{"Name":"Cutaneous porphyria","DiseaseID__c":"GARD:0004446","id":4446,"encodedName":"cutaneous-porphyria","IsDeleted":false,"Disease_Name_Full__c":"Cutaneous porphyria","Xref_IDs__c":"67312003; C5886774; C84697; D017092; DOID:13271; MEDGEN:1861084; MONDO:0009902; OMIM:263700; ORPHA:79277","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":5,"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":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0009902","Disease_Description__c":"A rare erythropoietic porphyria characterized by a non-photoalgesic, polymorphic, mutilating and very severe photodermatosis.","GARD_Name__c":"Cutaneous porphyria","GARD_Synonym__c":"cep; cep - congenital erythropoietic porphyria; congenital erythropoietic porphyria; congenital photosensitive porphyria; congenital porphyria; erythropoietic porphyria; gunther disease; gunther's disease; günther disease; hematoporphyria congenita; porphyria erythropoietica; porphyria, erythropoietic; uroporphyrinogen iii synthase deficiency; uroporphyrinogen iii synthase, deficiency of; uros deficiency; uros-related erythropoietic porphyria","Curated_Disease_Description_Source__c":"GARD:0004446","Curated_Disease_Description__c":"Congenital erythropoietic porphyria (CEP) is the rarest type of porphyria and is commonly seen in infancy. It is characterized by severe skin photosensitivity that may lead to scarring, blistering, and increased hair growth at the face and back of the hands. Photosensitivity and infection may cause the loss of fingers and facial features. Symptoms of CEP range from mild to severe and may include excessive hair growth throughout the body (hypertrichosis), reddish discoloration of the teeth, anemia, and reddish-colored urine. In CEP, there is a defect in the synthesis of heme within the red blood cells of bone marrow. This defect leads to an increase in the buildup and, therefore, waste of porphyrin and its precursors, which leads to the signs and symptoms. Inheritance is autosomal recessive. It is caused by genetic changes in the UROS gene.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:79277","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009902","ORPHANET_ID__c":"ORPHA:79277","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Porfiria eritropoyética congénita","Spanish_Description_Source__c":"ORPHA:79277","Spanish_Description__c":"La porfiria eritropoyética congénita, o enfermedad de Günther, es una forma de porfiria eritropoyética caracterizada por una fotodermatosis muy grave y mutilante.","Spanish_Disease_Name__c":"porfiria eritropoyética congénita","Spanish_GARD_Synonym__c":"cep; enfermedad de günther","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":"Congenital erythropoietic porphyria (CEP) is the rarest type of porphyria and is commonly seen in infancy. It is characterized by severe skin photosensitivity that may lead to scarring, blistering, and increased hair growth at the face and back of the hands. Photosensitivity and infection may cause the loss of fingers and facial features. Symptoms of CEP range from mild to severe and may include excessive hair growth throughout the body (hypertrichosis), reddish discoloration of the teeth, anemia, and reddish-colored urine. In CEP, there is a defect in the synthesis of heme within the red blood cells of bone marrow. This defect leads to an increase in the buildup and, therefore, waste of porphyrin and its precursors, which leads to the signs and symptoms. Inheritance is autosomal recessive. It is caused by genetic changes in the UROS gene.","Curated_Disease_Description_Source__c":"GARD:0004446","GARD_Synonym__c":"cep; cep - congenital erythropoietic porphyria; congenital erythropoietic porphyria; congenital photosensitive porphyria; congenital porphyria; erythropoietic porphyria; gunther disease; gunther's disease; günther disease; hematoporphyria congenita; porphyria erythropoietica; porphyria, erythropoietic; uroporphyrinogen iii synthase deficiency; uroporphyrinogen iii synthase, deficiency of; uros deficiency; uros-related erythropoietic porphyria","Name":"Cutaneous 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":"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":"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":"Hematology","Tag_Category__c":"Disease Category;Specialist","category_description":"Blood diseases affect the blood or blood-forming organs, including red blood cells, white blood cells, platelets, plasma, and bone marrow.","curated_tag_name":"Blood 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":"All ages","Provided_By__c":"ORPHA:79277"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0004446","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK154652","Source__c":"Gene Review","Xref__c":"NBK154652"},{"URL__c":"https://www.omim.org/entry/263700","Source__c":"C5886774; MONDO:0009902; ORPHA:79277","Xref__c":"OMIM:263700"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=67312003","Source__c":"MONDO:0009902","Xref__c":"67312003"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C017092","Source__c":"C5886774; MONDO:0009902","Xref__c":"D017092"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A13271","Source__c":"MONDO:0009902","Xref__c":"DOID:13271"},{"URL__c":"https://www.orpha.net/en/disease/detail/79277","Source__c":"C5886774; MONDO:0009902; ORPHA:79277","Xref__c":"ORPHA:79277"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C84697","Source__c":"C5886774; MONDO:0009902","Xref__c":"C84697"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5886774","Source__c":"C5886774","Xref__c":"C5886774"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1861084","Source__c":"C5886774","Xref__c":"MEDGEN:1861084"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=22935002","Source__c":"C5886774","Xref__c":"22935002"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009902","Source__c":"GARD:0004446","Xref__c":"MONDO:0009902"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=190913009","Source__c":"C5886774","Xref__c":"190913009"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"UROS","GHR_URL__c":"https://medlineplus.gov/genetics/gene/uros","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:79277","HPO_Frequency__c":"Frequent (30-79%)","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:79277","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Disruption of the epithelial layer of the cornea with involvement of the underlying stroma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012804","HPO_Synonym__c":"Corneal ulcer; Corneal ulcerations","HPO_Name__c":"Corneal ulceration","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79277","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000938","HPO_Synonym__c":"Generalized osteopenia","HPO_Name__c":"Osteopenia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79277","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Inflammation of the eyelid due to overactivity of the sebaceous gland.