Details of Disease

General Information of Disease (ID: DIS5PU87)

Disease Name Skeletal system disorder
Synonyms
osteoarthropathy; disease of bone and/or joint; disorder of skeletal system; disease or disorder of skeletal system; skeletal system disease; disease of skeletal system; skeletal system disease or disorder
Definition A disease involving the skeletal system.
Disease Hierarchy
DISPPN0O: Musculoskeletal disorder
DISWD40R: Disease
DIS5PU87: Skeletal system disorder
Disease Identifiers
MONDO ID
MONDO_0005172
UMLS CUI
C0263661
MedGen ID
538042
SNOMED CT ID
88230002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
SOST TTYRO4F Limited Biomarker [1]
SHH TTIENCJ Moderate Autosomal dominant [2]
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This Disease Is Related to 5 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
EXT2 OT8IR5QN Limited Genetic Variation [3]
DYNC2H1 OTLC8K6B moderate Genetic Variation [4]
FAM20C OTW5YZ7X moderate Biomarker [5]
SHH OTOG2BXF Moderate Autosomal dominant [2]
CCN6 OTRFHQ2Z Strong Genetic Variation [6]
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References

1 Sclerostin is an osteocyte-expressed negative regulator of bone formation, but not a classical BMP antagonist.J Exp Med. 2004 Mar 15;199(6):805-14. doi: 10.1084/jem.20031454.
2 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
3 Somatic loss of an EXT2 gene mutation during malignant progression in a patient with hereditary multiple osteochondromas.Cancer Genet. 2015 Mar;208(3):62-7. doi: 10.1016/j.cancergen.2015.01.002. Epub 2015 Jan 16.
4 Targeted gene panel sequencing prenatally detects two novel mutations of DYNC2H1 in a fetus with increased biparietal diameter and polyhydramnios.Birth Defects Res. 2018 Mar 1;110(4):364-371. doi: 10.1002/bdr2.1146. Epub 2018 Jan 23.
5 Ancestral roles of the Fam20C family of secreted protein kinases revealed in C. elegans.J Cell Biol. 2019 Nov 4;218(11):3795-3811. doi: 10.1083/jcb.201807041. Epub 2019 Sep 20.
6 A homozygous recurring mutation in WISP3 causing progressive pseudorheumatoid arthropathy.J Pediatr Endocrinol Metab. 2011;24(1-2):105-8. doi: 10.1515/jpem.2011.117.