{"Name":"Diaphyseal medullary stenosis-bone malignancy syndrome","DiseaseID__c":"GARD:0010072","id":10072,"encodedName":"diaphyseal-medullary-stenosis-bone-malignancy-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Diaphyseal medullary stenosis-bone malignancy syndrome","Xref_IDs__c":"C122660; C1862177; DOID:0080664; MEDGEN:350613; MONDO:0007205; OMIM:112250; ORPHA:85182","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0007205","Disease_Description__c":"Diaphyseal medullary stenosis with malignant fibrous histiocytoma is a very rare autosomal dominant bone dysplasia/cancer syndrome characterized clinically by bone infarctions, cortical growth abnormalities, pathological fractures, and development of bone sarcoma (malignant fibrous histiocytoma).","GARD_Name__c":"Diaphyseal medullary stenosis-bone malignancy syndrome","GARD_Synonym__c":"bone dysplasia with malignant fibrous histiocytoma; bone dysplasia with medullary fibrosarcoma; bone dysplasia-medullary fibrosarcoma syndrome; diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome; dms-mfh; hardcastle syndrome; hardcastle's syndrome; myopathy, limb-girdle, with bone fragility","Curated_Disease_Description_Source__c":"ORPHA:85182","Curated_Disease_Description__c":"Diaphyseal medullary stenosis-bone malignancy syndrome is a very rare autosomal dominant bone dysplasia/cancer syndrome characterized clinically by bone infarctions, cortical growth abnormalities, pathological fractures, and development of bone sarcoma (malignant fibrous histiocytoma).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:85182","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007205","ORPHANET_ID__c":"ORPHA:85182","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de estenosis medular diafisaria-malignopatía ósea","Spanish_Description_Source__c":"ORPHA:85182","Spanish_Description__c":"La estenosis medular diafisaria con histiocitoma fibroso maligno es un síndrome de displasia ósea/cáncer autosómico dominante muy poco frecuente, que se caracteriza clínicamente por infartos óseos, anomalías corticales del crecimiento, fracturas patológicas, y desarrollo de sarcoma óseo (histiocitoma fibroso maligno).","Spanish_Disease_Name__c":"síndrome de estenosis medular diafisaria-malignopatía ósea","Spanish_GARD_Synonym__c":"displasia ósea-fibrosarcoma medular; estenosis medular diafisaria-histocitoma fibroso maligno","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":"Diaphyseal medullary stenosis-bone malignancy syndrome is a very rare autosomal dominant bone dysplasia/cancer syndrome characterized clinically by bone infarctions, cortical growth abnormalities, pathological fractures, and development of bone sarcoma (malignant fibrous histiocytoma).","Curated_Disease_Description_Source__c":"ORPHA:85182","GARD_Synonym__c":"bone dysplasia with malignant fibrous histiocytoma; bone dysplasia with medullary fibrosarcoma; bone dysplasia-medullary fibrosarcoma syndrome; diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome; dms-mfh; hardcastle syndrome; hardcastle's syndrome; myopathy, limb-girdle, with bone fragility","Name":"Diaphyseal medullary stenosis-bone malignancy syndrome","estimateUsa":""}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cancer - Oncologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Cancer","Tag_Category__c":"Disease Category","category_description":"Cancer is a disease in which some of the body's cells grow uncontrollably and can spread to other parts of the body.","curated_tag_name":"Cancer"},{"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":"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"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1862177"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010072","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1862177","Source__c":"C1862177","Xref__c":"C1862177"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C122660","Source__c":"C1862177; MONDO:0007205","Xref__c":"C122660"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=350613","Source__c":"C1862177","Xref__c":"MEDGEN:350613"},{"URL__c":"https://www.orpha.net/en/disease/detail/85182","Source__c":"C1862177; MONDO:0007205; ORPHA:85182","Xref__c":"ORPHA:85182"},{"URL__c":"https://www.omim.org/entry/112250","Source__c":"C1862177; MONDO:0007205; ORPHA:85182","Xref__c":"OMIM:112250"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080664","Source__c":"MONDO:0007205","Xref__c":"DOID:0080664"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007205","Source__c":"GARD:0010072","Xref__c":"MONDO:0007205"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"MTAP","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:112250","Feature__r":{"HPO_Description__c":"Patchy (irregular) increase in bone density. This can take on many forms depending on severity and distribution as can be seen on x-rays.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005686","HPO_Synonym__c":"Patchy increase of bone mineral density; Uneven increase in bone density","HPO_Name__c":"Patchy osteosclerosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:112250","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003198","HPO_Synonym__c":"Muscle tissue disease; Myopathic changes","HPO_Name__c":"Myopathy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:112250","Feature__r":{"HPO_Description__c":"A fibroblastic sarcoma is a malignant tumor derived from fibrous connective tissue and characterized by immature proliferating fibroblasts or undifferentiated anaplastic spindle cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100244","HPO_Name__c":"Fibrosarcoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:112250","Feature__r":{"HPO_Description__c":"A neoplasm containing histiocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012315","HPO_Name__c":"Histiocytoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:112250","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Subjective impression of increased softness upon palpation of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000977","HPO_Synonym__c":"Soft skin","HPO_Name__c":"Soft skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:112250","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000963","HPO_Synonym__c":"Thin skin","HPO_Name__c":"Thin skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:112250","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005010","HPO_Name__c":"Osteomyelitis leading to amputation due to slow healing fractures","Feature_System__c":"Musculoskeletal System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:112250","Feature__r":{"HPO_Description__c":"An increased tendency to fractures of the long bones (Mainly, the femur, tibia, fibula, humerus, radius, and ulna).