MCID: HYP346
MIFTS: 18

Hypotrichosis and Recurrent Skin Vesicles

Categories: Genetic diseases, Skin diseases, Rare diseases

Aliases & Classifications for Hypotrichosis and Recurrent Skin Vesicles

MalaCards integrated aliases for Hypotrichosis and Recurrent Skin Vesicles:

Name: Hypotrichosis and Recurrent Skin Vesicles 57 75 37 29 13 6 40
Hereditary Hypotrichosis with Recurrent Skin Vesicles 59
Hrsv 75

Characteristics:

Orphanet epidemiological data:

59
hereditary hypotrichosis with recurrent skin vesicles
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
hypotrichosis and recurrent skin vesicles:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

OMIM 57 613102
Orphanet 59 ORPHA217407
MedGen 42 C2751292
MeSH 44 D007039
KEGG 37 H00782
SNOMED-CT via HPO 69 258211005 53602002 56558005

Summaries for Hypotrichosis and Recurrent Skin Vesicles

UniProtKB/Swiss-Prot : 75 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 hypotrichosis. 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 hypotrichosis 10.0

Symptoms & Phenotypes for Hypotrichosis and Recurrent Skin Vesicles

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Skin:
vesicles on scalp and skin filled with clear fluid and less than 1cm in diameter
no mucosal vesicles

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

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


Clinical features from OMIM:

613102

Human phenotypes related to Hypotrichosis and Recurrent Skin Vesicles:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 hypotrichosis 32 HP:0001006
2 sparse scalp hair 32 HP:0002209
3 sparse axillary hair 32 HP:0002215
4 aplasia/hypoplasia of the eyebrow 32 HP:0100840
5 skin vesicle 32 HP:0200037
6 sparse or absent eyelashes 32 HP:0200102

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:

41
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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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