MC1R gene related symptoms and diseases

All the information presented here about the MC1R gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to MC1R gene

Symptoms // Phenotype % Cases
Melanoma Common - Between 50% and 80% cases
Nevus Uncommon - Between 30% and 50% cases
Neoplasm Uncommon - Between 30% and 50% cases
Neoplasm of the skin Uncommon - Between 30% and 50% cases
Melanocytic nevus Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with MC1R gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Red hair
  • Freckling
  • Rarely - Less than 30% cases

  • Calvarial skull defect
  • Narrow nasal bridge
  • Hypermelanotic macule
  • Deep philtrum
  • Sarcoma
  • Nystagmus

And 57 more phenotypes, you can get all of them using our tools for rare diseases.

Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Rare diseases associated to MC1R gene

Here you will find a list of rare diseases related to the MC1R. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


OCULOCUTANEOUS ALBINISM TYPE 2


Alternate names

OCULOCUTANEOUS ALBINISM TYPE 2 Is also known as oca2, oculocutaneous albinism, type ii, oculocutaneous albinism, tyrosinase-positive, albinism ii

Description

Oculocutaneous albinism type 2 (OCA2) is a type of OCA (see this term) and the most common form of OCA seen in the African population, characterized by variable hypopigmentation of the skin and hair, numerous characteristic ocular changes and misrouting of the optic nerves at the chiasm.

Most common symptoms of OCULOCUTANEOUS ALBINISM TYPE 2

  • Nystagmus
  • Neoplasm
  • Strabismus
  • Visual impairment
  • Myopia


More info about OCULOCUTANEOUS ALBINISM TYPE 2

SOURCES: ORPHANET MESH OMIM

LARGE CONGENITAL MELANOCYTIC NEVUS


Alternate names

LARGE CONGENITAL MELANOCYTIC NEVUS Is also known as gphn, pigmented moles, lcmn, giant congenital pigmented nevus, giant congenital melanocytic nevus, congenital pigmented nevus, giant pigmented hairy nevus, gmn

Description

A large, or giant, congenital melanocytic nevus (LCMN or GCMN) is a pigmented skin lesion of more than 20 cm - or 40 cm- respectively, projected adult diameter, composed of melanocytes, and presenting with an elevated risk of malignant transformation.

Most common symptoms of LARGE CONGENITAL MELANOCYTIC NEVUS

  • Seizures
  • Hypertelorism
  • Neoplasm
  • Failure to thrive
  • Hydrocephalus


More info about LARGE CONGENITAL MELANOCYTIC NEVUS

SOURCES: ORPHANET OMIM

FAMILIAL MELANOMA


Description

Familial melanoma (FM) is a rare inherited form of melanoma characterized by development of histologically confirmed melanoma in two first degrees relatives or more relatives in an affected family.

Most common symptoms of FAMILIAL MELANOMA

  • Retinopathy
  • Dry skin
  • Nevus
  • Abnormality of extrapyramidal motor function
  • Abnormality of the hair


More info about FAMILIAL MELANOMA

SOURCES: ORPHANET

MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 5; CMM5


Description

Malignant melanoma is a neoplasm of pigment-producing cells called melanocytes that occurs most often in the skin, but may also occur in the eyes, ears, gastrointestinal tract, leptomeninges, and oral and genital mucous membranes (summary by Habif, 2010).For a discussion of genetic heterogeneity of malignant melanoma, see {155600}.

Most common symptoms of MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 5; CMM5

  • Neoplasm
  • Melanoma


More info about MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 5; CMM5

SOURCES: OMIM

SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2; SHEP2


Alternate names

SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2; SHEP2 Is also known as rha, hcl2, hair color 2, red hair color, rhc, blond hair/fair skin

Description

Two types of melanin, the red pheomelanin and the black eumelanin, are present in human skin. Valverde et al. (1995) noted that eumelanin is photoprotective, whereas pheomelanin may contribute to UV-induced skin damage because of its potential to generate free radicals in response to ultraviolet radiation. Individuals with red hair have a predominance of pheomelanin in hair and skin and/or a reduced ability to produce eumelanin, which may explain why they fail to tan and are at risk from ultraviolet radiation. In mammals, the relative proportions of pheomelanin and eumelanin are regulated by melanocyte-stimulating hormone (see {176830}), which acts via its receptor (MC1R) on melanocytes to increase the synthesis of eumelanin, and also via the product of the agouti locus (AGTI ), which antagonizes this action.

