Rickets, Hypophosphatemic

A disorder characterized by HYPOPHOSPHATEMIA; RICKETS; OSTEOMALACIA; resulting from lack of phosphate reabsorption by the kidneys and possible defects in vitamin D metabolism.

Synonym
Rickets, Hypophosphatemic

Excerpt	Reference
"X- linked hypophosphatemic rickets is a rare disease inherited through X chromosome, and its treatment includes a constant use of calcitriol and phosphates with the aim of avoidance of clinical and laboratory manifestations."	( Azemi, M; Berisha, M; Hoxha, R; Hoxha-Kamberi, T; Ismaili-Jaha, V; Kolgeci, S, 2013)
"Hypophosphatemic rickets is one of the major causes of refractory rickets exhibiting genetic heterogeneity."	( Arora, V; Sandal, S; Verma, IC, 2021)
"Hypophosphatemic rickets is associated with delayed walking, bone deformities, growth failure and physical dysfunction that can limit daily activities."	( Al-Sharafi, BA; Al-Yousfi, NA; Bamashmus, SA, 2021)

Excerpt	Reference
"Awareness for hypophosphatemic rickets has increased in the last years, based on the availability of specific medical treatments."	( Grasemann, C; Höppner, J; Kornak, U; Oheim, R; Rutsch, F; Sinningen, K, 2021)

Timeframe	Studies, This Condition (%)	All Conditions %
pre-1990	29 (34.94)	23.3326
1990's	0 (0.00)	12.5806
2000's	0 (0.00)	18.1394
2010's	35 (42.17)	28.8240
2020's	19 (22.89)	9.53

Drug	Relationship Strength	Studies
adenine	low	1
glycine	low	1
alendronate	low	1
bupivacaine	low	1
fentanyl	low	1
lidocaine	low	1
midazolam	low	1
hydroxyproline	low	1
glutamine	low	1
methionine	low	1
thiamine pyrophosphate	low	1
tricalcium phosphate	low	1
trolamine salicylate	low	1
glucaric acid	low	2
adefovir	low	1
ropivacaine	low	1
organophosphonates	low	1
cholecalciferol	low	2
phosphorus	low	14
s 1743	low	1
dihydrotachysterol	low	1
acid phosphatase	low	1
3-(2,6-dichloro-3,5-dimethoxyphenyl)-1-(6-(4-(4-ethylpiperazin-1-yl)-phenylamino)pyrimidin-4-yl)-1-methylurea	low	1
ascorbic acid	low	1
transforming growth factor beta	low	1
hexa-d-arginine	low	1
ferric oxide, saccharated	low	2
exudates	low	2
neopterin	low	1

Protein Targets (327)

