HRSV
MCID: HYP346
MIFTS: 29

Hypotrichosis and Recurrent Skin Vesicles (HRSV)

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Hypotrichosis and Recurrent Skin Vesicles

MalaCards integrated aliases for Hypotrichosis and Recurrent Skin Vesicles:

Name: Hypotrichosis and Recurrent Skin Vesicles 56 73 36 29 13 6 39
Hereditary Hypotrichosis with Recurrent Skin Vesicles 58
Hrsv 73

Characteristics:

Orphanet epidemiological data:

58
hereditary hypotrichosis with recurrent skin vesicles
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
hypotrichosis and recurrent skin vesicles:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

OMIM 56 613102
KEGG 36 H00782
MeSH 43 D007039
Orphanet 58 ORPHA217407
MedGen 41 C2751292
SNOMED-CT via HPO 68 258211005 53602002 56558005

Summaries for Hypotrichosis and Recurrent Skin Vesicles

UniProtKB/Swiss-Prot : 73 Hypotrichosis and recurrent skin vesicles: A disorder characterized by hypotrichosis and the appearance of recurrent skin vesicle formation. Affected individuals show sparse and fragile hair on scalp, as well as absent eyebrows and eyelashes. Vesicles filled with thin, watery fluid are observed on the scalp and skin of most of the body. Mucosal vesicles are absent.

MalaCards based summary : Hypotrichosis and Recurrent Skin Vesicles, also known as hereditary hypotrichosis with recurrent skin vesicles, is related to bronchiolitis and helix syndrome. An important gene associated with Hypotrichosis and Recurrent Skin Vesicles is DSC3 (Desmocollin 3). Affiliated tissues include skin, t cells and lung, and related phenotypes are skin vesicle and hypotrichosis

KEGG : 36 Hypotrichosis and recurrent skin vesicles is a condition with sparse and fragile hair on scalp and vesicles on the skin over the body. Desmocollin 3, a transmembrane component of desmosomes, is associated with the disease.

More information from OMIM: 613102

Related Diseases for Hypotrichosis and Recurrent Skin Vesicles

Diseases related to Hypotrichosis and Recurrent Skin Vesicles via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 bronchiolitis 10.6
2 helix syndrome 10.2
3 bronchopneumonia 10.2
4 respiratory syncytial virus infectious disease 10.2
5 measles 10.2
6 encephalopathy 10.2
7 hypotrichosis 10.1

Graphical network of the top 20 diseases related to Hypotrichosis and Recurrent Skin Vesicles:



Diseases related to Hypotrichosis and Recurrent Skin Vesicles

Symptoms & Phenotypes for Hypotrichosis and Recurrent Skin Vesicles

Human phenotypes related to Hypotrichosis and Recurrent Skin Vesicles:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 skin vesicle 31 HP:0200037
2 hypotrichosis 31 HP:0001006
3 sparse scalp hair 31 HP:0002209
4 sparse body hair 31 HP:0002231
5 aplasia/hypoplasia of the eyebrow 31 HP:0100840
6 sparse axillary hair 31 HP:0002215
7 sparse or absent eyelashes 31 HP:0200102

Symptoms via clinical synopsis from OMIM:

56
Skin Nails Hair Hair:
sparse scalp hair
sparse to absent eyelashes
sparse to absent axillary hair
sparse to absent body hair
sparse to absent eyebrows

Skin Nails Hair Skin Histology:
slight follicular plugging with mild presence of perivascular and periadnexal inflammatory cells
normal hair follicles
normal sebaceous glands

Skin Nails Hair Skin:
vesicles on scalp and skin filled with clear fluid and less than 1cm in diameter
no mucosal vesicles

Clinical features from OMIM:

613102

Drugs & Therapeutics for Hypotrichosis and Recurrent Skin Vesicles

Search Clinical Trials , NIH Clinical Center for Hypotrichosis and Recurrent Skin Vesicles

Genetic Tests for Hypotrichosis and Recurrent Skin Vesicles

Genetic tests related to Hypotrichosis and Recurrent Skin Vesicles:

# Genetic test Affiliating Genes
1 Hypotrichosis and Recurrent Skin Vesicles 29 DSC3

Anatomical Context for Hypotrichosis and Recurrent Skin Vesicles

MalaCards organs/tissues related to Hypotrichosis and Recurrent Skin Vesicles:

