MCID: PLN018
MIFTS: 43

Peeling Skin Syndrome 2

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Peeling Skin Syndrome 2

MalaCards integrated aliases for Peeling Skin Syndrome 2:

Name: Peeling Skin Syndrome 2 54 24 71
Peeling Skin Syndrome, Acral Type 24 25 71 29 13 69
Acral Peeling Skin Syndrome 50 25 56 71
Localized Deciduous Skin 50 56
Acral Deciduous Skin 50 56
Localized Pss 50 56
Acral Pss 50 56
Pss2 24 71
Apss 25 71
Peeling Skin Syndrome Type a 71

Characteristics:

Orphanet epidemiological data:

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

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
skin peeling exacerbated by heat, friction, and humidity
see also more severe phenotype peeling skin syndrome


HPO:

32
peeling skin syndrome 2:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 56  
Rare skin diseases


Summaries for Peeling Skin Syndrome 2

NIH Rare Diseases : 50 acral peeling skin syndrome is a genetic skin disorder characterized by painless peeling of the top layer of skin. "acral" refers to the fact that the peeling is most apparent on the hands and feet, although peeling may also occur on the arms and legs. the peeling is usually present from birth, but can appear later in childhood or early adulthood. acral peeling skin syndrome can be caused by mutations in the tgm5 gene. mutations in the csta gene have also been linked to this condition. it is inherited in an autosomal recessive pattern. there is no cure for acral peeling skin syndrome. treatment is aimed at treating the symptoms present in each individual. last updated: 4/14/2016

MalaCards based summary : Peeling Skin Syndrome 2, also known as peeling skin syndrome, acral type, is related to peeling skin syndrome and peeling skin syndrome 3, and has symptoms including ichthyosis, skin erosion and eczema. An important gene associated with Peeling Skin Syndrome 2 is TGM5 (Transglutaminase 5), 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, eye and brain.

Genetics Home Reference : 25 Acral peeling skin syndrome is a skin disorder characterized by painless peeling of the top layer of skin. The term "acral" refers to the fact that the skin peeling in this condition is most apparent on the hands and feet. Occasionally, peeling also occurs on the arms and legs. The peeling is usually evident from birth, although the condition can also begin in childhood or later in life. Skin peeling is made worse by exposure to heat, humidity and other forms of moisture, and friction. The underlying skin may be temporarily red and itchy, but it typically heals without scarring. Acral peeling skin syndrome is not associated with any other health problems.

OMIM : 54
Peeling skin syndrome (PSS) is an autosomal recessive genodermatosis characterized by the shedding of the outer epidermis. In an acral form of the disorder (PSS2), the dorsa of the hands and feet are predominantly affected, and ultrastructural analysis shows separation at the junction between the granular cells and the stratum corneum in the outer epidermis (summary by Cassidy et al., 2005). For a discussion of genetic heterogeneity of peeling skin syndrome, see PSS1 (270300). (609796)

UniProtKB/Swiss-Prot : 71 Peeling skin syndrome 2: A non-inflammatory and localized form of peeling skin syndrome, a genodermatosis characterized by the continuous shedding of the outer layers of the epidermis. In PSS2 patients, skin peeling is painless and strictly limited to the dorsa of the hands and feet. It is accompanied by painless erythema and spontaneous non-scarring healing. Ultrastructural and histological analysis shows a level of blistering high in the epidermis at the stratum granulosum-stratum corneum junction.

Related Diseases for Peeling Skin Syndrome 2

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 2 via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 peeling skin syndrome 11.4
2 peeling skin syndrome 3 11.4
3 autoimmune polyendocrine syndrome 11.1
4 epidermolysis bullosa 10.0
5 epidermolysis bullosa simplex 10.0
6 combined oxidative phosphorylation deficiency 9.5 CSTA TGM5
7 spinocerebellar ataxia 11 9.2 CSTA TGM5

Graphical network of the top 20 diseases related to Peeling Skin Syndrome 2:



Diseases related to Peeling Skin Syndrome 2

Symptoms & Phenotypes for Peeling Skin Syndrome 2

Symptoms via clinical synopsis from OMIM:

54

Skin Nails & Hair- Nails:
normal nails

Skin Nails & Hair- Skin Histology:
blistering at junction of stratum granulosum and stratum corneum