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0500046","HPO_Name__c":"Seborrhoeic blepharitis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79277","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012132","HPO_Name__c":"Erythroid hyperplasia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79277","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increased amount of unconjugated (indirect) bilurubin in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008282","HPO_Name__c":"Unconjugated hyperbilirubinemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:79277","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Inflammation of the sclera.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100532","HPO_Name__c":"Scleritis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79277","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:79277","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormally increased variability in the size of erythrocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011273","HPO_Synonym__c":"Unequal size of red blood cells","HPO_Name__c":"Anisocytosis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79277","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An outward turning (eversion) or rotation of the eyelid margin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000656","HPO_Synonym__c":"Eyelid turned out","HPO_Name__c":"Ectropion","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79277","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of hydrops fetalis in which there is no identifiable circulating antibody to red blood cell antigens .","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001790","HPO_Synonym__c":"Hydrops fetalis, non-immune; Hydrops fetalis, nonimmune; Non-immune fetal hydrops; Nonimmune hydrops","HPO_Name__c":"Nonimmune hydrops fetalis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79277","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal decreased number of leukocytes in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001882","HPO_Synonym__c":"Decreased blood leukocyte number; Leukopenia; Low white blood cell count","HPO_Name__c":"Decreased total leukocyte count","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79277","HPO_Frequency__c":"Frequent (30-79%)","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:79277","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Inflammation of the cornea and conjunctiva.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001096","HPO_Name__c":"Keratoconjunctivitis","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79277","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Skin that splits easily with minimal injury.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001030","HPO_Synonym__c":"Fragile skin; Skin fragility","HPO_Name__c":"Fragile skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79277","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The presence of squamous cell carcinoma of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002860","HPO_Name__c":"Squamous cell carcinoma","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79277","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A tumor (abnormal growth of tissue) of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008069","HPO_Synonym__c":"Dermatological tumors; Skin tumors; Tumor of the skin","HPO_Name__c":"Neoplasm of the skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79277","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A reduction in the number of circulating thrombocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001873","HPO_Synonym__c":"Low platelet count","HPO_Name__c":"Thrombocytopenia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79277","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reddish, brown opalescent discoloration of teeth in normal light.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030756","HPO_Synonym__c":"Red teeth","HPO_Name__c":"Erythrodontia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79277","HPO_Frequency__c":"Frequent (30-79%)","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:79277","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:79277","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001892","HPO_Synonym__c":"Bleeding diathesis; Bleeding tendency; Hemorrhagic diathesis","HPO_Name__c":"Abnormal bleeding","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79277","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Blindness is the condition of lacking visual perception defined as a profound reduction in visual perception. On the 6m visual acuity scale, blindness is defined as less than 3/60. On the 20ft visual acuity scale, blindness is defined as less than 20/400. On the decimal visual acuity scale, blindness is defined as less than 0.05. Blindness is typically characterized by a visual field of no greater than 10 degrees in radius around central fixation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000618","HPO_Synonym__c":"Blindness; Total vision loss","HPO_Name__c":"Blindness","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79277","HPO_Frequency__c":"Frequent (30-79%)","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:79277","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000969","HPO_Synonym__c":"Dropsy; Fluid retention; Hydrops; Oedema; Water retention","HPO_Name__c":"Edema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79277","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Concentration of protoporphyrins in erythrocytes above the upper limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012187","HPO_Name__c":"Increased erythrocyte protoporphyrin concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:79277","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:79277","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Excessive, increased hair growth located in the facial region.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002219","HPO_Synonym__c":"Increased facial hair growth","HPO_Name__c":"Facial hypertrichosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79277","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of anemia caused by premature destruction of red blood cells (hemolysis).