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  3. HYPOTRICHOSIS 6; HYPT6

Hypotrichosis 6; Hypt6

Table of contents:

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 ).

Genes related to Hypotrichosis 6; Hypt6

  • DSG1-AS1
  • DSG4

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Hypotrichosis 6; Hypt6

  • Alopecia
  • Hyperhidrosis
  • Hyperkeratosis
  • Erythema
  • Papule
  • Pruritus
  • Hypotrichosis
  • Palmoplantar keratoderma
  • Hypohidrosis
  • Sparse and thin eyebrow

And another 8 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Alternative names

Hypotrichosis 6; Hypt6 Is also known as monilethrix-like hypotrichosis, lah, hypotrichosis, localized, autosomal recessive, hypotrichosis, localized, autosomal recessive 1, htl, lah1.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Hypotrichosis 6; Hypt6 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
DSG4.

By Institute for Human Genetics University Clinic Freiburg (Germany).

DSG4
Specificity
100 %
Genes
50 %
Hypotrichosis simplex, type 6 (sequence analysis of DSG4 gene).

By CGC Genetics (Portugal).

DSG4
Specificity
100 %
Genes
50 %
Hypotrichosis (NGS panel of 10 genes).

By CGC Genetics (Portugal).

RPL21, SNRPE, LPAR6, APCDD1, CDSN, LIPH, DSG4, KRT71, KRT74, HR
Specificity
10 %
Genes
50 %
Hypotrichosis (NGS panel of 10 genes).

By CGC Genetics (Portugal).

RPL21, SNRPE, LPAR6, APCDD1, CDSN, LIPH, DSG4, KRT71, KRT74, HR
Specificity
10 %
Genes
50 %
Hypotrichosis Comprehensive panel.

By Connective Tissue Gene Tests (United States).

RPL21, SNRPE, LPAR6, APCDD1, CDSN, LIPH, DSG4, KRT71, KRT74, HR
Specificity
10 %
Genes
50 %
Hypotrichosis NGS panel.

By Connective Tissue Gene Tests (United States).

RPL21, SNRPE, LPAR6, APCDD1, CDSN, LIPH, DSG4, KRT71, KRT74, HR
Specificity
10 %
Genes
50 %
Hypotrichosis Deletion / Duplication panel.

By Connective Tissue Gene Tests (United States).

RPL21, SNRPE, LPAR6, APCDD1, CDSN, LIPH, DSG4, KRT71, KRT74, HR
Specificity
10 %
Genes
50 %
Hypotrichosis type 6.

By Centogene AG - the Rare Disease Company (Germany).

DSG4
Specificity
100 %
Genes
50 %

You can get up to 7 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

MESH OMIM Genetic Syndrome Finder

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