CALJA
MCID: CLC017
MIFTS: 45

Calcification of Joints and Arteries (CALJA)

Categories: Cardiovascular diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Calcification of Joints and Arteries

MalaCards integrated aliases for Calcification of Joints and Arteries:

Name: Calcification of Joints and Arteries 56 12 58 73 36 29 13 6 39 71
Calja 56 12 58 73
Hereditary Arterial and Articular Multiple Calcification Syndrome 12 58 15
Arterial Calcification and Distal Joint Calcification 12 52
Arterial Calcification Due to Deficiency of Cd73 56 52
Arterial Calcification Due to Cd73 Deficiency 12 52
Acdc 56 52
Arterial Calcification Due to Deficiency of Cd73; Acdc 56
Arterial Calcification Due to Deficiency of Cd73:acdc 12
Calcification of Joints and Arteries; Calja 52

Characteristics:

Orphanet epidemiological data:

58
hereditary arterial and articular multiple calcification syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
calcification of joints and arteries:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare circulatory system diseases


External Ids:

Disease Ontology 12 DOID:0111582
OMIM 56 211800
KEGG 36 H00824
MeSH 43 D002114
Orphanet 58 ORPHA289601
MedGen 41 C1859372
UMLS 71 C1859372

Summaries for Calcification of Joints and Arteries

NIH Rare Diseases : 52 A rterial c alcification due to d eficiency of C D73 , or ACDC, is a rare, adult-onset vascular disorder . People with ACDC have calcium build-up in the large vessels (mainly below the waist) and in the joints of the hands and feet. Signs and symptoms may include progressive pain and cramping in the calves, thighs, buttocks, feet, and/or hands. The age of onset has been reported as early as the second decade of life. ACDC is caused by mutations in the NT5E gene and is inherited in an autosomal recessive manner.

MalaCards based summary : Calcification of Joints and Arteries, also known as calja, is related to cholecystitis and leptin deficiency or dysfunction. An important gene associated with Calcification of Joints and Arteries is NT5E (5'-Nucleotidase Ecto), and among its related pathways/superpathways are Purine metabolism and Pyrimidine metabolism. The drugs Moxifloxacin and Anti-Infective Agents have been mentioned in the context of this disorder. Affiliated tissues include brain and prostate, and related phenotypes are arterial occlusion and decreased serum creatinine

Disease Ontology : 12 A syndrome characterized by adult onset of calcification of arteries in the lower extremities and of the hand and foot capsule joints that has material basis in homozygous or compound heterozygous mutation in NT5E on chromosome 6q14.3.

OMIM : 56 Adult-onset calcification of the lower extremity arteries, including the iliac, femoral, and tibial arteries, and hand and foot capsule joints is an autosomal recessive condition that represents only the second mendelian disorder of isolated calcification (see generalized arterial calcification of infancy (GACI), 208000). Age of onset has been reported as early as the second decade of life, usually involving intense joint pain or calcification in the hands (St. Hilaire et al., 2011). (211800)

KEGG : 36 Calcification of joints and arteries is a condition in which calcifications of the lower-extremity arteries and articular capsules of hand and foot occur. Affected individuals harbor mutations in NT5E encoding CD73 that converts AMP to adenosine.

UniProtKB/Swiss-Prot : 73 Calcification of joints and arteries: A condition characterized by adult-onset calcification of the lower extremity arteries, including the iliac, femoral and tibial arteries, and hand and foot capsule joints. Age of onset has been reported as early as the second decade of life, usually involving intense joint pain or calcification in the hands.

Wikipedia : 74 Arterial calcification due to CD73 deficiency or Calcification of joints and arteries is a rare genetic... more...

Related Diseases for Calcification of Joints and Arteries

Graphical network of the top 20 diseases related to Calcification of Joints and Arteries:



Diseases related to Calcification of Joints and Arteries

Symptoms & Phenotypes for Calcification of Joints and Arteries

Human phenotypes related to Calcification of Joints and Arteries:

58 31 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 arterial occlusion 58 31 hallmark (90%) Very frequent (99-80%) HP:0025324
2 decreased serum creatinine 58 31 frequent (33%) Frequent (79-30%) HP:0012101
3 coronary artery calcification 58 31 occasional (7.5%) Occasional (29-5%) HP:0001717
4 arterial tortuosity 58 31 occasional (7.5%) Occasional (29-5%) HP:0005116
5 abnormality of the vertebral column 31 HP:0000925
6 abnormality of cardiovascular system physiology 58 Very frequent (99-80%)
7 abnormal joint morphology 31 HP:0001367
8 large artery calcification 58 Very frequent (99-80%)
9 abnormal vascular morphology 58 Very frequent (99-80%)
10 arterial calcification 31 HP:0003207
11 ectopic ossification 31 HP:0011986
12 periarticular calcification 31 HP:0025477

