{"Name":"Acute intermittent porphyria","DiseaseID__c":"GARD:0005732","id":5732,"encodedName":"acute-intermittent-porphyria","IsDeleted":false,"Disease_Name_Full__c":"Acute intermittent porphyria","Xref_IDs__c":"234422006; C0162565; C84536; D017118; DOID:3890; MEDGEN:56452; MONDO:0008294; NBK1193; OMIM:176000; ORPHA:79276","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":6,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":1,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":2,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0008294","Disease_Description__c":"A form of acute hepatic porphyria characterized by the occurrence of neurovisceral attacks without cutaneous symptoms.","GARD_Name__c":"Acute intermittent porphyria","GARD_Synonym__c":"acute porphyria; aip; aip - acute intermittent porphyria; hmbs deficiency; hydroxymethylbilane synthase deficiency; intermittent acute porphyria; intermittent acute porphyria syndrome; pbgd deficiency; porphobilinogen deaminase deficiency; porphyria intermittent acute; porphyria, swedish type; pyrroloporphyria; swedish porphyria; ups deficiency; uroporphyrinogen synthase deficiency","Curated_Disease_Description_Source__c":"GARD:0005732","Curated_Disease_Description__c":"Acute intermittent porphyria (AIP) is one of the liver (hepatic) porphyrias. AIP is caused by low levels of porphobilinogen deaminase (PBGD), an enzyme also often called hydroxymethylbilane synthase. The low levels of PBGD are generally not sufficient to cause symptoms; however, activating factors such as hormones, drugs, and dietary changes may trigger symptoms. Although most individuals with AIP never develop symptoms, symptomatic individuals typically present with abdominal pain with nausea.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Teenager and as an Adult","SourceID__c":"ORPHA:79276","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008294","ORPHANET_ID__c":"ORPHA:79276","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Porfiria aguda intermitente","Spanish_Description_Source__c":"ORPHA:79276","Spanish_Description__c":"Es una forma grave poco frecuente de porfiria hepática aguda caracterizada por la ocurrencia de crisis neuroviscerales sin afectación cutánea.","Spanish_Disease_Name__c":"porfiria aguda intermitente","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":"Acute intermittent porphyria (AIP) is one of the liver (hepatic) porphyrias. AIP is caused by low levels of porphobilinogen deaminase (PBGD), an enzyme also often called hydroxymethylbilane synthase. The low levels of PBGD are generally not sufficient to cause symptoms; however, activating factors such as hormones, drugs, and dietary changes may trigger symptoms. Although most individuals with AIP never develop symptoms, symptomatic individuals typically present with abdominal pain with nausea.","Curated_Disease_Description_Source__c":"GARD:0005732","GARD_Synonym__c":"acute porphyria; aip; aip - acute intermittent porphyria; hmbs deficiency; hydroxymethylbilane synthase deficiency; intermittent acute porphyria; intermittent acute porphyria syndrome; pbgd deficiency; porphobilinogen deaminase deficiency; porphyria intermittent acute; porphyria, swedish type; pyrroloporphyria; swedish porphyria; ups deficiency; uroporphyrinogen synthase deficiency","Name":"Acute intermittent porphyria","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"United Porphyrias Association","Website__c":"https://www.porphyria.org/"},{"Account_Name__c":"Sociedad Mexicana para Porfiria"},{"Account_Name__c":"Metabolic Support UK","Website__c":"https://www.metabolicsupportuk.org"},{"Account_Name__c":"American Liver Foundation","Website__c":"https://liverfoundation.org/"},{"Account_Name__c":"American Porphyria Foundation","Website__c":"https://porphyriafoundation.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":"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":"Nephrology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Kidney diseases affect the kidneys' ability to remove waste and water from blood, create urine, or make certain hormones.","curated_tag_name":"Kidney diseases"},{"Tag_Name__c":"Gastroenterology","Tag_Category__c":"Disease Category;Specialist","category_description":"Gastrointestinal diseases, or digestive diseases, affect the esophagus, stomach, small intestine, large intestine, liver, gallbladder, or pancreas.","curated_tag_name":"Gastrointestinal diseases"},{"Tag_Name__c":"Dermatology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Skin diseases, or integumentary system diseases, affect the skin, hair, nails, sweat glands, or oil glands.","curated_tag_name":"Skin 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":"Peripheral Neuropathy","Tag_Category__c":"Account","curated_tag_name":"Peripheral neuropathy"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:79276"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:79276"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0162565"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0005732","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1193","Source__c":"Gene Review","Xref__c":"NBK1193"},{"URL__c":"https://www.omim.org/entry/176000","Source__c":"C0162565; MONDO:0008294; ORPHA:79276","Xref__c":"OMIM:176000"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A3890","Source__c":"MONDO:0008294","Xref__c":"DOID:3890"},{"URL__c":"https://www.orpha.net/en/disease/detail/79276","Source__c":"C0162565; MONDO:0008294; ORPHA:79276","Xref__c":"ORPHA:79276"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=234422006","Source__c":"C0162565; MONDO:0008294","Xref__c":"234422006"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=56452","Source__c":"C0162565","Xref__c":"MEDGEN:56452"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C84536","Source__c":"C0162565; MONDO:0008294","Xref__c":"C84536"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0162565","Source__c":"C0162565","Xref__c":"C0162565"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C017118","Source__c":"C0162565; MONDO:0008294","Xref__c":"D017118"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008294","Source__c":"GARD:0005732","Xref__c":"MONDO:0008294"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"HMBS","GHR_URL__c":"https://medlineplus.gov/genetics/gene/hmbs","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:79276","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Chronic pain in the limbs with no clear focal etiology.