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003084","HPO_Synonym__c":"Fractures of the long bones; Increased long bone fracture rate","HPO_Name__c":"Recurrent long bone fractures","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:112250","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100254","HPO_Name__c":"Stenosis of the medullary cavity of the long bones","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:112250","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Development of gray hair at a younger than normal age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002216","HPO_Synonym__c":"Early graying; Premature graying; Premature graying of hair; Premature hair graying","HPO_Name__c":"Premature graying of hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:112250","Feature__r":{"HPO_Description__c":"Presenile cataract is a kind of cataract that occurs in early adulthood, that is, at an age that is younger than usual.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007819","HPO_Synonym__c":"Presenile cataract","HPO_Name__c":"Presenile cataracts","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:112250","Feature__r":{"HPO_Description__c":"A bending or abnormal curvature affecting a long bone of the leg.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002979","HPO_Synonym__c":"Bow legs; Bow-leggedness; Bowed legs; Bowed lower limbs","HPO_Name__c":"Bowing of the legs","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:112250","Feature__r":{"HPO_Description__c":"The presence of skeletal muscular atrophy (which is also known as amyotrophy).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003202","HPO_Synonym__c":"Amyotrophy; Amyotrophy involving the extremities; Muscle atrophy; Muscle atrophy, neurogenic; Muscle degeneration; Muscle hypotrophy; Muscle wasting; Muscular atrophy; Neurogenic muscle atrophy; Neurogenic muscle atrophy, especially in the lower limbs; Neurogenic muscular atrophy","HPO_Name__c":"Skeletal muscle atrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:112250","Feature__r":{"HPO_Description__c":"Reduced strength and weakness of the muscles of the arms and legs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003690","HPO_Synonym__c":"Limb muscle weakness; Limb weakness","HPO_Name__c":"Limb muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:112250","Feature__r":{"HPO_Description__c":"Weakness of the limb-girdle muscles (also known as the pelvic and shoulder girdles), that is, lack of strength of the muscles around the shoulders and the pelvis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003325","HPO_Synonym__c":"Limb girdle weakness; Muscle weakness, limb-girdle; Muscular weakness, limb-girdle","HPO_Name__c":"Limb-girdle muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:112250","Feature__r":{"HPO_Description__c":"A pathologic fracture occurs when a bone breaks in an area that is weakened secondarily to another disease process such as tumor, infection, and certain inherited bone disorders. A pathologic fracture can occur without a degree of trauma required to cause fracture in healthy bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002756","HPO_Synonym__c":"Spontaneous fracture","HPO_Name__c":"Pathologic fracture","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:112250","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000978","HPO_Synonym__c":"Bruisability; Bruise easily; Bruising susceptibility; Easy bruisability; Easy bruising","HPO_Name__c":"Bruising susceptibility","Feature_System__c":"Skin System; Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:112250","Feature__r":{"HPO_Description__c":"A malignant bone tumor that usually develops during adolescence and usually affects the long bones including the tibia, femur, and humerus. The typical symptoms of osteosarcoma comprise bone pain, fracture, limitation of motion, and tenderness or swelling at the site of the tumor.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002669","HPO_Synonym__c":"Bone cell cancer; Osteogenic sarcoma","HPO_Name__c":"Osteosarcoma","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:112250","Feature__r":{"HPO_Description__c":"Longitudinal densities on radiographs located in a metaphysis (the narrow region of a long bone between the epiphysis and the diaphysis).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031367","HPO_Synonym__c":"Striated metaphysis","HPO_Name__c":"Metaphyseal striations","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:112250","Feature__r":{"HPO_Description__c":"A lack of strength of the proximal muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003701","HPO_Synonym__c":"Muscle weakness, proximal; Proximal limb muscle weakness; Proximal limb weakness; Weakness in muscles of upper arms and upper legs","HPO_Name__c":"Proximal muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:112250","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":"OMIM:112250","Feature__r":{"HPO_Description__c":"An elevation in bone density of the cortex of one or more diaphyses. Sclerosis is normally detected on a radiograph as an area of increased opacity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005045","HPO_Name__c":"Diaphyseal cortical sclerosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Genetics","Orthopedics"],"Disease Category":["Cancer","Genetics","Congenital Abnormality"],"Cause":["Genetics"]},"synonyms":["bone dysplasia with malignant fibrous histiocytoma"," bone dysplasia with medullary fibrosarcoma"," bone dysplasia-medullary fibrosarcoma syndrome"," diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome"," dms-mfh"," hardcastle syndrome"," hardcastle's syndrome"," myopathy, limb-girdle, with bone fragility"]}