1. Mendelian
  2. Rare Diseases
  3. MARIE UNNA HEREDITARY HYPOTRICHOSIS

Marie Unna Hereditary Hypotrichosis

Table of contents:

Description

Marie Unna hereditary hypotrichosis (MUHH) is a rare autosomal dominant hair loss disorder characterized by the absence or scarcity of scalp hair, eyebrows, and eyelashes at birth; coarse and wiry hair during childhood; and progressive hair loss beginning around puberty.

Genes related to Marie Unna Hereditary Hypotrichosis

  • HR
  • EPS8L3

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Marie Unna Hereditary Hypotrichosis

  • Alopecia
  • Cleft lip
  • Hypotrichosis
  • Oral cleft
  • Hirsutism
  • Sparse scalp hair
  • Sparse and thin eyebrow
  • Sparse eyelashes
  • Coarse hair
  • Polycystic ovaries

And another 7 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

Marie Unna Hereditary Hypotrichosis Is also known as hypotrichosis, marie unna type, marie unna hereditary hypotrichosis 1, muhh, muhh1, hypotrichosis, marie unna type, 1, marie unna congenital hypotrichosis.

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.

Marie Unna Hereditary Hypotrichosis Recommended genes panels

Panel Name, Specifity and genes Tested/covered
HR. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

HR
Specificity
100 %
Genes
50 %
Alopecia universalis (sequence analysis of HR gene).

By CGC Genetics (Portugal).

HR
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 %
Alopecia universalis congenita and Atrichia with papular lesions Comprehensive Test.

By Connective Tissue Gene Tests (United States).

HR
Specificity
100 %
Genes
50 %

You can get up to 16 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Rare Disease Symptoms Checker

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