MCID: FML307
MIFTS: 38

Familial Calcium Pyrophosphate Deposition

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Familial Calcium Pyrophosphate Deposition

MalaCards integrated aliases for Familial Calcium Pyrophosphate Deposition:

Name: Familial Calcium Pyrophosphate Deposition 58
Calcium Pyrophosphate Dihydrate Crystal Deposition Disease 58 54
Hereditary Calcium Pyrophosphate Deposition 58
Calcium Pyrophosphate Deposition Disease 71
Hereditary Articular Chondrocalcinosis 58
Familial Articular Chondrocalcinosis 58
Calcium Pyrophosphate Arthropathy 71
Familial Cppd 58
Hereditary Cc 58
Familial Cc 58

Characteristics:

Orphanet epidemiological data:

58
familial calcium pyrophosphate deposition
Inheritance: Autosomal dominant,Not applicable; Age of onset: Adult; Age of death: normal life expectancy;

Classifications:

Orphanet: 58  
Rare systemic and rhumatological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 M11.1
UMLS via Orphanet 72 C0553730 C0856830
Orphanet 58 ORPHA1416
UMLS 71 C0553730 C0856830

Summaries for Familial Calcium Pyrophosphate Deposition

MalaCards based summary : Familial Calcium Pyrophosphate Deposition, also known as calcium pyrophosphate dihydrate crystal deposition disease, is related to obsolete: familial articular chondrocalcinosis type 1 and obsolete: familial articular chondrocalcinosis type 2. An important gene associated with Familial Calcium Pyrophosphate Deposition is ANKH (ANKH Inorganic Pyrophosphate Transport Regulator). The drugs Prednisone and Povidone have been mentioned in the context of this disorder. Affiliated tissues include bone and testes, and related phenotypes are joint swelling and arthralgia

Wikipedia : 74 Calcium pyrophosphate dihydrate (CPPD) crystal deposition disease, also known as pseudogout and... more...

Related Diseases for Familial Calcium Pyrophosphate Deposition

Diseases related to Familial Calcium Pyrophosphate Deposition via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 54)
# Related Disease Score Top Affiliating Genes
1 obsolete: familial articular chondrocalcinosis type 1 12.5
2 obsolete: familial articular chondrocalcinosis type 2 12.5
3 chondrocalcinosis 2 12.2
4 hyperparathyroidism 10.6
5 osteoarthritis 10.6
6 gout 10.6
7 chondrocalcinosis 10.5
8 chondrosarcoma 10.5
9 synovial chondromatosis 10.5
10 olecranon bursitis 10.4
11 frozen shoulder 10.4
12 calcinosis 10.4
13 ankylosis 10.4
14 bursitis 10.4
15 spinal stenosis 10.4
16 craniometaphyseal dysplasia, autosomal dominant 10.3
17 gilles de la tourette syndrome 10.3
18 osteoporosis 10.3
19 rheumatoid arthritis 10.3
20 sarcoidosis 1 10.3
21 spondylolisthesis 10.3
22 hemochromatosis, type 1 10.3
23 bone mineral density quantitative trait locus 8 10.3
24 bone mineral density quantitative trait locus 15 10.3
25 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
26 hyperphosphatemia 10.3
27 scoliosis 10.3
28 osteonecrosis 10.3
29 osteomyelitis 10.3
30 discitis 10.3
31 primary hyperparathyroidism 10.3
32 hypophosphatasia 10.3
33 hypothyroidism 10.3
34 rectum adenocarcinoma 10.3
35 hyperostosis 10.3
36 synovitis 10.3
37 systemic scleroderma 10.3
38 radiculopathy 10.3
39 hypokalemia 10.3
40 ulnar neuropathy 10.3
41 hydrarthrosis 10.3
42 nerve compression syndrome 10.3
43 connective tissue disease 10.3
44 adenoma 10.3
45 parathyroid adenoma 10.3
46 septic arthritis 10.3
47 arthritis 10.3
48 subacute delirium 10.3
49 back pain 10.3
50 cerebrofacial arteriovenous metameric syndrome 10.3

Graphical network of the top 20 diseases related to Familial Calcium Pyrophosphate Deposition:



Diseases related to Familial Calcium Pyrophosphate Deposition

Symptoms & Phenotypes for Familial Calcium Pyrophosphate Deposition

Human phenotypes related to Familial Calcium Pyrophosphate Deposition:

58 31 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 joint swelling 58 31 hallmark (90%) Very frequent (99-80%) HP:0001386
2 arthralgia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002829
3 abnormality of the intervertebral disk 58 31 hallmark (90%) Very frequent (99-80%) HP:0005108
4 calcification of cartilage 58 31 hallmark (90%) Very frequent (99-80%) HP:0100593
5 osteoarthritis 58 31 frequent (33%) Frequent (79-30%) HP:0002758
6 joint dislocation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001373
7 seizures 58 31 occasional (7.5%) Occasional (29-5%) HP:0001250
8 limitation of joint mobility 58 31 occasional (7.5%) Occasional (29-5%) HP:0001376
9 chondrocalcinosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000934
10 arthritis 58 Very frequent (99-80%)

Drugs & Therapeutics for Familial Calcium Pyrophosphate Deposition

Drugs for Familial Calcium Pyrophosphate Deposition (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 30)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Prednisone Approved, Vet_approved Phase 3 53-03-2 5865
2
Povidone Approved Phase 3 9003-39-8
3
Colchicine Approved Phase 3 64-86-8 6167 2833
4
Calcium Approved, Nutraceutical Phase 3 7440-70-2 271
5 Calcium, Dietary Phase 3
6 Hormones Phase 3
7 Hormone Antagonists Phase 3
8 Antimitotic Agents Phase 3
9 Anti-Inflammatory Agents Phase 3
10 Antineoplastic Agents, Hormonal Phase 3
11 glucocorticoids Phase 3
12 Interleukin 1 Receptor Antagonist Protein Phase 2
13
Triamcinolone Approved, Vet_approved 124-94-7 31307
14
Probenecid Approved, Investigational Early Phase 1 57-66-9 4911
15
Methotrexate Approved 1959-05-2, 59-05-2 126941
16
leucovorin Approved 58-05-9 6006 143
17
Folic acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
18 Triamcinolone hexacetonide
19 Triamcinolone diacetate
20 triamcinolone acetonide
21 Renal Agents Early Phase 1
22 Antirheumatic Agents
23 Immunologic Factors
24 Folic Acid Antagonists
25 Vitamin B Complex
26 Vitamin B9
27 Dermatologic Agents
28 Folate
29 Immunosuppressive Agents
30 Antimetabolites

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Colchicine or Prednisone for the Treatment of Acute Calcium Pyrophosphate Deposition (CPPD) Arthritis: Open-label, Randomized, Multicenter, Equivalence Trial of Efficacy and Safety Recruiting NCT03128905 Phase 3 Colchicine opocalcium 1mg;Prednisone : Cortancyl 20mg
2 Treatment of Refractory Hemochromatosis Rheumatism by Anakinra: a Preliminary Phase II Study Terminated NCT02263638 Phase 2 Anakinra
3 Appraisal of the Diagnostic Rentability of Thorough Analytical Screening Searching Associated Conditions in Patients Newly Diagnosed With Calcium Pyrophosphate Dihydrate Deposition Disease Completed NCT00453128
4 Effects of Local Cryotherapy on Cytokine, VRGF, NFkB and PG-E2 Levels in Knee Arthritis Completed NCT03850392
5 ANK-dependent ATP Efflux Causes Calcium Pyrophosphate Deposition in Cartilage Recruiting NCT02243631 Early Phase 1 Probenecid
6 OMERACT Core Domain Set Selection for Calcium Pyrophosphate Deposition (CPPD): Exploring Patient and Stakeholder Perspectives on Outcome Domains Recruiting NCT04176003
7 A Randomized, Double-blind, Placebo-controlled Clinical Trial of Methotrexate (MTX) in the Treatment of Advanced Knee Osteoarthritis With Effusion-synovitis Not yet recruiting NCT03815448 Methotrexate

