{"Name":"Histidine transport defect","DiseaseID__c":"GARD:0002708","id":2708,"encodedName":"histidine-transport-defect","IsDeleted":false,"Disease_Name_Full__c":"Histidine transport defect","Xref_IDs__c":"78311009; C0268642; C538321; MEDGEN:82825; MONDO:0009346; OMIM:235830; ORPHA:2158","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":2,"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":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"ORPHA:2158","Disease_Description__c":"A rare disorder of histidine metabolism characterized by histidinuria without histidinemia due to impaired intestinal and renal tubular absorption of histidine. Developmental delay, intellectual disability, seizures, and mild dysmorphic features have been reported in association. There have been no further descriptions in the literature since 1992.","GARD_Name__c":"Histidine transport defect","GARD_Synonym__c":"histidinuria due to a renal tubular defect; histidinuria-renal tubular defect syndrome; hyperhistidinuria; renal histidinuria","Curated_Disease_Description_Source__c":"ORPHA:2158","Curated_Disease_Description__c":"A rare disorder of histidine metabolism characterized by histidinuria without histidinemia due to impaired intestinal and renal tubular absorption of histidine. Developmental delay, intellectual disability, seizures, and mild dysmorphic features have been reported in association. There have been no further descriptions in the literature since 1992.","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:2158","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009346","ORPHANET_ID__c":"ORPHA:2158","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de histidinuria-defecto tubular renal","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de histidinuria-defecto tubular renal","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:68367","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 disorder of histidine metabolism characterized by histidinuria without histidinemia due to impaired intestinal and renal tubular absorption of histidine. Developmental delay, intellectual disability, seizures, and mild dysmorphic features have been reported in association. There have been no further descriptions in the literature since 1992.","Curated_Disease_Description_Source__c":"ORPHA:2158","GARD_Synonym__c":"histidinuria due to a renal tubular defect; histidinuria-renal tubular defect syndrome; hyperhistidinuria; renal histidinuria","Name":"Histidine transport defect","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:2158"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:2158"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=82825","Source__c":"C0268642","Xref__c":"MEDGEN:82825"},{"URL__c":"https://www.omim.org/entry/235830","Source__c":"C0268642; MONDO:0009346; ORPHA:2158","Xref__c":"OMIM:235830"},{"URL__c":"https://www.orpha.net/en/disease/detail/2158","Source__c":"C0268642; MONDO:0009346; ORPHA:2158","Xref__c":"ORPHA:2158"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0268642","Source__c":"C0268642","Xref__c":"C0268642"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C538321","Source__c":"MONDO:0009346","Xref__c":"C538321"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009346","Source__c":"GARD:0002708","Xref__c":"MONDO:0009346"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=78311009","Source__c":"C0268642","Xref__c":"78311009"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2158","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased breadth of the nasal bridge (and with it, the nasal root).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000431","HPO_Synonym__c":"Broad nasal bridge; Broad nasal root; Broadened nasal bridge; Increased breadth of bridge of nose; Increased breadth of nasal bridge; Increased width of bridge of nose; Increased width of nasal bridge; Nasal bridge broad; Nasal bridge, wide; Wide bridge of nose; Wide nasal bridge; Widened nasal bridge","HPO_Name__c":"Wide nasal bridge","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2158","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008666","HPO_Name__c":"Impaired histidine renal tubular absorption","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2158","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Atrophy of the cortex of the cerebrum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002120","HPO_Synonym__c":"Cerebral cortex atrophy; Cortical atrophy; Decrease in size of the outer layer of the brain due to loss of brain cells","HPO_Name__c":"Cerebral cortical atrophy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2158","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000343","HPO_Synonym__c":"Elongated philtrum; Increased height of philtrum; Increased length of philtrum; Increased vertical dimension of philtrum; Vertical hyperplasia of philtrum","HPO_Name__c":"Long philtrum","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2158","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000407","HPO_Synonym__c":"Hearing loss, sensorineural; Sensorineural deafness; Sensorineural hearing loss","HPO_Name__c":"Sensorineural hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2158","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002750","HPO_Synonym__c":"Delayed bone age; Delayed bone age before puberty; Delayed bone maturation; Delayed skeletal development; Retarded bone age; Skeletal maturation retardation","HPO_Name__c":"Delayed skeletal maturation","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2158","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A decreased concentration of glucose in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001943","HPO_Synonym__c":"Hypoglycaemia; Low blood sugar","HPO_Name__c":"Hypoglycemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:2158","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increase in size of the ventricular system of the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002119","HPO_Synonym__c":"Cerebral ventricular dilatation; Dilated cerebral ventricle; Dilated cerebral ventricles; Dilated ventricles; Enlarged cerebral ventricles; Enlarged ventricles; Enlarged ventricular system; Large cerebral ventricles and cisternae; Ventricular dilatation","HPO_Name__c":"Ventriculomegaly","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2158","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormally round shape of the middle phalanx of the finger.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005844","HPO_Synonym__c":"Rounded middle bone of finger","HPO_Name__c":"Rounded middle phalanx of finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2158","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased concentration of histidine in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002927","HPO_Synonym__c":"Elevated histidine in urine; High urine histidine levels","HPO_Name__c":"Histidinuria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:2158","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Short (hypoplastic) middle phalanx of finger, affecting one or more fingers.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005819","HPO_Synonym__c":"Brachymesophalangy; Disproportionately short middle phalanges; Hypoplasia of the middle phalanges of the hand; Hypoplastic middle phalanges; Hypoplastic middle phalanx; Midphalangeal hypoplasia; Short middle bone of finger; Short middle phalanges; Shortened middle finger bones","HPO_Name__c":"Short middle phalanx of finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2158","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000400","HPO_Synonym__c":"Large ears; Large pinnae","HPO_Name__c":"Macrotia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2158","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the toenail.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001800","HPO_Synonym__c":"Underdeveloped toenails","HPO_Name__c":"Hypoplastic toenails","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2158","HPO_Frequency__c":"Very frequent (80-99%)","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"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Inborn Errors of Metabolism"],"Specialist":["Genetics","Pediatrics"]},"synonyms":["histidinuria due to a renal tubular defect"," histidinuria-renal tubular defect syndrome"," hyperhistidinuria"," renal histidinuria"]}