Most common symptoms of SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2; SHEP2

  • Red hair


More info about SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2; SHEP2

SOURCES: OMIM

INCREASED ANALGESIA FROM KAPPA-OPIOID RECEPTOR AGONIST, FEMALE-SPECIFIC


Most common symptoms of INCREASED ANALGESIA FROM KAPPA-OPIOID RECEPTOR AGONIST, FEMALE-SPECIFIC

  • Pain


More info about INCREASED ANALGESIA FROM KAPPA-OPIOID RECEPTOR AGONIST, FEMALE-SPECIFIC

SOURCES: OMIM


Potential gene panels for MC1R gene

MitoMet®Plus aCGH Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65

More info about this panel

Ocular Albinism and Hermansky Pudlak Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Ocular Albinism and Hermansky Pudlak Panel that also includes the following genes: TYR TYRP1 HPS3 HPS4 SLC45A2 HPS5 DTNBP1 HPS6 LYST GPR143

More info about this panel

Hereditary Melanoma Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Hereditary Melanoma Sequencing Panel that also includes the following genes: BRCA1 BRCA2 TP53 WRN POT1 CDK4 CDKN2A ACD MC1R POLE

More info about this panel

Low-risk Melanoma Susceptibility Gene Panel

France.

By Service de Génétique Gustave Roussy

This panel specifically test the MC1R gene.

More info about this panel

Albinism (NGS panel for 12 genes) Panel

Portugal.

By CGC Genetics Albinism (NGS panel for 12 genes) that also includes the following genes: TYR TYRP1 SLC45A2 LYST GPR143 SLC24A5 LRMDA MC1R MITF MYO5A

More info about this panel

Melanoma, cutaneous malignant 5 (sequence analysis of MC1R gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the MC1R gene.

More info about this panel

UV sensitivity (MCR1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the MC1R gene.

More info about this panel

Oculocutaneous Albinism Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Oculocutaneous Albinism Sequencing Panel with CNV Detection that also includes the following genes: TYR TYRP1 SLC45A2 HPS6 LYST GPR143 SLC24A5 LRMDA MC1R MITF

More info about this panel

Hypopigmentation Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Hypopigmentation Sequencing Panel with CNV Detection that also includes the following genes: SNAI2 SOX10 TYR TYRP1 HPS3 HPS4 SLC45A2 HPS5 DTNBP1 HPS6

More info about this panel

Custom gene seqeuncing panel Panel

United States.

By Molecular Diagnostics Laboratory University of Toledo Medical Center Custom gene seqeuncing panel that also includes the following genes: RYR1 SDHA SDHC EPCAM TP53 TSC1 TSC2 TTR VHL CACNA1S

More info about this panel

Familial Melanoma panel Panel

United States.

By Molecular Diagnostics Laboratory University of Toledo Medical Center Familial Melanoma panel that also includes the following genes: POT1 CDK4 CDKN2A ACD MC1R MITF BAP1

More info about this panel

Albinism Panel

Germany.

By Centogene AG - the Rare Disease Company Albinism that also includes the following genes: TYR TYRP1 SLC45A2 LYST GPR143 MC1R MITF MYO5A OCA2 RAB27A

More info about this panel

Melanoma, cutaneous malignant Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the MC1R gene.

More info about this panel

Familial melanoma Panel Panel

Germany.

By CeGaT GmbH Familial melanoma Panel that also includes the following genes: POT1 CDK4 CDKN2A MC1R MITF BAP1 PTEN RB1

More info about this panel

Albinism Panel Panel

Germany.

