{"Name":"Corneal-cerebellar syndrome","DiseaseID__c":"GARD:0001525","id":1525,"encodedName":"corneal-cerebellar-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Corneal-cerebellar syndrome","Xref_IDs__c":"720750004; C1849087; C535472; MEDGEN:341379; MONDO:0010063; OMIM:271310; ORPHA:3177","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":6,"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":2,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0010063","Disease_Description__c":"A rare, genetic, neurological disorder characterized by the association of slowly progressive spinocerebellar degeneration and corneal dystrophy, manifesting with bilateral corneal opacities (which lead to severe visual impairment), mild intellectual disability, ataxia, gait disturbances, and tremor. Additional manifestations include facial dysmorphism (i.e. triangular face, ptosis, low-set, posteriorly angulated ears, and micrognathia), as well as mild upper motor neuron involvement with hypertonia, lower limb hyperreflexia and extensor plantar responses. There have been no further descriptions in the literature since 1985.","GARD_Name__c":"Corneal-cerebellar syndrome","GARD_Synonym__c":"corneal cerebellar syndrome; corneal dystrophy with spinocerebellar degeneration; der kaloustian jarudi khoury syndrome; der kaloustian-jarudi-khoury syndrome; spinocerebellar degeneration and corneal dystrophy; spinocerebellar degeneration and corneal dystrophy syndrome; spinocerebellar degeneration-corneal dystrophy syndrome","Curated_Disease_Description_Source__c":"MONDO:0010063","Curated_Disease_Description__c":"A rare, genetic, neurological disorder characterized by the association of slowly progressive spinocerebellar degeneration and corneal dystrophy, manifesting with bilateral corneal opacities (which lead to severe visual impairment), mild intellectual disability, ataxia, gait disturbances, and tremor. Additional manifestations include facial dysmorphism (i.e. triangular face, ptosis, low-set, posteriorly angulated ears, and micrognathia), as well as mild upper motor neuron involvement with hypertonia, lower limb hyperreflexia and extensor plantar responses. There have been no further descriptions in the literature since 1985.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Infant and as a Child","SourceID__c":"ORPHA:3177","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010063","ORPHANET_ID__c":"ORPHA:3177","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de degeneración espinocerebelosa-distrofia corneal","Spanish_Description_Source__c":"ORPHA:3177","Spanish_Description__c":"Es un trastorno neurológico de origen genético y poco frecuente, caracterizado por la asociación de degeneración espinocerebelosa lentamente progresiva y distrofia corneal que se manifiesta con opacidades corneales bilaterales (que conducen a una grave disfunción visual), leve discapacidad intelectual, ataxia, trastornos de la marcha y temblor. Otras manifestaciones adicionales incluyen dismorfia facial (cara triangular, ptosis, pabellones auriculares de implantación baja rotados posteriormente y micrognatia), así como leve afectación de la motoneurona superior con hipertonía, hiperreflexia de las extremidades inferiores y reflejo plantar extensor. No ha habido más casos descritos en la literatura desde 1985.","Spanish_Disease_Name__c":"síndrome de degeneración espinocerebelosa-distrofia corneal","Spanish_GARD_Synonym__c":"síndrome de der kaloustian-jarudi-khoury","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":"A rare, genetic, neurological disorder characterized by the association of slowly progressive spinocerebellar degeneration and corneal dystrophy, manifesting with bilateral corneal opacities (which lead to severe visual impairment), mild intellectual disability, ataxia, gait disturbances, and tremor. Additional manifestations include facial dysmorphism (i.e. triangular face, ptosis, low-set, posteriorly angulated ears, and micrognathia), as well as mild upper motor neuron involvement with hypertonia, lower limb hyperreflexia and extensor plantar responses. There have been no further descriptions in the literature since 1985.","Curated_Disease_Description_Source__c":"MONDO:0010063","GARD_Synonym__c":"corneal cerebellar syndrome; corneal dystrophy with spinocerebellar degeneration; der kaloustian jarudi khoury syndrome; der kaloustian-jarudi-khoury syndrome; spinocerebellar degeneration and corneal dystrophy; spinocerebellar degeneration and corneal dystrophy syndrome; spinocerebellar degeneration-corneal dystrophy syndrome","Name":"Corneal-cerebellar syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Ataxia