MCID: PLN021
MIFTS: 32

Peeling Skin Syndrome 3

Categories: Genetic diseases, Skin diseases, Rare diseases

Aliases & Classifications for Peeling Skin Syndrome 3

MalaCards integrated aliases for Peeling Skin Syndrome 3:

Name: Peeling Skin Syndrome 3 54 24 71 29 69
Pss3 24 71
Non-Inflammatory Generalized Peeling Skin Syndrome Type a. 56
Non-Inflammatory Peeling Skin Syndrome Type a 56
Generalized Peeling Skin Syndrome Type a 56
Generalized Deciduous Skin Type a 56
Peeling Skin Syndrome Type a 56
Pss Type a 56

Characteristics:

Orphanet epidemiological data:

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

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
onset in second half of the first decade of life
one consanguineous pakistani family has been described (last curated march 2015)


HPO:

32
peeling skin syndrome 3:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 56  
Rare skin diseases


External Ids:

OMIM 54 616265
Orphanet 56 ORPHA263548
ICD10 via Orphanet 34 Q80.8
MedGen 40 CN228565
MeSH 42 D003873
SNOMED-CT via HPO 65 258211005

Summaries for Peeling Skin Syndrome 3

UniProtKB/Swiss-Prot : 71 Peeling skin syndrome 3: A form of peeling skin syndrome, 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. PSS3 is characterized by generalized white scaling occurring over the upper and lower extremities. Symptoms start during the second half of the first decade of life.

MalaCards based summary : Peeling Skin Syndrome 3, also known as pss3, is related to peeling skin syndrome 2 and generalized peeling skin syndrome, and has symptoms including white scaling skin An important gene associated with Peeling Skin Syndrome 3 is CHST8 (Carbohydrate Sulfotransferase 8). The drugs Dopamine and Methylphenidate have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and brain.

OMIM : 54
Peeling skin syndrome-3 is characterized by asymptomatic lifelong and continuous shedding of the stratum corneum of the epidermis. Symptoms start during the second half of the first decade of life and consist of generalized white scaling occurring over the upper and lower extremities (Cabral et al. (2012)). For a discussion of genetic heterogeneity of peeling skin syndrome, see PSS1 (270300). (616265)

Related Diseases for Peeling Skin Syndrome 3

Diseases in the Peeling Skin Syndrome family:

Peeling Skin Syndrome 4 Peeling Skin Syndrome 1
Peeling Skin Syndrome 2 Peeling Skin Syndrome 5
Peeling Skin Syndrome 3

Diseases related to Peeling Skin Syndrome 3 via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 peeling skin syndrome 2 11.1
2 generalized peeling skin syndrome 10.9
3 peeling skin syndrome 1 10.8
4 peeling skin syndrome 5 10.8

Symptoms & Phenotypes for Peeling Skin Syndrome 3

Symptoms via clinical synopsis from OMIM:

54

Skin Nails & Hair- Skin:
white scaling skin, most prominent over upper and lower extremities
no erythema
no pruritis

Skin Nails & Hair- Hair:
normal hair


Clinical features from OMIM:

616265

Human phenotypes related to Peeling Skin Syndrome 3:

32
id Description HPO Frequency HPO Source Accession
1 white scaling skin 32 HP:0040190

