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Calcification of joints and arteries(CALJA)

MedGen UID:
347132
Concept ID:
C1859372
Disease or Syndrome
Synonyms: ARTERIAL CALCIFICATION DUE TO DEFICIENCY OF CD73; CALJA
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). [HPO:curators]
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
 
Gene (location): NT5E (6q14.3)
OMIM®: 211800
Orphanet: ORPHA289601

Definition

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). [from OMIM]

Clinical features

From HPO
Arterial calcification
MedGen UID:
223922
Concept ID:
C1168153
Pathologic Function
Pathological deposition of calcium salts in one or more arteries.
Ectopic ossification
MedGen UID:
18209
Concept ID:
C0029396
Pathologic Function
Formation of abnormal, extraskeletal bony tissue, i.e., the presence of bone in soft tissue where bone normally does not exist.
Abnormal joint morphology
MedGen UID:
893053
Concept ID:
C0240083
Finding
An abnormal structure or form of the joints, i.e., one or more of the articulations where two bones join.
Arterial calcification
MedGen UID:
223922
Concept ID:
C1168153
Pathologic Function
Pathological deposition of calcium salts in one or more arteries.
Abnormality of the vertebral column
MedGen UID:
892426
Concept ID:
C4021789
Anatomical Abnormality
Any abnormality of the vertebral column.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCalcification of joints and arteries
Follow this link to review classifications for Calcification of joints and arteries in Orphanet.

Recent clinical studies

Etiology

Lee D, Joo HJ, Jung HW, Lim DS
PLoS One 2018;13(9):e0203702. Epub 2018 Sep 18 doi: 10.1371/journal.pone.0203702. PMID: 30226851Free PMC Article
Malliaropoulos N, Thompson D, Meke M, Pyne D, Alaseirlis D, Atkinson H, Korakakis V, Lohrer H
BMC Musculoskelet Disord 2017 Dec 6;18(1):513. doi: 10.1186/s12891-017-1873-x. PMID: 29207984Free PMC Article
Saponjski J, Stojanovich L, Petrovic J, Saponjski D
Immunol Res 2017 Apr;65(2):482-486. doi: 10.1007/s12026-016-8887-6. PMID: 28124228
Bishu K, Armstrong EJ
Vasc Health Risk Manag 2015;11:387-95. Epub 2015 Jul 13 doi: 10.2147/VHRM.S70229. PMID: 26203255Free PMC Article
Sekar B, Payne M, Hanna A, Azzu A, Pike M, Rees M
Biomed Res Int 2015;2015:582590. Epub 2015 Feb 5 doi: 10.1155/2015/582590. PMID: 25722981Free PMC Article

Diagnosis

Lee D, Joo HJ, Jung HW, Lim DS
PLoS One 2018;13(9):e0203702. Epub 2018 Sep 18 doi: 10.1371/journal.pone.0203702. PMID: 30226851Free PMC Article
Malliaropoulos N, Thompson D, Meke M, Pyne D, Alaseirlis D, Atkinson H, Korakakis V, Lohrer H
BMC Musculoskelet Disord 2017 Dec 6;18(1):513. doi: 10.1186/s12891-017-1873-x. PMID: 29207984Free PMC Article
Suyama Y, Shirakawa T, Hagiwara K
Emerg Med J 2017 Jun;34(6):397. doi: 10.1136/emermed-2016-206384. PMID: 28539370
Saponjski J, Stojanovich L, Petrovic J, Saponjski D
Immunol Res 2017 Apr;65(2):482-486. doi: 10.1007/s12026-016-8887-6. PMID: 28124228
Zhang Z, He JW, Fu WZ, Zhang CQ, Zhang ZL
J Hum Genet 2015 Oct;60(10):561-4. Epub 2015 Jul 16 doi: 10.1038/jhg.2015.85. PMID: 26178434

Therapy

Lee D, Joo HJ, Jung HW, Lim DS
PLoS One 2018;13(9):e0203702. Epub 2018 Sep 18 doi: 10.1371/journal.pone.0203702. PMID: 30226851Free PMC Article
Malliaropoulos N, Thompson D, Meke M, Pyne D, Alaseirlis D, Atkinson H, Korakakis V, Lohrer H
BMC Musculoskelet Disord 2017 Dec 6;18(1):513. doi: 10.1186/s12891-017-1873-x. PMID: 29207984Free PMC Article
Suyama Y, Shirakawa T, Hagiwara K
Emerg Med J 2017 Jun;34(6):397. doi: 10.1136/emermed-2016-206384. PMID: 28539370
Bishu K, Armstrong EJ
Vasc Health Risk Manag 2015;11:387-95. Epub 2015 Jul 13 doi: 10.2147/VHRM.S70229. PMID: 26203255Free PMC Article
Zhang Z, He JW, Fu WZ, Zhang CQ, Zhang ZL
J Hum Genet 2015 Oct;60(10):561-4. Epub 2015 Jul 16 doi: 10.1038/jhg.2015.85. PMID: 26178434

Prognosis

Chistiakov DA, Myasoedova VA, Melnichenko AA, Grechko AV, Orekhov AN
Biomed Res Int 2017;2017:7463590. Epub 2017 Nov 7 doi: 10.1155/2017/7463590. PMID: 29238720Free PMC Article
Saponjski J, Stojanovich L, Petrovic J, Saponjski D
Immunol Res 2017 Apr;65(2):482-486. doi: 10.1007/s12026-016-8887-6. PMID: 28124228
Bishu K, Armstrong EJ
Vasc Health Risk Manag 2015;11:387-95. Epub 2015 Jul 13 doi: 10.2147/VHRM.S70229. PMID: 26203255Free PMC Article

Clinical prediction guides

Lee D, Joo HJ, Jung HW, Lim DS
PLoS One 2018;13(9):e0203702. Epub 2018 Sep 18 doi: 10.1371/journal.pone.0203702. PMID: 30226851Free PMC Article
Chistiakov DA, Myasoedova VA, Melnichenko AA, Grechko AV, Orekhov AN
Biomed Res Int 2017;2017:7463590. Epub 2017 Nov 7 doi: 10.1155/2017/7463590. PMID: 29238720Free PMC Article
Malliaropoulos N, Thompson D, Meke M, Pyne D, Alaseirlis D, Atkinson H, Korakakis V, Lohrer H
BMC Musculoskelet Disord 2017 Dec 6;18(1):513. doi: 10.1186/s12891-017-1873-x. PMID: 29207984Free PMC Article
Sekar B, Payne M, Hanna A, Azzu A, Pike M, Rees M
Biomed Res Int 2015;2015:582590. Epub 2015 Feb 5 doi: 10.1155/2015/582590. PMID: 25722981Free PMC Article

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