Search NIH Clinical Center for Familial Calcium Pyrophosphate Deposition

Genetic Tests for Familial Calcium Pyrophosphate Deposition

Anatomical Context for Familial Calcium Pyrophosphate Deposition

MalaCards organs/tissues related to Familial Calcium Pyrophosphate Deposition:

40
Bone, Testes

Publications for Familial Calcium Pyrophosphate Deposition

Articles related to Familial Calcium Pyrophosphate Deposition:

(show top 50) (show all 161)
# Title Authors PMID Year
1
Mutations in the amino terminus of ANKH in two US families with calcium pyrophosphate dihydrate crystal deposition disease. 54 61 6
13130483 2003
2
Craniometaphyseal dysplasia and chondrocalcinosis cosegregating in a family with an ANKH mutation. 6
19449425 2009
3
Mutations in ANKH cause chondrocalcinosis. 6
12297987 2002
4
Autosomal dominant familial calcium pyrophosphate dihydrate deposition disease is caused by mutation in the transmembrane protein ANKH. 6
12297989 2002
5
Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia. 6
11326272 2001
6
Refinement of the chromosome 5p locus for familial calcium pyrophosphate dihydrate deposition disease. 6
9915952 1999
7
Localisation of a gene for chondrocalcinosis to chromosome 5p. 6
8528213 1995
8
Dominant craniometaphyseal dysplasia--a family study over five generations. 6
2712793 1989
9
The ANKH ΔE490Mutation in Calcium Pyrophosphate Dihydrate Crystal Deposition Disease (CPPDD) affects tissue non-specific Alkaline Phosphatase (TNAP) activities. 54 61
19088867 2008
10
Up-regulated expression of cartilage intermediate-layer protein and ANK in articular hyaline cartilage from patients with calcium pyrophosphate dihydrate crystal deposition disease. 54 61
12483726 2002
11
Cartilage intermediate layer protein expression in calcium pyrophosphate dihydrate crystal deposition disease. 54 61
12180739 2002
12
Cervical CT-Dependent Diagnosis of Crowned Dens Syndrome in Calcium Pyrophosphate Dihydrate Crystal Deposition Disease. 61
31369722 2020
13
A case of tophaceous pseudogout of the temporomandibular joint extending into the cranium. 61
31559516 2019
14
Acute odontogenic infection combined with crowned dens syndrome: a case report. 61
31082330 2019
15
Calcium pyrophosphate dihydrate crystal deposition disease and MRSA septic arthritis of the atlantoaxial joint in a patient with Tourette syndrome. 61
30904893 2019
16
Referral Patterns for Dual-Energy Computed Tomography in Diagnosis and Management of Gout: Ten-Year Experience at a Canadian Institution. 61
30249410 2018
17
Calcium pyrophosphate dihydrate crystal deposition disease of the spinal dura mater: a case report. 61
30363166 2018
18
Histology of the synovial membrane of patients affected by osteoarthritis and calcium pyrophosphate dihydrate crystal deposition disease vs. osteoarthritis alone: a pilot study. 61
27093480 2016
19
Calcium Pyrophosphate Dihydrate Crystal Deposition Disease Simulating Osteoarthrosis of the Knee: A Case Report. 61
27660600 2016
20
Tumoral pseudogout of the proximal interphalangeal joint of a finger: a case report and literature review. 61
27048476 2016
21
The prevalence of chondrocalcinosis of the symphysis pubis on CT scan and correlation with calcium pyrophosphate dihydrate crystal deposition disease. 61
26861035 2016
22
The role of ANKH in pathologic mineralization of cartilage. 61
26599446 2016
23
Posterior C1-C2 calcium pyrophosphate dihydrate crystal deposition disease. 61
26976840 2016
24
