ORPHA:1416
Familial calcium pyrophosphate deposition
Synonyms: Calcium pyrophosphate dihydrate crystal deposition disease · Familial CC · Familial CPPD · Familial articular chondrocalcinosis · Hereditary CC · Hereditary articular chondrocalcinosis · Hereditary calcium pyrophosphate deposition
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Adult
- Status
- active
A rare inherited rheumatologic disease which causes calcification of articular fibrocartilage or hyaline cartilage, a process termed chondrocalcinosis (CC). It often associates with acute synovitis and osteoarthritis (OA).
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial calcium pyrophosphate deposition | Calcium pyrophosphate dihydrate crystal deposition disease · Familial CC · Familial CPPD · Familial articular chondrocalcinosis · Hereditary CC · Hereditary articular chondrocalcinosis · Hereditary calcium pyrophosphate deposition |
| fr | Arthropathie familiale à cristaux de pyrophosphate de calcium | Arthropathie à cristaux de pyrophosphate de calcium dihydraté · CC familiale · CC héréditaire · CPPD familiale · CPPD héréditaire · Chondrocalcinose articulaire héréditaire · Maladie des dépôts de pyrophosphate de calcium dihydraté |
| de | Familiäre Kalziumpyrophosphat-Ablagerung | CPPDD · Chondrokalzinose, artikuläre familiäre · Hereditäre artikuläre Chondrokalzinose · Kalciumpyrophosphat-Dihydrat (CPPD)-Kristall-Ablagerung · Kalziumpyrophosphat-Arthritis · Kalziumpyrophosphat-Kristallarthropathie |
| es | Deposición familiar de pirofosfato cálcico | |
| it | Accumulo familiare di pirofosfato di calcio | Accumulo ereditario di pirofosfato di calcio · CC ereditaria · CC familiare · CPPD familiare · Condrocalcinosi articolare ereditaria · Condrocalcinosi articolare familiare · Malattia da accumulo di cristalli di pirosfato di calcio diidrato |
| nl | Familiale depositie van calciumpyrofosfaat | Aandoening door depositie van calciumpyrofosfaatdihydraatkristallen · Erfelijke CC · Erfelijke afzetting van calciumpyrofosfaat · Erfelijke articulaire chondrocalcinose · Familiale CC · Familiale CPPD · Familiale articulaire chondrocalcinose |
| pt | Deposição de pirofosfato de cálcio familiar | Condrocalcinose articular familiar |
| pl | Rodzinne odkładanie się fosforanu wapnia | Choroba z odkładaniem się kryształów dwuwodnego fosforanu wapnia · Dziedziczna CC · Dziedziczna chondrokalcynoza stawów · Dziedziczne odkładanie się fosforanu wapnia · Rodzinna CC · Rodzinna chondrokalcynoza stawów · Rodzinna CPPD |
| cs | Familiární ukládání kalcium pyrofosfátu | Familiární CC · Familiární CPPD · Familiární kloubní chondrokalcinóza · Nemoc z ukládání krystalů kalcium pyrofosfát dihydrátu · Dědičná CC · Dědičná kloubní chondrokalcinóza · Dědičné ukládání kalcium pyrofosfátu |
| uk | Сімейні відкладення пірофосфату кальцію | Хвороба відкладення кристалів пірофосфату дигідрату кальцію · Сімейний суглобовий хондрокальциноз · Сімейний СС · Сімейний CPPD · Спадковий суглобовий хондрокальциноз · Спадкове відкладення пірофосфату кальцію · Спадковий СС |
| zh | 家族性焦磷酸钙沉着 | 焦磷酸二水合钙结晶沉积病 |
| tr | Ailesel kalsiyum pirofosfat birikimi | Ailesel CC · Ailesel CPPD · Kalıtsal CC · Ailesel eklem kondrokalsinozu · Kalıtsal eklem kondrokalsinozu · Kalıtsal kalsiyum pirofosfat birikimi · Kalsiyum pirofosfat dihidrat kristal birikim hastalığı |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 118600 | E | validated | |
| OMIM | 600668 | BTNT | validated | |
| ICD-10 | M11.1 | E | specific | validated |
| ICD-11 | FA26.0 | E | specific | validated |
| MONDO | 7319 | E | validated | |
| UMLS | C5700249 | E | validated | |
| GARD | 1292 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:93447Primary bone dysplasia with defective bone mineralization
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:271870Rare genetic systemic or rheumatologic disease
rare genetic diseases - ORPHA:182231Rare rheumatologic disease
rare systemic and rheumatological diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:99781OBSOLETE: Familial articular chondrocalcinosis type 1 referred to · inactive
- ORPHA:99782OBSOLETE: Familial articular chondrocalcinosis type 2 referred to · inactive
4
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TNFRSF11B | Candidate gene tested in | Not yet assessed | HGNC:11909 | ENSG00000164761 | 602643 | 8q24.12 | TNF receptor superfamily member 11b | 29578045[PMID] |
| ANKH | Disease-causing germline mutation(s) in | Assessed | HGNC:15492 | ENSG00000154122 | 605145 | 5p15.2 | ANKH inorganic pyrophosphate transport regulator | 21102543[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 100 families | Worldwide | Family(ies) | Validated | [EXPERT] | |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
17 annotations · validated 2024-02-05| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0005108 | Abnormal intervertebral disk morphology | |
| HP:0002829 | Arthralgia | |
| HP:0001369 | Arthritis | |
| HP:0100593 | Calcification of cartilage | |
| HP:0001386 | Joint swelling | |
| Frequent (79-30%) | ||
| HP:0002758 | Osteoarthritis | |
| Occasional (29-5%) | ||
| HP:0031013 | Ankylosis | |
| HP:0000934 | Chondrocalcinosis | |
| HP:0045082 | Decreased body mass index | |
| HP:0001945 | Fever | |
| HP:0012649 | Increased inflammatory response | |
| HP:0001373 | Joint dislocation | |
| HP:0001387 | Joint stiffness | |
| HP:0001376 | Limitation of joint mobility | |
| HP:0004349 | Reduced bone mineral density | |
| HP:0100769 | Synovitis | |
| Very rare (<4-1%) | ||
| HP:0001250 | Seizure | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 34696986[PMID]_26626724[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1416
- This record as JSON: /data/d/1416.json