Hypotrichosis 3; Hypt3

Description

Hypotrichosis simplex can affect all body hair (generalized; see {605389}) or be limited to the scalp. Usually patients with the scalp-limited form of hypotrichosis present with normal hair at birth; they experience a progressive, gradual loss of scalp hair beginning at the middle of the first decade and leading to almost complete loss of scalp hair by the third decade. A few sparse, fine, short hairs remain in some individuals. Body hair, beard, eyebrows, axillary hair, teeth, and nails develop normally. Light and electron microscopy of hairs from patients with early hypotrichosis simplex revealed no structural changes, whereas hairs from patients with advanced hypotrichosis showed focal areas of defective cuticular structure. Men and women are equally affected (summary by Betz et al., 2000).For a discussion of genetic heterogeneity of nonsyndromic hypotrichosis, see HYPT1 (OMIM ).

Clinical Features

Phenotypes and symptoms related to Hypotrichosis 3; Hypt3

  • Hyperhidrosis
  • Sparse hair
  • Hypotrichosis
  • Sparse scalp hair
  • Hypotrichosis of the scalp

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 3; Hypt3 Is also known as hypotrichosis simplex of the scalp 2, htss2.

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 3; Hypt3 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hypotrichosis 3 (sequence analysis of KRT74 gene).

By CGC Genetics (Portugal).

KRT74
Specificity
100 %
Genes
100 %
Ectodermal dysplasia (NGS panel for 8 genes).

By CGC Genetics (Portugal).

EDARADD, KRT74, EDAR, EDA, GJB6, HOXC13, KRT85, MSX1
Specificity
13 %
Genes
100 %
Hypotrichosis (NGS panel of 10 genes).

By CGC Genetics (Portugal).

RPL21, SNRPE, LPAR6, APCDD1, CDSN, LIPH, DSG4, KRT71, KRT74, HR
Specificity
10 %
Genes
100 %
Ectodermal dysplasia (NGS panel for 8 genes).

By CGC Genetics (Portugal).

EDARADD, KRT74, EDAR, EDA, GJB6, HOXC13, KRT85, MSX1
Specificity
13 %
Genes
100 %
Hypotrichosis (NGS panel of 10 genes).

By CGC Genetics (Portugal).

RPL21, SNRPE, LPAR6, APCDD1, CDSN, LIPH, DSG4, KRT71, KRT74, HR
Specificity
10 %
Genes
100 %
Hypotrichosis Comprehensive panel.

By Connective Tissue Gene Tests (United States).

RPL21, SNRPE, LPAR6, APCDD1, CDSN, LIPH, DSG4, KRT71, KRT74, HR
Specificity
10 %
Genes
100 %
Ectodermal dysplasia Comprehensive panel.

By Connective Tissue Gene Tests (United States).

EDARADD, KDF1, KRT74, EDAR, EDA, GJB6, HOXC13, KRT85, MSX1
Specificity
12 %
Genes
100 %
Ectodermal dysplasia Deletion / Duplication panel.

By Connective Tissue Gene Tests (United States).

EDARADD, KDF1, KRT74, EDAR, EDA, GJB6, HOXC13, KRT85, MSX1
Specificity
12 %
Genes
100 %

You can get up to 11 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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