin Syndrome

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
69 Tocris
71 UMLS via Orphanet
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