Skin Nails & Hair- Skin:
superficial skin peeling (limited to dorsa of hands and feet)
erythema, residual painless
spontaneous, non-scarring healing


Clinical features from OMIM:

609796

Human phenotypes related to Peeling Skin Syndrome 2:

56 32 (show all 12)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ichthyosis 56 32 frequent (33%) Frequent (79-30%) HP:0008064
2 skin erosion 56 32 occasional (7.5%) Occasional (29-5%) HP:0200041
3 eczema 56 32 frequent (33%) Frequent (79-30%) HP:0000964
4 erythema 56 32 frequent (33%) Frequent (79-30%) HP:0010783
5 scaling skin 56 32 frequent (33%) Frequent (79-30%) HP:0040189
6 abnormal blistering of the skin 56 32 frequent (33%) Frequent (79-30%) HP:0008066
7 macule 56 32 occasional (7.5%) Occasional (29-5%) HP:0012733
8 high-grade hypermetropia 56 32 frequent (33%) Frequent (79-30%) HP:0008499
9 papule 56 32 occasional (7.5%) Occasional (29-5%) HP:0200034
10 hyperpigmentation of the skin 56 32 occasional (7.5%) Occasional (29-5%) HP:0000953
11 allergy 56 32 frequent (33%) Frequent (79-30%) HP:0012393
12 excessive wrinkling of palmar skin 56 32 occasional (7.5%) Occasional (29-5%) HP:0007605

Drugs & Therapeutics for Peeling Skin Syndrome 2

Drugs for Peeling Skin Syndrome 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 860)
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
Aripiprazole Approved, Investigational Phase 4,Phase 2,Phase 3 129722-12-9 60795
6
Clonidine Approved Phase 4,Phase 3,Phase 2,Phase 1 4205-90-7 2803
7
Famotidine Approved Phase 4,Phase 2,Phase 3 76824-35-6 3325
8
Histamine Approved, Investigational Phase 4,Phase 2,Phase 3 75614-87-8, 51-45-6 774
9
Menthol Approved Phase 4,Phase 3,Phase 2 2216-51-5 16666
10
Minocycline Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2 10118-90-8 5281021
11
Epinephrine Approved, Vet_approved Phase 4,Phase 1,Phase 2 51-43-4 5816
12 Racepinephrine Approved Phase 4,Phase 1,Phase 2
13
Ropinirole Approved, Investigational Phase 4,Phase 3,Phase 2 91374-20-8, 91374-21-9 5095 497540
14
Sertraline Approved Phase 4,Phase 1,Phase 2 79617-96-2 68617
15
Haloperidol Approved Phase 4,Phase 3,Phase 2,Phase 1 52-86-8 3559
16
Methylphenidate Approved, Investigational Phase 4,Phase 2,Phase 3 113-45-1 4158
17
Dexmedetomidine Approved, Vet_approved Phase 4,Phase 3,Phase 2 76631-46-4, 113775-47-6 68602 5311068 56032
18
Pregabalin Approved, Illicit, Investigational Phase 4,Phase 3,Phase 2,Phase 1 148553-50-8 5486971
19
Metoclopramide Approved, Investigational Phase 4 364-62-5 4168
20
Lidocaine Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 137-58-6 3676
21
Methylprednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2 83-43-2 6741
22
Prednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2 50-24-8 5755
23
Donepezil Approved Phase 4,Phase 3,Phase 2 120014-06-4 3152
24
Amitriptyline Approved Phase 4,Phase 2,Phase 3,Phase 1 50-48-6 2160
25
Perphenazine Approved Phase 4,Phase 2,Phase 3,Phase 1 58-39-9 4748
26
Guaifenesin Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 93-14-1 3516
27
Loperamide Approved Phase 4,Phase 2,Phase 3 53179-11-6 3955
28
Methadone Approved Phase 4,Phase 3,Phase 2,Phase 1 76-99-3 4095
29
Morphine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 57-27-2 5288826
30
Opium Approved, Illicit Phase 4 8008-60-4
31
Phenobarbital Approved Phase 4 50-06-6 4763
32
Riluzole Approved, Investigational Phase 4 1744-22-5 5070
33
Diazepam Approved, Illicit, Vet_approved Phase 4 439-14-5 3016
34
Lofexidine Approved, Investigational Phase 4,Phase 3,Phase 1 31036-80-3 30668
35
Norepinephrine Approved Phase 4,Phase 2,Phase 3,Phase 1 51-41-2 439260
36
Paroxetine Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2 61869-08-7 43815
37
Olanzapine Approved, Investigational Phase 4,Phase 3,Phase 2 132539-06-1 4585
38
Citalopram Approved Phase 4,Phase 3,Phase 2 59729-33-8 2771
39
Clozapine Approved Phase 4,Phase 2,Phase 3 5786-21-0 2818
40
Sulpiride Approved Phase 4 15676-16-1 5355
41
Aspirin Approved, Vet_approved Phase 4,Phase 2,Phase 3 50-78-2 2244
42
Nitroglycerin Approved, Investigational Phase 4 55-63-0 4510
43
Pravastatin Approved Phase 4 81093-37-0 54687
44
Fluoxetine Approved, Vet_approved Phase 4,Phase 2,Phase 1 54910-89-3 3386
45
Fluvoxamine Approved, Investigational Phase 4,Phase 3 54739-18-3 3404 5324346
46
Pramipexole Approved, Investigational Phase 4,Phase 3,Phase 2 104632-26-0 59868 119570
47
Hydroxocobalamin Approved Phase 4 13422-51-0 11953898 5460373 44475014
48
Armodafinil Approved, Investigational Phase 4,Phase 3,Phase 2 112111-43-0
49
Modafinil Approved, Investigational Phase 4,Phase 3,Phase 2 68693-11-8 4236
50
Pimozide Approved Phase 4 2062-78-4 16362

