Monilethrix

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 Universität Leipzig
  • Research area/topic::
    

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

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 %

Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Search Engine

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