Diagnostic accuracy of ultrasound, conventional radiography and synovial fluid analysis in the diagnosis of calcium pyrophosphate dihydrate crystal deposition disease. 61
26886247 2016
25
Calcium Pyrophosphate Dihydrate Crystal Deposition Disease of the Sternoclavicular Joint. 61
26693128 2015
26
[Calcium pyrophosphate dihydrate crystal deposition disease as an example of illness presentation in the elderly]. 61
26204548 2015
27
A Rare Case of Tumoral Calcium Pyrophosphate Dihydrate Crystal Deposition Disease of the Wrist Joint. 61
26783477 2015
28
Musculoskeletal Ultrasound Diagnosis in Calcium Pyrophosphate Dihydrate Crystal Deposition Disease. 61
26788360 2014
29
Detection of calcium pyrophosphate dihydrate crystal deposition disease by dual-energy computed tomography. 61
24851080 2014
30
Additive value for ultrasonographic signal in a screening algorithm for patients presenting with acute mono-/oligoarthritis in whom gout is suspected. 61
24510062 2014
31
Imaging characteristics of calcium pyrophosphate dihydrate crystal deposition disease. 61
22561381 2014
32
Upregulation of ANK protein expression in joint tissue in calcium pyrophosphate dihydrate crystal deposition disease. 61
24293574 2014
33
Bilateral Olecranon Bursitis - A Rare Clinical presentation of Calcium Pyrophosphate Crystal Deposition Disease. 61
27298934 2014
34
Calcium pyrophosphate crystal deposition disease: diagnosis and treatment. 61
27790033 2014
35
Calcium pyrophosphate dihydrate crystal deposition disease (pseudogout) of lumbar spine mimicking osteomyelitis-discitis with epidural phlegmon. 61
24078961 2013
36
Calcium pyrophosphate dihydrate deposition disease of the filum terminale. 61
23455952 2013
37
Flexor tendon rupture of the little finger caused by calcium pyrophosphate dihydrate crystal deposition disease of the pisotriquetrum joint. 61
24156589 2013
38
Synovial chondromatosis of the temporomandibular joint with calcium pyrophosphate dihydrate crystal deposition disease (pseudogout). 61
23166363 2012
39
[Calcium pyrophosphate dihydrate crystal deposition disease: a clinicopathologic analysis of 20 cases]. 61
23324232 2012
40
The diagnosis of calcium pyrophosphate dihydrate crystal deposition disease: the good, the bad and… ultrasonography! 61
22842294 2012
41
A case of destructive calcium pyrophosphate dihydrate crystal deposition disease of the temporomandibular joint: a diagnostic challenge. 61
21676588 2011
42
Mimicry in older patients: tophaceous pseudogout as a tumorlike lesion: a case report. 61
21957280 2011
43
Gout and coexisting pseudogout in the knee joint. 61
20802996 2011
44
Manual labor metacarpophalangeal arthropathy in a truck driver: a case report. 61
22027112 2010
45
Pseudogout of the first metatarsophalangeal joint associated with hallux valgus: an atypical bilateral case. 61
20237366 2010
46
Tumoral calcium pyrophosphate dihydrate crystal deposition disease: a rare diagnosis by fine-needle aspiration. 61
19688761 2010
47
Familial hypocalciuric hypercalcemia revealed by chondrocalcinosis. 61
19467900 2009
48
An idiopathic case of calcium pyrophosphate dihydrate crystal deposition disease with crowned dens syndrome in a young patient. 61
19668044 2009
49
An update on the epidemiology of calcium pyrophosphate dihydrate crystal deposition disease. 61
19398486 2009
50
The CPPDD-associated ANKH M48T mutation interrupts the interaction of ANKH with the sodium/phosphate cotransporter PiT-1. 61
19369455 2009

