MCID: PHS001
MIFTS: 40

Phosphorus Metabolism Disease

Categories: Metabolic diseases

Aliases & Classifications for Phosphorus Metabolism Disease

MalaCards integrated aliases for Phosphorus Metabolism Disease:

Name: Phosphorus Metabolism Disease 12 15
Phosphorus Metabolism Disorders 44 70
Disorder of Phosphorus Metabolism 12
Phosphorus Metabolism Disorder 12
Phosphorus Disorder 12

Classifications:



External Ids:

Disease Ontology 12 DOID:2485
ICD9CM 34 275.3
MeSH 44 D010760
NCIt 50 C97095
SNOMED-CT 67 190858002
UMLS 70 C0031707

Summaries for Phosphorus Metabolism Disease

MalaCards based summary : Phosphorus Metabolism Disease, also known as phosphorus metabolism disorders, is related to hyperphosphatemia and hypophosphatemia. An important gene associated with Phosphorus Metabolism Disease is FGF23 (Fibroblast Growth Factor 23), and among its related pathways/superpathways are Endochondral Ossification and Mineral absorption. The drugs Sodium citrate and Citric acid have been mentioned in the context of this disorder. Affiliated tissues include bone, kidney and colon, and related phenotypes are Decreased viability and Decreased viability

Related Diseases for Phosphorus Metabolism Disease

Diseases related to Phosphorus Metabolism Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 118)
# Related Disease Score Top Affiliating Genes
1 hyperphosphatemia 30.9 VDR SLC34A1 PTH PHEX MGP KL
2 hypophosphatemia 30.6 VDR SLC34A3 SLC34A1 PTH PHEX MEPE
3 hyperparathyroidism 29.5 VDR PTH PHEX KL FGF23 CYP27B1
4 secondary hyperparathyroidism 29.2 VDR PTH PHEX KL FGF23 CYP27B1
5 opsismodysplasia 10.4 PHEX FGF23
6 microcephaly and chorioretinopathy 1 10.4 FGF23 FAM20C
7 hereditary hypophosphatemic rickets 10.4 SLC34A3 SLC34A1
8 ankylosing spondylitis 1 10.4 FGF23 ALB
9 gorham's disease 10.4 PTH GALNT3
10 blount's disease 10.4 SLC34A3 FGF23 EMP1
11 raine syndrome 10.3 FGF23 FAM20C
12 hypocalciuric hypercalcemia, familial, type i 10.3 PTH CASR
13 hypocalciuric hypercalcemia, familial, type ii 10.3 PTH CASR
14 skin atrophy 10.3 KL FGF23 CYP27B1
15 hypocalciuric hypercalcemia, familial, type iii 10.3 PTH CASR
16 fanconi renotubular syndrome 2 10.3 SLC34A3 SLC34A1 PHEX
17 hepatocellular clear cell carcinoma 10.3 VDR KL FGF23
18 spondylosis 10.3 VDR PTH KL
19 hypercalciuria, absorptive, 2 10.3 VDR SLC34A3 CASR
20 vitamin d-dependent rickets, type 2a 10.3 VDR PHEX CYP27B1
21 oncogenic osteomalacia 10.3 PTH PHEX MEPE FGF23
22 osteogenesis imperfecta, type vi 10.3 PHEX MEPE
23 familial tumoral calcinosis 10.3 PHEX KL GALNT3 FGF23
24 hyperostosis 10.3 KL GALNT3 FGF23
25 familial hypocalciuric hypercalcemia 10.3 VDR PTH CASR
26 dent disease 1 10.3 SLC34A3 SLC34A1 CASR
27 conjunctival deposit 10.3 KL GALNT3 FGF23 EMP1
28 metal metabolism disorder 10.3 PTH CASR ALB
29 hypophosphatasia, adult 10.3 PTH ENPP1
30 idiopathic infantile hypercalcemia 10.3 SLC34A1 CYP24A1
31 chondrodysplasia, blomstrand type 10.3 PTH CASR BGLAP
32 suppurative thyroiditis 10.3 PTH EMP1
33 malignant choroid melanoma 10.3 CYP27B1 CYP24A1
34 pseudohypoparathyroidism, type ib 10.3 SLC34A3 PTH BGLAP
35 hypophosphatasia, childhood 10.2 SLC20A2 PTH ENPP1
36 glucocorticoid-induced osteoporosis 10.2 VDR PTH BGLAP
37 dental pulp necrosis 10.2 MEPE BGLAP
38 van buchem disease 10.2 VDR PTH BGLAP
39 bartter disease 10.2 SLC34A3 SLC34A1 PTH CASR
40 mccune-albright syndrome 10.2 SLC34A1 FGF23 BGLAP
41 sclerosteosis 10.2 VDR PTH BGLAP
42 osteitis fibrosa 10.2 PTH FGF23 CASR BGLAP
43 colon sarcoma 10.2 VDR CYP27B1 CYP24A1
44 osseous heteroplasia, progressive 10.2 PTH ENPP1 BGLAP
45 leprosy 3 10.2 VDR CYP27B1 ALB
46 nephrolithiasis/osteoporosis, hypophosphatemic, 1 10.2 SLC34A3 SLC34A1 PTH KL FGF23
47 craniometaphyseal dysplasia, autosomal dominant 10.2 PHEX ENPP1 BGLAP
48 basal ganglia calcification 10.2 SLC20A2 PTH AHSG
49 osteoblastoma 10.2 MEPE FGF23 EMP1 BGLAP
50 osteogenesis imperfecta, type iii 10.2 SLC34A1 FAM20C BGLAP

