{"orpha":763,"name":"Pycnodysostosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Pyknodysostosis"],"definition":"Pycnodysostosis is a genetic lysosomal disease characterized by osteosclerosis of the skeleton, short stature and brittle bones.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-763/","orphanet_url":"https://www.orpha.net/en/disease/detail/763","names":{"fr":{"name":"Pycnodysostose","definition":"La pycnodysostose est une maladie génétique lysosomale caractérisée par une ostéosclérose du squelette, une petite taille et une fragilité osseuse."},"de":{"name":"Pyknodysostose","definition":"Die Pyknodysostose ist ein erblicher lysosomaler Enzymdefekt mit Osteosklerose des Skeletts, Kleinwuchs und Knochenbrüchigkeit."},"es":{"name":"Picnodisostosis","definition":"La picnodisostosis es una enfermedad genética lisosomal, caracterizada por: osteosclerosis en el esqueleto, estatura baja y fragilidad ósea."},"it":{"name":"Picnodisostosi"},"nl":{"name":"Pycnodysostose","synonyms":["Pyknodysostosis"],"definition":"Een genetische lysosomale ziekte, gekarakteriseerd door osteosclerose van het skelet, kleine gestalte en broze botten."},"pt":{"name":"Picnodisostose"},"pl":{"name":"Pyknodyzostoza","synonyms":["Pyknodysostosis"]},"cs":{"name":"Pyknodysostóza","synonyms":["Pyknodysostosis"]},"uk":{"name":"Пікнодизостоз","synonyms":["Пікнодизостоз"],"definition":"Pycnodysostosis is a genetic lysosomal disease characterized by osteosclerosis of the skeleton, short stature and brittle bones."},"zh":{"name":"致密性成骨不全症","synonyms":["致密性成骨不全症"]},"tr":{"name":"Piknodizostoz","synonyms":["Piknodiyostoz"]}},"xrefs":[{"source":"OMIM","code":"265800","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q78.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C56.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1329974152"},{"source":"MONDO","code":"0009940","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D058631","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0238402","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4611","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10082973","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":68366,"name":"Lysosomal disease","classifications":[150,156]},{"orpha":2781,"name":"Osteopetrosis and related disorders","classifications":[147,156,199,233]},{"orpha":139393,"name":"Syndromic craniosynostosis","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"CTSK","name":"cathepsin K","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"21569238[PMID]","hgnc":"2536","ensembl":"ENSG00000143387","omim":"601105","loci":["1q21.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Adult","Childhood","Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.13,"area":"Worldwide","status":"Not yet validated","source":"21569238[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Europe","status":"Validated","source":"[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-10-11","source":"33151655[PMID]","terms":[{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030353","label":"Decreased serum insulin-like growth factor 1","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005906","label":"Delayed pneumatization of the mastoid process","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008873","label":"Disproportionate short-limb short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011001","label":"Increased bone mineral density","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005446","label":"Obtuse angle of mandible","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009839","label":"Osteolytic defects of the distal phalanges of the hand","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004474","label":"Persistent open anterior fontanelle","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001597","label":"Abnormal nail morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000592","label":"Blue sclerae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012532","label":"Chronic pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000444","label":"Convex nasal ridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000824","label":"Decreased response to growth hormone stimulation test","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000270","label":"Delayed cranial suture closure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005789","label":"Generalized osteosclerosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000327","label":"Hypoplasia of the maxilla","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002659","label":"Increased susceptibility to fractures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008598","label":"Mild conductive hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002870","label":"Obstructive sleep apnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000448","label":"Prominent nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009381","label":"Short finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001773","label":"Short foot","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200055","label":"Small hand","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000889","label":"Abnormality of the clavicle","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010884","label":"Acromelia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000670","label":"Carious teeth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000696","label":"Delayed eruption of permanent teeth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000680","label":"Delayed eruption of primary teeth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000689","label":"Dental malocclusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006297","label":"Enamel hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000668","label":"Hypodontia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002866","label":"Hypoplastic iliac wing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001601","label":"Laryngomalacia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100559","label":"Lower limb asymmetry","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003027","label":"Mesomelia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011342","label":"Mild global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002164","label":"Nail dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025502","label":"Overweight","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006335","label":"Persistence of primary teeth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008905","label":"Rhizomelia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001807","label":"Ridged nail","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003302","label":"Spondylolisthesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003304","label":"Spondylolysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010307","label":"Stridor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002645","label":"Wormian bones","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000539","label":"Abnormality of refraction","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000707","label":"Abnormality of the nervous system","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0007266","label":"Cerebral dysmyelination","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002308","label":"Chiari malformation","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0004440","label":"Coronal craniosynostosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001433","label":"Hepatosplenomegaly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003307","label":"Hyperlordosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002516","label":"Increased intracranial pressure","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000774","label":"Narrow chest","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002493","label":"Upper motor neuron dysfunction","frequency":"Very rare (<4-1%)","criteria":null}]}}