MCID: CLC001
MIFTS: 53

Calciphylaxis

Categories: Rare diseases, Cardiovascular diseases, Bone diseases, Metabolic diseases

Aliases & Classifications for Calciphylaxis

MalaCards integrated aliases for Calciphylaxis:

Name: Calciphylaxis 12 72 49 55 41 14 69
Idiopathic Calciphylaxis 49

Characteristics:

Orphanet epidemiological data:

55
calciphylaxis
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Adult; Age of death: adult;

Classifications:



External Ids:

Disease Ontology 12 DOID:4734
MeSH 41 D002115
NCIt 46 C84607
SNOMED-CT 64 237900002
Orphanet 55 ORPHA280062
UMLS via Orphanet 70 C0006666
ICD10 via Orphanet 33 E83.5
UMLS 69 C0006666

Summaries for Calciphylaxis

NIH Rare Diseases : 49 Calciphylaxis is a disease in which blood vessels (veins and arteries) become blocked by a build-up of calcium in the walls of the vessels, preventing blood from flowing to the skin or internal organs.  The lack of blood flow (ischemia) damages healthy tissue and causes it to die (necrosis).  The most obvious and frequent symptom of calciphylaxis is damage to the skin, as ulcers can develop and become infected easily.  Calciphylaxis can also affect fat tissue, internal organs, and skeletal muscle, causing infections, pain, and organ failure.  These symptoms are often irreversible, and many individuals with calciphylaxis may not survive more than a few months after they are diagnosed due to infection that spreads throughout the body (sepsis), or organ failure.  The exact cause of calciphylaxis is unknown.  Treatments may include medications to reduce pain, antibiotics to treat infections, and various approaches to preventing the development or worsening of this condition. Last updated: 2/7/2012

MalaCards based summary : Calciphylaxis, also known as idiopathic calciphylaxis, is related to osteitis fibrosa and hyperparathyroidism, and has symptoms including secondary hyperparathyroidism, cutis marmorata and hyperphosphatemia. An important gene associated with Calciphylaxis is ALB (Albumin), and among its related pathways/superpathways are Ca, cAMP and Lipid Signaling and Transcription_Role of VDR in regulation of genes involved in osteoporosis. The drugs Anti-Bacterial Agents and Antidotes have been mentioned in the context of this disorder. Affiliated tissues include skin, kidney and skeletal muscle, and related phenotypes are Decreased melanin production and cardiovascular system

Wikipedia : 72 Calciphylaxis, or calcific uremic arteriolopathy (CUA), is a syndrome of calcification of the blood... more...