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009763","HPO_Synonym__c":"Limb pain","HPO_Name__c":"Limb pain","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79276","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Lack of clarity and coherence of thought, perception, understanding, or action.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001289","HPO_Synonym__c":"Confusion; 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Pseudobulbar paralysis is characterized clinically by dysarthria, dysphonia, and dysphagia with bifacial paralysis, and may be accompanied by Pseudobulbar behavioral symptoms such as enforced crying and laughing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007024","HPO_Synonym__c":"Pseudobulbar palsy; Pseudobulbar syndrome","HPO_Name__c":"Pseudobulbar paralysis","Feature_System__c":"Nervous System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79276","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormally increased excretion of porphyrins in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010473","HPO_Name__c":"Porphyrinuria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:79276","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002354","HPO_Synonym__c":"Amnesia; Forgetfulness; Memory impairment; Memory loss; Memory problems; Poor memory","HPO_Name__c":"Memory impairment","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79276","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The complete absence of wakefulness and consciousness, which is evident through a lack of response to any form of external stimuli.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001259","HPO_Synonym__c":"Coma; Persistent vegetative state; Stupor; Unconsciousness","HPO_Name__c":"Coma","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79276","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000975","HPO_Synonym__c":"Diaphoresis; Excessive sweating; Increased sweating; Profuse sweating; Sweating; Sweating profusely; Sweating, increased","HPO_Name__c":"Hyperhidrosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79276","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal dark color of the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040319","HPO_Name__c":"Dark urine","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79276","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007178","HPO_Synonym__c":"Peripheral motor neuropathy","HPO_Name__c":"Motor polyneuropathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79276","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Distention of the abdomen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003270","HPO_Synonym__c":"Abdominal bloating; Abdominal distension; Abdominal swelling; Belly bloating; Bloating; Distended abdomen","HPO_Name__c":"Abdominal distention","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79276","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009830","HPO_Synonym__c":"Peripheral nerve damage; Peripheral neuritis","HPO_Name__c":"Peripheral neuropathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79276","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A rapid heartrate that exceeds the range of the normal resting heartrate for age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001649","HPO_Synonym__c":"Fast heart rate; Heart racing; Racing heart","HPO_Name__c":"Tachycardia","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79276","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The feeling and belief that one is being targeted or is a focus of negative or untoward actions, overt or covert, from others. The affected individual expresses a concern that people are in general against the individual and are engaging in subtle behaviors to make things difficult for them. The origins of such thinking may arise from real events and become amplified over time. Paranoia may also arise in the absence of any action or interaction between the person and their environment.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011999","HPO_Synonym__c":"Paranoia","HPO_Name__c":"Paranoia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79276","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Nausea is a commonly encountered symptom that has been defined as an unpleasant painless subjective feeling that one will imminently vomit. Vomiting has been defined as the forceful expulsion of the contents of the stomach, duodenum, or jejunum through the oral cavity. While nausea and vomiting are often thought to exist on a temporal continuum, this is not always the case. There are situations when severe nausea may be present without emesis and less frequently, when emesis may be present without preceding nausea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002017","HPO_Synonym__c":"Nausea and vomiting","HPO_Name__c":"Nausea and vomiting","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79276","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003418","HPO_Synonym__c":"Back pain","HPO_Name__c":"Back pain","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Neurology","Nephrology","Gastroenterology","Dermatology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Neurology","Nephrology","Gastroenterology","Dermatology","Pediatrics"],"Account":["Nephrology","Dermatology","Peripheral Neuropathy"]},"synonyms":["acute porphyria"," aip"," aip - acute intermittent porphyria"," hmbs deficiency"," hydroxymethylbilane synthase deficiency"," intermittent acute porphyria"," intermittent acute porphyria syndrome"," pbgd deficiency"," porphobilinogen deaminase deficiency"," porphyria intermittent acute"," porphyria, swedish type"," pyrroloporphyria"," swedish porphyria"," ups deficiency"," uroporphyrinogen synthase deficiency"]}