Monilethrix

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

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

Genes related to Monilethrix

DSG4
KRT81
KRT83
KRT86

View recommended genes panels

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 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 %

You can get up to 19 more panels with our dedicated tool

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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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