Variations for Familial Calcium Pyrophosphate Deposition

ClinVar genetic disease variations for Familial Calcium Pyrophosphate Deposition:

6 (show top 50) (show all 147) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ANKH NM_054027.6(ANKH):c.288C>T (p.Ile96=)SNV Conflicting interpretations of pathogenicity 351560 rs373730199 5:14769109-14769109 5:14769000-14769000
2 ANKH NM_054027.6(ANKH):c.585C>T (p.Leu195=)SNV Uncertain significance 351543 rs200216941 5:14751280-14751280 5:14751171-14751171
3 ANKH NM_054027.6(ANKH):c.314-13C>TSNV Uncertain significance 351556 rs201856062 5:14758720-14758720 5:14758611-14758611
4 ANKH NM_054027.6(ANKH):c.-89_-80delinsTCindel Uncertain significance 351929 rs886060202 5:14871636-14871645 5:14871527-14871536
5 ANKH NM_054027.6(ANKH):c.*4137G>CSNV Uncertain significance 351420 rs886060072 5:14707169-14707169 5:14707060-14707060
6 ANKH NM_054027.6(ANKH):c.*2699G>CSNV Uncertain significance 351442 rs569690245 5:14708607-14708607 5:14708498-14708498
7 ANKH NM_054027.6(ANKH):c.*2644G>CSNV Uncertain significance 351444 rs886060076 5:14708662-14708662 5:14708553-14708553
8 ANKH NM_054027.6(ANKH):c.*2301deldeletion Uncertain significance 351450 rs796083754 5:14709005-14709005 5:14708896-14708896
9 ANKH NM_054027.6(ANKH):c.*2113deldeletion Uncertain significance 351456 rs753413461 5:14709193-14709193 5:14709084-14709084
10 ANKH NM_054027.6(ANKH):c.*1626G>ASNV Uncertain significance 351464 rs760609731 5:14709680-14709680 5:14709571-14709571
11 ANKH NM_054027.6(ANKH):c.*1270A>CSNV Uncertain significance 351469 rs187733448 5:14710036-14710036 5:14709927-14709927
12 ANKH NM_054027.6(ANKH):c.*781T>ASNV Uncertain significance 351481 rs886060086 5:14710525-14710525 5:14710416-14710416
13 ANKH NM_054027.6(ANKH):c.*4250T>CSNV Uncertain significance 351416 rs776929735 5:14707056-14707056 5:14706947-14706947
14 ANKH NM_054027.6(ANKH):c.*3962T>CSNV Uncertain significance 351422 rs528418242 5:14707344-14707344 5:14707235-14707235
15 ANKH NM_054027.6(ANKH):c.*3664C>TSNV Uncertain significance 351430 rs886060073 5:14707642-14707642 5:14707533-14707533
16 ANKH NM_054027.6(ANKH):c.*3559G>CSNV Uncertain significance 351434 rs886060074 5:14707747-14707747 5:14707638-14707638
17 ANKH NM_054027.6(ANKH):c.1115G>A (p.Arg372Gln)SNV Uncertain significance 351504 rs544848340 5:14716841-14716841 5:14716732-14716732
18 ANKH NM_054027.6(ANKH):c.313+12G>ASNV Uncertain significance 351557 rs769050375 5:14769072-14769072 5:14768963-14768963
19 ANKH NM_054027.6(ANKH):c.*6205G>ASNV Uncertain significance 351388 rs886060065 5:14705101-14705101 5:14704992-14704992
20 ANKH NM_054027.6(ANKH):c.*6129G>ASNV Uncertain significance 351390 rs757736999 5:14705177-14705177 5:14705068-14705068
21 ANKH NM_054027.6(ANKH):c.*5912deldeletion Uncertain significance 351395 rs765143871 5:14705394-14705394 5:14705285-14705285
22 ANKH NM_054027.6(ANKH):c.*5898G>ASNV Uncertain significance 351397 rs886060069 5:14705408-14705408 5:14705299-14705299
23 ANKH NM_054027.6(ANKH):c.-291_-289CCG[5]short repeat Uncertain significance 351935 rs531421951 5:14871827-14871832 5:14871718-14871723
24 ANKH NM_054027.6(ANKH):c.-291_-289CCG[9]short repeat Uncertain significance 351933 rs531421951 5:14871826-14871827 5:14871717-14871718
25 ANKH NM_054027.6(ANKH):c.*5593G>CSNV Uncertain significance 351404 rs886060070 5:14705713-14705713 5:14705604-14705604
26 ANKH NM_054027.6(ANKH):c.*6041T>CSNV Uncertain significance 351391 rs886060066 5:14705265-14705265 5:14705156-14705156
27 ANKH NM_054027.6(ANKH):c.*6034A>CSNV Uncertain significance 351392 rs886060067 5:14705272-14705272 5:14705163-14705163