Drugs & Therapeutics for Peeling Skin Syndrome 3

Drugs for Peeling Skin Syndrome 3 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 755)
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
Methylphenidate Approved, Investigational Phase 4,Phase 3,Phase 2 113-45-1 4158
3
Gabapentin Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 60142-96-3 3446
4
Nitroglycerin Approved, Investigational Phase 4 55-63-0 4510
5
Lidocaine Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 137-58-6 3676
6
Menthol Approved Phase 4,Phase 3,Phase 2 2216-51-5 16666
7
Risperidone Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 106266-06-2 5073
8
Clonidine Approved Phase 4,Phase 3,Phase 2,Phase 1 4205-90-7 2803
9
Iron Approved Phase 4,Phase 3,Phase 2 7439-89-6 23925
10
Aspirin Approved, Vet_approved Phase 4,Phase 3,Phase 2 50-78-2 2244
11
Methylprednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2 83-43-2 6741
12
Prednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2 50-24-8 5755
13
Ephedrine Approved Phase 4,Phase 3,Phase 2 299-42-3 9294
14
Pseudoephedrine Approved Phase 4,Phase 3,Phase 2 90-82-4 7028
15
Pramipexole Approved, Investigational Phase 4,Phase 3,Phase 2 104632-26-0 59868 119570
16
Ethanol Approved Phase 4,Phase 2,Phase 3 64-17-5 702
17
Acetaminophen Approved Phase 4,Phase 3 103-90-2 1983
18
Histamine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 75614-87-8, 51-45-6 774
19
Sertraline Approved Phase 4,Phase 2 79617-96-2 68617
20
Acetylcholine Approved Phase 4,Phase 3,Phase 2 51-84-3 187
21
Donepezil Approved Phase 4,Phase 3 120014-06-4 3152
22
Pregabalin Approved, Illicit, Investigational Phase 4,Phase 3,Phase 2 148553-50-8 5486971
23
Bimatoprost Approved, Investigational Phase 4 155206-00-1 5311027
24
Latanoprost Approved, Investigational Phase 4 130209-82-4 5282380 5311221
25
Timolol Approved Phase 4,Phase 3 26839-75-8 33624 5478
26
Olanzapine Approved, Investigational Phase 4,Phase 3,Phase 2 132539-06-1 4585
27
Morphine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 57-27-2 5288826
28
Epinephrine Approved, Vet_approved Phase 4,Phase 1,Phase 2 51-43-4 5816
29 Racepinephrine Approved Phase 4,Phase 1,Phase 2
30
Paroxetine Approved, Investigational Phase 4,Phase 3 61869-08-7 43815
31
Norepinephrine Approved Phase 4,Phase 3,Phase 2 51-41-2 439260
32
Diazepam Approved, Illicit, Vet_approved Phase 4 439-14-5 3016
33
Lofexidine Approved, Investigational Phase 4,Phase 3,Phase 1 31036-80-3 30668
34
Trazodone Approved, Investigational Phase 4 19794-93-5 5533
35
Alverine Approved Phase 4 150-59-4 3678
36
Dexamethasone Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2 50-02-2 5743
37
Tobramycin Approved, Investigational Phase 4 32986-56-4 5496 36294
38
Ziprasidone Approved Phase 4,Phase 3,Phase 2 146939-27-7 60854
39
Ropinirole Approved, Investigational Phase 4,Phase 3,Phase 2 91374-20-8, 91374-21-9 5095 497540
40
Chlordiazepoxide Approved, Illicit Phase 4,Phase 3 58-25-3 2712
41
Heparin Approved, Investigational Phase 4,Phase 3 9005-49-6 772 46507594
42
Memantine Approved, Investigational Phase 4,Phase 2 19982-08-2 4054
43
Aripiprazole Approved, Investigational Phase 4,Phase 3,Phase 2 129722-12-9 60795
44
Guaifenesin Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 93-14-1 3516
45
Loperamide Approved Phase 4,Phase 2,Phase 3 53179-11-6 3955
46
Methadone Approved Phase 4,Phase 3,Phase 2,Phase 1 76-99-3 4095
47
Opium Approved, Illicit Phase 4 8008-60-4
48
Phenobarbital Approved Phase 4 50-06-6 4763
49
Glycerol Approved, Investigational Phase 4,Phase 3 56-81-5 753
50
Hyaluronic acid Approved, Vet_approved Phase 4,Phase 3,Phase 2 9004-61-9 53477741 24759

Interventional clinical trials:

(show top 50) (show all 1169)

