CHONDROCALCINOSIS 2

General Information (adopted from Orphanet):

Synonyms, Signs: CHONDROCALCINOSIS, FAMILIAL ARTICULAR
CALCIUM PYROPHOSPHATE DIHYDRATE DEPOSITION DISEASE
CALCIUM PYROPHOSPHATE ARTHROPATHY
CALCIUM GOUT
CCAL2
CPPDD
Number of Symptoms 6
OrphanetNr:
OMIM Id: 118600
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset: Adult onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0003040) Arthropathy 19 / 7739
2
(HPO:0002758) Osteoarthritis 78 / 7739
3
(HPO:0005017) Polyarticular chondrocalcinosis 2 / 7739
4
(OMIM) Pseudogout 1 / 7739
5
(OMIM) Pseudoosteoarthritis 1 / 7739
6
(OMIM) Calcium pyrophsophate dihydrate (CPPD) crystal deposition (knee, symphysis pubis, wrist) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Chondrocalcinosis, or cartilage calcification, is a common condition that usually results from deposition of crystals of calcium pyrophosphate dihydrate (CPPD) in articular hyaline and fibro-cartilage. CPPD crystal deposition may be asymptomatic or associated with characteristic acute attacks ('pseudogout') ...
Clinical Description OMIM Under the designation of chondrocalcinosis articularis, Aschoff et al. (1966) described a family with 4 affected persons in 2 generations. The disorder was manifested clinically by episodic inflammatory involvement, acute or subacute, of one or more joints. Calcified ...
Molecular genetics OMIM Pendleton et al. (2002) showed that affected members of the families with chondrocalcinosis-2 reported by Hughes et al. (1995) and Andrew et al. (1999) had mutations in the ANKH gene; see 605145.0006-605145.0007.

Williams et al. (2003) ...