PSS1
MCID: PLN017
MIFTS: 34

Peeling Skin Syndrome 1 (PSS1) malady

Categories: Genetic diseases, Skin diseases, Rare diseases

Aliases & Classifications for Peeling Skin Syndrome 1

Aliases & Descriptions for Peeling Skin Syndrome 1:

Name: Peeling Skin Syndrome 1 54 66 69
Peeling Skin Syndrome Type B 56 66
Skin Peeling Familial Continuous Generalized 66
Generalized Peeling Skin Syndrome Type B 56
Inflammatory Peeling Skin Syndrome 56
Keratolysis Exfoliativa Congenita 66
Generalized Deciduous Skin Type B 56
Peeling Skin Syndrome 69
Deciduous Skin 66
Pss Type B 56
Pss1 66

Characteristics:

Orphanet epidemiological data:

56
peeling skin syndrome type b
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

HPO:

32
peeling skin syndrome 1:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:

Orphanet: 56  
Rare skin diseases


External Ids:

OMIM 54 270300
Orphanet 56 ORPHA263553
ICD10 via Orphanet 34 Q80.8
MedGen 40 C1849193
MeSH 42 D003873

Summaries for Peeling Skin Syndrome 1

OMIM : 54 Peeling skin syndrome is a rare genodermatosis with variable age of onset from birth to adulthood. Clinically, it is... (270300) more...

MalaCards based summary : Peeling Skin Syndrome 1, also known as peeling skin syndrome type b, is related to peeling skin syndrome and peeling skin syndrome 2, and has symptoms including pruritus, short stature and abnormality of metabolism/homeostasis. An important gene associated with Peeling Skin Syndrome 1 is CDSN (Corneodesmosin), and among its related pathways/superpathways are Developmental Biology and Keratinization. The drugs Dopamine and Risperidone have been mentioned in the context of this disorder. Affiliated tissues include skin.

UniProtKB/Swiss-Prot : 66 Peeling skin syndrome 1: A genodermatosis characterized by generalized, continuous shedding of the outer layers of the epidermis. Two main PSS subtypes have been suggested. Patients with non-inflammatory PSS (type A) manifest white scaling, with painless and easy removal of the skin, irritation when in contact with water, dust and sand, and no history of erythema, pruritis or atopy. Inflammatory PSS (type B) is associated with generalized erythema, pruritus and atopy. It is an ichthyosiform erythroderma characterized by lifelong patchy peeling of the entire skin with onset at birth or shortly after. Several patients have been reported with high IgE levels.

Related Diseases for Peeling Skin Syndrome 1

Diseases in the Peeling Skin Syndrome family:

Peeling Skin Syndrome 1 Peeling Skin Syndrome 2
Peeling Skin Syndrome 3

Diseases related to Peeling Skin Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 peeling skin syndrome 11.1
2 peeling skin syndrome 2 10.8
3 peeling skin syndrome 3 10.8
4 omodysplasia 9.8 CDSN TGM5
5 complement factor b deficiency 9.7 CDSN TGM5

Graphical network of the top 20 diseases related to Peeling Skin Syndrome 1:



Diseases related to Peeling Skin Syndrome 1

Symptoms & Phenotypes for Peeling Skin Syndrome 1

Symptoms by clinical synopsis from OMIM:

270300

Clinical features from OMIM:

270300

Human phenotypes related to Peeling Skin Syndrome 1:

32 (show all 9)
id Description HPO Frequency HPO Source Accession
1 pruritus 32 HP:0000989
2 short stature 32 HP:0004322
3 abnormality of metabolism/homeostasis 32 HP:0001939
4 asthma 32 HP:0002099
5 erythema 32 HP:0010783
6 increased ige level 32 HP:0003212
7 onycholysis 32 HP:0001806
8 brittle hair 32 HP:0002299
9 scaling skin 32 HP:0040189

