HRSV
MCID: HYP346
MIFTS: 19

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 58 76 38 30 13 6 41
Hereditary Hypotrichosis with Recurrent Skin Vesicles 60
Hrsv 76

Characteristics:

Orphanet epidemiological data:

60
hereditary hypotrichosis with recurrent skin vesicles
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
hypotrichosis and recurrent skin vesicles:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare skin diseases


External Ids:

OMIM 58 613102
KEGG 38 H00782
MeSH 45 D007039
Orphanet 60 ORPHA217407
MedGen 43 C2751292
SNOMED-CT via HPO 70 258211005 53602002 56558005

Summaries for Hypotrichosis and Recurrent Skin Vesicles

UniProtKB/Swiss-Prot : 76 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 respiratory syncytial virus infectious disease and bronchiolitis. An important gene associated with Hypotrichosis and Recurrent Skin Vesicles is DSC3 (Desmocollin 3). Affiliated tissues include skin, and related phenotypes are hypotrichosis and sparse scalp hair

Description 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 respiratory syncytial virus infectious disease 10.1
2 bronchiolitis 10.1
3 hypotrichosis 10.1

Symptoms & Phenotypes for Hypotrichosis and Recurrent Skin Vesicles

Human phenotypes related to Hypotrichosis and Recurrent Skin Vesicles:

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 hypotrichosis 33 HP:0001006
2 sparse scalp hair 33 HP:0002209
3 aplasia/hypoplasia of the eyebrow 33 HP:0100840
4 skin vesicle 33 HP:0200037
5 sparse axillary hair 33 HP:0002215
6 sparse or absent eyelashes 33 HP:0200102

Symptoms via clinical synopsis from OMIM:

58
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 30 DSC3

Anatomical Context for Hypotrichosis and Recurrent Skin Vesicles

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

42
Skin

Publications for Hypotrichosis and Recurrent Skin Vesicles

Articles related to Hypotrichosis and Recurrent Skin Vesicles:

# Title Authors Year
1
A homozygous nonsense mutation in the human desmocollin-3 (DSC3) gene underlies hereditary hypotrichosis and recurrent skin vesicles. ( 19765682 )
2009

Variations for Hypotrichosis and Recurrent Skin Vesicles

ClinVar genetic disease variations for Hypotrichosis and Recurrent Skin Vesicles:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 DSC3 NM_024423.3(DSC3): c.2129T> G (p.Leu710Ter) single nucleotide variant Pathogenic rs137852782 GRCh37 Chromosome 18, 28581690: 28581690
2 DSC3 NM_024423.3(DSC3): c.2129T> G (p.Leu710Ter) single nucleotide variant Pathogenic rs137852782 GRCh38 Chromosome 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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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