Protein	Potency Measurements	Inhibition Measurements	Activation Measurements	Drugs
PPM1D protein	3	0	0	3
cytochrome P450 family 3 subfamily A polypeptide 4	5	0	0	5
EWS/FLI fusion protein	2	0	0	2
G	2	0	0	2
cytochrome P450 2D6	2	0	0	2
Interferon beta	3	0	0	3
HLA class I histocompatibility antigen, B alpha chain	2	0	0	2
Fibroblast growth factor receptor 1	0	1	0	1
Fibroblast growth factor receptor 2	0	1	0	1
Fibroblast growth factor receptor 4	0	1	0	1
Fibroblast growth factor receptor 3	0	1	0	1
Fibroblast growth factor receptor 4	0	1	0	1
Inositol hexakisphosphate kinase 1	2	0	0	2
Smoothened homolog	0	1	0	1
cytochrome P450 2C9, partial	2	0	0	2
potassium voltage-gated channel subfamily H member 2 isoform d	3	0	0	3
thyroid hormone receptor beta isoform 2	2	0	0	2
Solute carrier family 22 member 6	0	1	0	2
Phosphoribosyl pyrophosphate synthase-associated protein 2	0	1	0	2
Adenylate kinase isoenzyme 1	0	0	0	1
Adenylate kinase 2, mitochondrial	0	0	0	1
Adenosine deaminase	0	1	0	2
Capsid protein	0	0	1	1
Solute carrier family 22 member 6	0	2	0	3
Solute carrier family 22 member 8	0	1	0	2
Chain A, MAJOR APURINIC/APYRIMIDINIC ENDONUCLEASE	2	0	0	2
Chain A, MTA/SAH nucleosidase	0	1	0	1
Chain A, Ribosome-inactivating protein alpha-trichosanthin	0	0	1	1
Chain A, Ricin A chain	0	0	1	1
Chain A, Ribosome-inactivating protein 3	0	0	1	1
Chain A, Phenylethanolamine N-methyltransferase	0	0	1	1
Chain A, Phenylethanolamine N-methyltransferase	0	0	1	1
Chain A, Phenylethanolamine N-methyltransferase	0	0	1	1
Chain A, Phenylethanolamine N-methyltransferase	0	0	1	1
Chain A, Phenylethanolamine N-methyltransferase	0	0	1	1
Chain A, Phenylethanolamine N-methyltransferase	0	0	1	1
Chain A, Phenylethanolamine N-methyltransferase	0	0	1	1
Chain A, Phenylethanolamine N-methyltransferase	0	0	1	1
Chain A, Phenylethanolamine N-methyltransferase	0	0	1	1
Chain A, Phenylethanolamine N-methyltransferase	0	0	1	1
Chain A, Phenylethanolamine N-methyltransferase	0	0	1	1
Chain A, Phenylethanolamine N-methyltransferase	0	0	1	1
Chain A, Phenylethanolamine N-methyltransferase	0	0	1	1
RAR-related orphan receptor gamma	4	0	0	4
TDP1 protein	5	0	0	5
AR protein	7	0	0	7
nuclear receptor subfamily 1, group I, member 3	1	0	0	1
glucocorticoid receptor [Homo sapiens]	3	0	0	3
estrogen-related nuclear receptor alpha	2	0	0	2
pregnane X nuclear receptor	3	0	0	3
estrogen nuclear receptor alpha	5	0	0	5
cytochrome P450, family 19, subfamily A, polypeptide 1, isoform CRA_a	1	0	0	1
nuclear factor erythroid 2-related factor 2 isoform 2	2	0	0	2
heat shock protein beta-1	1	0	0	1
importin subunit beta-1 isoform 1	1	0	0	1
snurportin-1	1	0	0	1
tumor susceptibility gene 101 protein	1	0	0	1
GTP-binding nuclear protein Ran isoform 1	1	0	0	1
lamin isoform A-delta10	4	0	0	4
Voltage-dependent calcium channel gamma-2 subunit	1	0	0	1
