MCID: PHS001
MIFTS: 37

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 73
Disorder of Phosphorus Metabolism 12
Phosphorus Metabolism Disorder 12
Phosphorus Disorder 12

Classifications:



External Ids:

Disease Ontology 12 DOID:2485
ICD9CM 35 275.3
MeSH 44 D010760
NCIt 50 C97095
SNOMED-CT 68 87049008
UMLS 73 C0031707

Summaries for Phosphorus Metabolism Disease

MalaCards based summary : Phosphorus Metabolism Disease, also known as phosphorus metabolism disorders, is related to hypophosphatemia and hyperphosphatemia. An important gene associated with Phosphorus Metabolism Disease is FGF23 (Fibroblast Growth Factor 23), and among its related pathways/superpathways are Signaling by FGFR2 and Parathyroid hormone synthesis, secretion and action. Affiliated tissues include kidney and bone, and related phenotypes are growth/size/body region and homeostasis/metabolism

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 72)
# Related Disease Score Top Affiliating Genes
1 hypophosphatemia 30.9 DMP1 FAM20C FGF23 PHEX PTH SLC34A1
2 hyperphosphatemia 30.5 CASR FGF23 GALNT3 GNAS KL PHEX
3 hypophosphatemic rickets, autosomal dominant 30.2 FGF23 GALNT3 PHEX SLC34A3
4 autosomal recessive hypophosphatemic rickets 30.1 DMP1 FGF23 GALNT3 PHEX
5 vitamin d-dependent rickets, type 2a 29.9 CYP27B1 PHEX VDR
6 hypophosphatemic rickets, x-linked dominant 29.6 DMP1 FGF23 KL PHEX PTH SLC34A1
7 hypophosphatemic rickets with hypercalciuria, hereditary 29.0 CYP27B1 DMP1 FGF23 GALNT3 KL PHEX
8 tracheal calcification 10.2 FGF23 KL
9 opsismodysplasia 10.2 FGF23 PHEX
10 impaired renal function disease 10.2 FGF23 PTH
11 hereditary hypophosphatemic rickets 10.2 SLC34A1 SLC34A3
12 hypocalciuric hypercalcemia, familial, type i 10.1 CASR PTH
13 hypocalciuric hypercalcemia, familial, type ii 10.1 CASR PTH
14 tumoral calcinosis, hyperphosphatemic, familial, 1 10.1 FGF23 GALNT3 KL
15 hypocalciuric hypercalcemia, familial, type iii 10.1 CASR PTH
16 hypoparathyroidism, familial isolated 10.1 CASR PTH
17 hyperostosis 10.1 FGF23 GALNT3 KL
18 urinary system disease 10.1 FGF23 KL PTH
19 hypophosphatasia, adult 10.1
20 acid phosphatase deficiency 10.1
21 hypophosphatasia, infantile 10.1
22 hypophosphatasia, childhood 10.1
23 hypophosphatasia 10.1
24 prenatal benign hypophosphatasia 10.1
25 familial isolated hyperparathyroidism 10.1 CASR PTH
26 connective tissue benign neoplasm 10.1 GNAS PTH
27 hypothyroidism, congenital, nongoitrous, 1 10.1 GNAS STX16
28 familial hypocalciuric hypercalcemia 10.1 CASR PTH
29 arterial calcification of infancy 10.1 FGF23 PHEX
30 hypoparathyroidism 10.1 CASR FGF23 PTH
31 pseudopseudohypoparathyroidism 10.1 GNAS PTH STX16
32 pseudohypoparathyroidism 10.1 GNAS PTH STX16
33 familial tumoral calcinosis 10.1 FGF23 GALNT3 KL PHEX
34 calcinosis 10.1 FGF23 GALNT3 KL PHEX
35 enthesopathy 10.0 DMP1 FGF23 PHEX
36 pseudohypoparathyroidism, type ib 10.0 GNAS PTH STX16
37 albright's hereditary osteodystrophy 10.0 GNAS STX16
38 spondylosis 10.0 KL PTH VDR
39 pulmonary alveolar microlithiasis 10.0 FGF23 PTH SLC34A1 SLC34A3
40 osteitis fibrosa 10.0 CASR GNAS PTH
41 metaphyseal chondrodysplasia, jansen type 10.0 FGF23 PTH
42 multiple endocrine neoplasia, type i 10.0 CASR GNAS PTH
43 caffey disease 10.0 FAM20C GALNT3
44 hypercalcemia, infantile, 1 10.0 CASR PTH VDR
45 oncogenic osteomalacia 10.0 DMP1 FGF23 PHEX PTH
46 parathyroid adenoma 10.0 CASR PTH VDR
47 bone remodeling disease 10.0 FGF23 PHEX PTH VDR
48 uremia 10.0 CASR PTH VDR
49 hypercalciuria, absorptive, 2 10.0 CASR SLC34A3 VDR
50 idiopathic hypercalciuria 9.9 CASR SLC34A3 VDR

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 Failure 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

MGI Mouse Phenotypes related to Phosphorus Metabolism Disease:

