{"Name":"Variegate porphyria","DiseaseID__c":"GARD:0007848","id":7848,"encodedName":"variegate-porphyria","IsDeleted":false,"Disease_Name_Full__c":"Variegate porphyria","Xref_IDs__c":"58275005; C0162532; C85219; D046350; DOID:4346; MEDGEN:58118; MONDO:0008297; NBK121283; OMIM:176200; ORPHA:79473","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:0008297","Disease_Description__c":"A rare acute hepatic porphyria characterized by neurovisceral attacks and/or skin lesions.","GARD_Name__c":"Variegate porphyria","GARD_Synonym__c":"dean-barnes syndrome; mixed porphyria; porphyria variegata; porphyria, south african type; ppox deficiency; protocoproporphyria; protoporphyrinogen oxidase deficiency; south african genetic porphyria; south african porphyria; vp; vp - variegate porphyria","Curated_Disease_Description_Source__c":"GARD:0007848","Curated_Disease_Description__c":"Variegate porphyria (VP) causes the abnormal production of heme, an important part of the protein in blood that carries oxygen throughout our bodies. It is used in all the body's organs. Symptoms of VP usually begin in adulthood and are different from person to person. Symptoms may include sun sensitivity and the development of skin blisters and sores when exposed to sunlight. Some people with VP have episodes (acute attacks) of severe stomach pain, nausea and vomiting. In some cases, muscle weakness, anxiety, and seizures may occur. Variegate porphyria is caused by genetic changes in the PPOX gene and is inherited in an autosomal dominant pattern. Some people who have PPOX gene variants never have symptoms of porphyria. Diagnosis of VP is based on the symptoms, clinical examination, and other blood and urine tests. The diagnosis may be confirmed by the results of genetic testing.","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:79473","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0008297","ORPHANET_ID__c":"ORPHA:79473","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Porfiria variegata","Spanish_Description_Source__c":"ORPHA:79473","Spanish_Description__c":"La porfiria variegata es una forma de porfiria hepática aguda caracterizada por la aparición de crisis neuroviscerales con o sin la presencia de lesiones cutáneas.","Spanish_Disease_Name__c":"porfiria variegata","Spanish_GARD_Synonym__c":"deficiencia de protoporfirinógeno oxidasa","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":"Variegate porphyria (VP) causes the abnormal production of heme, an important part of the protein in blood that carries oxygen throughout our bodies. It is used in all the body's organs. Symptoms of VP usually begin in adulthood and are different from person to person. Symptoms may include sun sensitivity and the development of skin blisters and sores when exposed to sunlight. Some people with VP have episodes (acute attacks) of severe stomach pain, nausea and vomiting. In some cases, muscle weakness, anxiety, and seizures may occur. Variegate porphyria is caused by genetic changes in the PPOX gene and is inherited in an autosomal dominant pattern. Some people who have PPOX gene variants never have symptoms of porphyria. Diagnosis of VP is based on the symptoms, clinical examination, and other blood and urine tests. The diagnosis may be confirmed by the results of genetic testing.","Curated_Disease_Description_Source__c":"GARD:0007848","GARD_Synonym__c":"dean-barnes syndrome; mixed porphyria; porphyria variegata; porphyria, south african type; ppox deficiency; protocoproporphyria; protoporphyrinogen oxidase deficiency; south african genetic porphyria; south african porphyria; vp; vp - variegate porphyria","Name":"Variegate 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":"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":"Adult","Provided_By__c":"ORPHA:79473"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:79473"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0162532"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0007848","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK121283","Source__c":"Gene Review","Xref__c":"NBK121283"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=58118","Source__c":"C0162532","Xref__c":"MEDGEN:58118"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=58275005","Source__c":"C0162532; MONDO:0008297","Xref__c":"58275005"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C046350","Source__c":"C0162532; MONDO:0008297","Xref__c":"D046350"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C85219","Source__c":"C0162532; MONDO:0008297","Xref__c":"C85219"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0162532","Source__c":"C0162532","Xref__c":"C0162532"},{"URL__c":"https://www.orpha.net/en/disease/detail/79473","Source__c":"C0162532; MONDO:0008297; ORPHA:79473","Xref__c":"ORPHA:79473"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A4346","Source__c":"MONDO:0008297","Xref__c":"DOID:4346"},{"URL__c":"https://www.omim.org/entry/176200","Source__c":"C0162532; MONDO:0008297; ORPHA:79473","Xref__c":"OMIM:176200"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008297","Source__c":"GARD:0007848","Xref__c":"MONDO:0008297"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PPOX","GHR_URL__c":"https://medlineplus.gov/genetics/gene/ppox","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:79473","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A darkening of the skin related to an increase in melanin production and deposition.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000953","HPO_Synonym__c":"Cutaneous hyperpigmentation; Hyperpigmented lesion; Increased skin pigmentation; Patchy darkened skin; Skin hyperpigmentation","HPO_Name__c":"Hyperpigmentation of the skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79473","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Weakness of all four limbs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002273","HPO_Synonym__c":"Quadriparesis","HPO_Name__c":"Tetraparesis","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79473","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of chronic increased pressure in the systemic arterial system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000822","HPO_Synonym__c":"Arterial hypertension; Systemic hypertension","HPO_Name__c":"Hypertension","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79473","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the primary sensation that is mediated by peripheral nerves (pain, temperature, touch, vibration, joint position). The word hypoesthesia (or hypesthesia) refers to a reduction in cutaneous sensation to a specific type of testing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003474","HPO_Synonym__c":"Sensory impairment","HPO_Name__c":"Somatic sensory dysfunction","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79473","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A lack of strength of the proximal muscles of the arms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008997","HPO_Synonym__c":"Proximal muscle weakness in upper limbs","HPO_Name__c":"Proximal upper limb muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79473","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A circumscribed, fluid-containing, epidermal elevation less than 10mm in diameter at the widest point that (i) Contain serous exudates or serum mixed with blood or pus; (ii) Are discrete, grouped, irregularly distributed, or linear as in Rhus dermatitis; (iii) Are short-lived. Vesicles may break spontaneously or evolve into bullae by enlarging or coalescing with other vesicles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200037","HPO_Name__c":"Skin vesicle","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79473","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A state of increased circulating antidiuretic hormone despite hyponatremia and hypo-osmolality with normal or increased plasma volume.