Symptoms via clinical synopsis from OMIM:

56
Skeletal:
ectopic ossification
dystrophic calcification

Cardiovascular Heart:
mitral valve ring calcification (in some patients)
aortic valve ring calcification (in some patients)

Skeletal Limbs:
vascular and periarticular calcifications (shoulders, elbows, hips, and knees)
tendon calcification (knee, lateral ligament and quadriceps)

Skeletal Feet:
periarticular joint capsule calcifications

Cardiovascular Vascular:
claudication
abdominal aorta, calcification of
iliac, femoral, tibial, and popliteal artery calcification
coronary and carotid arteries spared (in most patients)
arteriomegaly, diffuse, secondary to femoropopliteal occlusion

Skeletal Spine:
intervertebral disc and interspinous ligament calcification (in some patients)

Skeletal Hands:
hands, vascular and periarticular calcification of
fingers, periarticular joint capsule calcification of
metacarpophalangeal calcification

Clinical features from OMIM:

211800

MGI Mouse Phenotypes related to Calcification of Joints and Arteries:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.11 ABCC6 ADIPOQ ALPL ANKH ENPP1 GGCX
2 growth/size/body region MP:0005378 10.07 ABCC6 ADIPOQ ALPL ANKH ENPP1 GGCX
3 cellular MP:0005384 9.98 ADIPOQ ALPL ANKH ENPP1 MGP SLC20A1
4 homeostasis/metabolism MP:0005376 9.96 ABCC6 ADIPOQ ALPL ANKH ENPP1 GGCX
5 hematopoietic system MP:0005397 9.87 ADIPOQ ALPL ANKH GGCX NT5E SLC20A1
6 craniofacial MP:0005382 9.8 ABCC6 ALPL ANKH ENPP1 NT5E
7 muscle MP:0005369 9.63 ADIPOQ ALPL ANKH ENPP1 MGP SMS
8 renal/urinary system MP:0005367 9.35 ABCC6 ADIPOQ ENPP1 MGP NT5E
9 skeleton MP:0005390 9.23 ADIPOQ ALPL ANKH ENPP1 GGCX MGP

Drugs & Therapeutics for Calcification of Joints and Arteries

Drugs for Calcification of Joints and Arteries (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 22)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Moxifloxacin Approved, Investigational Phase 3 354812-41-2, 151096-09-2 152946
2 Anti-Infective Agents Phase 3
3 Anti-Bacterial Agents Phase 3
4 Antibiotics, Antitubercular Phase 3
5 Norgestimate, ethinyl estradiol drug combination Phase 3
6
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865
7
Lenograstim Approved, Investigational Phase 2 135968-09-1
8
Leuprolide Approved, Investigational Phase 2 53714-56-0 657181 3911
9
Etidronic acid Approved Phase 2 2809-21-4, 7414-83-7 3305
10 Cytochrome P-450 Enzyme Inhibitors Phase 2
11 Hormones Phase 2
12 Antineoplastic Agents, Hormonal Phase 2
13 Hormone Antagonists Phase 2
14 glucocorticoids Phase 2
15 Androgen Antagonists Phase 2
16
Abiraterone acetate Phase 2 154229-18-2 57336518
17 Androgens Phase 2
18 Anti-Inflammatory Agents Phase 2
19 Diphosphonates Phase 2
20 Vaccines Phase 2
21 Interleukin-2 Phase 2
22 Anesthetics

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Acute Cholecystitis - Early Laparoscopic Surgery Versus Antibiotic Therapy and Delayed Elective Cholecystectomy = ACDC-study Completed NCT00447304 Phase 3 moxifloxacin
2 Anti-Androgens and Cabazitaxel in Defining Complete Response in Prostatectomy (ACDC-RP Trial): A Randomized, Open-label, Multi-centre Phase-2 Study Evaluating the Pathological Complete Response (pCR) Rate Following Neoadjuvant Therapy in Participants With High-risk Prostate Carcinoma for Whom Radical Prostatectomy is Indicated Recruiting NCT02543255 Phase 2 Abiraterone acetate with prednisone;Leuprolide;Cabazitaxel with peg-filgrastim
3 An Open-label, Non-Randomized, Single-Arm Pilot Study to Evaluate the Effectiveness of Etidronate Treatment for Arterial Calcifications Due to Deficiency in CD73 (ACDC) Active, not recruiting NCT01585402 Phase 2 Etidronate
4 Complementary Vaccination With Dendritic Cells Pulsed With Autologous Tumor Lysate in Resected Stage III and IV Melanoma Patients: a Phase II Randomized Trial (ACDC Adjuvant Trial) Terminated NCT02718391 Phase 2
5 Diagnosis and Treatment of Patients With Inborn Errors of Metabolism or Other Genetic Disorders Recruiting NCT00369421
6 Alteration of Blood-Brain-Barrier Permeability at Loss of Consciousness in Delirious Patients Recorded With Direct-Current Electroencephalography (ACDC) Recruiting NCT04320082
7 Mind Power - A CBT Based Program for Adolescents Aimed at Developing Coping Skills Enrolling by invitation NCT03647826