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001878","HPO_Synonym__c":"Haemolytic anemia; Increased hemolysis","HPO_Name__c":"Hemolytic anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79277","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal red-brown color of the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040320","HPO_Synonym__c":"red brown urine","HPO_Name__c":"Red-brown urine","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79277","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The concentration of vitamin D in the blood circulation is below the lower limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100512","HPO_Synonym__c":"Deficient in vitamin D; Low levels of vitamin D; Vitamin D deficiency","HPO_Name__c":"Decreased circulating vitamin D concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:79277","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal increased size of the spleen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001744","HPO_Synonym__c":"Increased spleen size; Large spleen","HPO_Name__c":"Splenomegaly","Feature_System__c":"Cardiovascular System; Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79277","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000939","HPO_Name__c":"Osteoporosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79277","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased susceptibility to bacterial infections of the skin, as manifested by recurrent episodes of infectious dermatitis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005406","HPO_Synonym__c":"Recurrent bacterial skin infections; Recurrent cutaneous pyogenic infections; Recurrent episodes of impetigo; Recurrent episodes of infectious dermatitis; Recurrent pyogenic skin infections","HPO_Name__c":"Recurrent bacterial skin infections","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79277","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Osteolysis refers to the destruction of bone through bone resorption with removal or loss of calcium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002797","HPO_Synonym__c":"Breakdown of bone; Increased bone resorption; Osteolytic defects of bones","HPO_Name__c":"Osteolysis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79277","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal purple color of the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040322","HPO_Name__c":"Purple urine","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79277","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormality of the amniotic fluid, which is the fluid contained in the amniotic sac surrounding the developing fetus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001560","HPO_Synonym__c":"Abnormal amniotic fluid","HPO_Name__c":"Abnormality of the amniotic fluid","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79277","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormally high concentration of coproporphyrin 1 in feces.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0033009","HPO_Synonym__c":"Elevated fecal coproporphyrin 1; Elevated stool coproporphyrin 1; High fecal coproporphyrin 1; High stool coproporphyrin 1","HPO_Name__c":"Increased fecal coproporphyrin 1","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:79277","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000989","HPO_Synonym__c":"Itching; Itchy skin; Skin itching","HPO_Name__c":"Pruritus","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79277","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of abnormally shaped erythrocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004447","HPO_Name__c":"Poikilocytosis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79277","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased amount of urobilinogen present in the stool.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0500115","HPO_Name__c":"Increased stool urobilinogen concentration","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:79277","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:79277","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003401","HPO_Synonym__c":"Paresthesias; Pins and needles feeling; Tingling","HPO_Name__c":"Paresthesia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79277","HPO_Frequency__c":"Very frequent (80-99%)","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:79277","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A severe degree of photosensitivity of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007537","HPO_Synonym__c":"Severe sun sensitivity","HPO_Name__c":"Severe photosensitivity","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79277","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004552","HPO_Synonym__c":"Cicatricial alopecia","HPO_Name__c":"Scarring alopecia of scalp","Feature_System__c":"Skin System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79277","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of an abnormally increased amount of connective tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009025","HPO_Name__c":"Increased connective tissue","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79277","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"This term refers to the loss of eyelashes that were previously present.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011457","HPO_Synonym__c":"Ciliary Madarosis; Eyelashes fell out; Loss of eyelashes; Milphosis; Missing eyelashes","HPO_Name__c":"Loss of eyelashes","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79277","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001923","HPO_Synonym__c":"Increased immature red blood cells; Increased number of immature red blood cells; Increased reticulocyte count; Increased reticulocytes","HPO_Name__c":"Reticulocytosis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:79277","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormally low concentration of haptoglobin in the blood circulation. Decreased haptoglobin in conjunction with increased reticulocyte count and anemia may indicate hemolysis. Decreased haptoglobin levels can also occur in the absence of hemolysis, due to cirrhosis of the liver, disseminated ovarian carcinomatosis, pulmonary sarcoidosis, and elevated estrogen state.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0020181","HPO_Name__c":"Reduced haptoglobin level","HPO_Feature_Type__c":"Lab"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Nephrology","Dermatology","Hematology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Nephrology","Dermatology","Hematology","Pediatrics"],"Account":["Nephrology","Dermatology"]},"synonyms":["cep"," cep - congenital erythropoietic porphyria"," congenital erythropoietic porphyria"," congenital photosensitive porphyria"," congenital porphyria"," erythropoietic porphyria"," gunther disease"," gunther's disease"," günther disease"," hematoporphyria congenita"," porphyria erythropoietica"," porphyria, erythropoietic"," uroporphyrinogen iii synthase deficiency"," uroporphyrinogen iii synthase, deficiency of"," uros deficiency"," uros-related erythropoietic porphyria"],"spanishId":13252,"spanishName":"porfiria-eritropoyetica-congenita"}