{"Name":"Cone monochromatism","DiseaseID__c":"GARD:0000917","id":917,"encodedName":"cone-monochromatism","IsDeleted":false,"Disease_Name_Full__c":"Cone monochromatism","Xref_IDs__c":"24704003; C0339537; C536238; DOID:0050679; MEDGEN:87386; MONDO:0010563; OMIM:303700; ORPHA:16","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0010563","Disease_Description__c":"Blue cone monochromatism (BCM) is a recessive X-linked disease characterized by severely impaired color discrimination, low visual acuity, nystagmus, and photophobia, due to dysfunction of the red (L) and green (M) cone photoreceptors. BCM is as an incomplete form of achromatopsia (see this term).","GARD_Name__c":"Cone monochromatism","GARD_Synonym__c":"atypical x-linked achromatopsia; bcm; blue cone monochromacy; blue cone monochromacy, x-linked recessive; blue cone monochromatism; blue-mono-cone-monochromatic type colorblindness; color blindness blue mono cone monochromatic type; color blindness, blue monocone monochromatic type; colour blindness, blue monocone monochromatic type; incomplete achromatopsia; s cone monochromacy; s cone monochromatism; s-cone monochromacy; x-chromosome-linked achromatopsia; x-linked incomplete achromatopsia","Curated_Disease_Description_Source__c":"GARD:0000917","Curated_Disease_Description__c":"Blue cone monochromatism is an inherited vision disorder. In this condition, the light sensitive cells in the eye used for color vision (cones) are affected. There are three types of cones that respond to one of three colors: red, green, and blue. When people have Blue cone monochromatism, both the red and green cones do not function properly, while the blue cones work normally. Signs and symptoms may include impaired color vision, low visual acuity (clarity or sharpness), photophobia (light sensitivity), myopia (nearsightedness), and nystagmus (fast, uncontrollable movements of the eye). Blue cone monochromatism is caused by genetic changes in either the OPN1LW or the OPN1MW gene(s) and is inherited in an X-linked manner.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"as an Infant","SourceID__c":"ORPHA:16","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010563","ORPHANET_ID__c":"ORPHA:16","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Monocromatismo de conos azules","Spanish_Description_Source__c":"ORPHA:16","Spanish_Description__c":"El monocromatismo de conos azules (MCA) es una enfermedad recesiva ligada al cromosoma X que se caracteriza por una incapacidad grave para discriminar los colores, baja agudeza visual, nistagmo y fotofobia a causa de la disfunción de los conos fotorreceptores del rojo (L) y el verde (M). El MCA es una forma incompleta de acromatopsia (ver este término).","Spanish_Disease_Name__c":"monocromatismo de conos azules","Spanish_GARD_Synonym__c":"acromatopsia atípica ligada al cromosoma x; acromatopsia incompleta ligada al cromosoma x; monocromacia de conos azules; monocromacia de conos s; monocromatismo de conos s","Category_Linearization__c":"ORPHA:97966","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Blue cone monochromatism is an inherited vision disorder. In this condition, the light sensitive cells in the eye used for color vision (cones) are affected. There are three types of cones that respond to one of three colors: red, green, and blue. When people have Blue cone monochromatism, both the red and green cones do not function properly, while the blue cones work normally. Signs and symptoms may include impaired color vision, low visual acuity (clarity or sharpness), photophobia (light sensitivity), myopia (nearsightedness), and nystagmus (fast, uncontrollable movements of the eye). Blue cone monochromatism is caused by genetic changes in either the OPN1LW or the OPN1MW gene(s) and is inherited in an X-linked manner.","Curated_Disease_Description_Source__c":"GARD:0000917","GARD_Synonym__c":"atypical x-linked achromatopsia; bcm; blue cone monochromacy; blue cone monochromacy, x-linked recessive; blue cone monochromatism; blue-mono-cone-monochromatic type colorblindness; color blindness blue mono cone monochromatic type; color blindness, blue monocone monochromatic type; colour blindness, blue monocone monochromatic type; incomplete achromatopsia; s cone monochromacy; s cone monochromatism; s-cone monochromacy; x-chromosome-linked achromatopsia; x-linked incomplete achromatopsia","Name":"Cone monochromatism","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Alliance for Eye and Vision Research","Website__c":"http://www.eyeresearch.org/"},{"Account_Name__c":"Foundation Fighting Blindness","Website__c":"https://www.fightingblindness.org/"},{"Account_Name__c":"The Vision of Children Foundation","Website__c":"https://www.visionofchildren.org/"},{"Account_Name__c":"BCM Families Foundation","Website__c":"https://www.blueconemonochromacy.