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.
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
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
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
Search interest in MC1R
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 United States.
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 United States.
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 United States.
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 France.
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 Portugal.
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 Portugal.
UV sensitivity (MCR1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the MC1R gene.
More info about this panel Portugal.
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 United States.
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 United States.
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 United States.
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 United States.
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 Germany.
Melanoma, cutaneous malignant Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the MC1R gene.
More info about this panel Germany.
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 Germany.
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 Germany.
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 Germany.
Single gene testing MC1R Panel
Germany.
By CeGaT GmbH
This panel specifically test the MC1R gene.
More info about this panel Germany.
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 Spain.
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 United States.
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 United States.
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 United States.
MC1R Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the MC1R gene.
More info about this panel United States.
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 United States.
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 Finland.
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 Spain.
MELANOMA Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the MC1R gene.
More info about this panel Spain.
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 Spain.
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 Canada.
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 Spain.
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 Spain.
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 Spain.
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 Spain.
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 United States.
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 United States.
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 Canada.
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