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GENE - TERM ANNOTATION REPORT

RGD ID: 12304194
Species: Canis lupus familiaris
RGD Object: Gene
Symbol: ANKH
Name: ANKH inorganic pyrophosphate transport regulator
Acc ID: DOID:9006590
Term: Chondrocalcinosis 2
Definition: This disease 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') or chronic arthritis. It can be detected radiographically. Chondrocalcinosis occurs in 3 forms: a primary hereditary form (e.g., CCAL2); a form associated with metabolic disorders (e.g., hyperparathyroidism, hemochromatosis, and hypomagnesemia); and a sporadic form, which may in some cases represent the hereditary form.
Definition Source(s): MIM:118600
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
ANKH ISOANKH (Homo sapiens)7240710OMIM  
ANKH ISOANKH (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: ANKH-related condition | ClinVar Annotator: match by term: Chondrocalcinosis 2PMID:11326272 PMID:12297987 PMID:12297989 PMID:13130483 PMID:19449425 PMID:25741868 PMID:26467025 PMID:2712793 PMID:28492532 PMID:32860008 PMID:8528213 PMID:9915952
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