MCID: RRG043
MIFTS: 18

Rare Genetic Skin Disease

Categories: Rare diseases, Skin diseases
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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 huriez syndrome and atrophoderma vermiculata. Affiliated tissues include skin, tongue 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 top 50) (show all 56)
# Related Disease Score Top Affiliating Genes
1 huriez syndrome 11.1
2 atrophoderma vermiculata 11.1
3 encephalocraniocutaneous lipomatosis 11.1
4 digital clubbing, isolated congenital 11.1
5 dyschromatosis symmetrica hereditaria 11.1
6 epidermodysplasia verruciformis 1 11.1
7 bazex syndrome 11.1
8 epidermodysplasia verruciformis 2 11.1
9 lipoid proteinosis of urbach and wiethe 11.0
10 anhidrosis, isolated, with normal sweat glands 11.0
11 hyperchlorhidrosis, isolated 11.0
12 poikiloderma, hereditary sclerosing 11.0
13 collagenosis, familial reactive perforating 11.0
14 basaloid follicular hamartoma syndrome, generalized, autosomal dominant 11.0
15 pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency 11.0
16 peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads 11.0
17 cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma 11.0
18 familial anetoderma 11.0
19 pachyonychia congenita 1 10.9
20 monilethrix 10.9
21 peeling skin syndrome 1 10.9
22 xeroderma pigmentosum, variant type 10.9
23 vohwinkel syndrome, variant form 10.9
24 epidermodysplasia verruciformis 3 10.9
25 epidermodysplasia verruciformis 4 10.9
26 epidermodysplasia verruciformis 5 10.9
27 restrictive dermopathy 2 10.9
28 dyschromatosis universalis hereditaria 10.9
29 x-linked chondrodysplasia punctata 2 10.9
30 keratosis follicularis spinulosa decalvans 10.9
31 skin disease 10.5
32 erythrokeratoderma ''en cocardes'' 10.5
33 keratosis 10.2
34 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.1
35 histiocytosis-lymphadenopathy plus syndrome 10.0
36 cardiofaciocutaneous syndrome 1 9.9
37 darier-white disease 9.9
38 keratitis-ichthyosis-deafness syndrome, autosomal dominant 9.9
39 neurofibromatosis, type i 9.9
40 noonan syndrome 1 9.9
41 piebald trait 9.9
42 down syndrome 9.9
43 vitiligo-associated multiple autoimmune disease susceptibility 6 9.9
44 gapo syndrome 9.9
45 netherton syndrome 9.9
46 incontinentia pigmenti 9.9
47 malignant atrophic papulosis 9.9
48 vitiligo-associated multiple autoimmune disease susceptibility 1 9.9
49 dowling-degos disease 9.9
50 rasopathy 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

Search Clinical Trials, NIH Clinical Center for Rare Genetic Skin Disease

Genetic Tests for Rare Genetic Skin Disease

Anatomical Context for Rare Genetic Skin Disease

Organs/tissues related to Rare Genetic Skin Disease:

MalaCards : Skin, Tongue, Colon, Thyroid, Lung, Brain

Publications for Rare Genetic Skin Disease

Articles related to Rare Genetic Skin Disease:

