{"Name":"Homocarnosinosis","DiseaseID__c":"GARD:0002730","id":2730,"encodedName":"homocarnosinosis","IsDeleted":false,"Disease_Name_Full__c":"Homocarnosinosis","Xref_IDs__c":"61764000; C0268632; C535328; DOID:0060177; MEDGEN:75703; MONDO:0009351; OMIM:236130","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0009351","Disease_Description__c":"Homocarnosinosis is a metabolic defect characterized by progressive spastic diplegia, intellectual deficit and retinitis pigmentosa. This extremely rare disorder has been reported in only one family, namely a woman and three of her children. The latter showed progressive spastic diplegia, mental retardation and retinitis pigmentosa but their mother was symptom free. It is therefore uncertain whether there is a relationship between the biochemical defect and the clinical symptoms. Inheritance in the reported family seems to be autosomal dominant.","GARD_Name__c":"Homocarnosinosis","GARD_Synonym__c":"homocarnosinase deficiency","Curated_Disease_Description_Source__c":"MONDO:0009351","Curated_Disease_Description__c":"Homocarnosinosis is a metabolic defect characterized by progressive spastic diplegia, intellectual deficit and retinitis pigmentosa. Some people with Homocarnosinosis show progressive spastic diplegia, intellectual disability and retinitis pigmentosa even when an affected parent is symptom free. It is therefore uncertain whether there is a relationship between the biochemical defect and the clinical symptoms. Inheritance seems to be autosomal dominant.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":null,"Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0009351","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"Homocarnosinosis is a metabolic defect characterized by progressive spastic diplegia, intellectual deficit and retinitis pigmentosa. Some people with Homocarnosinosis show progressive spastic diplegia, intellectual disability and retinitis pigmentosa even when an affected parent is symptom free. It is therefore uncertain whether there is a relationship between the biochemical defect and the clinical symptoms. Inheritance seems to be autosomal dominant.","Curated_Disease_Description_Source__c":"MONDO:0009351","GARD_Synonym__c":"homocarnosinase deficiency","Name":"Homocarnosinosis","estimateUsa":""}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1858479"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1210","Source__c":"Gene Review","Xref__c":"NBK1210"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=61764000","Source__c":"MONDO:0009351","Xref__c":"61764000"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535328","Source__c":"MONDO:0009351","Xref__c":"C535328"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0268632","Source__c":"C0268632","Xref__c":"C0268632"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=75703","Source__c":"C0268632","Xref__c":"MEDGEN:75703"},{"URL__c":"https://www.omim.org/entry/236130","Source__c":"C0268632; MONDO:0009351","Xref__c":"OMIM:236130"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060177","Source__c":"MONDO:0009351","Xref__c":"DOID:0060177"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009351","Source__c":"GARD:0002730","Xref__c":"MONDO:0009351"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:236130","Feature__r":{"HPO_Description__c":"An abnormality of the pigmentation of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001000","HPO_Synonym__c":"Abnormal pigmentation; Abnormal skin color; Abnormal skin pigmentation; Abnormality of pigmentation; Abnormality of skin pigmentation; Pigmentary changes; Pigmentary skin changes; Pigmentation anomaly","HPO_Name__c":"Abnormality of skin pigmentation","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:236130","Feature__r":{"HPO_Description__c":"The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001249","HPO_Synonym__c":"Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation","HPO_Name__c":"Intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:236130","Feature__r":{"HPO_Description__c":"An increased concentration of carnosine in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003167","HPO_Synonym__c":"High urine carnosine levels","HPO_Name__c":"Carnosinuria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:236130","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"}},{"Provided_By__c":"OMIM:236130","Feature__r":{"HPO_Description__c":"Complete loss of the ability to move the lower limbs accompanied by spasticity of the lower limbs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001258","HPO_Synonym__c":"Spastic paraplegia, lower limb","HPO_Name__c":"Spastic paraplegia","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{},"synonyms":["homocarnosinase deficiency"]}