Related Diseases for Calciphylaxis

Diseases related to Calciphylaxis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 134)
# Related Disease Score Top Affiliating Genes
1 osteitis fibrosa 29.6 CASR PTH
2 hyperparathyroidism 29.6 CASR FGF23 PTH VDR
3 kidney disease 29.5 ALB CASR FGF23 PTH
4 end stage renal failure 29.1 ALB FN1 PTH
5 hypercalcemia, infantile, 1 29.0 CASR PTH VDR
6 chronic kidney failure 28.8 ALB CASR FGF23 PTH VDR
7 secondary hyperparathyroidism of renal origin 28.8 ALB CASR FGF23 PTH VDR
8 primary hyperparathyroidism 28.6 ALB CASR FGF23 PTH VDR
9 hyperphosphatemia 28.5 CASR FGF23 PTH VDR
10 calciphylaxis cutis 12.0
11 visceral calciphylaxis 11.9
12 sialolithiasis 10.2 ALB CASR
13 hypocalciuric hypercalcemia, familial, type ii 10.2 CASR PTH
14 familial hypocalciuric hypercalcemia 10.2 CASR PTH
15 hypervitaminosis d 10.1 FGF23 PTH
16 oncogenic osteomalacia 10.1 FGF23 PTH
17 impaired renal function disease 10.1 FGF23 PTH
18 peritonitis 10.1
19 fanconi syndrome 10.1 ALB PTH
20 pulmonary alveolar microlithiasis 10.1 FGF23 PTH
21 arterial calcification of infancy 10.1 FGF23 NT5E
22 hypercalciuria, absorptive, 2 10.1 CASR VDR
23 episodic pain syndrome, familial, 1 10.1
24 metaphyseal chondrodysplasia, jansen type 10.1 FGF23 PTH
25 systemic lupus erythematosus 10.1
26 lupus erythematosus 10.1
27 hypocalcemia, autosomal dominant 1 10.1 CASR VDR
28 parathyroid carcinoma 10.1 CASR PTH
29 poems syndrome 10.0
30 xanthinuria, type i 10.0 CASR VDR
31 hypophosphatemic rickets, x-linked recessive 10.0 FGF23 VDR
32 arthritis 10.0
33 idiopathic hypercalciuria 10.0 CASR VDR
34 hypophosphatemic rickets with hypercalciuria, hereditary 10.0 FGF23 PTH
35 rheumatoid arthritis 10.0
36 arterial calcification, generalized, of infancy, 1 10.0
37 calcinosis 10.0
38 spondylosis 10.0 PTH VDR
39 nephrolithiasis, calcium oxalate 10.0 CASR VDR
40 non-secretory myeloma 10.0 ALB FN1
41 pseudoxanthoma elasticum 9.9
42 protein s deficiency 9.9
43 salmonellosis 9.9 ALB VDR
44 hypophosphatemia 9.9 FGF23 PTH
45 arcus corneae 9.9 ALB FN1
46 parathyroid adenoma 9.9 CASR PTH
47 temporal arteritis 9.9
48 vasculitis 9.9
49 urinary system disease 9.9 ALB FGF23 PTH
50 hypoparathyroidism 9.9 CASR FGF23 PTH

Graphical network of the top 20 diseases related to Calciphylaxis:



Diseases related to Calciphylaxis

Symptoms & Phenotypes for Calciphylaxis

Human phenotypes related to Calciphylaxis:

55 31 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 secondary hyperparathyroidism 55 31 hallmark (90%) Very frequent (99-80%) HP:0000867
2 cutis marmorata 55 31 hallmark (90%) Very frequent (99-80%) HP:0000965
3 hyperphosphatemia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002905
4 arterial calcification 55 31 hallmark (90%) Very frequent (99-80%) HP:0003207
5 stage 5 chronic kidney disease 55 31 hallmark (90%) Very frequent (99-80%) HP:0003774
6 abnormality of skin physiology 55 31 hallmark (90%) Very frequent (99-80%) HP:0011122
7 ectopic ossification 55 31 hallmark (90%) Very frequent (99-80%) HP:0011986
8 cellulitis 55 31 hallmark (90%) Very frequent (99-80%) HP:0100658
9 gangrene 55 31 hallmark (90%) Very frequent (99-80%) HP:0100758
10 sepsis 55 31 hallmark (90%) Very frequent (99-80%) HP:0100806
11 skin ulcer 55 31 hallmark (90%) Very frequent (99-80%) HP:0200042
12 abnormality of metabolism/homeostasis 55 Very frequent (99-80%)

GenomeRNAi Phenotypes related to Calciphylaxis according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased melanin production GR00056-A 8.62 FGF23 NT5E

MGI Mouse Phenotypes related to Calciphylaxis:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.83 NT5E PTH VDR FGF23 FN1
2 hematopoietic system MP:0005397 9.8 NT5E PTH CASR VDR FGF23 FN1
3 homeostasis/metabolism MP:0005376 9.8 PTH ALB CASR VDR FGF23 FN1
4 endocrine/exocrine gland MP:0005379 9.77 ALB PTH CASR VDR FGF23
5 digestive/alimentary MP:0005381 9.71 ALB CASR VDR FGF23
6 limbs/digits/tail MP:0005371 9.46 PTH VDR FGF23 FN1
7 renal/urinary system MP:0005367 9.35 ALB CASR VDR FGF23 NT5E
8 skeleton MP:0005390 9.02 PTH CASR VDR FGF23 FN1