id Name Status NCT ID Phase Drugs
1 Pain Relief In Irritable Bowel Syndrome Unknown status NCT02573844 Phase 4 Proklama
2 Effects of 'Seroquel-XR' on the Improvement of Neurocognitive Function in People At-risk Mental States(ARMS) Unknown status NCT01250847 Phase 4 Quetiapine(Seroquel-XR) 50~800mg a day
3 Event-related Potentials in Management of Children With Attention-deficit/Hyperactivity Disorder Unknown status NCT01130467 Phase 4 methylphenidate;Atomoxetine
4 Clinical Study to Evaluate the Efficacy of Anakinra in Patients With Rheumatoid Arthritis and Diabetes Unknown status NCT02236481 Phase 4 Anakinra;TNF alpha inhibitors
5 Effects of Gabapentin Enacarbil on Arousals, Heart Rate, Blood Pressure and PLMs in Restless Legs Syndrome Unknown status NCT02424695 Phase 4 Gabapentin Enacarbil (GEn);Placebo
6 Efficacy and Safety Study of Guanxin Shutong Capsule to Treat Chronic Stable Angina Unknown status NCT02280850 Phase 4 Guanxin Shutong Capsule;Placebo Capsule;nitroglycerine
7 Omega-3 Fatty Acids Efficacy in First-episode of Schizophrenia Unknown status NCT02210962 Phase 4
8 Gabapentin Enacarbil (GSK1838262) Adult Restless Leg Syndrome Post Marketing Commitment Study Completed NCT01668667 Phase 4 GSK1838262 600 mg;GSK1838262 450 mg;GSK1838262 300 mg;GSK1838262 Placebo match
9 24-Hour Intraocular Pressure Control With Bimatoprost/Timolol Versus Latanoprost as First Choice Completed NCT01448837 Phase 4 Bimatoprost/Timolol, 24-hour intraocular pressure monitoring;Latanoprost, 24-hour intraocular pressure monitoring
10 Treatment of Myofascial Pain Syndrome With Lidocaine Injection and Physical Therapy. Completed NCT01250184 Phase 4 Lidocaine injection
11 Symptomatic Remission and Social Function in Participants Treated With Paliperidone Extended Release (ER) Completed NCT01577186 Phase 4 Paliperidone ER
12 Efficacy and Safety of SEROQUEL Extended Release (XR) in Acute Schizophrenia Completed NCT00954122 Phase 4 Quetiapine XR (Seroquel XR)
13 Radio-frequency (RF)-Based Plasma Micro-tenotomy for the Treatment of Shoulder Impingement Syndrome Completed NCT01554670 Phase 4
14 Low Level Laser Therapy Associated With Exercise in Subacromial Impingement Syndrome Completed NCT02725749 Phase 4
15 Efficacy Study of Early Onset of Antipsychotic Drug Action in Schizophrenia Completed NCT00337662 Phase 4 olanzapine;risperidone;risperidone
16 A Study of Quetiapine Fumarate Sustained Release in Major Depression With Comorbid Fibromyalgia Syndrome Completed NCT00675896 Phase 4 Quetiapine Fumarate Sustained Release;Placebo
17 NAS Treatment - Opiate Versus Non-Opiate Completed NCT01734551 Phase 4 Morphine;Clonidine
18 Restless Legs Syndrome With Iron Deficiency or Anaemia in the 3rd Trimester of Pregnancy Completed NCT01245777 Phase 4 ferric carboxymaltose
19 Length of Post Operative Dressing After Carpal Tunnel Release Completed NCT01310218 Phase 4
20 Platelet Hyperreactivity to Aspirin and Stroke Completed NCT00766896 Phase 4 Aspirin (platelet sensitive versus platelet hyperreactivity)
21 Therapeutic Effects Analysis of Pudendal Nerve Infiltrations After 3 Months, in Patients Suffering of Pudendal Neuralgia Completed NCT00851513 Phase 4 Lidocaine;Depmedrol
22 Paroxetine-CR (Paxil-CR) in the Treatment of Patients With Fibromyalgia Syndrome Completed NCT00610610 Phase 4 Paroxetine CR;Placebo
23 Different Safety Profile of Risperidone and Paliperidone Extended-release Completed NCT01284959 Phase 4 risperidone;paliperidone ER;placebo
24 Use of Sildenafil (Viagra) to Alter Fatigue, Functional Status and Impaired Cerebral Blood Flow in Patients With CFS Completed NCT00598585 Phase 4 Sildenafil (Viagra);Placebo
25 An Open-Label Trial of Duloxetine for the Treatment of Irritable Bowel Syndrome Completed NCT00401258 Phase 4 duloxetine
26 Conventional Radiofrequency, Pulse Radiofrequency, and TENS for Lumbar Facet Joint Pain Completed NCT02942147 Phase 4
27 Determination of Sensitive Skin and Its Biophysical Response in a Latin-American Population Completed NCT01591993 Phase 4
28 Lofexidine for Inpatient Opiate Detox in Singapore Completed NCT01675648 Phase 4 Lofexidine;Diazepam;Placebo for Lofexidine;Placebo for Diazepam
29 Treatment of Neuroleptic Induced Acute Akathisia With Trazodone Completed NCT00659919 Phase 4 Placebo;Trazodone
30 Management of Irritable Bowel Syndrome in Primary Care (MIBS Trial) Completed NCT00934973 Phase 4 mebeverine;methylcellulose;placebo
31 Bromfenac to Reduce Inflammation in Patients With Pseudoexfoliation Syndrome After Cataract Surgery Completed NCT02137161 Phase 4 Dexamethasone+Tobramycin eye drop;Bromfenac eye drop
32 A Study of the Efficacy and Safety of Intramuscular Ziprasidone Followed by Oral Ziprasidone for the Treatment of Psychosis Completed NCT00644800 Phase 4 Ziprasidone
33 Effects of Neupro on Cardiovascular Observations in Patients With Restless Legs Syndrome Completed NCT01455012 Phase 4 Rotigotine;Placebo
34 A Study to Evaluate Participants Satisfaction, Quality of Life and Effectiveness of Flexible-Dose of Paliperidone Extended Release (ER) in Participants With Schizophrenia, Previously Treated With Risperidone Completed NCT01010776 Phase 4 Paliperidone Extended Release (ER)
35 Paliperidone Extended Release in Schizophrenia Participants With Duration of Illness Less Than 10 Years Completed NCT01362439 Phase 4 Paliperidone ER
36 An Efficacy, Safety And Tolerability Study of Flexibly Dosed Paliperidone Extended-Release (ER) in Participants With Schizophrenia Completed NCT00757705 Phase 4 Paliperidone ER
37 Tolerability, Safety and Efficacy of Flexibly Dosed Paliperidone ER in Patients With Schizophrenia Completed NCT01724359 Phase 4 Paliperidone ER
38 Switching From Oral Dopamine Agonists to Rotigotine Completed NCT01976871 Phase 4 Rotigotine
39 Gabapentin vs Chlordiazepoxide for Ambulatory Alcohol Withdrawal Completed NCT01573052 Phase 4 Chlordiazepoxide;Gabapentin
40 Paliperidone Extended Release(ER) Effectiveness Study to Evaluate the Objective Symptom Change and Symptomatic Remission Completed NCT00761579 Phase 4 Paliperidone
41 Aqueous Flare of a Hydrophobic Acrylic Single-piece Open-loop IOL With Modified Material Surface Properties Completed NCT01767012 Phase 4
42 Efficacy and Safety of Memantine Hydrochloride in Enhancing the Cognitive Abilities of Young Adults With Down Syndrome Completed NCT01112683 Phase 4 Memantine;Placebo
43 Open Label Trial of Aripiprazole in Children and Adolescents With Tourette's Disorder Completed NCT00241176 Phase 4 Aripiprazole
44 Treatment of Neonatal Abstinence Syndrome Completed NCT01723722 Phase 4 Methadone;Diluted Deodorized Tincture of Opium
45 High Frequency Stimulation Trials in Patients With Precision Spinal Cord Stimulator System Completed NCT02265848 Phase 4
46 Ethyl-Eicosapentaenoic Acid and Tardive Dyskinesia Completed NCT00114595 Phase 4 eicosapentaenoic acid
47 A Safety and Efficacy Study of OPTIVE FUSION™ With VISMED® Multi for the Management of Dry Eye Completed NCT02117687 Phase 4 carboxymethylcellulose 0.5%/glycerin 0.9%;sodium hyaluronate 0.18%
48 Effectiveness of Ziprasidone for Patients With Schizophrenia Completed NCT01198353 Phase 4 Ziprasidone
49 An Efficacy Study of Combination of Tramadol and Acetaminophen Tablets in the Treatment of Participants With Fibromyalgia Pain Completed NCT00766675 Phase 4 Tramadol hydrochloride;Acetaminophen
50 Paliperidone Extended-Release (ER) Versus Risperidone for Neurocognitive Function in Patients With Schizophrenia Completed NCT00827840 Phase 4 Paliperidone ER;Risperidone

