Hereditary hypotrichosis with recurrent skin vesicles

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 13
OrphanetNr: 217407
OMIM Id: 613102
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Alopecia
 -Rare genetic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
(HPO:0200102) Sparse or absent eyelashes 64 / 7739
2
(HPO:0100840) Aplasia/Hypoplasia of the eyebrow 117 / 7739
3
(HPO:0002209) Sparse scalp hair 59 / 7739
4
(HPO:0001006) Hypotrichosis 219 / 7739
5
(HPO:0200037) Skin vesicle 102 / 7739
6
(HPO:0002215) Sparse axillary hair 21 / 7739
7
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
8
(OMIM) Normal hair follicles 1 / 7739
9
(OMIM) Normal sebaceous glands 1 / 7739
10
(OMIM) Slight follicular plugging with mild presence of perivascular and periadnexal inflammatory cells 1 / 7739
11
(OMIM) Vesicles on scalp and skin filled with clear fluid and less than 1cm in diameter 1 / 7739
12
(OMIM) No mucosal vesicles 1 / 7739
13
(OMIM) Sparse to absent body hair 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Ayub et al. (2009) studied a consanguineous Afghan family in which 3 sisters, 12 to 18 years of age, and their 5-year-old brother displayed features of hereditary hypotrichosis, associated with vesicles on the scalp and skin. At birth, ...
Molecular genetics OMIM In a consanguineous Afghan family with hypotrichosis and recurrent skin vesicles mapping to chromosome 18q12.1, Ayub et al. (2009) sequenced the DSG4 gene (607892), which had previously been associated with hypotrichosis (LAH1; 607903), but found no mutations. They ...