MCID: RRG043
MIFTS: 22

Rare Genetic Skin Disease

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Rare Genetic Skin Disease

MalaCards integrated aliases for Rare Genetic Skin Disease:

Name: Rare Genetic Skin Disease 58
Rare Genodermatosis 58

Classifications:



External Ids:

UMLS via Orphanet 72 C0037277
Orphanet 58 ORPHA68346

Summaries for Rare Genetic Skin Disease

MalaCards based summary : Rare Genetic Skin Disease, also known as rare genodermatosis, is related to epidermodysplasia verruciformis 1 and epidermodysplasia verruciformis 2. The drugs Erythromycin and Anti-Infective Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, brain and colon.

Related Diseases for Rare Genetic Skin Disease

Diseases related to Rare Genetic Skin Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 41)
# Related Disease Score Top Affiliating Genes
1 epidermodysplasia verruciformis 1 11.3
2 epidermodysplasia verruciformis 2 11.2
3 digital clubbing, isolated congenital 11.0
4 dyschromatosis symmetrica hereditaria 11.0
5 erythrokeratodermia variabilis et progressiva 1 11.0
6 peeling skin syndrome 1 11.0
7 bazex syndrome 11.0
8 vohwinkel syndrome, variant form 11.0
9 ectodermal dysplasia/skin fragility syndrome 11.0
10 epidermodysplasia verruciformis 3 11.0
11 epidermodysplasia verruciformis 4 11.0
12 epidermodysplasia verruciformis 5 11.0
13 dyschromatosis universalis hereditaria 11.0
14 keratosis follicularis spinulosa decalvans 11.0
15 collagenosis, familial reactive perforating 10.9
16 encephalocraniocutaneous lipomatosis 10.9
17 erythrokeratoderma ''en cocardes'' 10.5
18 keratosis 10.2
19 cardiofaciocutaneous syndrome 1 9.9
20 darier-white disease 9.9
21 neurofibromatosis, type i 9.9
22 noonan syndrome 1 9.9
23 pachyonychia congenita 1 9.9
24 piebald trait 9.9
25 dowling-degos disease 1 9.9
26 vitiligo-associated multiple autoimmune disease susceptibility 6 9.9
27 gapo syndrome 9.9
28 lipoid proteinosis of urbach and wiethe 9.9
29 netherton syndrome 9.9
30 incontinentia pigmenti 9.9
31 malignant atrophic papulosis 9.9
32 vitiligo-associated multiple autoimmune disease susceptibility 1 9.9
33 dowling-degos disease 9.9
34 rasopathy 9.9
35 ichthyosis 9.9
36 palmoplantar keratosis 9.9
37 neurofibromatosis 9.9
38 waardenburg's syndrome 9.9
39 albinism 9.9
40 47,xyy 9.9
41 pseudo-turner syndrome 9.9

Graphical network of the top 20 diseases related to Rare Genetic Skin Disease:



Diseases related to Rare Genetic Skin Disease

Symptoms & Phenotypes for Rare Genetic Skin Disease

Drugs & Therapeutics for Rare Genetic Skin Disease

Drugs for Rare Genetic Skin Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 18)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Erythromycin Approved, Investigational, Vet_approved Phase 3 114-07-8 12560 441411
2 Anti-Infective Agents Phase 3
3 Erythromycin Estolate Phase 3
4 Erythromycin stearate Phase 3
5 Anti-Bacterial Agents Phase 3
6 Erythromycin Ethylsuccinate Phase 3
7 Gastrointestinal Agents Phase 3
8
Pimecrolimus Approved, Investigational Phase 1, Phase 2 137071-32-0 17753757 6447131
9 Analgesics, Non-Narcotic Phase 1, Phase 2
10 Immunologic Factors Phase 1, Phase 2
11 Analgesics Phase 1, Phase 2
12 Calcineurin Inhibitors Phase 1, Phase 2
13 Dermatologic Agents Phase 1, Phase 2
14 Immunosuppressive Agents Phase 1, Phase 2
15 Antirheumatic Agents Phase 1, Phase 2
16 Anti-Inflammatory Agents, Non-Steroidal Phase 1, Phase 2
17 Anti-Inflammatory Agents Phase 2
18 Diacetylrhein Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Treatment of Dowling Maera Type of Epidermolysis Bullosa Simplex by Oral Erythromycin Unknown status NCT01340235 Phase 3 Oral erythromycin
2 Exploratory Safety and Systemic Absorption of Elidel (Pimecrolimus) 1% Cream for the Treatment of Netherton Syndrome Completed NCT00208026 Phase 1, Phase 2 Pimecrolimus 1% Cream
3 An International, Multicenter, Randomized, Double-Blind, Parallel-Group Phase 2 Study Evaluating the Safety and Efficacy of Diacerein 1% Ointment Topical Formulation in Subjects With Epidermolysis Bullosa Simplex Terminated NCT03154333 Phase 2 diacerein 1% ointment;A placebo ointment
4 Study of Inflammatory Mechanisms in Epidermolysis Bullosa Simplex- Dowling Meara Completed NCT01556308

Search NIH Clinical Center for Rare Genetic Skin Disease

Genetic Tests for Rare Genetic Skin Disease

Anatomical Context for Rare Genetic Skin Disease

MalaCards organs/tissues related to Rare Genetic Skin Disease:

40
Skin, Brain, Colon, Lung, Thyroid, T Cells, Amygdala

Publications for Rare Genetic Skin Disease

Articles related to Rare Genetic Skin Disease:

(show top 50) (show all 316)
# Title Authors PMID Year
1
Approaches to Photoprotection and Normalization in Highly Adherent Families of Children With Xeroderma Pigmentosum in the United Kingdom. 61
30741094 2020
2
Dyschromatosis Universalis Hereditaria with Hypospadias: A Rare Association. 61
32477990 2020
3
Pathophysiology of pachyonychia congenita-associated palmoplantar keratoderma: new insights into skin epithelial homeostasis and avenues for treatment. 61
31021398 2020
4
A novel pathogenic FERMT1 variant in four families with Kindler syndrome in Argentina. 61
31957900 2020
5
Palmoplantar keratoderma, oral involvement, and homozygous CTSC mutation in two brothers from Cambodia. 61
31846207 2020
6
[Incontinentia pigmenti. A descriptive study of experience in two different hospitals]. 61
31109788 2020
7
Severe Generalized Epidermolysis Bullosa Simplex in Two Hong Kong Children due to De Novo Variants in KRT14 and KRT5. 61
32351751 2020
8
Mutations in the CDSN gene cause peeling skin disease and hypotrichosis simplex of the scalp. 61
31663161 2020
9
KID Syndrome: A Rare Genodermatosis. 61
32055527 2020
10
Darier Disease - A Clinical Illustration of Its High Variable Expressivity. 61
31938586 2019
11
Michelin Tire Baby Syndrome: A Rare Case with Review of Literature. 61
31696012 2019
12
Assessment of the risk and characterization of non-melanoma skin cancer in Kindler syndrome: study of a series of 91 patients. 61
31340837 2019
13
Classic dowling degos disease: a rare genodermatosis. 61
31195785 2019
14
Dowling-Degos Disease Presenting Primarily with Comedones and Atrophic Scarring. 61
31700856 2019
15
A novel approach to the classification of epidermodysplasia verruciformis. 61
30156265 2018
16
Intrafamilial clinical variability in four families with incontinentia pigmenti. 61
30151858 2018
17
Two Cases of Chronic Candidiasis in Keratitis-Ichthyosis-Deafness Syndrome. 61
29742560 2018
18
Renal transplantation in Birt-Hogg-Dubé syndrome: should we? 61
30326848 2018
19
Bazex-Dupré-Christol syndrome: review of clinical and molecular aspects. 61
29808590 2018
20
GAPO syndrome: a rare genodermatosis presenting with unique features. 61
29377094 2018
21
Reed's Syndrome. 61
29937565 2018
22
A Rare Syndrome Resembling Scleroderma: Huriez Syndrome. 61
29765964 2018
23
[Renal Transplantation in a patient with Recessive Dystrophic Epidermolysis Bullosa: a case report] 61
30130485 2018
24
A novel Y160C mutation of Keratin 10 gene in a Chinese male infant with epidermolytic hyperkeratosis. 61
30859768 2018
25
H Syndrome: A Rare Genodermatosis Imaged With 18F-FDG PET/CT. 61
29189375 2018
26
Peeling skin syndrome associated with novel variant in FLG2 gene. 61
28884927 2017
27
Keratitis-ichthyosis-deafness syndrome accompanied by disseminated cutaneous fungal infection. 61
28635012 2017
28
[Epidermolysis bullosa]. 61
29208193 2017
29
[Monilethrix is a hereditary hair shaft disorder]. 61
28918778 2017
30
Cowden syndrome: clinical case and a brief review. 61
29469739 2017
31
Comparative study of p16 protein expression in squamous cell carcinomas from patients with epidermodysplasia verruciformis and patients without the disease. 61
28439661 2017
32
Pathomechanisms of Altered Wound Healing in Recessive Dystrophic Epidermolysis Bullosa. 61
28460207 2017
33
Value of dermoscopy for the diagnosis of monilethrix. 61
29469711 2017
34
Re-evaluation of epidermodysplasia verruciformis: Reconciling more than 90 years of debate. 61
28196644 2017
35
Familial progressive hyper- and hypopigmentation: a report on a Chinese family and evidence for genetic heterogeneity. 61
29186243 2017
36
Darier disease: A rare genodermatosis. 61
28932054 2017
37
Vegetating Candidiasis: A Mimicker of Squamous Cell Carcinoma in Keratitis Ichthyosis Deafness Syndrome. 61
28111777 2017
38
Congenital erythropoietic porphyria (Gunther disease) - long-term follow up of a case and review. 61
28329491 2017
39
Expansion of the genotypic and phenotypic spectrum of xeroderma pigmentosum in Chinese population. 61
27982466 2017
40
Analysis of Sebaceous Neoplasms for DNA Mismatch Repair Proteins in Muir-Torre Syndrome. 61
28859734 2017
41
[Piebaldisme: a rare genodermatosis]. 61
28979623 2017
42
Dyschromatosis symmetrica hereditaria with cutaneous lupus erythematosus and hyperthyroidism. 61
28496371 2017
43
Is c.1431-12G>A A common European mutation of SPINK5? report of a patient with Netherton Syndrome. 61
28289593 2016
44
Kaposi-Juliusberg varicelliform eruption in patients suffering from Darier-White Disease: a case report and review of the literature. 61
25502366 2016
45
Incontinentia Pigmenti; a Rare Multisystem Disorder: Case Report of a 10-Year-Old Girl. 61
27602400 2016
46
Heterozygous Cylindromatosis Gene Mutation c.1628_1629delCT in a Family with Brook-Spiegler Syndrome. 61
27688459 2016
47
Chemotaxis-driven disease-site targeting of therapeutic adult stem cells in dystrophic epidermolysis bullosa. 61
27568180 2016
48
Clinical and molecular characterization of two patients with palmoplantar keratoderma-congenital alopecia syndrome type 2. 61
27339777 2016
49
Zinsser-Cole-Engman Syndrome: A Rare Case Report. 61
27504423 2016
50
Successful treatment of pityriasis lichenoides chronica with narrow-band ultraviolet B therapy in a patient with Keratitis-Ichthyosis-Deafness syndrome: a case report. 61
27617521 2016

Variations for Rare Genetic Skin Disease

Expression for Rare Genetic Skin Disease

Search GEO for disease gene expression data for Rare Genetic Skin Disease.

Pathways for Rare Genetic Skin Disease

GO Terms for Rare Genetic Skin Disease

Sources for Rare Genetic Skin Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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