Bile salt export pump	0	8	0	8
Cyclin-dependent kinase 1	0	1	0	1
Heat shock protein HSP 90-beta	0	1	0	1
Glutamate receptor 2	1	0	0	1
Xanthine dehydrogenase/oxidase	0	1	0	1
TAR DNA-binding protein 43	1	0	0	1
Protein mono-ADP-ribosyltransferase PARP15	0	1	0	1
Leucine-rich repeat serine/threonine-protein kinase 2	0	2	0	2
ATPase family AAA domain-containing protein 5	1	0	0	1
Ataxin-2	1	0	0	1
Chain A, farnesyl pyrophosphate synthase	0	1	0	1
Geranylgeranyl pyrophosphate synthase	0	1	0	1
Farnesyl pyrophosphate synthase	0	2	0	2
Acetylcholinesterase	0	2	0	2
Hypoxanthine-guanine phosphoribosyltransferase	0	1	0	1
Farnesyl pyrophosphate synthase	0	1	0	1
Farnesyl pyrophosphate synthase	0	1	0	1
Chain A, Hyaluronidase, phage associated	0	1	0	1
acetylcholinesterase	1	0	0	1
GLI family zinc finger 3	1	0	0	1
thioredoxin glutathione reductase	3	0	0	3
retinoic acid nuclear receptor alpha variant 1	1	0	0	1
vitamin D (1,25- dihydroxyvitamin D3) receptor	4	0	0	4
IDH1	2	0	0	2
euchromatic histone-lysine N-methyltransferase 2	10	0	0	10
chromobox protein homolog 1	2	0	0	2
nuclear factor erythroid 2-related factor 2 isoform 1	2	0	0	2
lethal(3)malignant brain tumor-like protein 1 isoform I	1	0	0	1
geminin	8	0	0	8
lethal factor (plasmid)	1	0	0	1
Polyphenol oxidase 2	0	2	0	3
Pancreatic alpha-amylase	0	2	0	2
Albumin	0	1	0	1
Urease	0	1	0	1
Prolyl 4-hydroxylase subunit alpha-1	0	0	0	1
Tyrosinase	0	1	0	1
Alpha-2B adrenergic receptor	0	0	1	1
Spike glycoprotein	1	0	0	1
Hyaluronate lyase	0	1	0	1
Prolyl hydroxylase EGLN2	0	0	0	1
Egl nine homolog 1	0	0	0	1
Prolyl hydroxylase EGLN3	0	0	0	1
Hypoxia-inducible factor 1-alpha inhibitor	0	0	0	1
Solute carrier family 23 member 1	0	1	0	1
Potassium channel subfamily K member 3	0	3	0	3
Potassium channel subfamily K member 3	0	1	0	1
Potassium channel subfamily K member 2	0	1	1	2
Potassium channel subfamily K member 9	0	1	0	1
Chain A, Vitamin D Nuclear Receptor	0	0	1	1
Chain A, Beta-lactamase	3	0	0	3
Chain A, Ferritin light chain	2	0	0	2
Vitamin D3 receptor	0	0	1	1
USP1 protein, partial	3	0	0	3
Microtubule-associated protein tau	3	0	0	3
mitogen-activated protein kinase 1	2	0	0	2
nuclear receptor ROR-gamma isoform 1	3	0	0	3
peripheral myelin protein 22	4	0	0	4
ATP-binding cassette sub-family C member 3	0	3	0	3
Multidrug resistance-associated protein 4	0	3	0	3
Vitamin D-binding protein	0	0	1	1
Cytochrome P450 1A2	0	0	0	1
Cytochrome P450 3A4	0	3	0	4
Androgen receptor	0	1	0	1
Cytochrome P450 2D6	0	1	0	1
Vitamin D3 receptor	0	2	3	9
Cytochrome P450 2C9	0	1	0	2
Vitamin D3 receptor	0	1	1	3
Retinoic acid receptor RXR-alpha	0	0	1	1
Cytochrome P450 2C19	0	1	0	1
Kappa-type opioid receptor	0	2	1	3
Vitamin D3 receptor	0	0	2	2
1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial	0	0	1	1
Vitamin D3 receptor	0	1	1	2
Transporter	0	1	0	1
Canalicular multispecific organic anion transporter 1	0	3	0	3
