{"Name":"Hawkinsinuria","DiseaseID__c":"GARD:0005668","id":5668,"encodedName":"hawkinsinuria","IsDeleted":false,"Disease_Name_Full__c":"Hawkinsinuria","Xref_IDs__c":"414380008; C2931042; C535845; DOID:0111362; HP:0034457; MEDGEN:419319; MONDO:0007700; OMIM:140350; ORPHA:2118","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":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0007700","Disease_Description__c":"A rare inborn error of tyrosine metabolism characterized by failure to thrive, persistent metabolic acidosis, fine and sparse hair, and excretion of the unusual cyclic amino acid metabolite, hawkinsin ((2-l-cystein-S-yl, 4-dihydroxycyclohex-5-en-1-yl)acetic acid), in the urine.","GARD_Name__c":"Hawkinsinuria","GARD_Synonym__c":"4-alpha-hydroxyphenylpyruvate hydroxylase deficiency; 4-hppd deficiency; 4-hydroxyphenylpyruvic acid dioxygenase deficiency; hawkinsin high in urine; hpd-gene related hawkinsinuria","Curated_Disease_Description_Source__c":"GARD:0005668","Curated_Disease_Description__c":"Hawkinsinuria is an inherited disorder, characterized by the inability to break down the amino acid tyrosine. This results in the finding of certain amino acids in the urine, such as hawkinsin. The features of this condition usually appear around the time infants are weaned off breast milk and begin to use formula. The signs and symptoms may include: failure to gain weight and grow at the expected rate (failure to thrive), abnormally high acid levels in the blood (acidosis), and fine or sparse hair. Hawkinsinuria is caused by genetic changes in the HPD gene and is inherited in an autosomal dominant manner.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:2118","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007700","ORPHANET_ID__c":"ORPHA:2118","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hawkinsinuria","Spanish_Description_Source__c":"ORPHA:2118","Spanish_Description__c":"Es un error congénito del metabolismo de la tirosina poco frecuente caracterizado por fallo de medro, acidosis metabólica persistente, cabello fino y escaso y excreción del inusual metabolito de un aminoácido cíclico, hawkinsina (ácido 2-L-cisteína-S-il-1-4-dihidroxiciclohex-5-en-1-il-acético), en la orina.","Spanish_Disease_Name__c":"hawkinsinuria","Spanish_GARD_Synonym__c":"deficiencia de 4-alfa-hidroxifenilpiruvato hidroxilasa","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":"Hawkinsinuria is an inherited disorder, characterized by the inability to break down the amino acid tyrosine. This results in the finding of certain amino acids in the urine, such as hawkinsin. The features of this condition usually appear around the time infants are weaned off breast milk and begin to use formula. The signs and symptoms may include: failure to gain weight and grow at the expected rate (failure to thrive), abnormally high acid levels in the blood (acidosis), and fine or sparse hair. Hawkinsinuria is caused by genetic changes in the HPD gene and is inherited in an autosomal dominant manner.","Curated_Disease_Description_Source__c":"GARD:0005668","GARD_Synonym__c":"4-alpha-hydroxyphenylpyruvate hydroxylase deficiency; 4-hppd deficiency; 4-hydroxyphenylpyruvic acid dioxygenase deficiency; hawkinsin high in urine; hpd-gene related hawkinsinuria","Name":"Hawkinsinuria","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Metabolic Support UK","Website__c":"https://www.metabolicsupportuk.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":"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":"Neonatal","Provided_By__c":"ORPHA:2118"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:2118"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C2931042"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0005668","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2931042","Source__c":"C2931042","Xref__c":"C2931042"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111362","Source__c":"MONDO:0007700","Xref__c":"DOID:0111362"},{"URL__c":"https://www.omim.org/entry/140350","Source__c":"C2931042; MONDO:0007700; ORPHA:2118","Xref__c":"OMIM:140350"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=414380008","Source__c":"C2931042; MONDO:0007700","Xref__c":"414380008"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=419319","Source__c":"C2931042","Xref__c":"MEDGEN:419319"},{"URL__c":"https://www.orpha.net/en/disease/detail/2118","Source__c":"C2931042; MONDO:0007700; ORPHA:2118","Xref__c":"ORPHA:2118"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535845","Source__c":"MONDO:0007700","Xref__c":"C535845"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0034457","Source__c":"C2931042","Xref__c":"HP:0034457"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007700","Source__c":"GARD:0005668","Xref__c":"MONDO:0007700"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"HPD","GHR_URL__c":"https://medlineplus.gov/genetics/gene/hpd","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2118","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001508","HPO_Synonym__c":"Faltering weight; FTT; Postnatal failure to thrive; Weight faltering","HPO_Name__c":"Failure to thrive","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2118","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased concentration of 4-hydroxyphenylacetic acid in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003607","HPO_Synonym__c":"Elevated urine 4-hydroxyphenylacetic acid level","HPO_Name__c":"4-hydroxyphenylacetic aciduria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:2118","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Deficiency of thyroid hormone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000821","HPO_Synonym__c":"Low T4; Underactive thyroid","HPO_Name__c":"Hypothyroidism","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2118","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased relative concentration of 4-hydroxyphenylpyruvic acid in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003161","HPO_Synonym__c":"Hydroxyphenylpyruvic aciduria","HPO_Name__c":"4-Hydroxyphenylpyruvic aciduria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:2118","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced density of hairs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008070","HPO_Synonym__c":"Decreased hair growth; Decreased hair growth on body; Hypotrichosis; Marked hypotrichosis; Sparse hair; Sparse hair since birth","HPO_Name__c":"Sparse hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2118","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001252","HPO_Synonym__c":"Low muscle tone; Low or weak muscle tone; Muscle hypotonia; Muscular hypotonia","HPO_Name__c":"Hypotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2118","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any deviation from the normal concentration of tyrosine in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010917","HPO_Name__c":"Abnormal circulating tyrosine concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:2118","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001942","HPO_Name__c":"Metabolic acidosis","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:2118","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hair that is fine or thin to the touch.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002213","HPO_Synonym__c":"Fine hair; Fine hair shaft; Fine hair texture; Thin hair; Thin hair shaft; Thin hair texture; Thinned hair","HPO_Name__c":"Fine hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Inborn Errors of Metabolism"],"Specialist":["Genetics","Pediatrics"]},"synonyms":["4-alpha-hydroxyphenylpyruvate hydroxylase deficiency"," 4-hppd deficiency"," 4-hydroxyphenylpyruvic acid dioxygenase deficiency"," hawkinsin high in urine"," hpd-gene related hawkinsinuria"]}