(show top 50) (show all 371)
# Title Authors PMID Year
1
Renal involvement in H syndrome, a rare cause of diabetes mellitus: Case report. 62
36372920 2022
2
Conradi-H√ľnermann-Happle syndrome: Clinical and trichoscopic findings. 62
36263758 2022
3
Surgical management and oncological follow-up of cutaneous squamous cell carcinomas arising in epidermolysis bullosa patients. 62
35315931 2022
4
Progression and flaring of focal dermal hypoplasia during an acute illness. 62
36126868 2022
5
Condyloma and coincidental epidermodysplasia verruciformis acanthoma positive for human papillomavirus-14 and -21. 62
36039682 2022
6
Eosinophilic homogeneous intracytoplasmic inclusion bodies: Unique viral cytopathic changes associated with epidermodysplasia verruciformis and human papillomavirus type 49. 62
35262953 2022
7
Unusual facial lesions in H syndrome. 62
35865784 2022
8
Effect of mutations on the hydrophobic interactions of the hierarchical molecular structure and mechanical properties of epithelial keratin 1/10. 62
35623459 2022
9
Whole-transcriptome sequencing identifies postzygotic ATP2A2 mutations in a patient misdiagnosed with herpes zoster, confirming the diagnosis of very late-onset segmental Darier disease. 62
35246884 2022
10
Huriez syndrome: Additional pathogenic variants supporting allelism to SMARCAD syndrome. 62
35212137 2022
11
Erythrokeratodermia variabilis et progressiva due to a novel mutation in GJB4. 62
34717022 2022
12
Future applications of 3D bioprinting: A promising technology for treating recessive dystrophic epidermolysis bullosa. 62
34699623 2022
13
Multiple sebaceous tumors in a 58-year-old man with colorectal cancer. 62
35280107 2022
14
Capillary Malformation-arteriovenous Malformation Type 2: A Case Report and Review. 62
35088870 2022
15
Incontinentia pigmenti / Bloch-Sulzberger syndrome: a case report. 62
35339131 2022
16
Evaluating a Targeted Cancer Therapy Approach Mediated by RNA trans-Splicing In Vitro and in a Xenograft Model for Epidermolysis Bullosa-Associated Skin Cancer. 62
35008999 2022
17
Retinal Neovascularization in Two Patients with Incontinentia Pigmenti. 62
35521560 2022
18
Dystrophic epidermolysis bullosa pruriginosa: a new case series of a rare phenotype unveils skewed Th2 immunity. 62
34543471 2022
19
Clinical, immunological, and genetic investigations in a rare association of type 1 diabetes with xeroderma pigmentosum. 62
35942827 2022
20
Erythrokeratoderma variabilis (EKV) - First Nepalese case documenting GJB3 mutation. 62
35663771 2021
21
Classic Dowling Degos disease: a rare genodermatosis. 62
31195785 2021
22
Molecular origin of the effects of mutation on the structure and mechanical properties of human epithelial keratin K5/K14. 62
34509171 2021
23
Ultrasonographic features of cutaneous myxomas in a patient with Carney complex. 62
34518036 2021
24
Acral peeling skin syndrome resulting from a novel homozygous mutation in the CSTA gene-A report of two cases. 62
34713485 2021
25
Ancestral patterns of recessive dystrophic epidermolysis bullosa mutations in Hispanic populations suggest sephardic ancestry. 62
34435747 2021
26
Lipoid Proteinosis (Urbach-Wiethe Disease): A Rare Genodermatosis with Characteristic Dermatological and Neuroimaging Findings. 62
35002137 2021
27
Case of Olmsted Syndrome with Essential Thrombocytosis Misdiagnosed as Acrodermatitis Enteropathica. 62
35068533 2021
28
Are the kidneys involved in lipoid proteinosis? Study of 22 patients. 62
33999483 2021
29
Netherton Syndrome: Case Report and Review of the Literature. 62
34604321 2021
30
Evaluation of cochlear involvement and hearing function in lipoid proteinosis patients. 62
33174327 2021
31
Skin tumors in xeroderma pigmentosum: Evaluation of a large series and a literature review. 62
33569789 2021
32
Gastrostomy for infants with severe epidermolysis bullosa simplex in neonatal intensive care. 62
34116697 2021
33
Two novel SASH1 mutations in Chinese families with dyschromatosis universalis hereditaria. 62
34028087 2021
34
Exacerbation of Galli-Galli Disease Following Dialysis Treatment: A Case Report and Review of Aggravating Factors. 62
34249550 2021
35
Darier's Disease Flare following COVID-19 Vaccine. 62
34594203 2021
36
PLACK syndrome is potentially treatable with intralipids. 62
33410500 2021
37
Deep-intronic and frameshift DSG1 variants associated with atypical severe dermatitis, multiple allergies and metabolic wasting (SAM) syndrome in a Chinese family. 62
33818390 2021
38
Epidermodysplasia verruciformis: report of two patients with autosomal dominant inheritance. 62
33818984 2021
39
Identification of a novel three-nucleotide duplication in ECM1 in Chinese siblings affected with lipoid proteinosis. 62
33159951 2021
40
Identification and Splicing Characterization of Novel TMC6 and TMC8 Variants Associated With Epidermodysplasia Verruciformis in Three Chinese Families. 62
34386043 2021
41
Validity of First-Time Diagnoses of Darier's Disease in the Danish National Patient Registry. 62
34795531 2021
42
KID Syndrome and Hidradenitis Suppurativa: A Rare Association Responding to Surgical Treatment. 62
33614714 2021
43
Hereditary leiomyomatosis and renal cell carcinoma: a case series and literature review. 62
33461594 2021
44
A novel KRT1 c.1433A>G p.(Glu478Gly) mutation in a newborn with epidermolytic ichthyosis. 62
33363884 2020
45
Hidradenitis Suppurativa Associated with Galli-Galli Disease: Extending the Link with Dowling-Degos Disease. 62
33488918 2020
46
Next-Generation Sequencing Identifies a Homozygous Nonsense p.Tyr370* Mutation of the TMC6 Gene in a Mexican Pedigree with Epidermodysplasia Verruciformis. 62
33262542 2020
47
Multi-Gene Next-Generation Sequencing for Molecular Diagnosis of Autosomal Recessive Congenital Ichthyosis: A Genotype-Phenotype Study of Four Italian Patients. 62
33255364 2020
48
Conradi-H√ľnermann-Happle syndrome: report of a novel heterozygous mutation on the emopamil-binding protein gene, c.333delC. 62
33147667 2020
49
Generalized bullae in a young girl with KRT6A-related pachyonychia congenita. 62
32662074 2020
50
H syndrome: A rare genodermatosis. 62
32585061 2020

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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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