Vitamin D3 receptor A	0	0	2	2
Chain A, HADH2 protein	2	0	0	2
Chain B, HADH2 protein	2	0	0	2
Chain A, Cruzipain	1	0	0	1
Luciferase	2	0	0	2
interleukin 8	1	0	0	1
15-lipoxygenase, partial	2	0	0	2
aldehyde dehydrogenase 1 family, member A1	4	0	0	4
retinoid X nuclear receptor alpha	3	0	0	3
farnesoid X nuclear receptor	1	0	0	1
peroxisome proliferator-activated receptor delta	1	0	0	1
peroxisome proliferator activated receptor gamma	1	0	0	1
15-hydroxyprostaglandin dehydrogenase [NAD(+)] isoform 1	3	0	0	3
vitamin D3 receptor isoform VDRA	1	0	0	1
thyroid hormone receptor beta isoform a	1	0	0	1
DNA polymerase kappa isoform 1	1	0	0	1
survival motor neuron protein isoform d	2	0	0	2
cytochrome P450 3A4 isoform 1	2	0	0	2
Gamma-aminobutyric acid receptor subunit pi	2	1	0	3
Cellular tumor antigen p53	1	0	0	1
60 kDa chaperonin	0	2	0	2
60 kDa heat shock protein, mitochondrial	0	2	0	2
Gamma-aminobutyric acid receptor subunit beta-1	2	1	0	3
Gamma-aminobutyric acid receptor subunit delta	2	1	0	3
Gamma-aminobutyric acid receptor subunit gamma-2	2	1	0	3
Gamma-aminobutyric acid receptor subunit alpha-5	2	1	0	3
Gamma-aminobutyric acid receptor subunit alpha-3	2	1	0	3
Glycine receptor subunit alpha-1	0	0	3	3
Gamma-aminobutyric acid receptor subunit gamma-1	2	1	0	3
Gamma-aminobutyric acid receptor subunit alpha-2	2	1	0	3
Gamma-aminobutyric acid receptor subunit alpha-4	2	1	0	3
Gamma-aminobutyric acid receptor subunit gamma-3	2	1	0	3
Gamma-aminobutyric acid receptor subunit alpha-6	2	1	0	3
Nuclear receptor ROR-gamma	1	0	0	1
10 kDa heat shock protein, mitochondrial	0	2	0	2
Gamma-aminobutyric acid receptor subunit alpha-1	2	1	0	3
Gamma-aminobutyric acid receptor subunit beta-3	2	1	0	3
Gamma-aminobutyric acid receptor subunit beta-2	2	1	0	3
Thiosulfate sulfurtransferase	0	2	0	2
60 kDa chaperonin	0	2	0	2
10 kDa chaperonin	0	2	0	2
GABA theta subunit	2	1	0	3
Gamma-aminobutyric acid receptor subunit epsilon	2	1	0	3
phosphopantetheinyl transferase	1	0	0	1
Smad3	1	0	0	1
PINK1	1	0	0	1
67.9K protein	1	0	0	1
Parkin	1	0	0	1
huntingtin isoform 2	1	0	0	1
Extracellular calcium-sensing receptor	0	0	1	1
Angiotensin-converting enzyme 2	0	1	0	1
Solute carrier family 22 member 1	0	2	0	2
Nuclear receptor subfamily 1 group I member 2	0	0	1	1
ATP-dependent translocase ABCB1	0	2	0	2
D(2) dopamine receptor	0	1	0	1
Amine oxidase [flavin-containing] A	0	1	0	1
D(4) dopamine receptor	0	1	0	1
Amine oxidase [flavin-containing] B	0	1	0	1
Delta-type opioid receptor	0	2	0	2
Delta-type opioid receptor	0	2	0	2
Mu-type opioid receptor	0	2	1	3
Kappa-type opioid receptor	0	1	0	1
Histamine H1 receptor	0	1	0	1
Mu-type opioid receptor	0	2	1	3
D(3) dopamine receptor	0	1	0	1
Delta-type opioid receptor	0	2	0	2
Kappa-type opioid receptor	0	2	0	2
Mu-type opioid receptor	0	1	0	1
Mu-type opioid receptor	0	2	0	2
