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.

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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

SOURCES: MESH OMIM ORPHANET

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 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

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

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

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

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

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

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

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

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

LOR Panel

Austria.

By Division Human Genetics Medical University Innsbruck

This panel specifically test the LOR gene.

More info about this panel

LOR Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the LOR gene.

More info about this panel

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

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

Keratoderma hereditarium mutilans with ichthyosis Panel

Spain.

By Bioarray

This panel specifically test the LOR gene.

More info about this panel

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

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

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

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


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