Drugs & Therapeutics for Peeling Skin Syndrome 1

Drugs for Peeling Skin Syndrome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 854)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 4,Phase 3,Phase 2,Phase 1 51-61-6, 62-31-7 681
2
Risperidone Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 106266-06-2 5073
3
Zolpidem Approved Phase 4 82626-48-0 5732
4 Zotepine Approved Phase 4 26615-21-4
5
Gabapentin Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 60142-96-3 3446
6
Donepezil Approved Phase 4,Phase 3,Phase 2 120014-06-4 3152
7
Nitroglycerin Approved, Investigational Phase 4 55-63-0 4510
8
Latanoprost Approved, Investigational Phase 4 130209-82-4 5282380 5311221
9
Timolol Approved Phase 4 26839-75-8 33624 5478
10
Haloperidol Approved Phase 4,Phase 3,Phase 2,Phase 1 52-86-8 3559
11
Histamine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 75614-87-8, 51-45-6 774
12
Menthol Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 2216-51-5 16666
13
Citalopram Approved Phase 4,Phase 3,Phase 2 59729-33-8 2771
14
Aspirin Approved, Vet_approved Phase 4,Phase 2,Phase 3,Early Phase 1 50-78-2 2244
15
Epinephrine Approved, Vet_approved Phase 4,Phase 1,Phase 2 51-43-4 5816
16
Ephedrine Approved Phase 4,Phase 3,Phase 2,Phase 1 299-42-3 9294
17
Pseudoephedrine Approved Phase 4,Phase 3,Phase 2,Phase 1 90-82-4 7028
18
Aripiprazole Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 129722-12-9 60795
19
Methylphenidate Approved, Investigational Phase 4,Phase 2 113-45-1 4158
20
Memantine Approved, Investigational Phase 4,Phase 2 19982-08-2 4054
21
Acetaminophen Approved Phase 4,Phase 3,Phase 2 103-90-2 1983
22
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 22916-47-8 4189
23
Interferon beta-1b Approved Phase 4,Phase 2,Phase 3 145155-23-3
24
Pregabalin Approved, Illicit, Investigational Phase 4,Phase 3,Phase 2,Phase 1 148553-50-8 5486971
25
Oxymetazoline Approved Phase 4,Phase 3,Phase 2,Phase 1 1491-59-4 4636
26
Phenylephrine Approved Phase 4,Phase 3,Phase 2,Phase 1 59-42-7 6041
27
Zinc Approved Phase 4,Phase 2 7440-66-6 32051 23994
28
Cocaine Approved, Illicit Phase 4,Phase 2,Phase 1 50-36-2 5760 446220
29
Emtricitabine Approved, Investigational Phase 4,Phase 3,Phase 2 143491-57-0 60877
30
Tenofovir Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 147127-20-6 464205
31
Methylprednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2 83-43-2 6741
32
Prednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2 50-24-8 5755
33
Guaifenesin Approved, Vet_approved Phase 4,Phase 2,Phase 1 93-14-1 3516
34
Loperamide Approved Phase 4,Phase 2,Phase 3 53179-11-6 3955
35
Methadone Approved Phase 4,Phase 3,Phase 2,Phase 1 76-99-3 4095
36
Morphine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 57-27-2 5288826
37
Opium Approved, Illicit Phase 4 8008-60-4
38
Phenobarbital Approved Phase 4 50-06-6 4763
39
Bimatoprost Approved, Investigational Phase 4 155206-00-1 5311027
40
Riluzole Approved, Investigational Phase 4,Phase 3 1744-22-5 5070
41
Norepinephrine Approved Phase 4,Phase 3,Phase 2,Phase 1 51-41-2 439260
42
Olanzapine Approved, Investigational Phase 4,Phase 3,Phase 2 132539-06-1 4585
43
Paroxetine Approved, Investigational Phase 4,Phase 1,Phase 2 61869-08-7 43815
44
Cinnarizine Approved Phase 4 298-57-7 2761 1547484
45
Diazepam Approved, Illicit, Vet_approved Phase 4 439-14-5 3016
46
Methamphetamine Approved, Illicit Phase 4 537-46-2 10836
47
Milnacipran Approved Phase 4,Phase 3,Phase 2 92623-85-3 65833
48
Asenapine Approved Phase 4,Phase 3 85650-56-2, 65576-45-6 3001386
49
Pramipexole Approved, Investigational Phase 4,Phase 3,Phase 2 104632-26-0 59868 119570
50
Ropinirole Approved, Investigational Phase 4,Phase 3,Phase 2 91374-20-8, 91374-21-9 5095 497540

Interventional clinical trials:

(show top 50) (show all 1572)
id Name Status NCT ID Phase
1 Saccharomyces Boulardii in Diarrhea Dominant Irritable Bowel Syndrome Unknown status NCT00543478 Phase 4
2 Risperidone and Zotepine in the Treatment of Delirium Unknown status NCT00622011 Phase 4
3 A Clinical Trial of Danhong Injection in Treating Acute Ischemic Stroke Unknown status NCT02152280 Phase 4
4 Clinical Study to Evaluate the Efficacy of Anakinra in Patients With Rheumatoid Arthritis and Diabetes Unknown status NCT02236481 Phase 4
5 Effects of Gabapentin Enacarbil on Arousals, Heart Rate, Blood Pressure and PLMs in Restless Legs Syndrome Unknown status NCT02424695 Phase 4
6 Donepezil Treatment for Sleep Apnea Patients Unknown status NCT00912457 Phase 4
7 Efficacy and Safety Study of Guanxin Shutong Capsule to Treat Chronic Stable Angina Unknown status NCT02280850 Phase 4
8 Treatment of Neonatal Abstinence Syndrome Completed NCT01723722 Phase 4
9 24-Hour Intraocular Pressure Control With Bimatoprost/Timolol Versus Latanoprost as First Choice Completed NCT01448837 Phase 4
10 A Study of Quetiapine Fumarate Sustained Release in Major Depression With Comorbid Fibromyalgia Syndrome Completed NCT00675896 Phase 4
11 Developing New Treatments for Tourette Syndrome: Therapeutic Trials With Modulators of Glutamatergic Neurotransmission Completed NCT01018056 Phase 4
12 Open Trial of Duloxetine in Outpatients With Irritable Bowel Syndrome Symptoms and Co-Morbid Major Depression Completed NCT01754493 Phase 4
13 Low Level Laser Therapy Associated With Exercise in Subacromial Impingement Syndrome Completed NCT02725749 Phase 4
14 Efficacy Study of Early Onset of Antipsychotic Drug Action in Schizophrenia Completed NCT00337662 Phase 4
15 A Study of Paliperidone Palmitate in Patients With Schizophrenia Previously Unsuccessfully Treated by Oral Antipsychotics Completed NCT01685931 Phase 4
16 Short and Long Term Exposure to Unique, Time-Varying Pulsed Electro-Magnetic Fields in Refractory Carpal Tunnel Syndrome Completed NCT00277563 Phase 4
17 Paroxetine-CR (Paxil-CR) in the Treatment of Patients With Fibromyalgia Syndrome Completed NCT00610610 Phase 4
18 Therapeutic Effect of Quetiapine on Methamphetamine-Induced Psychosis Completed NCT01939093 Phase 4
19 Radio-frequency (RF)-Based Plasma Micro-tenotomy for the Treatment of Shoulder Impingement Syndrome Completed NCT01554670 Phase 4
20 Effects of Neupro on Cardiovascular Observations in Patients With Restless Legs Syndrome Completed NCT01455012 Phase 4
21 Escitalopram in Depressive Patients With Acute Coronary Artery Syndrome Completed NCT00419471 Phase 4
22 Pregnenolone Augmentation in the Treatment of Patients With Recent-Onset Schizophrenia Completed NCT00847600 Phase 4
23 Platelet Hyperreactivity to Aspirin and Stroke Completed NCT00766896 Phase 4
24 Length of Post Operative Dressing After Carpal Tunnel Release Completed NCT01310218 Phase 4
25 Conventional Radiofrequency, Pulse Radiofrequency, and TENS for Lumbar Facet Joint Pain Completed NCT02942147 Phase 4
26 An Open-Label Trial of Duloxetine for the Treatment of Irritable Bowel Syndrome Completed NCT00401258 Phase 4
27 Milnacipran in Autism and the Functional Locus Coeruleus and Noradrenergic Model of Autism Completed NCT01337700 Phase 4
28 Treating Acutely Agitated Patients With Asenapine Sublingual Tablets Completed NCT01400113 Phase 4
29 Switching From Oral Dopamine Agonists to Rotigotine Completed NCT01976871 Phase 4
30 Effectiveness of Vitamin Supplementation in Treating People With Residual Symptoms of Schizophrenia Completed NCT00611806 Phase 4
31 Bromfenac to Reduce Inflammation in Patients With Pseudoexfoliation Syndrome After Cataract Surgery Completed NCT02137161 Phase 4
32 Effectiveness of Rebif® in Clinically Isolated Syndrome and Relapsing Multiple Sclerosis Using RebiSmart™ (PROCEED) Completed NCT02254304 Phase 4
33 Study of the Efficacy and Safety of Quetiapine Fumarate Extended Release (Seroquel XR) Completed NCT00779506 Phase 4
34 Efficacy and Safety of Lisdexamfetamine Dimesylate in Adults With Chronic Fatigue Syndrome Completed NCT01071044 Phase 4
35 A Double Blind Study Comparing Hyaluronic Acid, Corticosteroid and Placebo During Arthrocentesis for Temporomandibular Joint (TMJ) Dysfunction Completed NCT01524913 Phase 4
36 Long-term Study Of Ropinirole In Restless Legs Syndrome Completed NCT00329602 Phase 4
37 A Study of the Efficacy and Safety of Intramuscular Ziprasidone Followed by Oral Ziprasidone for the Treatment of Psychosis Completed NCT00644800 Phase 4
38 Comparison of Antipsychotics for Metabolic Problems in Schizophrenia or Schizoaffective Disorder Completed NCT00423878 Phase 4
39 Efficacy and Safety of SEROQUEL Extended Release (XR) in Acute Schizophrenia Completed NCT00954122 Phase 4
40 Guanfacine in Children With Tic Disorders Completed NCT01547000 Phase 4
41 Effectiveness of Pimozide in Augmenting the Effects of Clozapine in the Treatment of Schizophrenia Completed NCT00158223 Phase 4
42 Mesalazine for the Treatment of Diarrhoea-predominant Irritable Bowel Syndrome (IBS-D) Completed NCT01316718 Phase 4
43 Olanzapine Versus Aripiprazole in the Treatment of Acutely Ill Patients With Schizophrenia Completed NCT00103571 Phase 4
44 Paliperidone Extended-Release (ER) Versus Risperidone for Neurocognitive Function in Patients With Schizophrenia Completed NCT00827840 Phase 4
45 Lofexidine for Inpatient Opiate Detox in Singapore Completed NCT01675648 Phase 4
46 A Study to Evaluate the Effectiveness and Safety of Paliperidone Palmitate in Subjects With Acute Schizophrenia Completed NCT01527305 Phase 4
47 NF1-Attention: Study of Children With Neurofibromatosis Type 1 Treated by Methylphenidate Completed NCT00169611 Phase 4
48 Restless Legs Syndrome With Iron Deficiency or Anaemia in the 3rd Trimester of Pregnancy Completed NCT01245777 Phase 4
49 A Study of Rebif® in Subjects With Relapsing Multiple Sclerosis Completed NCT02064816 Phase 4
50 SWITCH:Restless Legs Patients Switched to Ropinirole From Pramipexole Completed NCT00344994 Phase 4