Potassium voltage-gated channel subfamily H member 2	0	2	0	2
Sigma non-opioid intracellular receptor 1	0	2	0	2
Sigma non-opioid intracellular receptor 1	0	2	0	2
Sigma non-opioid intracellular receptor 1	0	1	0	1
Chain A, Glutamine Binding Protein	0	0	1	1
thioredoxin reductase	3	0	0	3
GLS protein	2	0	0	2
arylsulfatase A	1	0	0	1
Bloom syndrome protein isoform 1	1	0	0	1
peripheral myelin protein 22 isoform 1	1	0	0	1
flap endonuclease 1	2	0	0	2
histone-lysine N-methyltransferase 2A isoform 2 precursor	1	0	0	1
Carbonic anhydrase 1	0	2	0	3
Carbonic anhydrase 2	0	2	0	3
Neutral amino acid transporter A	0	2	0	2
Asc-type amino acid transporter 1	0	2	0	2
Neutral amino acid transporter B(0)	0	2	0	2
Carbonic anhydrase-like protein, putative	0	0	0	1
Amino acid transporter	0	2	0	2
ATP-dependent phosphofructokinase	1	0	0	1
Sodium- and chloride-dependent GABA transporter 2	0	1	0	1
Sodium- and chloride-dependent GABA transporter 3	0	1	0	1
Glutamate receptor ionotropic, NMDA 1	0	2	1	3
Sodium- and chloride-dependent glycine transporter 1	0	1	0	1
Glutamate receptor ionotropic, NMDA 2A	0	2	1	3
Glutamate receptor ionotropic, NMDA 2B	0	2	1	3
Glutamate receptor ionotropic, NMDA 2C	0	2	1	3
Large neutral amino acids transporter small subunit 1	0	2	0	2
Glutamate receptor ionotropic, NMDA 2D	0	2	1	3
Proton-coupled amino acid transporter 1	0	2	0	2
Glutamate receptor ionotropic, NMDA 3B	0	2	1	3
Serine racemase	0	1	0	1
Olfactory receptor 51E2	0	0	1	1
Glutamate receptor ionotropic, NMDA 3A	0	2	1	3
Sodium- and chloride-dependent glycine transporter 2	0	1	0	1
muscarinic acetylcholine receptor M1	1	0	0	1
Sodium channel protein type 1 subunit alpha	0	1	0	1
Sodium channel protein type 2 subunit alpha	0	1	0	1
Sodium channel protein type 3 subunit alpha	0	1	0	1
Potassium voltage-gated channel subfamily A member 5	0	1	0	1
Sodium channel protein type 4 subunit alpha	0	1	0	1
Sodium channel protein type 5 subunit alpha	0	1	0	1
Sodium channel protein type 9 subunit alpha	0	1	0	1
Potassium voltage-gated channel subfamily D member 2	0	1	0	1
Potassium channel subfamily K member 18	0	1	0	1
Multidrug and toxin extrusion protein 1	0	1	0	1
Sodium channel protein type 3 subunit alpha	0	1	0	1
Chain A, Methionyl-tRNA synthetase	0	0	1	1
Chain A, Methionyl-tRNA synthetase	0	0	1	1
Chain A, Aminopeptidase	0	1	0	1
Chain A, Methionine aminopeptidase	0	1	0	1
S-ribosylhomocysteine lyase	0	1	0	1
Adenylate cyclase type 5	0	0	0	1
S-adenosylmethionine synthase isoform type-1	0	0	0	1
S-adenosylmethionine synthase isoform type-2	0	0	0	1
Fatty acid synthase	0	1	0	1
ATP-dependent translocase ABCB1	0	1	0	1
Translocator protein	0	1	0	1
UDP-glucuronosyltransferase 2B7	0	1	0	1
UDP-glucuronosyltransferase 1-6	0	1	0	1
ATP-dependent translocase ABCB1	0	1	0	1
UDP-glucuronosyltransferase 1A1	0	1	0	1
UDP-glucuronosyltransferase 1A4	0	1	0	1