40
Skin, T Cells, Lung, Testes, Heart, Neutrophil

Publications for Hypotrichosis and Recurrent Skin Vesicles

Articles related to Hypotrichosis and Recurrent Skin Vesicles:

(show top 50) (show all 584)
# Title Authors PMID Year
1
A homozygous nonsense mutation in the human desmocollin-3 (DSC3) gene underlies hereditary hypotrichosis and recurrent skin vesicles. 61 56 6
19765682 2009
2
No evidence of skin blisters with human desmocollin-3 gene mutation. 56
20159115 2010
3
Preliminary functional and phylogeographic analyses of the 72 nucleotide duplication region in the emerging human respiratory syncytial virus ON1 strain attachment glycoprotein gene. 61
31901716 2020
4
Protecting-Group-Mediated Diastereoselective Synthesis of C4'-Methylated Uridine Analogs and their Activity against the Human Respiratory Syncytial Virus. 61
32036652 2020
5
A small fragmented P protein of respiratory syncytial virus inhibits virus infection by targeting P protein. 61
31702536 2020
6
5,6-Dichloro-2-phenyl-benzotriazoles: New Potent Inhibitors of Orthohantavirus. 61
31968537 2020
7
Quercetin pentaacetate inhibits in vitro human respiratory syncytial virus adhesion. 61
31712123 2020
8
Interactome networks between the human respiratory syncytial virus (HRSV), the human metapneumovirus (ΗMPV), and their host: In silico investigation and comparative functional enrichment analysis. 61
31988005 2020
9
Improving Pneumovirus Isolation Using a Centrifugation and AZD1480 Combined Method. 61
31581384 2019
10
Molecular epidemiology of human respiratory syncytial virus and human metapneumovirus in hospitalized children with acute respiratory infections in Croatia, 2014-2017. 61
31521788 2019
11
PI4KB on Inclusion Bodies Formed by ER Membrane Remodeling Facilitates Replication of Human Parainfluenza Virus Type 3. 61
31747597 2019
12
Typical epidemiology of respiratory virus infections in a Brazilian slum. 61
31769524 2019
13
Virus isolation and genotype identification of human respiratory syncytial virus in Guizhou Province, China. 61
31734172 2019
14
[Preparation and identification of mouse anti-human monoclonal antibody against P protein of respiratory syncytial virus]. 61
31879001 2019
15
High Resolution Analysis of Respiratory Syncytial Virus Infection In Vivo. 61
31658630 2019
16
Contribution of IDO to human respiratory syncytial virus infection. 61
31091352 2019
17
Duplex real-time RT-PCR assay for detection and subgroup-specific identification of human respiratory syncytial virus. 61
31181218 2019
18
Nasal or throat sampling is adequate for the detection of the human respiratory syncytial virus in children with acute respiratory infections. 61
31050005 2019
19
In utero tobacco smoke exposure alters lung inflammation, viral clearance, and CD8+ T-cell responses in neonatal mice infected with respiratory syncytial virus. 61
31090436 2019
20
Incidence of respiratory syncytial virus infection in children with congenital heart disease undergoing immunoprophylaxis with palivizumab in Pará state, north region of Brazil. 61
31462289 2019
21
Human respiratory syncytial virus infection in the pre-clinical calf model. 61
31300116 2019
22
Synthesis of 4'/5'-Spirocyclopropanated Uridine and d-Xylouridine Derivatives and Their Activity against the Human Respiratory Syncytial Virus. 61
31433193 2019
23
Characterization of cellular transcriptomic signatures induced by different respiratory viruses in human reconstituted airway epithelia. 61
31391513 2019
24
Establishment of Primary Transgenic Human Airway Epithelial Cell Cultures to Study Respiratory Virus-Host Interactions. 61
31412613 2019
25
Profiling of local disease-sparing responses to bovine respiratory syncytial virus in intranasally vaccinated and challenged calves. 61
31146050 2019
26
Molecular characterization of the glycoprotein and fusion protein in human respiratory syncytial virus subgroup A: Emergence of ON-1 genotype in Iran. 61
30946992 2019
27
Evaluation of a loop-mediated isothermal amplification method for rapid detection of human respiratory syncytial virus in children with acute respiratory infection 61
