Monilethrix

Description

Monilethrix is a rare genodermatosis characterized by a hair shaft dysplasia resulting in hypotrichosis.

Clinical Features

Top most frequent phenotypes and symptoms related to Monilethrix

  • Intellectual disability
  • Cataract
  • Cognitive impairment
  • Abnormality of the dentition
  • Hypotrichosis
  • Fine hair
  • Abnormality of the nail
  • Schizophrenia
  • Brittle hair
  • Abnormal eyelash morphology

And another 4 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

Monilethrix Is also known as moniliform hair syndrome.

Researches and researchers

Doctors, researchs, and experts related to Monilethrix extracted from public data.

Monilethrix Experts map



Current Researchs and researchers

  • LEIPZIG — Pr Thomas MAGIN

    Investigator of research project

    • Institution/s:
      — TRM Universit√§t Leipzig
    • Research area/topic::

      Keratin diseases : Keratin-dependent regulation of protein biosynthesis and cytoskeletal organization during epithelial differentiation



Mendelian

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Monilethrix Recommended genes panels

Panel Name, Specifity and genes Tested/covered
DSG4.

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

DSG4
Specificity
100 %
Genes
25 %
Hypotrichosis simplex, type 6 (sequence analysis of DSG4 gene).

By CGC Genetics (Portugal).

DSG4
Specificity
100 %
Genes
25 %
Hypotrichosis (NGS panel of 10 genes).

By CGC Genetics (Portugal).

RPL21, SNRPE, LPAR6, APCDD1, CDSN, LIPH, DSG4, KRT71, KRT74, HR
Specificity
10 %
Genes
25 %
Hypotrichosis (NGS panel of 10 genes).

By CGC Genetics (Portugal).

RPL21, SNRPE, LPAR6, APCDD1, CDSN, LIPH, DSG4, KRT71, KRT74, HR
Specificity
10 %
Genes
25 %
Hypotrichosis Comprehensive panel.

By Connective Tissue Gene Tests (United States).

RPL21, SNRPE, LPAR6, APCDD1, CDSN, LIPH, DSG4, KRT71, KRT74, HR
Specificity
10 %
Genes
25 %
Hypotrichosis NGS panel.

By Connective Tissue Gene Tests (United States).

RPL21, SNRPE, LPAR6, APCDD1, CDSN, LIPH, DSG4, KRT71, KRT74, HR
Specificity
10 %
Genes
25 %
Hypotrichosis Deletion / Duplication panel.

By Connective Tissue Gene Tests (United States).

RPL21, SNRPE, LPAR6, APCDD1, CDSN, LIPH, DSG4, KRT71, KRT74, HR
Specificity
10 %
Genes
25 %
Hypotrichosis type 6.

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

DSG4
Specificity
100 %
Genes
25 %

We have 19 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Search Engine

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