46 (show all 18)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.34 CASR CYP27B1 DMP1 FAM20C FGF23 GALNT3
2 homeostasis/metabolism MP:0005376 10.28 CASR CYP27B1 DMP1 FAM20C FGF23 GALNT3
3 cardiovascular system MP:0005385 10.26 CYP27B1 DMP1 FGF23 GALNT3 GNAS KL
4 cellular MP:0005384 10.25 CASR CYP27B1 DMP1 FAM20C GALNT3 GNAS
5 behavior/neurological MP:0005386 10.22 CASR CYP27B1 FAM20C GNAS KL PHEX
6 endocrine/exocrine gland MP:0005379 10.21 CASR CYP27B1 FAM20C FGF23 GALNT3 GNAS
7 hematopoietic system MP:0005397 10.2 CASR CYP27B1 DMP1 FAM20C FGF23 GALNT3
8 craniofacial MP:0005382 10.19 CYP27B1 DMP1 FAM20C GALNT3 GNAS KL
9 immune system MP:0005387 10.14 CASR CYP27B1 DMP1 FAM20C FGF23 GALNT3
10 digestive/alimentary MP:0005381 10.13 CASR FAM20C FGF23 GALNT3 KL PHEX
11 limbs/digits/tail MP:0005371 10.02 CYP27B1 DMP1 FAM20C FGF23 GALNT3 GNAS
12 adipose tissue MP:0005375 9.97 CYP27B1 GNAS KL PHEX STX16
13 renal/urinary system MP:0005367 9.93 CASR CYP27B1 DMP1 FAM20C FGF23 GALNT3
14 integument MP:0010771 9.91 CASR CYP27B1 FGF23 GALNT3 GNAS KL
15 hearing/vestibular/ear MP:0005377 9.88 FAM20C GNAS KL PHEX VDR
16 muscle MP:0005369 9.8 CASR CYP27B1 GALNT3 GNAS KL SLC34A1
17 reproductive system MP:0005389 9.5 CYP27B1 FAM20C FGF23 GALNT3 KL SLC34A1
18 skeleton MP:0005390 9.47 CASR CYP27B1 DMP1 FAM20C FGF23 GALNT3

Drugs & Therapeutics for Phosphorus Metabolism Disease

Search Clinical Trials , NIH Clinical Center for Phosphorus Metabolism Disease

Inferred drug relations via UMLS 73 / NDF-RT 51 :


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:

41
Kidney, Bone

Publications for Phosphorus Metabolism Disease

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 perinuclear region of cytoplasm GO:0048471 9.35 GALNT3 GNAS PHEX SLC34A1 STX16
2 apical plasma membrane GO:0016324 9.02 CASR GNAS KL SLC34A1 SLC34A3

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

(show all 33)
# Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.87 DMP1 FAM20C FGF23 SLC34A1
2 calcium ion transport GO:0006816 9.82 CYP27B1 PTH VDR
3 cellular calcium ion homeostasis GO:0006874 9.79 CASR PTH VDR
4 ossification GO:0001503 9.78 CASR DMP1 SLC34A1
5 fibroblast growth factor receptor signaling pathway GO:0008543 9.77 FGF23 GALNT3 KL
6 skeletal system development GO:0001501 9.72 FAM20C GNAS PHEX PTH VDR
7 bone mineralization GO:0030282 9.71 CYP27B1 PHEX PTH
8 biomineral tissue development GO:0031214 9.67 DMP1 FAM20C PHEX
9 calcium ion homeostasis GO:0055074 9.66 CYP27B1 KL
10 response to cadmium ion GO:0046686 9.65 PTH SLC34A1
11 decidualization GO:0046697 9.65 CYP27B1 VDR
12 regulation of bone mineralization GO:0030500 9.65 CYP27B1 FGF23
13 positive regulation of bone mineralization GO:0030501 9.65 FAM20C KL PTH
14 response to lead ion GO:0010288 9.64 PTH SLC34A1
15 energy reserve metabolic process GO:0006112 9.63 GNAS KL
16 positive regulation of keratinocyte differentiation GO:0045618 9.63 CYP27B1 VDR
17 response to vitamin D GO:0033280 9.63 CYP27B1 PHEX PTH
18 response to growth hormone GO:0060416 9.62 PHEX SLC34A1
19 response to magnesium ion GO:0032026 9.62 FGF23 SLC34A1
20 vitamin D metabolic process GO:0042359 9.61 CYP27B1 FGF23 VDR
21 phosphate ion transport GO:0006817 9.6 SLC34A1 SLC34A3
22 response to fibroblast growth factor GO:0071774 9.58 CASR PTH
23 sodium-dependent phosphate transport GO:0044341 9.58 SLC34A1 SLC34A3
24 cellular response to vitamin D GO:0071305 9.58 CASR FGF23 PHEX
25 dentinogenesis GO:0097187 9.56 FAM20C SLC34A1
26 positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway GO:0090080 9.55 FGF23 KL
27 cellular response to parathyroid hormone stimulus GO:0071374 9.54 FGF23 PHEX SLC34A1
28 response to sodium phosphate GO:1904383 9.52 FGF23 PHEX
29 vitamin D catabolic process GO:0042369 9.51 CYP27B1 FGF23
30 cellular phosphate ion homeostasis GO:0030643 9.43 FGF23 SLC34A1 SLC34A3
31 phosphate ion homeostasis GO:0055062 9.33 FGF23 PTH SLC34A1
32 response to parathyroid hormone GO:0071107 9.13 GNAS PTH SLC34A1
33 positive regulation of vitamin D 24-hydroxylase activity GO:0010980 8.8 CYP27B1 FGF23 VDR

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

# Name GO ID Score Top Affiliating Genes
1 fibroblast growth factor receptor binding GO:0005104 9.26 FGF23 KL
2 sodium:phosphate symporter activity GO:0005436 9.16 SLC34A1 SLC34A3
3 sodium-dependent phosphate transmembrane transporter activity GO:0015321 8.96 SLC34A1 SLC34A3
4 vitamin D binding GO:0005499 8.62 KL VDR

Sources for Phosphorus Metabolism Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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