KRT83 gene related symptoms and diseases

All the information presented here about the KRT83 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to KRT83 gene

Symptoms // Phenotype % Cases
Hyperkeratosis Uncommon - Between 30% and 50% cases
Abnormality of the nail Uncommon - Between 30% and 50% cases
Follicular hyperkeratosis Uncommon - Between 30% and 50% cases
Erythema Uncommon - Between 30% and 50% cases
Brittle hair Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with KRT83 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Fine hair
  • Hypotrichosis
  • Rarely - Less than 30% cases

  • Perifollicular erythema
  • Palmoplantar hyperkeratosis
  • Perifollicular hyperkeratosis
  • Abnormal hair pattern
  • Palmoplantar keratoderma
  • Nail dysplasia

And 15 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to KRT83 gene

Here you will find a list of rare diseases related to the KRT83. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


MONILETHRIX


Alternate names

MONILETHRIX Is also known as moniliform hair syndrome

Description

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

Most common symptoms of MONILETHRIX

  • Intellectual disability
  • Cataract
  • Cognitive impairment
  • Abnormality of the dentition
  • Hypotrichosis


More info about MONILETHRIX

SOURCES: ORPHANET

MONILETHRIX; MNLIX


Description

Individuals with monilethrix have normal hair at birth, but within the first few months of life develop fragile, brittle hair that tends to fracture and produce varying degrees of dystrophic alopecia. In the mildest forms, only the occipital regions of the scalp are involved; however, in severe forms the eyebrows, eyelashes, and secondary sexual hair may also be involved. Follicular hyperkeratosis with predilection for the scalp, nape of neck, and extensor surfaces of the upper arm and thighs is also a characteristic finding in these patients. Light microscopic examination is diagnostic and reveals elliptical nodes of normal thickness and intermittent constrictions (internodes) at which the hair easily breaks. There may be spontaneous improvement with time, especially during puberty and pregnancy, but the condition never resolves completely (summary by Zlotogorski et al., 2006).An autosomal recessive form of monilethrix-like congenital hypotrichosis (see {607903}) is caused by mutation in the DSG4 gene (OMIM ). The clinical picture of autosomal recessive monilethrix is more severe than the dominant form, with more extensive alopecia of the scalp, body, and limbs, and a papular rash involving the extremities and periumbilical region (Zlotogorski et al., 2006).The term monilethrix derives from the Latin word for necklace and the Greek for hair (Schweizer, 2006).

Most common symptoms of MONILETHRIX; MNLIX

  • Abnormality of metabolism/homeostasis
  • Alopecia
  • Hyperkeratosis
  • Erythema
  • Skin rash


More info about MONILETHRIX; MNLIX

SOURCES: OMIM

ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 5; EKVP5


Most common symptoms of ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 5; EKVP5

  • Hyperkeratosis
  • Palmoplantar hyperkeratosis


More info about ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 5; EKVP5

SOURCES: OMIM

PROGRESSIVE SYMMETRIC ERYTHROKERATODERMIA


Alternate names

PROGRESSIVE SYMMETRIC ERYTHROKERATODERMIA Is also known as darier-gottron disease, progressive symmetric erythrokeratodermia, gottron type, erythrokeratodermia progressiva symmetrica

Most common symptoms of PROGRESSIVE SYMMETRIC ERYTHROKERATODERMIA

  • Erythema
  • Palmoplantar keratoderma
  • Skin plaque


More info about PROGRESSIVE SYMMETRIC ERYTHROKERATODERMIA

SOURCES: ORPHANET


Potential gene panels for KRT83 gene

KRT83 Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the KRT83 gene.

More info about this panel

Erythrokeratodermias and related disorders Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Erythrokeratodermias and related disorders Comprehensive panel that also includes the following genes: DSP KDSR GJA1 GJB4 KRT83 LOR

More info about this panel

Erythrokeratodermias and related disorders NGS panel Panel

United States.

By Connective Tissue Gene Tests Erythrokeratodermias and related disorders NGS panel that also includes the following genes: DSP KDSR GJA1 GJB4 KRT83 LOR

More info about this panel

Erythrokeratodermias and related disorders Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Erythrokeratodermias and related disorders Deletion / Duplication panel that also includes the following genes: DSP KDSR GJA1 GJB4 KRT83 LOR

More info about this panel

Ectodermal dysplasia (including hypotrichosis and hypoplastic hair) Panel Panel

Germany.

By CeGaT GmbH Ectodermal dysplasia (including hypotrichosis and hypoplastic hair) Panel that also includes the following genes: BCS1L SNRPE SOX18 ST14 TRPS1 IFT122 WNT10A EDARADD SHOC2 LPAR6

More info about this panel

KRT83 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the KRT83 gene.

More info about this panel


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