Comorbidity relations with Phosphorus Metabolism Disease via Phenotypic Disease Network (PDN): (show all 14)


Active Peptic Ulcer Disease Acute Cystitis
Acute Kidney Failure Bronchitis
Chronic Kidney Disease Decubitus Ulcer
Deficiency Anemia Heart Disease
Hypertension, Essential Hypothyroidism
Iron Deficiency Anemia Protein-Energy Malnutrition
Respiratory Failure Schizophreniform Disorder

Graphical network of the top 20 diseases related to Phosphorus Metabolism Disease:



Diseases related to Phosphorus Metabolism Disease

Symptoms & Phenotypes for Phosphorus Metabolism Disease

GenomeRNAi Phenotypes related to Phosphorus Metabolism Disease according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00240-S-1 9.53 SLC34A3
2 Decreased viability GR00249-S 9.53 ALB CYP24A1 ENPP1
3 Decreased viability GR00381-A-1 9.53 FAM20C MGP SLC34A3
4 Decreased viability GR00381-A-2 9.53 MGP
5 Decreased viability GR00381-A-3 9.53 MGP
6 Decreased viability GR00386-A-1 9.53 ALB FAM20C KL SLC20A2 SLC34A3 VDR
7 Decreased viability GR00402-S-2 9.53 ENPP1

MGI Mouse Phenotypes related to Phosphorus Metabolism Disease:

46 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.41 AHSG ALB BGLAP CASR CYP24A1 CYP27B1
2 growth/size/body region MP:0005378 10.4 AHSG CASR CYP24A1 CYP27B1 ENPP1 FAM20C
3 cellular MP:0005384 10.33 ALB BGLAP CASR CYP27B1 ENPP1 FAM20C
4 endocrine/exocrine gland MP:0005379 10.29 ALB BGLAP CASR CYP27B1 FAM20C FGF23
5 cardiovascular system MP:0005385 10.26 ALB ENPP1 FGF23 GALNT3 KL MGP
6 immune system MP:0005387 10.25 ALB BGLAP CASR CYP27B1 ENPP1 FAM20C
7 craniofacial MP:0005382 10.24 CASR CYP27B1 ENPP1 FAM20C GALNT3 KL
8 hematopoietic system MP:0005397 10.23 BGLAP CASR CYP27B1 FAM20C FGF23 GALNT3
9 digestive/alimentary MP:0005381 10.18 ALB CASR FAM20C FGF23 GALNT3 KL
10 mortality/aging MP:0010768 10.13 ALB CASR CYP24A1 ENPP1 FAM20C FGF23
11 limbs/digits/tail MP:0005371 10.07 AHSG CYP27B1 ENPP1 FAM20C FGF23 GALNT3
12 hearing/vestibular/ear MP:0005377 10.02 AHSG ENPP1 FAM20C KL PHEX SLC20A2
13 renal/urinary system MP:0005367 10 ALB CASR CYP24A1 CYP27B1 ENPP1 FAM20C
14 muscle MP:0005369 9.91 AHSG ALB CASR ENPP1 GALNT3 KL
15 reproductive system MP:0005389 9.61 BGLAP CYP24A1 CYP27B1 FAM20C FGF23 GALNT3
16 skeleton MP:0005390 9.58 AHSG BGLAP CASR CYP24A1 CYP27B1 ENPP1

