Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0019214 (
hepatosplenomegaly
)
4,408
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Pyknodysostosis is a rare autosomal recessive osteosclerosing skeletal disorder caused by mutations in the
CTSK
gene situated at 1q21 that codes for cathepsin K - a lysosomal cysteine protease. Mutations in this gene affect the metabolism of skeletal system. This causes problems in bone resorption and remodelling and craniofacial abnormalities. In this article we report a case of 12 year old female from Punjab with pyknodysostosis having
hepatosplenomegaly
and simian crease.
...
PMID:Pyknodysostosis: visceral manifestations and simian crease. 1516 81
