1. Mendelian
  2. Genes
  3. DSG1-AS1

DSG1-AS1 gene related symptoms and diseases

All the information presented here about the DSG1-AS1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to DSG1-AS1 gene

Symptoms // Phenotype % Cases
Alopecia Very Common - Between 80% and 100% cases
Abnormality of the hair Very Common - Between 80% and 100% cases
Pili torti Very Common - Between 80% and 100% cases
Follicular hyperkeratosis Very Common - Between 80% and 100% cases
Parakeratosis Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with DSG1-AS1 gene alterations may also develop some of the following symptoms and phenotypes:

  • Commonly - More than 50% cases

  • Brittle hair
  • Coarse hair
  • Sparse eyelashes
  • Sparse and thin eyebrow
  • Hyperhidrosis
  • Hypohidrosis
  • Palmoplantar keratoderma
  • Hypotrichosis

And 5 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to DSG1-AS1 gene

Here you will find a list of rare diseases related to the DSG1-AS1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


HYPOTRICHOSIS 6; HYPT6

Alternate names

HYPOTRICHOSIS 6; HYPT6 Is also known as monilethrix-like hypotrichosis, lah, hypotrichosis, localized, autosomal recessive, hypotrichosis, localized, autosomal recessive 1, htl, lah1

Description

Localized autosomal recessive hypotrichosis is characterized by fragile hairs that break easily, leaving short, sparse scalp hairs. The disorder affects the trunk and extremities as well as the scalp, and the eyebrows and eyelashes may also be involved, whereas beard, pubic, and axillary hairs are largely spared. In addition, patients can develop hyperkeratotic follicular papules, erythema, and pruritus in affected areas. In some patients with congenital hypotrichosis, monilethrix-like hairs showing elliptical nodes have been observed (summary by Schaffer et al., 2006). Genetic Heterogeneity of Autosomal Recessive Localized HypotrichosisLAH2 (HYPT7 ) is caused by mutation in the LIPH gene (OMIM ) on chromosome 3q27, and LAH3 (HYPT8 ) is caused by mutation in the LPAR6 (P2RY5) gene (OMIM ) on chromosome 13q14.12-q14.2.See also hypotrichosis and recurrent skin vesicles (OMIM ), which is caused by mutation in the DSC3 gene (OMIM ).

Most common symptoms of HYPOTRICHOSIS 6; HYPT6

  • Alopecia
  • Hyperhidrosis
  • Hyperkeratosis
  • Erythema
  • Papule


More info about HYPOTRICHOSIS 6; HYPT6

SOURCES: MESH OMIM



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like ZNF711 HESX1 SGCB CRB1 SMAD2 IL17F GRIN2B