By CeGaT GmbH Albinism Panel that also includes the following genes: TYR TYRP1 SLC45A2 LYST GPR143 LRMDA MC1R OCA2

More info about this panel

Albinism Panel Panel

Germany.

By CeGaT GmbH Albinism Panel that also includes the following genes: TYR TYRP1 SLC45A2 LYST GPR143 SLC24A5 LRMDA MC1R OCA2

More info about this panel

Single gene testing MC1R Panel

Germany.

By CeGaT GmbH

This panel specifically test the MC1R gene.

More info about this panel

Albinism Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Albinism that also includes the following genes: TYR TYRP1 SLC45A2 LYST GPR143 LRMDA MC1R MITF MYO5A OCA2

More info about this panel

Albinism NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Albinism NGS Panel that also includes the following genes: TYR TYRP1 SLC45A2 LYST GPR143 MC1R MITF MYO5A OCA2 RAB27A

More info about this panel

Melanoma NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Melanoma NGS Panel that also includes the following genes: BRCA1 BRCA2 TERT TP53 TYR WRN CDK4 CDKN2A ERCC3 MC1R

More info about this panel

Hereditary Cancer NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Hereditary Cancer NGS Panel that also includes the following genes: ROBO2 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1

More info about this panel

MC1R Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the MC1R gene.

More info about this panel

Comprehensive Cancer Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Comprehensive Cancer Panel that also includes the following genes: ROBO2 RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2

More info about this panel

Albinism Panel Panel

Finland.

By Blueprint Genetics Albinism Panel that also includes the following genes: TYR TYRP1 HPS3 HPS4 SLC45A2 HPS5 DTNBP1 HPS6 LYST GPR143

More info about this panel

ALBINISM: NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL ALBINISM: NGS PANEL that also includes the following genes: TYR TYRP1 SLC45A2 HPS6 LYST GPR143 SLC24A5 LRMDA MC1R MITF

More info about this panel

MELANOMA Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the MC1R gene.

More info about this panel

MELANOMA NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL MELANOMA NGS PANEL that also includes the following genes: BRCA1 BRCA2 TERT TP53 WRN POT1 CDK4 CDKN2A CDKN2B TERF2IP

More info about this panel

Albinisim panel Panel

Canada.

By LifeLabs Genetics Albinisim panel that also includes the following genes: TYR TYRP1 SLC45A2 LYST GPR143 LRMDA MC1R MITF MYO5A OCA2

More info about this panel

Cutaneous Malignant Melanoma Type 5 , Sequencing MC1R Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the MC1R gene.

More info about this panel

Cutaneous Malignant Melanoma , Panel Massive Sequencing (NGS) 10 Genes Panel

Spain.

By Reference Laboratory Genetics Cutaneous Malignant Melanoma , Panel Massive Sequencing (NGS) 10 Genes that also includes the following genes: BRCA2 TERT TP53 CDK4 CDKN2A MC1R MITF BAP1 PTEN RB1

More info about this panel

Albinism , Panel Massive Sequencing (NGS) 12 Genes Panel

Spain.

By Reference Laboratory Genetics Albinism , Panel Massive Sequencing (NGS) 12 Genes that also includes the following genes: TYR TYRP1 SLC45A2 LYST GPR143 SLC24A5 LRMDA MC1R MITF MYO5A

More info about this panel

Oculocutaneous Albinism , Panel Massive Sequencing (NGS) 7 Genes Panel

Spain.

By Reference Laboratory Genetics Oculocutaneous Albinism , Panel Massive Sequencing (NGS) 7 Genes that also includes the following genes: TYR TYRP1 SLC45A2 SLC24A5 LRMDA MC1R OCA2

More info about this panel

Tempus xT assay Panel

United States.

By Tempus Labs, Inc. Tempus xT assay that also includes the following genes: BCL6 RIT1 BCL7A BCR ROS1 RPL5 RPS15 RPS6KB1 RUNX1 RXRA

More info about this panel

Tempus xO assay Panel

United States.

By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2

More info about this panel

CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel that also includes the following genes: RNASEL RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2

More info about this panel


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like MMP14 SLC16A1 JPH1

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more