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.
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
Search interest in KRT83
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 Germany.
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 United States.
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 United States.
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 United States.
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 Germany.
KRT83 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the KRT83 gene.
More info about this panel United States.
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