{"Name":"Autosomal recessive hypophosphatemic bone disease","DiseaseID__c":"GARD:0016977","id":16977,"encodedName":"autosomal-recessive-hypophosphatemic-bone-disease","IsDeleted":false,"Disease_Name_Full__c":"Autosomal recessive hypophosphatemic bone disease","Xref_IDs__c":"237891005; C131450; C1853271; C562793; DOID:0050947; MEDGEN:501133; MONDO:0009431; OMIM:241530; ORPHA:157215","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":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0009431","Disease_Description__c":"A rare hereditary disorder of renal phosphate wasting characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia. Other features include slow growth, short stature, skeletal deformities, muscle weakness and bone pain that are associated with normal or elevated plasma levels of calcitriol and hyperphosphaturia.","GARD_Name__c":"Autosomal recessive hypophosphatemic bone disease","GARD_Synonym__c":"hereditary hypophosphatemic rickets with hypercalciuria; hhrh; hhrh - hereditary hypophosphatemic rickets with hypercalciuria; hypercalciuric hypophosphatemic rickets; hypercalciuric rickets; hypophosphatemic hypercalciuric rickets; hypophosphatemic rickets with hypercalciuria","Curated_Disease_Description_Source__c":"MONDO:0009431","Curated_Disease_Description__c":"A rare hereditary disorder of renal phosphate wasting characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia. Other features include slow growth, short stature, skeletal deformities, muscle weakness and bone pain that are associated with normal or elevated plasma levels of calcitriol and hyperphosphaturia.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Infant and as a Child","SourceID__c":"ORPHA:157215","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009431","ORPHANET_ID__c":"ORPHA:157215","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Raquitismo hipofosfatémico hereditario con hipercalciuria","Spanish_Description_Source__c":"ORPHA:157215","Spanish_Description__c":"Es un trastorno hereditario poco frecuente de pérdida renal de fosfato caracterizada por hipofosfatemia e hipercalciuria asociadas a raquitismo y/o osteomalacia. Otras características descritas son: crecimiento lento, talla baja, deformidades esqueléticas, debilidad muscular y dolor óseo que se asocian con niveles plasmáticos normales o elevados de calcitriol e hiperfosfaturia.","Spanish_Disease_Name__c":"raquitismo hipofosfatémico hereditario con hipercalciuria","Spanish_GARD_Synonym__c":"hhrh","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":"A rare hereditary disorder of renal phosphate wasting characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia. Other features include slow growth, short stature, skeletal deformities, muscle weakness and bone pain that are associated with normal or elevated plasma levels of calcitriol and hyperphosphaturia.","Curated_Disease_Description_Source__c":"MONDO:0009431","GARD_Synonym__c":"hereditary hypophosphatemic rickets with hypercalciuria; hhrh; hhrh - hereditary hypophosphatemic rickets with hypercalciuria; hypercalciuric hypophosphatemic rickets; hypercalciuric rickets; hypophosphatemic hypercalciuric rickets; hypophosphatemic rickets with hypercalciuria","Name":"Autosomal recessive hypophosphatemic bone disease","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"Endocrine","Tag_Category__c":"Disease Category;Specialist","category_description":"Endocrine diseases affect hormone production or how the body responds to a specific hormone(s).","curated_tag_name":"Endocrine 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:157215"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:157215"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/241530","Source__c":"C1853271; MONDO:0009431; ORPHA:157215","Xref__c":"OMIM:241530"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050947","Source__c":"MONDO:0009431","Xref__c":"DOID:0050947"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1853271","Source__c":"C1853271","Xref__c":"C1853271"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C562793","Source__c":"MONDO:0009431","Xref__c":"C562793"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C131450","Source__c":"C1853271; MONDO:0009431","Xref__c":"C131450"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=501133","Source__c":"C1853271","Xref__c":"MEDGEN:501133"},{"URL__c":"https://www.orpha.net/en/disease/detail/157215","Source__c":"C1853271; MONDO:0009431; ORPHA:157215","Xref__c":"ORPHA:157215"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=237891005","Source__c":"C1853271; MONDO:0009431","Xref__c":"237891005"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=726081005","Source__c":"C1853271","Xref__c":"726081005"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009431","Source__c":"GARD:0016977","Xref__c":"MONDO:0009431"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SLC34A3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive","Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:157215","HPO_Frequency__c":"Occasional (5-29%)","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":"ORPHA:157215","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Osteomalacia is a general term for bone weakness owing to a defect in mineralization of the protein framework known as osteoid. This defective mineralization is mainly caused by lack in vitamin D. Osteomalacia in children is known as rickets.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002749","HPO_Synonym__c":"Softening of the bones","HPO_Name__c":"Osteomalacia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:157215","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An elevated level of osteocalcin in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031428","HPO_Name__c":"Increased circulating osteocalcin level","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:157215","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased excretion of phosphates in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003109","HPO_Synonym__c":"High urine phosphate levels; Phosphaturia","HPO_Name__c":"Hyperphosphaturia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:157215","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the skeletal system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000924","HPO_Synonym__c":"Abnormality of the skeletal system; Skeletal abnormalities; Skeletal anomalies","HPO_Name__c":"Abnormality of the skeletal system","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:157215","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 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"}},{"Provided_By__c":"ORPHA:157215","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A height below that which is expected according to age and sex norms. Although there is no universally accepted definition of short stature, many refer to \\\"short stature\\\" as height more than 2 standard deviations below the mean for age and sex (or below the 3rd percentile for age and sex dependent norms).