Drugs & Therapeutics for Phosphorus Metabolism Disease

Drugs for Phosphorus Metabolism Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sodium citrate Approved, Investigational Phase 4 68-04-2
2
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
3 Anticoagulants Phase 4
4 Ferric Compounds Phase 4
5 Citrate Phase 4
6 Chelating Agents Phase 4
7 Calcium, Dietary Phase 4
8
Calcium Nutraceutical Phase 4 7440-70-2 271
9
Vitamin D Approved, Nutraceutical, Vet_approved 1406-16-2
10 Calciferol
11 Vitamins

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Long-Term, Open-Label, Prospective Phase IV Study to Assess the Safety and Efficacy of Nephoxil® in Subjects With End Stage Renal Disease (ESRD) on Dialysis Completed NCT03256838 Phase 4 Ferric Citrate
2 Nutrition Risk Screening in Chronic Kidney Disease (CKD) From the National Health and Nutrition Examination Survey Completed NCT02435017

Search NIH Clinical Center for Phosphorus Metabolism Disease

Inferred drug relations via UMLS 70 / NDF-RT 51 :


sevelamer
sevelamer carbonate
sevelamer hydrochloride

Cochrane evidence based reviews: phosphorus metabolism disorders

Genetic Tests for Phosphorus Metabolism Disease

Anatomical Context for Phosphorus Metabolism Disease

MalaCards organs/tissues related to Phosphorus Metabolism Disease:

40
Bone, Kidney, Colon, Skin, Thyroid

Publications for Phosphorus Metabolism Disease

Articles related to Phosphorus Metabolism Disease:

(show all 20)
# Title Authors PMID Year
1
Influence of Socioeconomic Status on Incident Medical Conditions in Two-Year Survivors of Adolescent or Young Adult Differentiated Thyroid Cancer. 61
33512275 2021
2
Current and Emerging Drugs in the Treatment of Anemia in Patients with Chronic Kidney Disease. 61
32762831 2020
3
Impact of timing of initiation of dialysis on long-term prognosis of patients undergoing hemodialysis. 61
30116371 2018
4
Hypophosphatemic vitamin D-resistant osteomalacia: A case report. 61
24137267 2013
5
[Progress in diagnosis and therapy: Calcium-phosphorus metabolism disorders]. 61
17506299 2007
6
[Prevalence and quality of control of calcium and phosphorus metabolism disorders among Lithuanian hemodialysis patients in 2004 and 2005]. 61
17551278 2007
7
[News in the management of calcium and phosphorus metabolism disorders for patient treated by hemodialysis]. 61
16200940 2005
8
[phosphorus metabolism disorders and FGF-23]. 61
15227837 2004
9
[Pathophysiological study on water electrolyte imbalance--special reference to calcium-phosphorus metabolism disorders]. 61
12808895 2003
10
[Diagnosis of phosphorus metabolism disorders]. 61
10465963 1999
11
[Changes in bone and calcium-phosphorus metabolism disorders in hyper- and hypothyroidism]. 61
3774622 1986
12
[Treatment of calcium and phosphorus metabolism disorders with vitamin D metabolites. Preliminary results]. 61
6895421 1980
13
[Long-term dialysis and its problems: calcium and phosphorus metabolism disorders, aluminum balance, and esteodystrophy]. 61
6997567 1980
14
[Calcium and phosphorus metabolism disorders in Cushing's syndrome and Addison's disease]. 61
722893 1978
15
[Calcium-phosphorus metabolism disorders in highly productive cows and bulls and their diagnosis]. 61
929962 1977
16
[Calcium and phosphorus metabolism disorders in cardiovascular and skeletal pathology (on the basis of findings from the literature)]. 61
4664890 1972
17
[Prevention of calcium and phosphorus metabolism disorders in cows]. 61
5103463 1971
18
[The role of bile in phosphorus metabolism disorders in obstructive jaundice]. 61
5758473 1968
19
[CALCIUM AND PHOSPHORUS METABOLISM DISORDERS IN SECONDARY OSTEOLYTIC CANCER OF THE BONES]. 61
14252439 1964
20
[CALCIUM-PHOSPHORUS METABOLISM DISORDERS FOLLOWING GASTRECTOMY IN PEPTIC ULCER]. 61
14074714 1963

Variations for Phosphorus Metabolism Disease

Expression for Phosphorus Metabolism Disease

Search GEO for disease gene expression data for Phosphorus Metabolism Disease.

