General Information of Disease (ID: DISZDQIW)

Disease Name Chondrocalcinosis 2
Synonyms
calcium gout; calcium pyrophosphate dihydrate deposition disease; calcium pyrophosphate arthropathy, familial; calcium pyrophosphate arthropathy; Pseudogout, familial; CCAL2; CPPDD; chondrocalcinosis, familial articular; calcium gout, familial; chondrocalcinosis familial articular; calcium pyrophosphate dihydrate crystal deposition disease; familial CC; familial calcium pyrophosphate dihydrate deposition disease; Familial Calcium Pyrophosphate Deposition Disease; familial articular chondrocalcinosis; chondrocalcinosis 2; chondrocalcinosis type 2; familial calcium pyrophosphate deposition; hereditary CC; hereditary calcium pyrophosphate deposition; familial CPPD; hereditary articular chondrocalcinosis
Definition
A chronic inherited arthropathy characterized by chondrocalcinosis (CC; i.e. cartilage calcification), often associated with recurrent acute calcium pyrophosphate (CPP) crystal arthritis and polyarticular osteoarthritis (OA).
Disease Hierarchy
DISP4AHX: Chondrocalcinosis
DIS5A054: Abnormal mineralization disorder
DISO5FAY: Inborn error of metabolism
DIS8I9FS: Hereditary disorder of connective tissue
DIS77ACK: Rheumatic disorder
DISZDQIW: Chondrocalcinosis 2
Disease Identifiers
MONDO ID
MONDO_0007319
MESH ID
C563162
UMLS CUI
C0856830
OMIM ID
118600
MedGen ID
163633
Orphanet ID
1416

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SLC20A1 DTMULXV Strong Genetic Variation [1]
ANKH DTT3SXN Definitive Autosomal dominant [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ANKH OTCN25R5 Definitive Autosomal dominant [2]
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References

1 The CPPDD-associated ANKH M48T mutation interrupts the interaction of ANKH with the sodium/phosphate cotransporter PiT-1.J Rheumatol. 2009 Jun;36(6):1265-72. doi: 10.3899/jrheum.081118. Epub 2009 Apr 15.
2 Localisation of a gene for chondrocalcinosis to chromosome 5p. Hum Mol Genet. 1995 Jul;4(7):1225-8. doi: 10.1093/hmg/4.7.1225.