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004322","HPO_Synonym__c":"Decreased body height; Height less than 3rd percentile; Short stature; Small stature; Stature below 3rd percentile","HPO_Name__c":"Short stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:157215","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormally increased level of bone isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010639","HPO_Synonym__c":"Elevated alkaline phosphatase of bone origin; Elevated ALP of bone origin; Increased serum bone-specific alkaline phosphatase","HPO_Name__c":"Elevated alkaline phosphatase of bone origin","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:157215","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of calculi (stones) in the kidneys.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000787","HPO_Synonym__c":"Kidney stones; Renal calculi; Renal stones","HPO_Name__c":"Nephrolithiasis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:157215","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The deposition of calcium salts in the parenchyma of the renal medulla (innermost part of the kidney).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012408","HPO_Name__c":"Medullary nephrocalcinosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:157215","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A row of beadlike prominences at the junction of a rib and its cartilage (i.e., enlarged costochondral joints), resembling a rosary. Note that rachitic rosary would have one bead per rib (a swelling at the costochondral junction), while beaded ribs in the context of multiple rib fractures have multiple beads (fractures) along the same rib.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000897","HPO_Name__c":"Rachitic rosary","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:157215","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Weakness of the hip girdle and upper thigh muscles, for instance in myopathies, leads to an instability of the pelvis on standing and walking. If the muscles extending the hip joint are affected, the posture in that joint becomes flexed and lumbar lordosis increases. The patients usually have difficulties standing up from a sitting position. Due to weakness in the gluteus medius muscle, the hip on the side of the swinging leg drops with each step (referred to as Trendelenburg sign). The gait appears waddling. The patients frequently attempt to counteract the dropping of the hip on the swinging side by bending the trunk towards the side which is in the stance phase (in the German language literature this is referred to as Duchenne sign). Similar gait patterns can be caused by orthopedic conditions when the origin and the insertion site of the gluteus medius muscle are closer to each other than normal, for instance due to a posttraumatic elevation of the trochanter or pseudarthrosis of the femoral neck.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002515","HPO_Synonym__c":"Waddling gait; Waddling walk","HPO_Name__c":"Waddling gait","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:157215","HPO_Frequency__c":"Occasional (5-29%)","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":"ORPHA:157215","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormally decreased phosphate concentration in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002148","HPO_Synonym__c":"Hypophosphataemia; Low blood phosphate level","HPO_Name__c":"Hypophosphatemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:157215","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002150","HPO_Synonym__c":"Elevated urine calcium levels; Hypercalcinuria","HPO_Name__c":"Hypercalciuria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:157215","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased concentration of calcitriol in the blood. Calcitriol is also known as 1,25-dihydroxycholecalciferol or 1,25-dihydroxyvitamin D3.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031415","HPO_Synonym__c":"High serum 1,25-dihydroxycholecalciferol; High serum 1,25-dihydroxyvitamin D3; Increased serum 1,25-dihydroxyvitamin D3; Increased serum calcitriol","HPO_Name__c":"High serum calcitriol","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:157215","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A deficiency or slowing down of growth pre- and postnatally.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001510","HPO_Synonym__c":"Delayed growth; Growth deficiency; Growth delay; Growth failure; Growth retardation; Poor growth; Retarded growth","HPO_Name__c":"Growth delay","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:157215","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormally decreased concentration of parathyroid hormone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031817","HPO_Synonym__c":"Decreased circulating PTH level; Decreased serum parathyroid hormone; Decreased serum parathyroid hormone level; Decreased serum PTH","HPO_Name__c":"Decreased circulating parathyroid hormone level","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:157215","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The concentration of beta-CTX (= beta-C-terminal telopeptide, = beta-C-terminal telopeptide of type I collagen) in the blood circulation is above the upper limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031425","HPO_Synonym__c":"Increased circulating beta-C-terminal telopeptide level; Increased circulating beta-CrossLaps level; Increased circulating beta-CTx level","HPO_Name__c":"Elevated circulating beta-CTX concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:157215","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004349","HPO_Synonym__c":"Decreased bone mineral density; Decreased bone mineral density Z score; Low solidness and mass of the bones","HPO_Name__c":"Reduced bone mineral density","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:157215","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004912","HPO_Name__c":"Hypophosphatemic rickets","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Lab"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Nephrology","Endocrine","Congenital Abnormality"],"Specialist":["Genetics","Nephrology","Endocrine","Orthopedics","Pediatrics"],"Account":["Nephrology"]},"synonyms":["hereditary hypophosphatemic rickets with hypercalciuria"," hhrh"," hhrh - hereditary hypophosphatemic rickets with hypercalciuria"," hypercalciuric hypophosphatemic rickets"," hypercalciuric rickets"," hypophosphatemic hypercalciuric rickets"," hypophosphatemic rickets with hypercalciuria"]}