Search NIH Clinical Center for Peeling Skin Syndrome 1

Genetic Tests for Peeling Skin Syndrome 1

Anatomical Context for Peeling Skin Syndrome 1

MalaCards organs/tissues related to Peeling Skin Syndrome 1:

39
Skin

Publications for Peeling Skin Syndrome 1

Variations for Peeling Skin Syndrome 1

ClinVar genetic disease variations for Peeling Skin Syndrome 1:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 TGM5 NM_201631.3(TGM5): c.337G> T (p.Gly113Cys) single nucleotide variant Pathogenic rs112292549 GRCh37 Chromosome 15, 43552349: 43552349
2 CDSN NM_001264.4(CDSN): c.175A> T (p.Lys59Ter) single nucleotide variant Pathogenic rs387906841 GRCh37 Chromosome 6, 31085217: 31085217
3 CDSN NM_001264.4(CDSN): c.746delG (p.Gly249Valfs) deletion Pathogenic rs672601343 GRCh37 Chromosome 6, 31084646: 31084646
4 CDSN NM_001264.4(CDSN): c.164_167dupGCCT (p.Thr57Profs) duplication Pathogenic rs606231274 GRCh38 Chromosome 6, 31117448: 31117451
5 CDSN NM_001264.4(CDSN): c.424G> T (p.Gly142Ter) single nucleotide variant Pathogenic rs606231275 GRCh38 Chromosome 6, 31117191: 31117191

Expression for Peeling Skin Syndrome 1

Search GEO for disease gene expression data for Peeling Skin Syndrome 1.

Pathways for Peeling Skin Syndrome 1

Pathways related to Peeling Skin Syndrome 1 according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.17 CDSN TGM5
2
Show member pathways
11.08 CDSN TGM5

GO Terms for Peeling Skin Syndrome 1

Biological processes related to Peeling Skin Syndrome 1 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cornification GO:0070268 8.96 CDSN TGM5
2 epidermis development GO:0008544 8.62 CDSN TGM5

Sources for Peeling Skin Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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