Drugs & Therapeutics for Calciphylaxis

Drugs for Calciphylaxis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 28)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Anti-Bacterial Agents Phase 3,Phase 2
2 Antidotes Phase 3,Phase 2
3 Anti-Infective Agents Phase 3,Phase 2
4 Antioxidants Phase 3,Phase 2
5 Antitubercular Agents Phase 3,Phase 2
6 Calcium, Dietary Phase 3,Phase 2
7 Chelating Agents Phase 3,Phase 2
8 Pharmaceutical Solutions Phase 3,Phase 2
9 Protective Agents Phase 3,Phase 2
10 sodium thiosulfate Phase 3,Phase 2
11
Calcium Carbonate Approved, Investigational Phase 2 471-34-1
12 Antacids Phase 2
13 Anti-Ulcer Agents Phase 2
14 Bone Density Conservation Agents Phase 2
15 Gastrointestinal Agents Phase 2
16
Warfarin Approved 81-81-2 54678486 6691
17
Menadione Approved, Nutraceutical 58-27-5 4055
18
Phytonadione Approved, Investigational, Nutraceutical 84-80-0 5284607 4812
19 Antifibrinolytic Agents
20 Coagulants
21 Hemostatics
22 Micronutrients
23 Trace Elements
24 Vitamin K 1
25 Vitamins
26 Menaquinone Nutraceutical
27 naphthoquinone Nutraceutical
28 Vitamin K Nutraceutical

Interventional clinical trials:

(show all 15)

# Name Status NCT ID Phase Drugs
1 A Phase 3 Clinical Trial of Intravenous Sodium Thiosulfate in Acute Calciphylaxis Patients Recruiting NCT03150420 Phase 3 Sodium Thiosulfate;Placebo-Normal Saline
2 Randomized Double Blind Placebo Controlled Trial of Sodium Thiosulfate for the Treatment of Pain Associated With Calcific Uremic Arteriolopath Terminated NCT02527213 Phase 3 Sodium thiosulfate;Placebo
3 Phase 2 Study With SNF472 in Calciphylaxis Patients Completed NCT02790073 Phase 2 SNF472
4 Efficacy and Tolerance of Sodium Thiosulfate Injection After Ultrasound-guided Percutaneous Irrigation of Calcific Tendinopathy of the Rotator Cuff Completed NCT02538939 Phase 2 Sodium thiosulfate
5 Topical Sodium Thiosulfate and Fractional Carbon Dioxide Laser in Treating Dermatomyositis Associated Calcinosis Completed NCT01572844 Phase 2 Sodium thiosulfate
6 Two phosphAte taRGets in End-stage Renal Disease Trial (TARGET) Completed NCT01994733 Phase 2 Calcium carbonate ( Intensive phosphate control);Calcium carbonate (Liberalized phosphate control)
7 A Pilot Study to Evaluate Topical Sodium Thiosulfate Therapy for Calcinosis Cutis Withdrawn NCT01918904 Phase 2 Sodium thiosulfate;Placebo
8 Efficacy of Lanthanum Carbonate in Calciphylaxis Completed NCT01289626 Phase 1 lanthanum carbonate;Lanthanum for calciphylaxis
9 Observational Follow-up to ST-001 Calciphylaxis Pain Treatment With Intravenous Sodium Thiosulfate Recruiting NCT03319914
10 Partners Calciphylaxis Biobank Recruiting NCT03032835
11 European Calciphylaxis Registry Network Recruiting NCT02635373
12 Pathophysiology of Martorell Hypertensive Ischemic Leg Ulcer (HYTILU) Recruiting NCT01578382
13 The Early Administration of Sodium Thiosulfate Should Help to Reduce the Mortality of Dialysis Patients With Calciphylaxis, From a National Cohort Recruiting NCT03146793 Sodium Thiosulfate
14 Evaluation of Vitamin K Supplementation for Calcific Uremic Arteriolopathy Recruiting NCT02278692
15 Calciphylaxis : Population, Risk Factors, Diagnostic Practice, Therapeutic and Outcome Not yet recruiting NCT02854046