Search NIH Clinical Center for Peeling Skin Syndrome 3

Genetic Tests for Peeling Skin Syndrome 3

Genetic tests related to Peeling Skin Syndrome 3:

id Genetic test Affiliating Genes
1 Peeling Skin Syndrome 3 29 24 CHST8

Anatomical Context for Peeling Skin Syndrome 3

MalaCards organs/tissues related to Peeling Skin Syndrome 3:

39
Skin, Eye, Brain, Heart, Bone, Prostate, Spinal Cord

Publications for Peeling Skin Syndrome 3

Variations for Peeling Skin Syndrome 3

UniProtKB/Swiss-Prot genetic disease variations for Peeling Skin Syndrome 3:

71
id Symbol AA change Variation ID SNP ID
1 CHST8 p.Arg77Trp VAR_067723 rs149660944

ClinVar genetic disease variations for Peeling Skin Syndrome 3:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 CHST8 NM_001127895.1(CHST8): c.229C> T (p.Arg77Trp) single nucleotide variant Pathogenic rs149660944 GRCh38 Chromosome 19, 33772017: 33772017

Expression for Peeling Skin Syndrome 3

Search GEO for disease gene expression data for Peeling Skin Syndrome 3.

Pathways for Peeling Skin Syndrome 3

GO Terms for Peeling Skin Syndrome 3

Sources for Peeling Skin Syndrome 3

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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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