UDP-glucuronosyltransferase 2B10	0	1	0	1
Receptor-type tyrosine-protein phosphatase beta	0	0	0	1
Low molecular weight phosphotyrosine protein phosphatase	0	1	0	1
P2X purinoceptor 1	0	0	1	1
P2X purinoceptor 1	0	1	0	1
P2X purinoceptor 4	0	0	1	1
Trans-sialidase	0	1	0	1
Trans-sialidase	0	1	0	1
P2X purinoceptor 2	0	0	1	1
Chain A, 2-oxoglutarate Oxygenase	2	0	0	2
activating transcription factor 6	1	0	0	1
Pyridoxal kinase	0	0	0	1
Bile salt export pump	0	2	0	2
chaperonin-containing TCP-1 beta subunit homolog	1	0	0	1
histone acetyltransferase KAT2A isoform 1	1	0	0	1
Estrogen receptor beta	0	0	0	1
Inhibitor of nuclear factor kappa-B kinase subunit beta	0	0	0	1
Carbonic anhydrase 12	0	1	0	1
5'-AMP-activated protein kinase subunit beta-2	0	0	0	1
Albumin	0	1	0	1
Polymerase acidic protein	0	0	1	1
Carbonic anhydrase 3	0	1	0	1
Stromelysin-1	0	0	1	1
Tyrosine-protein phosphatase YopH	0	1	0	1
High mobility group protein B1	0	0	1	1
Aldo-keto reductase family 1 member B1	0	1	0	1
Prolyl 4-hydroxylase subunit alpha-1	0	1	0	1
Tyrosine-protein phosphatase non-receptor type 1	0	1	0	3
Estrogen receptor	0	0	0	1
Carbonic anhydrase 4	0	1	0	1
Prostaglandin G/H synthase 1	0	1	0	1
Carbonic anhydrase 6	0	1	0	1
Cystathionine gamma-lyase	0	1	0	1
Carbonic anhydrase 5A, mitochondrial	0	1	0	1
Prostaglandin G/H synthase 2	0	1	0	1
Carbonic anhydrase 7	0	1	0	1
5'-AMP-activated protein kinase subunit gamma-1	0	0	0	1
5'-AMP-activated protein kinase catalytic subunit alpha-2	0	0	0	1
Xanthine dehydrogenase/oxidase	0	1	0	1
5'-AMP-activated protein kinase catalytic subunit alpha-1	0	0	0	1
Carbonic anhydrase 9	0	1	0	1
Carbonic anhydrase	0	1	0	1
Solute carrier family 22 member 7	0	0	0	1
Nicotinate phosphoribosyltransferase	0	1	0	1
Solute carrier family 22 member 20	0	1	0	1
Solute carrier family 22 member 6	0	1	0	1
Ubiquitin-like domain-containing CTD phosphatase 1	0	1	0	1
Carbonic anhydrase 15	0	1	0	1
Carbonic anhydrase 13	0	1	0	1
5'-AMP-activated protein kinase subunit gamma-3	0	0	0	1
5'-AMP-activated protein kinase subunit gamma-2	0	0	0	1
Carbonic anhydrase 14	0	1	0	1
Carbonic anhydrase 5B, mitochondrial	0	1	0	1
5'-AMP-activated protein kinase subunit beta-1	0	0	0	1
Acetylcholinesterase	0	1	0	1
1-deoxy-D-xylulose-5-phosphate synthase	0	0	1	1
1-deoxy-D-xylulose-5-phosphate synthase	0	0	1	1
Chain A, JmjC domain-containing histone demethylation protein 3A	1	0	0	1
eyes absent homolog 2 isoform a	1	0	0	1
Rap guanine nucleotide exchange factor 3	1	0	0	1
[prepared from compound, protein, and bioassay information from National Library of Medicine (NLM), extracted Dec-2023]

Synonyms(1)

Research Excerpts

Overview

Context

Research

Studies (83)

Protein Targets (327)

Rickets, Hypophosphatemic

Synonyms(1)

Research Excerpts

Overview

Context

Research

Studies (83)

Drugs Studied (38)

Protein Targets (327)