Search NIH Clinical Center for Calciphylaxis

Cochrane evidence based reviews: calciphylaxis

Genetic Tests for Calciphylaxis

Anatomical Context for Calciphylaxis

MalaCards organs/tissues related to Calciphylaxis:

38
Skin, Kidney, Skeletal Muscle, Bone, Breast, Liver, Lung

Publications for Calciphylaxis

Articles related to Calciphylaxis:

(show top 50) (show all 639)
# Title Authors Year
1
Anterior Ischemic Optic Neuropathy Due to Calciphylaxis. ( 29016409 )
2018
2
Calciphylaxis as cutaneous marker of hyperparathyroidism and successful outcome with parathyroidectomy followed by hyperbaric oxygen therapy. ( 29451194 )
2018
3
Pancreatitis associated with calciphylaxis successfully treated with sodium thiosulfate. ( 29387772 )
2018
4
Non Uremic Calciphylaxis Post Liver Transplantation: A Case Report and Literature Review of an Unusual Presentation of a Rare Disease. ( 29386500 )
2018
5
Evaluating the validity of subclassifying warfarin-associated nonuremic calciphylaxis: a retrospective cohort study. ( 29336027 )
2018
6
3DTEE imaging of a descending aorta floating thrombus in a patient with calciphylaxis. ( 29226430 )
2018
7
Rheopheresis for Adjuvant Treatment in Resistant Calciphylaxis. ( 29430867 )
2018
8
Calciphylaxis with pseudoxanthoma elasticum-like changes: A case series. ( 29086985 )
2018
9
Association Between Hypercoagulable Conditions and Calciphylaxis in Patients With Renal Disease: A Case-Control Study. ( 29238798 )
2018
10
Histopathology of Calciphylaxis: Cohort Study With Clinical Correlations. ( 29053546 )
2017
11
The Signs Aligned: Nonuremic Calciphylaxis. ( 28601542 )
2017
12
Rare Case of Hematemesis: Calciphylaxis of the Esophagus. ( 28478301 )
2017
13
Calciphylaxis after parathyroidectomy. ( 29064176 )
2017
14
Calciphylaxis of the Postmenopausal Female Breast: An Uncommonly Encountered Mimic of Carcinoma. ( 28852578 )
2017
15
Calciphylaxis: Overview for the vascular nurse. ( 29153231 )
2017
16
Parathyroidectomy in Hyperparathyroidism-Associated Calciphylaxis in End-Stage Renal Disease Should be Prompt and Radical - a Case Report with Two Original Therapeutic Modifications and Successful Outcome. ( 28976876 )
2017
17
The Role of Bone Scintigraphy with Single-photon Emission Computed Tomography-computed Tomography in the Diagnosis and Evaluation of Calciphylaxis. ( 28553189 )
2017
18
Direct oral anticoagulant medications in calciphylaxis. ( 28856671 )
2017
19
Calciphylaxis in a nondialysis patient treated with sodium thiosulfate and high dose of oxygen. ( 29043146 )
2017
20
Clinical Assessment of Warfarin Therapy in Patients with Maintenance Dialysis-Clinical Efficacy, Risks and Development of Calciphylaxis. ( 29147170 )
2017
21
Calciphylaxis in the Setting of Alcoholic Cirrhosis: Case Report and Literature Review. ( 28589153 )
2017
22
Vitamin K-Dependent Carboxylation of Matrix Gla Protein Influences the Risk of Calciphylaxis. ( 28049648 )
2017
23
Early clinical presentations and progression of calciphylaxis. ( 28436018 )
2017
24
A systematic review of sodium thiosulfate in treating calciphylaxis in chronic kidney disease patients. ( 28603903 )
2017
25
Increased Bone Morphogenetic Protein Signaling in the Cutaneous Vasculature of Patients with Calciphylaxis. ( 29130990 )
2017
26
Calciphylaxis with extensive arterial calcification. ( 28781873 )
2017
27
Pseudoxanthoma elasticum-like changes in nonuremic calciphylaxis: Case series and brief review of a helpful diagnostic clue. ( 28869660 )
2017
28
Sodium Thiosulfate in the Treatment of Lung and Breast Calciphylaxis: CT and Bone Scintigraphy Findings. ( 28872557 )
2017
29
