loading...| Preferred Name | pycnodysostosis | |
| Synonyms |
PKND Pycd pycnodysostosis Pyknodysostosis |
|
| Definitions |
Pycnodysostosis is a genetic lysosomal disease characterized by short stature, increased density of the bones (osteosclerosis/osteopetrosis), and brittle bones. Other features may include underdevelopment of the tips of the fingers with absent or small nails, an abnormal collarbone (clavicle), distinctive facial features including a large head with a small face and chin, underdeveloped facial bones, a high forehead, and dental abnormalities.Pycnodysostosis is an autosomal recessive condition caused by mutations in the gene that codes the enzyme cathepsin K (CTSK) on chromosome 1q21. The diagnosis of pycnodysostosis is based on physical features and X-ray findings. Molecular genetic testing is available. Treatment should address the symptoms found in each patient and may include orthopedic monitoring, treatment of fractures, appropriate dental care, and craniofacial surgery. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0009940 |
|
| curated_content_resource |
https://search.clinicalgenome.org/kb/conditions/MONDO:0009940 |
|
| database_cross_reference |
SCTID:89647000 MESH:D058631 MEDGEN:116061 UMLS:C0238402 icd11.foundation:1329974152 DOID:0080038 NCIT:C131187 Orphanet:763 OMIM:265800 NANDO:2201023 GARD:4611 NORD:1637 |
|
| definition |
Pycnodysostosis is a genetic lysosomal disease characterized by short stature, increased density of the bones (osteosclerosis/osteopetrosis), and brittle bones. Other features may include underdevelopment of the tips of the fingers with absent or small nails, an abnormal collarbone (clavicle), distinctive facial features including a large head with a small face and chin, underdeveloped facial bones, a high forehead, and dental abnormalities.Pycnodysostosis is an autosomal recessive condition caused by mutations in the gene that codes the enzyme cathepsin K (CTSK) on chromosome 1q21. The diagnosis of pycnodysostosis is based on physical features and X-ray findings. Molecular genetic testing is available. Treatment should address the symptoms found in each patient and may include orthopedic monitoring, treatment of fractures, appropriate dental care, and craniofacial surgery. |
|
| exactMatch |
http://purl.obolibrary.org/obo/NCIT_C131187 http://identifiers.org/mesh/D058631 http://purl.obolibrary.org/obo/Orphanet_763 http://purl.obolibrary.org/obo/DOID_0080038 http://identifiers.org/snomedct/89647000 http://identifiers.org/medgen/116061 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1329974152 |
|
| has_exact_synonym |
pycnodysostosis Pyknodysostosis |
|
| has_related_synonym |
PKND Pycd |
|
| IAO_0000233 | ||
| id |
MONDO:0009940 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#clingen http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder |
|
| label |
pycnodysostosis |
|
| notation |
MONDO:0009940 |
|
| preferred label |
pycnodysostosis |
|
| prefLabel |
pycnodysostosis |
|
| see also |
https://rarediseases.info.nih.gov/diseases/4611/pycnodysostosis |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0002561 |