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031218","HPO_Synonym__c":"Inappropriate ADH secretion","HPO_Name__c":"Inappropriate antidiuretic hormone secretion","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79473","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Presence of multiple small cysts containing keratin (skin protein) and presenting as tiny pearly-white bumps just under the surface of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001056","HPO_Synonym__c":"Milk spot; Millium cyst","HPO_Name__c":"Milia","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79473","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000739","HPO_Synonym__c":"Anxiety; Anxiousness; Excessive, persistent worry and fear","HPO_Name__c":"Anxiety","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79473","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Perceptions in a conscious and awake state that, in the absence of external stimuli, have qualities of real perception. These perceptions are vivid, substantial, and located in external objective space.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000738","HPO_Synonym__c":"Hallucination; Hallucinations; Sensory hallucination","HPO_Name__c":"Hallucinations","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79473","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of bladder dysfunction caused by neurologic damage. Neurogenic bladder can be flaccid or spastic. Common manifestatios of neurogenic bladder are overflow incontinence, frequency, urgency, urge incontinence, and retention.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000011","HPO_Synonym__c":"Lack of bladder control due to nervous system injury","HPO_Name__c":"Neurogenic bladder","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79473","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A reduction in erythrocytes volume or hemoglobin concentration.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001903","HPO_Synonym__c":"Anaemia; Low number of red blood cells or hemoglobin","HPO_Name__c":"Anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79473","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002027","HPO_Synonym__c":"Abdominal pain; Pain in stomach; Stomach pain","HPO_Name__c":"Abdominal pain","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79473","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormally decreased sodium concentration in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002902","HPO_Synonym__c":"Low blood sodium levels","HPO_Name__c":"Hyponatremia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:79473","HPO_Frequency__c":"Occasional (5-29%)","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:79473","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A lesion of the skin that is located in a specific region rather than being generalized.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011355","HPO_Synonym__c":"Localized skin lesion","HPO_Name__c":"Localized skin lesion","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79473","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000992","HPO_Synonym__c":"Photosensitive skin; Photosensitive skin rashes; Photosensitivity; Sensitivity to sunlight; Skin photosensitivity; Sun sensitivity","HPO_Name__c":"Cutaneous photosensitivity","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79473","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Functional anomaly of the kidney persisting for at least three months.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012622","HPO_Synonym__c":"Chronic kidney disease; CKD","HPO_Name__c":"Chronic kidney disease","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79473","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An abnormality of the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001392","HPO_Synonym__c":"Abnormal liver; Abnormality of the liver; Liver abnormality","HPO_Name__c":"Abnormality of the liver","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79473","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A functional abnormality of the autonomic nervous system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012332","HPO_Synonym__c":"Autonomic dysfunction; Autonomic dysregulation; Dysautonomia","HPO_Name__c":"Abnormal autonomic nervous system physiology","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79473","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hypertrichosis is increased hair growth that is abnormal in quantity or location.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000998","HPO_Name__c":"Hypertrichosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79473","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduction of neurologic reflexes such as the knee-jerk reaction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001265","HPO_Synonym__c":"Decreased reflex response; Decreased reflexes","HPO_Name__c":"Hyporeflexia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79473","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Concentration or activity of an enzyme is above or below the limits of normal in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012379","HPO_Name__c":"Abnormal circulating enzyme concentration or activity","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:79473","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002910","HPO_Synonym__c":"Abnormal liver enzymes; Abnormal liver function; Abnormal liver function tests; Elevated circulating hepatic transaminase activity; Elevated liver enzymes; Elevated serum transaminases; Elevated transaminases; High liver enzymes; Increased liver enzymes; Increased liver function tests; Increased transaminases; Raised liver enzymes; Subclinical abnormal liver function tests","HPO_Name__c":"Elevated circulating hepatic transaminase concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:79473","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:79473","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A scar refers to a lesion in which wound, burn, or sore has not healed completely and fibrous connective tissue has developed.