Foundation","Website__c":"https://ataxia.org/"},{"Account_Name__c":"Ataxia UK","Website__c":"https://www.ataxia.org.uk/"}],"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":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Ophthalmology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Ataxia","Tag_Category__c":"Account","curated_tag_name":"Ataxia"},{"Tag_Name__c":"Anterior segment of Eye","Tag_Category__c":"Specialist","curated_tag_name":"Front part of eye disease"},{"Tag_Name__c":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:3177"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:3177"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1849087","Source__c":"C1849087","Xref__c":"C1849087"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=720750004","Source__c":"C1849087; MONDO:0010063","Xref__c":"720750004"},{"URL__c":"https://www.omim.org/entry/271310","Source__c":"C1849087; MONDO:0010063; ORPHA:3177","Xref__c":"OMIM:271310"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535472","Source__c":"MONDO:0010063","Xref__c":"C535472"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=341379","Source__c":"C1849087","Xref__c":"MEDGEN:341379"},{"URL__c":"https://www.orpha.net/en/disease/detail/3177","Source__c":"C1849087; MONDO:0010063; ORPHA:3177","Xref__c":"ORPHA:3177"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010063","Source__c":"GARD:0001525","Xref__c":"MONDO:0010063"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:3177","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007006","HPO_Name__c":"Dorsal column degeneration","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3177","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A functional anomaly of the upper motor neuron. The upper motor neurons are neurons of the primary motor cortex which project to the brainstem and spinal chord via the corticonuclear, corticobulbar and corticospinal (pyramidal) tracts. They are involved in control of voluntary movements. Dysfunction leads to weakness, impairment of fine motor movements, spasticity, hyperreflexia and abnormal pyramidal signs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002493","HPO_Synonym__c":"Corticospinal tract dysfunction; Pyramidal tract dysfunction","HPO_Name__c":"Upper motor neuron dysfunction","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3177","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002503","HPO_Synonym__c":"Degeneration of the spinocerebellar tracts; Spinocerebellar degeneration","HPO_Name__c":"Spinocerebellar tract degeneration","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3177","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A reduction of corneal clarity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007957","HPO_Synonym__c":"Corneal clouding; Corneal opacities; Reduction of corneal clarity; Scarring or clouding of the cornea of the eye","HPO_Name__c":"Corneal opacity","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3177","HPO_Frequency__c":"Frequent (30-79%)","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:3177","HPO_Frequency__c":"Frequent (30-79%)","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:3177","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Ataxia refers to impaired coordination of voluntary muscle movement. Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001251","HPO_Synonym__c":"Cerebellar ataxia","HPO_Name__c":"Ataxia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3177","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Moderate intellectual disability (ID) is defined as a type of ID characterized by moderately sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 35-49.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002342","HPO_Synonym__c":"Intellectual disability, moderate; IQ between 34 and 49; Mental retardation, moderate; Moderate mental deficiency; Moderate mental retardation","HPO_Name__c":"Moderate intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3177","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002073","HPO_Synonym__c":"Cerebellar ataxia, progressive; Progressive ataxia","HPO_Name__c":"Progressive cerebellar ataxia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Ophthalmology","Anterior segment of Eye","Neurodevelopmental disabilities","Pediatrics"],"Account":["Ataxia"]},"synonyms":["corneal cerebellar syndrome"," corneal dystrophy with spinocerebellar degeneration"," der kaloustian jarudi khoury syndrome"," der kaloustian-jarudi-khoury syndrome"," spinocerebellar degeneration and corneal dystrophy"," spinocerebellar degeneration and corneal dystrophy syndrome"," spinocerebellar degeneration-corneal dystrophy syndrome"]}