Search NIH Clinical Center for Calcification of Joints and Arteries

Genetic Tests for Calcification of Joints and Arteries

Genetic tests related to Calcification of Joints and Arteries:

# Genetic test Affiliating Genes
1 Calcification of Joints and Arteries 29 NT5E

Anatomical Context for Calcification of Joints and Arteries

MalaCards organs/tissues related to Calcification of Joints and Arteries:

40
Brain, Prostate

Publications for Calcification of Joints and Arteries

Articles related to Calcification of Joints and Arteries:

# Title Authors PMID Year
1
NT5E mutations and arterial calcifications. 6 56
21288095 2011
2
Heredo-familial vascular and articular calcification. 56
13149051 1954
3
NT5E Genetic Mutation Is a Rare But Important Cause of Intermittent Claudication and Chronic Limb-Threatening Ischemia. 61
32522903 2020
4
Calcification of joints and arteries with novel NT5E mutations with involvement of upper extremity arteries. 61
28825389 2017
5
Calcification of joints and arteries: second report with novel NT5E mutations and expansion of the phenotype. 61
26178434 2015
6
Genetics in arterial calcification: lessons learned from rare diseases. 61
23122642 2012

Variations for Calcification of Joints and Arteries

ClinVar genetic disease variations for Calcification of Joints and Arteries:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NT5E NM_002526.4(NT5E):c.662C>A (p.Ser221Ter)SNV Pathogenic 29687 rs373328681 6:86181054-86181054 6:85471336-85471336
2 NT5E NM_002526.4(NT5E):c.1073G>A (p.Cys358Tyr)SNV Pathogenic 29688 rs387906620 6:86197176-86197176 6:85487458-85487458
3 NT5E NM_002526.4(NT5E):c.1608dup (p.Val537fs)duplication Pathogenic 29689 rs774200574 6:86203602-86203603 6:85493884-85493885

UniProtKB/Swiss-Prot genetic disease variations for Calcification of Joints and Arteries:

73
# Symbol AA change Variation ID SNP ID
1 NT5E p.Cys358Tyr VAR_065185 rs387906620

Expression for Calcification of Joints and Arteries

Search GEO for disease gene expression data for Calcification of Joints and Arteries.

Pathways for Calcification of Joints and Arteries

Pathways related to Calcification of Joints and Arteries according to KEGG:

36
# Name Kegg Source Accession
1 Purine metabolism hsa00230
2 Pyrimidine metabolism hsa00240
3 Nicotinate and nicotinamide metabolism hsa00760
4 Metabolic pathways hsa01100

Pathways related to Calcification of Joints and Arteries according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.75 SLC20A1 ENPP1 ADIPOQ ABCC6
2
Show member pathways
11.56 NT5E ENPP1 ALPL
3 10.61 MGP ENPP1 ALPL
4 10.58 MGP ALPL
5 10.33 MGP GGCX

GO Terms for Calcification of Joints and Arteries

Biological processes related to Calcification of Joints and Arteries according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of fat cell differentiation GO:0045599 9.46 ENPP1 ADIPOQ
2 generation of precursor metabolites and energy GO:0006091 9.43 ENPP1 ADIPOQ
3 phosphate-containing compound metabolic process GO:0006796 9.4 SLC20A1 ENPP1
4 phosphate ion transmembrane transport GO:0035435 9.37 SLC20A1 ANKH
5 negative regulation of protein autophosphorylation GO:0031953 9.32 ENPP1 ADIPOQ
6 phosphate ion transport GO:0006817 9.26 SLC20A1 ANKH
7 inorganic diphosphate transport GO:0030505 9.16 ENPP1 ANKH
8 biomineral tissue development GO:0031214 9.13 SLC20A1 ENPP1 ALPL
9 regulation of bone mineralization GO:0030500 8.8 MGP ENPP1 ANKH

Molecular functions related to Calcification of Joints and Arteries according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 inorganic phosphate transmembrane transporter activity GO:0005315 8.62 SLC20A1 ANKH

Sources for Calcification of Joints and Arteries

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
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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