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Ophthalmology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Retinal","Tag_Category__c":"Account;Specialist","curated_tag_name":"Retinal disorders"},{"Tag_Name__c":"Neuro-Ophthalmology","Tag_Category__c":"Specialist","curated_tag_name":"Neuro-ophthalmic diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:16"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0339537"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0000917","Source__c":"RareSource"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=24704003","Source__c":"MONDO:0010563","Xref__c":"24704003"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050679","Source__c":"MONDO:0010563","Xref__c":"DOID:0050679"},{"URL__c":"https://www.omim.org/entry/303700","Source__c":"C0339537; MONDO:0010563; ORPHA:16","Xref__c":"OMIM:303700"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0339537","Source__c":"C0339537","Xref__c":"C0339537"},{"URL__c":"https://www.orpha.net/en/disease/detail/16","Source__c":"C0339537; MONDO:0010563; ORPHA:16","Xref__c":"ORPHA:16"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=87386","Source__c":"C0339537","Xref__c":"MEDGEN:87386"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536238","Source__c":"MONDO:0010563","Xref__c":"C536238"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010563","Source__c":"GARD:0000917","Xref__c":"MONDO:0010563"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=789676005","Source__c":"C0339537","Xref__c":"789676005"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0007939","Source__c":"C0339537","Xref__c":"HP:0007939"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"OPN1MW","GHR_URL__c":"https://medlineplus.gov/genetics/gene/opn1mw","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"OPN1LW","GHR_URL__c":"https://medlineplus.gov/genetics/gene/opn1lw","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["X-linked recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:16","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An anomaly in the ability to discriminate between or recognize colors.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000551","HPO_Synonym__c":"Abnormal color vision; Abnormality of color vision; Disturbed color vision","HPO_Name__c":"Color vision defect","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:16","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A form of monochromacy in which vision is derived from the remaining preserved blue (S) cones and rod photoreceptors.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007939","HPO_Synonym__c":"Blue cone monochromatism; Incomplete achromatopsia; S-cone monochromacy","HPO_Name__c":"Blue cone monochromacy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:16","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A uniocular condition in which there is fixation of an object by a point other than the fovea. This point adopts the principal visual direction. The degree of the eccentric fixation is defined by its distance from the fovea in degrees.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025549","HPO_Synonym__c":"Eccentric fixation","HPO_Name__c":"Eccentric visual fixation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:16","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000540","HPO_Synonym__c":"Farsightedness; Hyperopia; Long-sightedness","HPO_Name__c":"Hypermetropia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:16","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000613","HPO_Synonym__c":"Extreme sensitivity of the eyes to light; Light hypersensitivity; Photodysphoria","HPO_Name__c":"Photophobia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:16","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The term corneal dystrophy embraces a heterogenous group of bilateral genetically determined non-inflammatory corneal diseases that are restricted to the cornea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001131","HPO_Name__c":"Corneal dystrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:16","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000505","HPO_Synonym__c":"Impaired vision; Loss of eyesight; Poor vision; Visual impairment","HPO_Name__c":"Visual impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:16","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000639","HPO_Synonym__c":"Involuntary, rapid, rhythmic eye movements","HPO_Name__c":"Nystagmus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:16","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030619","HPO_Name__c":"Reduced OCT-measured foveal thickness","HPO_Feature_Type__c":"Imaging_CT"}},{"Provided_By__c":"ORPHA:16","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000512","HPO_Synonym__c":"Abnormal electroretinography; Abnormal ERG; ERG abnormal","HPO_Name__c":"Abnormal electroretinogram","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:16","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000545","HPO_Synonym__c":"Close sighted; Near sighted; Near sightedness; Nearsightedness","HPO_Name__c":"Myopia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:16","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any deviation from the normal pigmentation of the retina.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007703","HPO_Synonym__c":"Abnormality of retinal pigment epithelium; Abnormality of retinal pigmentation; Abnormality of RPE; Retinal pigmentary anomaly","HPO_Name__c":"Abnormal retinal pigmentation","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Ophthalmology","Retinal","Neuro-Ophthalmology","Pediatrics"],"Account":["Retinal"]},"synonyms":["atypical x-linked achromatopsia"," bcm"," blue cone monochromacy"," blue cone monochromacy, x-linked recessive"," blue cone monochromatism"," blue-mono-cone-monochromatic type colorblindness"," color blindness blue mono cone monochromatic type"," color blindness, blue monocone monochromatic type"," colour blindness, blue monocone monochromatic type"," incomplete achromatopsia"," s cone monochromacy"," s cone monochromatism"," s-cone monochromacy"," x-chromosome-linked achromatopsia"," x-linked incomplete achromatopsia"]}