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Pycnodysostosis (CUI C0238402) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0238402

NCI Thesaurus Code: C131187  (see NCI Thesaurus info)

Semantic Type: Disease or Syndrome

NCIt Definition: An autosomal recessive disorder caused by loss-of-function mutation(s) in the CTSK gene, encoding cathepsin K, an enzyme involved in bone resorption by osteoclasts. This condition is characterized by some or all of the following: osteosclerosis, short stature, pituitary hypoplasia with growth hormone deficiency, and cerebral demyelination.

GARD Definition: Pycnodysostosis is a rare condition characterized by moderate short stature (1.35m to 1.5m), increased density of the bones (osteosclerosis/osteopetrosis), underdevelopment of the tips of the fingers with absent or small nails, an abnomal 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 genetic condition.  The gene has been mapped to the same location as the gene for cathepsin K on chromosome 1q21.  The diagnosis of pycnodysostosis is based on physical features and X-ray findings.  Molecular genetic testing is available.  Management is symptomatic.  Individuals need orthopedic monitoring, treatment of fractures, appropriate dental care, and craniofacial surgery may be needed. - this information is from GARD/ORDR/NCATS.

NICHD Definition: An autosomal recessive disorder caused by loss-of-function mutation(s) in the CTSK gene, encoding cathepsin K, an enzyme involved in bone resorption by osteoclasts. This condition is characterized by some or all of the following: osteosclerosis, short stature, pituitary hypoplasia with growth hormone deficiency, and cerebral demyelination.

MSH Definition: 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.

Synonyms & Abbreviations: (see Synonym Details)
Maroteaux-Lamy pyknodysostosis syndrome
MAROTEAUX-LAMY SYNDROME 2
Maroteaux-Lamy syndrome II
PKND
PYCD
Pycnodysostoses
Pycnodysostosis [Disease/Finding]
PYCNODYSOSTOSIS
Pyknodysostoses
Pyknodysostosis (disorder)
PYKNODYSOSTOSIS
Stanesco's dysostosis syndrome

External Source Codes: 
NCI Thesaurus Code C131187 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
AQL BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI MSH
CASE_SIGNIFICANCE_ID 900000000000017005 SNOMEDCT_US
CASE_SIGNIFICANCE_ID 900000000000448009 SNOMEDCT_US
CHARACTERISTIC_TYPE_ID 900000000000011006 SNOMEDCT_US
Contributing_Source NICHD NCI
CTV3ID PG59. SNOMEDCT_US
DATE_CREATED 2013-01-09T00:04:00 GARD
DATE_LAST_MODIFIED 2013-01-09T00:04:00 GARD
DC 1 MSH
DEFINITION_STATUS_ID 900000000000074008 SNOMEDCT_US
DISEASE_IDENTIFIER_ID 14495 GARD
DISEASE_IDENTIFIER_ID 14496 GARD
DISEASE_IDENTIFIER_ID 14497 GARD
DX 20110101 MSH
EFFECTIVE_TIME 20020131 SNOMEDCT_US
GENELOCUS ,1,q,2,1, OMIM
GENESYMBOL CTSK OMIM
HAS_GARD_PAGE true GARD
HN 2011 MSH
IDENTIFIER_TYPE_ID 1 GARD
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
LAST_REVIEW_DATE 2009-11-11T00:00:00 GARD
MDA 20100625 MSH
MESH_DEFINITION 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. NDFRT
MESH_DUI D058631 NDFRT
MESH_NAME Pycnodysostosis NDFRT
MESH_UI M0530711 NDFRT
MIMTYPE 3 OMIM
MIMTYPEMEANING Phenotype description, molecular basis known. OMIM
MIMTYPEVALUE pound OMIM
MMR 20120703 MSH
MN C05.116.099.708.779 MSH
MN C16.320.565.595.800 MSH
MN C16.320.812 MSH
MN C18.452.648.595.800 MSH
MODIFIER_ID 900000000000451002 SNOMEDCT_US
NDFRT_KIND DISEASE_KIND NDFRT
NICHD_Hierarchy_Term Pycnodysostosis NCI
NUI N0000182174 NDFRT
PM 2011 MSH
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/4611/pycnodysostosis/resources/1 GARD
RXAUI 3606269 RXNORM
RXAUI 3606270 RXNORM
RXAUI 3606273 RXNORM
RXCUI 1104157 RXNORM
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS Q78.8 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPTARGET~Q78.8 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS Q78.8 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~Q78.8 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~PG59. SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
TERMUI T738732 MSH
TERMUI T738733 MSH
TH NLM (2011) MSH
TH OMIM (2013) MSH
TH ORD (2010) MSH
TYPE_ID 900000000000003001 SNOMEDCT_US
TYPE_ID 900000000000013009 SNOMEDCT_US

Additional Concept Data:  (none)

URL to Bookmark: https://ncim-stage.nci.nih.gov/ncimbrowser/ConceptReport.jsp?dictionary=NCI Metathesaurus&code=C0238402

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