LOR gene related symptoms and diseases
All the information presented here about the LOR gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to LOR gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Palmoplantar keratoderma | Very Common - Between 80% and 100% cases |
| Erythema | Very Common - Between 80% and 100% cases |
| Hearing impairment | Uncommon - Between 30% and 50% cases |
| Hypergranulosis | Uncommon - Between 30% and 50% cases |
| Honeycomb palmoplantar keratoderma | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with LOR gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Autoamputation
- Orthokeratosis
- Facial erythema
- Thick nail
- Amniotic constriction ring
- Parakeratosis
- Congenital nonbullous ichthyosiform erythroderma
- Sensorineural hearing impairment
And 7 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to LOR gene
Here you will find a list of rare diseases related to the LOR. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
KERATODERMA HEREDITARIUM MUTILANS WITH ICHTHYOSIS
Alternate names
KERATODERMA HEREDITARIUM MUTILANS WITH ICHTHYOSIS Is also known as keratoderma-ichthyosiform dermatosis-elevated beta-glucuronidase syndrome, loricrin keratoderma, vohwinkel syndrome with ichthyosis, camisa disease, mutilating keratoderma with ichthyosis
Description
Keratoderma hereditarium mutilans with ichthyosis is a diffuse palmoplantar keratoderma characterized by honeycomb palmoplantar hyperkeratosis associated with pseudoainhum of the fifth digit of the hand, ichthyosis and deafness. Keratoderma hereditarium mutilans with ichthyosis follows an autosomal dominant mode of transmission.
Most common symptoms of KERATODERMA HEREDITARIUM MUTILANS WITH ICHTHYOSIS
- Hearing impairment
- Sensorineural hearing impairment
- Hyperkeratosis
- Erythema
- Nail dystrophy
More info about KERATODERMA HEREDITARIUM MUTILANS WITH ICHTHYOSIS
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 LOR
Potential gene panels for LOR gene
LOR Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the LOR gene.
More info about this panel Germany.
LOR. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the LOR gene.
More info about this panel Spain.
Progressive Symmetric Erythrokeratoderma (sequence analysis of LOR gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the LOR gene.
More info about this panel Portugal.
Ichthyosis Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Ichthyosis Deletion / Duplication panel that also includes the following genes: ST14 STS SULT2B1 TGM1 TGM5 ALOXE3 ABCA12 CASP14 CHST8 CDSN
More info about this panel United States.
Ichthyosis NGS panel Panel
United States.
By Connective Tissue Gene Tests Ichthyosis NGS panel that also includes the following genes: ST14 STS SULT2B1 TGM1 TGM5 ALOXE3 ABCA12 CASP14 CHST8 CDSN
More info about this panel United States.
Ichthyosis Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Ichthyosis Comprehensive panel that also includes the following genes: ST14 STS SULT2B1 TGM1 TGM5 ALOXE3 ABCA12 CASP14 CHST8 CDSN
More info about this panel United States.
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.
Vohwinkel syndrome with ichthyosis Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the LOR gene.
More info about this panel Germany.
Ichthyoses and related disorders of cornification Panel Panel
Germany.
By CeGaT GmbH Ichthyoses and related disorders of cornification Panel that also includes the following genes: SLC27A4 SNAP29 ST14 STS TAT TGM1 TGM5 VPS33B ATP2C1 NSDHL
More info about this panel Germany.
LOR Panel
Austria.
By Division Human Genetics Medical University Innsbruck
This panel specifically test the LOR gene.
More info about this panel Austria.
LOR Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the LOR gene.
More info about this panel United States.
Ichthyosis Panel Panel
Finland.
By Blueprint Genetics Ichthyosis Panel that also includes the following genes: SLC27A4 STS TGM1 ALOXE3 ABCA12 MBTPS2 SPINK5 MPLKIP CDSN SUMF1
More info about this panel Finland.
Palmoplantar Keratoderma Panel Panel
Finland.
By Blueprint Genetics Palmoplantar Keratoderma Panel that also includes the following genes: WNT10A SERPINB7 MBTPS2 TRPV3 SLURP1 KRT6C CTSC AAGAB DSG1 DSP
More info about this panel Finland.
Keratoderma hereditarium mutilans with ichthyosis Panel
Spain.
By Bioarray
This panel specifically test the LOR gene.
More info about this panel Spain.
ERYTHROKERATODERMIA, PROGRESSIVE SYMMETRIC, DARIER GOTTRON TYPE Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the LOR gene.
More info about this panel Spain.
Vohwinkel with Ichthyosis Syndrome , Sequencing LOR Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the LOR gene.
More info about this panel Spain.
Congenital Ichthyosis and related disorders , Panel Massive Sequencing (NGS) 33 Genes Panel
Spain.
By Reference Laboratory Genetics Congenital Ichthyosis and related disorders , Panel Massive Sequencing (NGS) 33 Genes that also includes the following genes: SLC27A4 SNAP29 ST14 STS TGM1 TGM5 ALOXE3 ABCA12 SPINK5 MPLKIP
More info about this panel Spain.
Erythrokeratodermia Variabilis et Progressiva , Panel Massive Sequencing (NGS) GJB4, GJB3, GJA1, LOR Genes Panel
Spain.
By Reference Laboratory Genetics Erythrokeratodermia Variabilis et Progressiva , Panel Massive Sequencing (NGS) GJB4, GJB3, GJA1, LOR Genes that also includes the following genes: GJA1 GJB4 LOR
More info about this panel Spain.
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