{"Name":"Progressive osseous heteroplasia","DiseaseID__c":"GARD:0000109","id":109,"encodedName":"progressive-osseous-heteroplasia","IsDeleted":false,"Disease_Name_Full__c":"Progressive osseous heteroplasia","Xref_IDs__c":"719271000; C0334041; C132062; C562735; DOID:0111535; MEDGEN:137714; MONDO:0008153; OMIM:166350; ORPHA:2762","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0008153","Disease_Description__c":"Progressive osseous heteroplasia (POH) is a rare genetic bone disorder characterized clinically by progressive extraskeletal bone formation presenting in early life with cutaneous ossification, that progressively involves subcutaneous and then subsequently deep connective tissues, including muscle and fascia. POH overlaps with a number of related genetic disorders including Albright hereditary osteodystrophy, pseudohypoparathyroidism (see these terms), and primary osteoma cutis, that share the common features of superficial heterotopic ossification in association with inactivating mutations of <i>GNAS</i> gene (20q13.2-q13.3), coding for guanine nucleotide-binding proteins. POH can, however, be distinguished clinically by the deep and progressive nature of the heterotopic bone formation.","GARD_Name__c":"Progressive osseous heteroplasia","GARD_Synonym__c":"cutaneous ossification; cutaneous osteosis; ectopic ossification, familial; familial ectopic ossification; miliary osteoma; osseus heteroplasia, progressive; osteodermia; osteoma cutis; osteomatosis; osteosis cutis; poh; progressive osseus heteroplasia (poh)","Curated_Disease_Description_Source__c":"GARD:0000109","Curated_Disease_Description__c":"Progressive osseous heteroplasia is a disorder in which bone forms within skin and muscle tissue. Bone that forms outside the skeleton is called heterotopic or ectopic bone. In progressive osseous heteroplasia, ectopic bone formation begins in the deep layers of the skin (dermis and subcutaneous fat) and gradually moves into other tissues such as skeletal muscle and tendons. The bony lesions within the skin may be painful and may develop into open sores (ulcers). Over time, joints can become involved, resulting in impaired mobility. Signs and symptoms of progressive osseous heteroplasia usually become noticeable during infancy. In some affected individuals, however, the disorder may not become evident until later in childhood or in early adulthood.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Infant and as a Child","SourceID__c":"ORPHA:2762","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008153","ORPHANET_ID__c":"ORPHA:2762","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Heteroplasia ósea progresiva","Spanish_Description_Source__c":"ORPHA:2762","Spanish_Description__c":"Es un trastorno genético de los huesos muy poco frecuente caracterizado clínicamente por la formación progresiva de hueso extraesquelético. Suele presentarse a edades tempranas en forma de osificación cutánea, afectando progresivamente al tejido subcutáneo y al tejido conectivo profundo, comprometiendo músculos y fascias. La HOP se manifiesta en un número de trastornos genéticos relacionados entre los que se incluye la osteodistrofia hereditaria de Albright, el pseudohipoparatiroidismo y el osteoma cutis primario, que comparten las características comunes de la osificación heterotópica superficial en asociación con mutaciones inactivantes del gen <i>GNAS</i> (20q13.2-q13.3), que codifica las proteínas de unión del nucleótido de guanina. La HOP puede, sin embargo, distinguirse clínicamente por la profunda y progresiva naturaleza de la formación de hueso heterotópico.","Spanish_Disease_Name__c":"heteroplasia ósea progresiva","Spanish_GARD_Synonym__c":"hop; osificación ectópica familiar","Category_Linearization__c":"ORPHA:93419","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":"Progressive osseous heteroplasia is a disorder in which bone forms within skin and muscle tissue. Bone that forms outside the skeleton is called heterotopic or ectopic bone. In progressive osseous heteroplasia, ectopic bone formation begins in the deep layers of the skin (dermis and subcutaneous fat) and gradually moves into other tissues such as skeletal muscle and tendons. The bony lesions within the skin may be painful and may develop into open sores (ulcers). Over time, joints can become involved, resulting in impaired mobility. Signs and symptoms of progressive osseous heteroplasia usually become noticeable during infancy. In some affected individuals, however, the disorder may not become evident until later in childhood or in early adulthood.","Curated_Disease_Description_Source__c":"GARD:0000109","GARD_Synonym__c":"cutaneous ossification; cutaneous osteosis; ectopic ossification, familial; familial ectopic ossification; miliary osteoma; osseus heteroplasia, progressive; osteodermia; osteoma cutis; osteomatosis; osteosis cutis; poh; progressive osseus heteroplasia (poh)","Name":"Progressive osseous heteroplasia","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Progressive Osseous Heteroplasia Association","Website__c":"https://pohassociation.