{"Name":"Progressive retinal dystrophy due to retinol transport defect","DiseaseID__c":"GARD:0017529","id":17529,"encodedName":"progressive-retinal-dystrophy-due-to-retinol-transport-defect","IsDeleted":false,"Disease_Name_Full__c":"Progressive retinal dystrophy due to retinol transport defect","Xref_IDs__c":"C3554593; MEDGEN:767507; MONDO:0014060; OMIM:615147; ORPHA:352718","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"ORPHA:352718","Disease_Description__c":"Progressive retinal dystrophy due to retinol transport defect is a rare, genetic, metabolite absorption and transport disorder characterized by progressive rod-cone dystrophy, usually presenting with impaired night vision in childhood, progressive loss of visual acuity and severe retinol deficiency without keratomalacia. Association with ocular colobomas, severe acne and hypercholesterolemia has been reported.","GARD_Name__c":"Progressive retinal dystrophy due to retinol transport defect","GARD_Synonym__c":"retinal dystrophy, iris coloboma, and comedogenic acne syndrome; retinol dystrophy-iris coloboma-comedogenic acne syndrome","Curated_Disease_Description_Source__c":"ORPHA:352718","Curated_Disease_Description__c":"Progressive retinal dystrophy due to retinol transport defect is a rare, genetic, metabolite absorption and transport disorder characterized by progressive rod-cone dystrophy, usually presenting with impaired night vision in childhood, progressive loss of visual acuity and severe retinol deficiency without keratomalacia. Association with ocular colobomas, severe acne and hypercholesterolemia has been reported.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:352718","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014060","ORPHANET_ID__c":"ORPHA:352718","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Distrofia retiniana progresiva por defectos del transporte de retinol","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"distrofia retiniana progresiva por defectos del transporte de retinol","Spanish_GARD_Synonym__c":"distrofia retiniana-coloboma del iris-síndrome de acné comedogénico","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":"Progressive retinal dystrophy due to retinol transport defect is a rare, genetic, metabolite absorption and transport disorder characterized by progressive rod-cone dystrophy, usually presenting with impaired night vision in childhood, progressive loss of visual acuity and severe retinol deficiency without keratomalacia. Association with ocular colobomas, severe acne and hypercholesterolemia has been reported.","Curated_Disease_Description_Source__c":"ORPHA:352718","GARD_Synonym__c":"retinal dystrophy, iris coloboma, and comedogenic acne syndrome; retinol dystrophy-iris coloboma-comedogenic acne syndrome","Name":"Progressive retinal dystrophy due to retinol transport defect","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Foundation Fighting Blindness","Website__c":"https://www.fightingblindness.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":"Inborn Errors of Metabolism","Tag_Category__c":"Cause;Disease Category","category_description":"Inherited metabolic diseases, or inborn errors of metabolism, are a group of genetic diseases that affect the ability of the body's cells to convert food into energy.","curated_tag_name":"Inherited metabolic diseases"},{"Tag_Name__c":"Retinal","Tag_Category__c":"Account;Specialist","curated_tag_name":"Retinal disorders"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:352718"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/352718","Source__c":"C3554593; MONDO:0014060","Xref__c":"ORPHA:352718"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=767507","Source__c":"C3554593","Xref__c":"MEDGEN:767507"},{"URL__c":"https://www.omim.org/entry/615147","Source__c":"C3554593; MONDO:0014060; ORPHA:352718","Xref__c":"OMIM:615147"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3554593","Source__c":"C3554593","Xref__c":"C3554593"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014060","Source__c":"GARD:0017529","Xref__c":"MONDO:0014060"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"RBP4","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:615147","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The concentration of retinol-binding protein in the blood circulation is below the lower limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031032","HPO_Name__c":"Decreased circulating retinol-binding protein concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:615147","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Difficulty distinguishing between yellow and blue, possible related to dysfunction of the S photopigment.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000552","HPO_Synonym__c":"Blue yellow color blindness; Blue-yellow dyschromatopsia; Dyschromatopsia, blue-yellow","HPO_Name__c":"Tritanomaly","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615147","Feature__r":{"HPO_Description__c":"In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001643","HPO_Synonym__c":"Ductus arteriosus; Patent ductus Botalli; PDA; Persistent arterial duct; Persistent ductus arteriosus","HPO_Name__c":"Patent ductus arteriosus","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615147","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of acne in which open and closed comedones comprise the majority of the lesions, with substantially fewer papules and pustules.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040137","HPO_Name__c":"Comedonal acne","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615147","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Absent reflectivity of the fovea, which normally is a bright pinpoint of light that is observed to move sideways or up and down in response to movement of the opthalmoscope.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030825","HPO_Synonym__c":"Foveal reflex absent; Loss of foveal reflex","HPO_Name__c":"Absent foveal reflex","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615147","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Inability to see well at night or in poor light.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000662","HPO_Synonym__c":"Night blindness; Night-blindness; Poor night vision","HPO_Name__c":"Nyctalopia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615147","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007663","HPO_Synonym__c":"Decreased central vision; Decreased clarity of vision; Decreased visual acuity; Poor visual acuity","HPO_Name__c":"Reduced visual acuity","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615147","Feature__r":{"HPO_Description__c":"Retinal dystrophy is an abnormality of the retina associated with a hereditary process. Retinal dystrophies are defined by their predominantly monogenic inheritance and they are frequently associated with loss or dysfunction of photoreceptor cells as a primary or secondary event.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000556","HPO_Synonym__c":"Breakdown of light-sensitive cells in back of eye","HPO_Name__c":"Retinal dystrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615147","Feature__r":{"HPO_Description__c":"A nonspecific term denoting wasting, especially as a result of degeneration, of the peripheral retinal pigment epithelium (RPE) and neurosensory retinal cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200070","HPO_Name__c":"Peripheral retinal atrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615147","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A congenital abnormality of the cornea in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000482","HPO_Synonym__c":"Cornea of eye less than 10mm in diameter; Decreased corneal diameter","HPO_Name__c":"Microcornea","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615147","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":"OMIM:615147","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A skin condition characterized by excessive development of keratin in hair follicles, resulting in rough, cone-shaped, elevated papules resulting from closure of hair follicles with a white plug of sebum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007502","HPO_Synonym__c":"Hyperkeratosis follicularis","HPO_Name__c":"Follicular hyperkeratosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615147","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A coloboma of the iris.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000612","HPO_Synonym__c":"Cat eye; Coloboma of iris; Coloboma of the iris; Keyhole iris","HPO_Name__c":"Iris coloboma","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Inborn Errors of Metabolism"],"Specialist":["Genetics","Ophthalmology","Retinal","Pediatrics"],"Account":["Retinal"]},"synonyms":["retinal dystrophy, iris coloboma, and comedogenic acne syndrome"," retinol dystrophy-iris coloboma-comedogenic acne syndrome"]}