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100699","HPO_Synonym__c":"Scarring","HPO_Name__c":"Scarring","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79473","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced strength of muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001324","HPO_Synonym__c":"Muscle weakness; Muscular weakness","HPO_Name__c":"Muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79473","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Infrequent or difficult evacuation of feces.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002019","HPO_Synonym__c":"Constipation; Costiveness; Dyschezia","HPO_Name__c":"Constipation","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79473","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 chest.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100749","HPO_Synonym__c":"Chest pain; Thoracic pain","HPO_Name__c":"Chest pain","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79473","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A discontinuity of the skin exhibiting incomplete loss of the epidermis, a lesion that is moist, circumscribed, and usually depressed.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200041","HPO_Name__c":"Skin erosion","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79473","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A kind of neoplasm of the liver that originates in hepatocytes and presents macroscopically as a soft and hemorrhagic tan mass in the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001402","HPO_Name__c":"Hepatocellular carcinoma","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79473","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001347","HPO_Synonym__c":"Increased deep tendon reflexes; Increased reflexes","HPO_Name__c":"Hyperreflexia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79473","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Atypical behavior is an abnormality in a person's actions that can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000708","HPO_Synonym__c":"Behavioral abnormality; Behavioral changes; Behavioral disorders; Behavioral disturbances; Behavioral problems; Behavioral symptoms; Behavioral/psychiatric abnormalities; Behavioural symptoms; Behavioural/Psychiatric abnormality; Psychiatric disorders; Psychiatric disturbances","HPO_Name__c":"Atypical behavior","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79473","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Acute obstruction of the intestines preventing passage of the contents of the intestines.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002595","HPO_Synonym__c":"Gastrointestinal atony","HPO_Name__c":"Ileus","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79473","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the nervous system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000707","HPO_Synonym__c":"Abnormality of the nervous system; Neurologic abnormalities; Neurological abnormality","HPO_Name__c":"Abnormality of the nervous system","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79473","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A reduction of skin color related to a decrease in melanin production and deposition.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001010","HPO_Synonym__c":"Hypopigmentation; Hypopigmented skin; Patchy lightened skin","HPO_Name__c":"Hypopigmentation of the skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79473","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Laminar thickening of skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001072","HPO_Synonym__c":"Pachydermia; Thick skin; Thickened skin","HPO_Name__c":"Thickened skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79473","HPO_Frequency__c":"Uncommon (<1-4%)","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:79473","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inability to move the muscles of respiration.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002203","HPO_Name__c":"Respiratory paralysis","Feature_System__c":"Nervous System; Musculoskeletal System; Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79473","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality in the synthesis or catabolism of heme. Heme is composed of ferrous iron and protoporphyrin IX and is an essential molecule as the prosthetic group of hemeproteins such as hemoglobin, myoglobin, mitochondrial and microsomal cytochromes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010472","HPO_Name__c":"Abnormal circulating porphyrin concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:79473","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The concentration of porphobilinogen in the urine, normalized for urine concentration, is above the upper limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012217","HPO_Name__c":"Increased urinary porphobilinogen","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:79473","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:79473","HPO_Frequency__c":"Frequent (30-79%)","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:79473","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008066","HPO_Synonym__c":"Abnormal blistering of the skin; Blister; Blistering, generalized; Blisters; Skin bullae","HPO_Name__c":"Abnormal blistering of the skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79473","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increased concentration of 5-aminolevulinic acid (CHEBI:17549) in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003163","HPO_Synonym__c":"Elevated urinary delta-aminolevulinic acid","HPO_Name__c":"Elevated urinary delta-aminolevulinic acid","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:79473","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A sensation of unease in the stomach together with an urge to vomit.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002018","HPO_Synonym__c":"Nausea","HPO_Name__c":"Nausea","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79473","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001250","HPO_Synonym__c":"Epileptic seizure; Seizures","HPO_Name__c":"Seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79473","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":["dean-barnes syndrome"," mixed porphyria"," porphyria variegata"," porphyria, south african type"," ppox deficiency"," protocoproporphyria"," protoporphyrinogen oxidase deficiency"," south african genetic porphyria"," south african porphyria"," vp"," vp - variegate porphyria"]}