Interventional clinical trials:

(show top 50) (show all 1395)

id Name Status NCT ID Phase Drugs
1 Saccharomyces Boulardii in Diarrhea Dominant Irritable Bowel Syndrome Unknown status NCT00543478 Phase 4 Saccharomyces boulardii;Methyl cellulose powder (low viscosity)
2 Pain Relief In Irritable Bowel Syndrome Unknown status NCT02573844 Phase 4 Proklama
3 Myoinositol for the Treatment of Ovarian and Psychiatric Disorder in Polycystic Ovary Syndrome (PCOS) Patients Unknown status NCT01246310 Phase 4
4 A Clinical Trial of Danhong Injection in Treating Acute Ischemic Stroke Unknown status NCT02152280 Phase 4 Danhong Injection;Normal Saline
5 Clinical Study to Evaluate the Efficacy of Anakinra in Patients With Rheumatoid Arthritis and Diabetes Unknown status NCT02236481 Phase 4 Anakinra;TNF alpha inhibitors
6 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
7 Risperidone and Zotepine in the Treatment of Delirium Unknown status NCT00622011 Phase 4 Risperidone and Zolpidem for delirium
8 Efficacy of a Pacemaker Algorithm in Promotion of the Intrinsic Heart Activity. Unknown status NCT00156741 Phase 4
9 Tolerance and Effect of Antipsychotics in Children and Adolescents With Psychosis Unknown status NCT01119014 Phase 4 Aripiprazole;Quetiapine
10 Efficacy Study of Pentosan Polysulfate Sodium,Hydrodistension and Combination Therapy for Bladder Pain Syndrome Unknown status NCT01895153 Phase 4
11 Study of Clonidine on Sleep Architecture in Children With Tourette's Syndrome (TS) and Comorbid ADHD Unknown status NCT00152750 Phase 4 APO-clonidine
12 Evaluation of the Effects of Laying Early a Gastric Band on the Prevention of Morbid Obesity Randomized Checked Against Standard Management of Obesity in This Population. Unknown status NCT01700738 Phase 4
13 A Study of Quetiapine Fumarate Sustained Release in Major Depression With Comorbid Fibromyalgia Syndrome Completed NCT00675896 Phase 4 Quetiapine Fumarate Sustained Release;Placebo
14 Treatment of Neonatal Abstinence Syndrome Completed NCT01723722 Phase 4 Methadone;Diluted Deodorized Tincture of Opium
15 Length of Post Operative Dressing After Carpal Tunnel Release Completed NCT01310218 Phase 4
16 Histamine H2 Antagonism as Adjuvant Therapy in Treatment Resistant Schizophrenia Completed NCT00565175 Phase 4 famotidine;Placebo (Microcrystallized cellulose)
17 Developing New Treatments for Tourette Syndrome: Therapeutic Trials With Modulators of Glutamatergic Neurotransmission Completed NCT01018056 Phase 4 D-serine;Riluzole;Placebo
18 Lofexidine for Inpatient Opiate Detox in Singapore Completed NCT01675648 Phase 4 Lofexidine;Diazepam;Placebo for Lofexidine;Placebo for Diazepam
19 An Open Label Trial of Duloxetine in the Treatment of Irritable Bowel Syndrome and Comorbid Generalized Anxiety Disorder Completed NCT00961298 Phase 4 Duloxetine
20 Paroxetine-CR (Paxil-CR) in the Treatment of Patients With Fibromyalgia Syndrome Completed NCT00610610 Phase 4 Paroxetine CR;Placebo
21 Radio-frequency (RF)-Based Plasma Micro-tenotomy for the Treatment of Shoulder Impingement Syndrome Completed NCT01554670 Phase 4
22 Efficacy Study of Early Onset of Antipsychotic Drug Action in Schizophrenia Completed NCT00337662 Phase 4 olanzapine;risperidone;risperidone
23 A Study Comparing Three Strategies to Switch Patients With Schizophrenia or Schizoaffective Disorder to Risperidone After Unsuccessful Treatment With Olanzapine. Completed NCT00378183 Phase 4 risperidone
24 Pregnenolone Augmentation in the Treatment of Patients With Recent-Onset Schizophrenia Completed NCT00847600 Phase 4
25 Escitalopram in Depressive Patients With Acute Coronary Artery Syndrome Completed NCT00419471 Phase 4 Escitalopram;Placebo
