| Descriptor English: | Pycnodysostosis | ||||
| Descriptor Spanish: |
Picnodisostosis
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| Descriptor Portuguese: | Picnodisostose | ||||
| Descriptor French: | Pycnodysostose | ||||
| Entry term(s): |
Pycnodysostoses Pyknodysostoses Pyknodysostosis |
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| Tree number(s): |
C05.116.099.708.779 C16.320.565.595.800 C16.320.812 C18.452.648.595.800 |
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| RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D058631 | ||||
| Scope note: | Rare autosomal recessive syndrome characterized by delayed closing of CRANIAL SUTURES, short stature, ACRO-OSTEOLYSIS of distal phalanges, dental and MAXILLOFACIAL ABNORMALITIES and an increase in bone density that results in frequent BONE FRACTURES. It is associated with BONE RESORPTION defect due to mutations in the lysosomal cysteine protease CATHEPSIN K. |
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| Allowable Qualifiers: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VE veterinary VI virology |
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| Previous Indexing: |
Dysostoses (1966-2010) |
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| Public MeSH Note: | 2011 |
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| History Note: | 2011 |
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| DeCS ID: | 53947 | ||||
| Unique ID: | D058631 | ||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||
| Date Established: | 2011/01/01 | ||||
| Date of Entry: | 2010/06/25 | ||||
| Revision Date: | 2012/07/03 |
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Pycnodysostosis
- Preferred
| Concept UI |
M0530711 |
| Scope note | Rare autosomal recessive syndrome characterized by delayed closing of CRANIAL SUTURES, short stature, ACRO-OSTEOLYSIS of distal phalanges, dental and MAXILLOFACIAL ABNORMALITIES and an increase in bone density that results in frequent BONE FRACTURES. It is associated with BONE RESORPTION defect due to mutations in the lysosomal cysteine protease CATHEPSIN K. |
| Preferred term | Pycnodysostosis |
| Entry term(s) |
Pycnodysostoses Pyknodysostoses Pyknodysostosis |
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