31529826 2019
28
Gradual replacement of all previously circulating respiratory syncytial virus A strain with the novel ON1 genotype in Lanzhou from 2010 to 2017. 61
31083208 2019
29
Genotyping of Type A Human Respiratory Syncytial Virus Based on Direct F Gene Sequencing. 61
31137571 2019
30
siRNA-Mediated Simultaneous Regulation of the Cellular Innate Immune Response and Human Respiratory Syncytial Virus Replication. 61
31035368 2019
31
Immunoproteomic Lessons for Human Respiratory Syncytial Virus Vaccine Design. 61
30974886 2019
32
Identification of a human respiratory syncytial virus phosphoprotein domain required for virus-like-particle formation. 61
31009855 2019
33
Genetic diversity of human respiratory syncytial virus in children with acute respiratory infections in Chennai, South India. 61
31745027 2019
34
Generation, Amplification, and Titration of Recombinant Respiratory Syncytial Viruses. 61
31009004 2019
35
Biochemical characterization of the respiratory syncytial virus N0-P complex in solution. 61
30626736 2019
36
A two-amino acid mutation in murine IgA enables downstream processing and purification on staphylococcal superantigen-like protein 7. 61
30771443 2019
37
Virological surveillance of human respiratory syncytial virus A and B at a tertiary hospital in Catalonia (Spain) during five consecutive seasons (2013-2018). 61
30860397 2019
38
Biophysical and flavonoid-binding studies of the G protein ectodomain of group A human respiratory syncytial virus. 61
30976680 2019
39
Current Animal Models for Understanding the Pathology Caused by the Respiratory Syncytial Virus. 61
31130923 2019
40
Contribution of Cytokines to Tissue Damage During Human Respiratory Syncytial Virus Infection. 61
30936869 2019
41
Establishment of a lethal aged mouse model of human respiratory syncytial virus infection. 61
30503888 2019
42
Contribution of Fcγ Receptor-Mediated Immunity to the Pathogenesis Caused by the Human Respiratory Syncytial Virus. 61
30984626 2019
43
Correction: The significance of human respiratory syncytial virus (HRSV) in children from Ghana with acute lower respiratory tract infection: A molecular epidemiological analysis, 2006 and 2013-2014. 61
31412078 2019
44
Distinct transcriptional modules in the peripheral blood mononuclear cells response to human respiratory syncytial virus or to human rhinovirus in hospitalized infants with bronchiolitis. 61
30845274 2019
45
Cytokines in the Respiratory Airway as Biomarkers of Severity and Prognosis for Respiratory Syncytial Virus Infection: An Update. 61
31214165 2019
46
Immune-Modulation by the Human Respiratory Syncytial Virus: Focus on Dendritic Cells. 61
31057543 2019
47
Utility of the Neonatal Calf Model for Testing Vaccines and Intervention Strategies for Use against Human RSV Infection. 61
30626099 2019
48
Vaccinations and Infections Are Associated With Unrelated Antibody Titers: An Analysis From the German Birth Cohort Study LISA. 61
31294004 2019
49
Investigation of an outbreak of acute respiratory disease in an indigenous village in Brazil: Contribution of Influenza A(H1N1)pdm09 and human respiratory syncytial viruses. 61
31283762 2019
50
Sequence Analysis of the Fusion Protein Gene of Human Respiratory Syncytial Virus Circulating in China from 2003 to 2014. 61
30514963 2018

Variations for Hypotrichosis and Recurrent Skin Vesicles

ClinVar genetic disease variations for Hypotrichosis and Recurrent Skin Vesicles:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DSC3 NM_001941.5(DSC3):c.2129T>G (p.Leu710Ter)SNV Pathogenic 9231 rs137852782 18:28581690-28581690 18:31001724-31001724

Expression for Hypotrichosis and Recurrent Skin Vesicles

Search GEO for disease gene expression data for Hypotrichosis and Recurrent Skin Vesicles.

Pathways for Hypotrichosis and Recurrent Skin Vesicles

GO Terms for Hypotrichosis and Recurrent Skin Vesicles

Sources for Hypotrichosis and Recurrent Skin Vesicles

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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