26 Early Prediction of Clinical Response in Patients With Schizophrenia Treated by Paliperidone ER Completed NCT02075528 Phase 4 Paliperidone ER
27 Short and Long Term Exposure to Unique, Time-Varying Pulsed Electro-Magnetic Fields in Refractory Carpal Tunnel Syndrome Completed NCT00277563 Phase 4
28 Minocycline for Schizophrenia Completed NCT01809158 Phase 4 minocycline;placebo
29 Amisulpride Augmentation in Clozapine-unresponsive Schizophrenia Completed NCT01246232 Phase 4 Amisulpride;placebo
30 Conventional Radiofrequency, Pulse Radiofrequency, and TENS for Lumbar Facet Joint Pain Completed NCT02942147 Phase 4
31 An Efficacy and Safety Study of Long-Term Risperidone Microspheres in Participants With Schizophrenia Completed NCT00269919 Phase 4 Risperidone Long-Acting Injectable (RLAI)
32 An Efficacy and Safety Study of Long-acting Risperidone in Participants With Schizophrenia or Schizoaffective Disorders Who Are Receiving Psychiatric Home Care Treatment Completed NCT00526877 Phase 4 Risperidone
33 Efficacy and Safety of Lisdexamfetamine Dimesylate in Adults With Chronic Fatigue Syndrome Completed NCT01071044 Phase 4 Lisdexamfetamine Dimesylate;Placebo "30, 50 or 70 mg"
34 Mesalazine for the Treatment of Diarrhoea-predominant Irritable Bowel Syndrome (IBS-D) Completed NCT01316718 Phase 4 Mesalazine;Placebo
35 An Efficacy and Safety Study of Risperidone Long-Acting Microspheres in Participants With Schizophrenia, Schizophreniform or Schizoaffective Disorders Completed NCT01855074 Phase 4 Risperidone
36 Olanzapine in the Treatment of Hair Pulling (Trichotillomania) Completed NCT00182507 Phase 4 Olanzapine
37 Studies of Traditional Chinese Medicine Clinical Efficacy Evaluation Index Completed NCT01502943 Phase 4 Louxiangdan Tongxin granules;TCM granules placebo;Chixiangshen Tongxin granules;TCM granule placebo plus western basis treatment;Western basis treatment
38 Giardia Induced Fatigue and Functional Gastrointestinal Diseases Completed NCT00860236 Phase 4
39 A Study to Evaluate the Effectiveness and Safety of Paliperidone Palmitate in Subjects With Acute Schizophrenia Completed NCT01527305 Phase 4 Paliperidone palmitate
40 Efficacy and Safety of SEROQUEL Extended Release (XR) in Acute Schizophrenia Completed NCT00954122 Phase 4 Quetiapine XR (Seroquel XR)
41 Platelet Hyperreactivity to Aspirin and Stroke Completed NCT00766896 Phase 4 Aspirin (platelet sensitive versus platelet hyperreactivity)
42 Long-term Study Of Ropinirole In Restless Legs Syndrome Completed NCT00329602 Phase 4 Placebo;Ropinirole
43 Short-Term Versus Long-Term Treatment for Severe Premenstrual Syndrome (PMS) Completed NCT00318773 Phase 4 sertraline
44 Treatment of Obsessive-Compulsive Disorder Completed NCT00000373 Phase 4 olanzapine + fluoxetine;placebo + fluoxetine
45 SWITCH:Restless Legs Patients Switched to Ropinirole From Pramipexole Completed NCT00344994 Phase 4 pramipexole
46 Switching From Oral Dopamine Agonists to Rotigotine Completed NCT01976871 Phase 4 Rotigotine
47 Effectiveness of Vitamin Supplementation in Treating People With Residual Symptoms of Schizophrenia Completed NCT00611806 Phase 4
48 Open Label Trial of Aripiprazole in Children and Adolescents With Tourette's Disorder Completed NCT00241176 Phase 4 Aripiprazole
49 Efficacy and Safety of Armodafinil for Adults With Excessive Sleepiness Obstructive Sleep Apnea/Hypopnea and Depression Completed NCT00518986 Phase 4 armodafinil;placebo
50 Risperidone and Olanzapine for the Schizophrenic Patients With Neuroleptic-Induced Tardive Dyskinesia Completed NCT00621998 Phase 4 risperidone;olanzapine