28 ANKH NM_054027.6(ANKH):c.*4704T>GSNV Uncertain significance 351410 rs886060071 5:14706602-14706602 5:14706493-14706493
29 ANKH NM_054027.6(ANKH):c.*3616C>TSNV Uncertain significance 351433 rs550672520 5:14707690-14707690 5:14707581-14707581
30 ANKH NM_054027.6(ANKH):c.*3548G>ASNV Uncertain significance 351435 rs539426552 5:14707758-14707758 5:14707649-14707649
31 ANKH NM_054027.6(ANKH):c.*3386G>ASNV Uncertain significance 351437 rs368727070 5:14707920-14707920 5:14707811-14707811
32 ANKH NM_054027.6(ANKH):c.*2770C>TSNV Uncertain significance 351440 rs563898623 5:14708536-14708536 5:14708427-14708427
33 ANKH NM_054027.6(ANKH):c.*2694T>CSNV Uncertain significance 351443 rs886060075 5:14708612-14708612 5:14708503-14708503
34 ANKH NM_054027.6(ANKH):c.*2428G>CSNV Uncertain significance 351447 rs886060077 5:14708878-14708878 5:14708769-14708769
35 ANKH NM_054027.6(ANKH):c.*2243C>GSNV Uncertain significance 351452 rs531980160 5:14709063-14709063 5:14708954-14708954
36 ANKH NM_054027.6(ANKH):c.*1370C>GSNV Uncertain significance 351465 rs191464917 5:14709936-14709936 5:14709827-14709827
37 ANKH NM_054027.6(ANKH):c.*1354A>GSNV Uncertain significance 351466 rs886060080 5:14709952-14709952 5:14709843-14709843
38 ANKH NM_054027.6(ANKH):c.*1058C>TSNV Uncertain significance 351472 rs886060084 5:14710248-14710248 5:14710139-14710139
39 ANKH NM_054027.6(ANKH):c.-80_-79insCinsertion Uncertain significance 351928 rs886060201 5:14871635-14871636 5:14871526-14871527
40 ANKH NM_054027.6(ANKH):c.-128_-80delinsCGCindel Uncertain significance 351930 rs886060203 5:14871636-14871684 5:14871527-14871575
41 ANKH NM_054027.6(ANKH):c.-87T>ASNV Uncertain significance 351931 rs886060204 5:14871643-14871643 5:14871534-14871534
42 ANKH NM_054027.6(ANKH):c.-291_-289CCG[6]short repeat Uncertain significance 351934 rs531421951 5:14871827-14871829 5:14871718-14871720
43 ANKH NM_054027.6(ANKH):c.*5912T>ASNV Uncertain significance 351396 rs886060068 5:14705394-14705394 5:14705285-14705285
44 ANKH NM_054027.6(ANKH):c.*5912dupduplication Uncertain significance 351394 rs765143871 5:14705393-14705394 5:14705284-14705285
45 ANKH NM_054027.6(ANKH):c.*5034deldeletion Uncertain significance 351408 rs541644826 5:14706272-14706272 5:14706163-14706163
46 ANKH NM_054027.6(ANKH):c.*1668A>CSNV Uncertain significance 351463 rs886060079 5:14709638-14709638 5:14709529-14709529
47 ANKH NM_054027.6(ANKH):c.*1318_*1321ATTT[1]short repeat Uncertain significance 351467 rs886060081 5:14709981-14709984 5:14709872-14709875
48 ANKH NM_054027.6(ANKH):c.*1211deldeletion Uncertain significance 351470 rs886060082 5:14710095-14710095 5:14709986-14709986
49 ANKH NM_054027.6(ANKH):c.*1081C>TSNV Uncertain significance 351471 rs886060083 5:14710225-14710225 5:14710116-14710116
50 ANKH NM_054027.6(ANKH):c.*921A>GSNV Uncertain significance 351476 rs886060085 5:14710385-14710385 5:14710276-14710276

Expression for Familial Calcium Pyrophosphate Deposition

Search GEO for disease gene expression data for Familial Calcium Pyrophosphate Deposition.

Pathways for Familial Calcium Pyrophosphate Deposition

GO Terms for Familial Calcium Pyrophosphate Deposition

Sources for Familial Calcium Pyrophosphate Deposition

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
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28 GO
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32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
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39 LOVD
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43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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