CALJA
MCID: CLC017
MIFTS: 25

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 58 60 76 38 30 13 6 41 74
Calja 58 60 76
Arterial Calcification Due to Deficiency of Cd73 58 54
Acdc 58 54
Hereditary Arterial and Articular Multiple Calcification Syndrome 60
Arterial Calcification Due to Deficiency of Cd73; Acdc 58
Arterial Calcification and Distal Joint Calcification 54
Arterial Calcification Due to Cd73 Deficiency 54
Calcification of Joints and Arteries; Calja 54

Characteristics:

Orphanet epidemiological data:

60
hereditary arterial and articular multiple calcification syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
calcification of joints and arteries:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 211800
KEGG 38 H00824
MeSH 45 D002114
Orphanet 60 ORPHA289601
MedGen 43 C1859372
UMLS 74 C1859372

Summaries for Calcification of Joints and Arteries

NIH Rare Diseases : 54 Arterial calcification due to deficiency of CD73, 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 morbid obesity. 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. Related phenotypes are arterial occlusion and decreased serum creatinine

OMIM : 58 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)

UniProtKB/Swiss-Prot : 76 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.

Related Diseases for Calcification of Joints and Arteries

Diseases related to Calcification of Joints and Arteries via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cholecystitis 10.3
2 morbid obesity 10.2
3 diabetes mellitus, noninsulin-dependent 10.0
4 diabetes mellitus 10.0
5 melanoma 10.0
6 ischemia 10.0
7 pulmonary embolism 10.0
8 depression 10.0

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:

60 33 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 arterial occlusion 60 33 hallmark (90%) Very frequent (99-80%) HP:0025324
2 decreased serum creatinine 60 33 frequent (33%) Frequent (79-30%) HP:0012101
3 coronary artery calcification 60 33 occasional (7.5%) Occasional (29-5%) HP:0001717
4 arterial tortuosity 60 33 occasional (7.5%) Occasional (29-5%) HP:0005116
5 abnormality of cardiovascular system physiology 60 Very frequent (99-80%)
6 abnormality of the vertebral column 33 HP:0000925
7 abnormal joint morphology 33 HP:0001367
8 arterial calcification 33 HP:0003207
9 ectopic ossification 33 HP:0011986
10 large artery calcification 60 Very frequent (99-80%)
11 abnormal vascular morphology 60 Very frequent (99-80%)
12 periarticular calcification 33 HP:0025477

Symptoms via clinical synopsis from OMIM:

58
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

Drugs & Therapeutics for Calcification of Joints and Arteries

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Diagnosis and Treatment of Patients With Inborn Errors of Metabolism Recruiting NCT00369421

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 30 NT5E

Anatomical Context for Calcification of Joints and Arteries

Publications for Calcification of Joints and Arteries

Articles related to Calcification of Joints and Arteries:

# Title Authors Year
1
Calcification of joints and arteries with novel NT5E mutations with involvement of upper extremity arteries. ( 28825389 )
2017
2
Calcification of joints and arteries: second report with novel NT5E mutations and expansion of the phenotype. ( 26178434 )
2015

Variations for Calcification of Joints and Arteries

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

76
# Symbol AA change Variation ID SNP ID
1 NT5E p.Cys358Tyr VAR_065185 rs387906620

ClinVar genetic disease variations for Calcification of Joints and Arteries:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NT5E NM_002526.3(NT5E): c.662C> A (p.Ser221Ter) single nucleotide variant Pathogenic rs373328681 GRCh37 Chromosome 6, 86181054: 86181054
2 NT5E NM_002526.3(NT5E): c.662C> A (p.Ser221Ter) single nucleotide variant Pathogenic rs373328681 GRCh38 Chromosome 6, 85471336: 85471336
3 NT5E NM_002526.3(NT5E): c.1073G> A (p.Cys358Tyr) single nucleotide variant Pathogenic rs387906620 GRCh37 Chromosome 6, 86197176: 86197176
4 NT5E NM_002526.3(NT5E): c.1073G> A (p.Cys358Tyr) single nucleotide variant Pathogenic rs387906620 GRCh38 Chromosome 6, 85487458: 85487458
5 NT5E NM_002526.3(NT5E): c.1608dup (p.Val537Serfs) duplication Pathogenic GRCh37 Chromosome 6, 86203605: 86203605
6 NT5E NM_002526.3(NT5E): c.1608dup (p.Val537Serfs) duplication Pathogenic GRCh38 Chromosome 6, 85493887: 85493887

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:

38
# Name Kegg Source Accession
1 Purine metabolism hsa00230
2 Pyrimidine metabolism hsa00240
3 Nicotinate and nicotinamide metabolism hsa00760
4 Metabolic pathways hsa01100

GO Terms for Calcification of Joints and Arteries

Sources for Calcification of Joints and Arteries

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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