Search NIH Clinical Center for Peeling Skin Syndrome 2

Genetic Tests for Peeling Skin Syndrome 2

Genetic tests related to Peeling Skin Syndrome 2:

id Genetic test Affiliating Genes
1 Peeling Skin Syndrome, Acral Type 29 24 TGM5

Anatomical Context for Peeling Skin Syndrome 2

MalaCards organs/tissues related to Peeling Skin Syndrome 2:

39
Skin, Eye, Brain, Testes, Bone, Heart, Lung

Publications for Peeling Skin Syndrome 2

Variations for Peeling Skin Syndrome 2

UniProtKB/Swiss-Prot genetic disease variations for Peeling Skin Syndrome 2:

71
id Symbol AA change Variation ID SNP ID
1 TGM5 p.Gly113Cys VAR_025849 rs112292549

ClinVar genetic disease variations for Peeling Skin Syndrome 2:

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 TGM5 NM_201631.3(TGM5): c.1335G> C (p.Lys445Asn) single nucleotide variant Pathogenic rs606231276 GRCh38 Chromosome 15, 43238827: 43238827
3 TGM5 NM_201631.3(TGM5): c.763T> C (p.Trp255Arg) single nucleotide variant Pathogenic rs115677373 GRCh38 Chromosome 15, 43252858: 43252858
4 TGM5 NM_201631.3(TGM5): c.122T> C (p.Leu41Pro) single nucleotide variant Pathogenic/Likely pathogenic rs143601447 GRCh38 Chromosome 15, 43260468: 43260468
5 TGM5 NM_201631.3(TGM5): c.640delC (p.Leu214Cysfs) deletion Pathogenic rs606231277 GRCh38 Chromosome 15, 43253550: 43253550
6 TGM5 NM_201631.3(TGM5): c.1811_1815delGCAGTinsTCCTTCA (p.Ser604Ilefs) indel Pathogenic rs606231278 GRCh38 Chromosome 15, 43234829: 43234833

Expression for Peeling Skin Syndrome 2

Search GEO for disease gene expression data for Peeling Skin Syndrome 2.

Pathways for Peeling Skin Syndrome 2

Pathways related to Peeling Skin Syndrome 2 according to GeneCards Suite gene sharing:

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

GO Terms for Peeling Skin Syndrome 2

Biological processes related to Peeling Skin Syndrome 2 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cornification GO:0070268 8.96 CSTA TGM5
2 peptide cross-linking GO:0018149 8.62 CSTA TGM5

Sources for Peeling Skin Syndrome 2

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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