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":"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":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Orthopedics","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:2762"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:2762"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0334041"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0000109","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK459117","Source__c":"Gene Review","Xref__c":"NBK459117"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0334041","Source__c":"C0334041","Xref__c":"C0334041"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=719271000","Source__c":"C0334041; MONDO:0008153","Xref__c":"719271000"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C562735","Source__c":"MONDO:0008153","Xref__c":"C562735"},{"URL__c":"https://www.orpha.net/en/disease/detail/2762","Source__c":"C0334041; MONDO:0008153; ORPHA:2762","Xref__c":"ORPHA:2762"},{"URL__c":"https://www.omim.org/entry/166350","Source__c":"C0334041; MONDO:0008153; ORPHA:2762","Xref__c":"OMIM:166350"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=137714","Source__c":"C0334041","Xref__c":"MEDGEN:137714"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111535","Source__c":"MONDO:0008153","Xref__c":"DOID:0111535"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008153","Source__c":"GARD:0000109","Xref__c":"MONDO:0008153"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=404074003","Source__c":"C0334041","Xref__c":"404074003"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0025027","Source__c":"C0334041","Xref__c":"HP:0025027"},{"URL__c":"https://medlineplus.gov/genetics/condition/progressive-osseous-heteroplasia","Source__c":"GARD:0000109","Xref__c":"https://medlineplus.gov/genetics/condition/progressive-osseous-heteroplasia"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=71304002","Source__c":"C0334041","Xref__c":"71304002"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C132062","Source__c":"C0334041","Xref__c":"C132062"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"GNAS","GHR_URL__c":"https://medlineplus.gov/genetics/gene/gnas","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2762","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduction in the freedom of movement of one or more joints.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001376","HPO_Synonym__c":"Decreased joint mobility; Decreased mobility of joints; Limitation of joint mobility; Limited joint mobility; Limited joint motion","HPO_Name__c":"Limitation of joint mobility","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2762","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012733","HPO_Synonym__c":"Flat, discolored area of skin","HPO_Name__c":"Macule","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2762","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A connective tissue neoplasm formed by proliferation of mesodermal cells. Bone and soft tissue sarcomas are the main types of sarcoma. Sarcoma is usually highly malignant.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100242","HPO_Synonym__c":"Cancer of connective tissue; Malignant connective tissue tumor","HPO_Name__c":"Sarcoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2762","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the parathyroid gland.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000828","HPO_Name__c":"Abnormality of the parathyroid gland","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2762","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Slightly elevated lesions on or in the skin with a diameter of over 5 mm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001482","HPO_Synonym__c":"Firm lump under the skin; Growth of abnormal tissue under the skin","HPO_Name__c":"Subcutaneous nodule","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2762","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001156","HPO_Synonym__c":"Brachydactyly syndrome; Short fingers or toes","HPO_Name__c":"Brachydactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2762","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200034","HPO_Synonym__c":"Papules","HPO_Name__c":"Papule","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2762","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Degeneration (wear and tear) of articular cartilage, i.e., of the joint surface. Joint degeneration may be accompanied by osteophytes (bone overgrowth), narrowing of the joint space, regions of sclerosis at the joint surface, or joint deformity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002758","HPO_Synonym__c":"Degenerative joint disease","HPO_Name__c":"Osteoarthritis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2762","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A hyperpigmented circumscribed area of change in normal skin color without elevation or depression of any size.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001034","HPO_Synonym__c":"Hyperpigmented macules; Hyperpigmented spots","HPO_Name__c":"Hypermelanotic macule","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2762","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Formation of abnormal bony tissue within muscle tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011987","HPO_Synonym__c":"Calcification of muscle tissue","HPO_Name__c":"Ectopic ossification in muscle tissue","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2762","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Deposition of calcium salts in a tissue or location in which calcification does not normally occur.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010766","HPO_Name__c":"Ectopic calcification","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2762","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) localized to bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002653","HPO_Synonym__c":"Bone pain","HPO_Name__c":"Bone pain","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Dermatology","Orthopedics","Pediatrics"],"Account":["Dermatology"]},"synonyms":["cutaneous ossification"," cutaneous osteosis"," ectopic ossification, familial"," familial ectopic ossification"," miliary osteoma"," osseus heteroplasia, progressive"," osteodermia"," osteoma cutis"," osteomatosis"," osteosis cutis"," poh"," progressive osseus heteroplasia (poh)"]}