Gastric Pneumatosis from Isolated Gastric Calciphylaxis. ( 28761894 )
2017
30
Underreported use of palliative care and patient reported outcome measures to address reduced Quality of Life in calciphylaxis patients: A systematic review. ( 28580642 )
2017
31
Acenocoumarol as a risk factor for calciphylaxis: a feature clinicians should be aware of. ( 28522774 )
2017
32
A 33year-old woman with calciphylaxis, diabetic kidney disease and abdominal pain. ( 28506812 )
2017
33
Ecto-5' -Nucleotidase CD73 (NT5E), vitamin D receptor and FGF23 gene polymorphisms may play a role in the development of calcific uremic arteriolopathy in dialysis patients - Data from the German Calciphylaxis Registry. ( 28212442 )
2017
34
Calciphylaxis in hemodialysed patients: Diagnostic value of calcifications in cutaneous biopsy. ( 28498603 )
2017
35
Calciphylaxis: Another Piece of the Puzzle. ( 29130965 )
2017
36
Penile Calciphylaxis: The Use of Radiological Investigations in the Management of a Rare and Challenging Condition. ( 28507910 )
2017
37
Management of a Complex Peristomal Calciphylaxis: A Case Study. ( 28682855 )
2017
38
Cirrhosis Presenting as Cutaneous Calciphylaxis. ( 28529162 )
2017
39
Analysis of the German DRG data for livedoid vasculopathy and calciphylaxis. ( 28252815 )
2017
40
Calciphylaxis: Controversies in Pathogenesis, Diagnosis and Treatment. ( 26897281 )
2016
41
Multimodal treatment of calcific uraemic arteriolopathy (calciphylaxis): a case series. ( 26798470 )
2016
42
Warfarin-induced calciphylaxis in patients with normal renal function. ( 27321367 )
2016
43
Calciphylaxis: A Disease of Pannicular Thrombosis. ( 27712638 )
2016
44
Successful Management of Calciphylaxis in a Kidney Transplant Patient: Case Report. ( 27500261 )
2016
45
Resolution of Calciphylaxis After Urgent Kidney Transplantation in 3 Patients With End-Stage Kidney Failure. ( 27826606 )
2016
46
The Relationship Between Obesity and Calciphylaxis: A Review of the Literature. ( 26779700 )
2016
47
Calciphylaxis of the Breast: A Case Report and Literature Review. ( 27332900 )
2016
48
Sodium thiosulfate as a treatment for calciphylaxis: A case series. ( 27051974 )
2016
49
Multimodal Treatment of Calciphylaxis With Sodium Thiosulfate, Alprostadil, and Hyperbaric Oxygen Therapy. ( 27208908 )
2016
50
Case Report of Calciphylaxis Secondary to Calcium and Vitamin D3 Supplementation. ( 27566435 )
2016

Variations for Calciphylaxis

Expression for Calciphylaxis

Search GEO for disease gene expression data for Calciphylaxis.

Pathways for Calciphylaxis

GO Terms for Calciphylaxis

Cellular components related to Calciphylaxis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 platelet alpha granule lumen GO:0031093 8.96 ALB FN1
2 endoplasmic reticulum lumen GO:0005788 8.8 ALB FGF23 FN1

Biological processes related to Calciphylaxis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.58 CASR FN1 VDR
2 post-translational protein modification GO:0043687 9.54 ALB FGF23 FN1
3 cellular protein metabolic process GO:0044267 9.5 ALB FGF23 FN1
4 cellular calcium ion homeostasis GO:0006874 9.33 CASR PTH VDR
5 cellular response to vitamin D GO:0071305 9.26 CASR FGF23
6 response to fibroblast growth factor GO:0071774 8.96 CASR PTH
7 positive regulation of vitamin D 24-hydroxylase activity GO:0010980 8.62 FGF23 VDR

Molecular functions related to Calciphylaxis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chaperone binding GO:0051087 8.96 ALB FN1
2 drug binding GO:0008144 8.62 ALB CASR

Sources for Calciphylaxis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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