Pathways for Phosphorus Metabolism Disease

GO Terms for Phosphorus Metabolism Disease

Cellular components related to Phosphorus Metabolism Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.76 PTH KL FGF23 FAM20C ENPP1 BGLAP
2 extracellular region GO:0005576 9.65 PTH MGP MEPE KL FGF23 FAM20C
3 endoplasmic reticulum lumen GO:0005788 9.1 MEPE FGF23 FAM20C BGLAP ALB AHSG

Biological processes related to Phosphorus Metabolism Disease according to GeneCards Suite gene sharing:

(show all 32)
# Name GO ID Score Top Affiliating Genes
1 post-translational protein modification GO:0043687 10 MEPE FGF23 FAM20C ALB AHSG
2 cellular protein metabolic process GO:0044267 9.95 SLC34A1 MEPE FGF23 FAM20C ALB AHSG
3 ossification GO:0001503 9.89 SLC34A1 MGP CASR BGLAP AHSG
4 skeletal system development GO:0001501 9.88 VDR PTH PHEX MEPE BGLAP AHSG
5 cellular calcium ion homeostasis GO:0006874 9.83 VDR PTH CASR
6 sodium ion transmembrane transport GO:0035725 9.82 SLC34A3 SLC34A1 SLC20A2
7 fibroblast growth factor receptor signaling pathway GO:0008543 9.8 KL GALNT3 FGF23
8 bone mineralization GO:0030282 9.78 PHEX CYP27B1 BGLAP
9 calcium ion homeostasis GO:0055074 9.73 PTH KL CYP27B1
10 negative regulation of bone mineralization GO:0030502 9.72 FGF23 ENPP1 AHSG
11 phosphate ion transport GO:0006817 9.71 SLC34A3 SLC34A1 SLC20A2
12 cellular response to parathyroid hormone stimulus GO:0071374 9.7 SLC34A1 PHEX FGF23
13 phosphate ion homeostasis GO:0055062 9.69 SLC34A1 PTH FGF23
14 cellular response to vitamin D GO:0071305 9.67 PHEX FGF23 CASR BGLAP
15 positive regulation of keratinocyte differentiation GO:0045618 9.65 VDR CYP27B1
16 phosphate ion transmembrane transport GO:0035435 9.65 SLC34A1 SLC20A2
17 response to growth hormone GO:0060416 9.64 SLC34A1 PHEX
18 response to magnesium ion GO:0032026 9.63 SLC34A1 FGF23
19 vitamin D catabolic process GO:0042369 9.63 FGF23 CYP27B1 CYP24A1
20 response to fibroblast growth factor GO:0071774 9.62 PTH CASR
21 vitamin metabolic process GO:0006766 9.62 CYP27B1 CYP24A1
22 vitamin D metabolic process GO:0042359 9.62 VDR FGF23 CYP27B1 CYP24A1
23 response to parathyroid hormone GO:0071107 9.61 SLC34A1 PTH
24 positive regulation of vitamin D 24-hydroxylase activity GO:0010980 9.61 VDR FGF23 CYP27B1
25 positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway GO:0090080 9.59 KL FGF23
26 response to sodium phosphate GO:1904383 9.58 PHEX FGF23
27 vitamin D receptor signaling pathway GO:0070561 9.58 VDR CYP24A1
28 sodium-dependent phosphate transport GO:0044341 9.57 SLC34A3 SLC34A1
29 cellular phosphate ion homeostasis GO:0030643 9.56 SLC34A3 SLC34A1 FGF23 ENPP1
30 biomineral tissue development GO:0031214 9.55 PHEX MEPE FAM20C ENPP1 BGLAP
31 response to vitamin D GO:0033280 9.35 PTH PHEX CYP27B1 CYP24A1 BGLAP
32 regulation of bone mineralization GO:0030500 9.1 MGP FGF23 ENPP1 CYP27B1 BGLAP AHSG

Molecular functions related to Phosphorus Metabolism Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 symporter activity GO:0015293 9.33 SLC34A3 SLC34A1 SLC20A2
2 structural constituent of bone GO:0008147 8.96 MGP BGLAP
3 sodium:phosphate symporter activity GO:0005436 8.8 SLC34A3 SLC34A1 SLC20A2

Sources for Phosphorus Metabolism Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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