XLHR
MCID: HYP609
MIFTS: 52

Hypophosphatemic Rickets, X-Linked Dominant (XLHR) malady

Categories: Genetic diseases, Rare diseases, Nephrological diseases, Bone diseases, Endocrine diseases, Fetal diseases

Aliases & Classifications for Hypophosphatemic Rickets, X-Linked Dominant

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Aliases & Descriptions for Hypophosphatemic Rickets, X-Linked Dominant:

Name: Hypophosphatemic Rickets, X-Linked Dominant 52 48 24 70 12 68
X-Linked Hypophosphatemic Rickets 11 23 48 24 54 13
X-Linked Hypophosphatemia 35 11 23 48 24 54
Vitamin D-Resistant Rickets, X-Linked 11 48 68
Xlhr 23 24 70
Xlh 48 54 70
X-Linked Vitamin D-Resistant Rickets 23 24
Familial Hypophosphatemic Rickets 39 68
Hpdr 48 70
Hypophosphatemia, Vitamin D-Resistant Rickets 11
 
Hypophosphatemic Vitamin D-Resistant Rickets 70
Hypophophatemic Vitamin D-Resistant Rickets 48
Hypophosphatemic Rickets X-Linked Dominant 11
Vitamin D-Resistant Rickets X-Linked 70
Rickets, X-Linked Hypophosphatemic 68
Rickets, Vitamin D-Resistant 11
Vitamin D-Resistant Rickets 68
Hypophophatemia, X-Linked 48
Hypophosphatemia X-Linked 70
Hyp 70

Characteristics:

Orphanet epidemiological data:

54
x-linked hypophosphatemic rickets:
Inheritance: X-linked dominant; Age of onset: Childhood; Age of death: normal life expectancy

HPO:

64
hypophosphatemic rickets, x-linked dominant:
Inheritance: x-linked dominant inheritance
Onset and clinical course: phenotypic variability

GeneReviews:

23
Penetrance: despite a wide degree of clinical variability in xlh, penetrance is often said to be 100% by age one year [sabbagh et al 2014]. there is no known difference between penetrance in males and females...


Classifications:



External Ids:

OMIM52 307800
Disease Ontology11 DOID:0050445
MeSH39 D053098
NCIt45 C85234
Orphanet54 ORPHA89936
ICD10 via Orphanet31 E83.3
MedGen37 C0733682

Summaries for Hypophosphatemic Rickets, X-Linked Dominant

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NIH Rare Diseases:48 X-linked hypophosphatemia (xlh) is an inherited disorder characterized by low levels of phosphate in the blood. phosphate levels are low because phosphate is abnormally processed in the kidneys, which causes a loss of phosphate in the urine (phosphate wasting) and leads to soft, weak bones (rickets). xlh is usually diagnosed in childhood. features include bowed or bent legs, short stature, bone pain, and severe dental pain. the condition is caused by mutations in the phex gene on the x chromosome, and is inherited in an x-linked dominant manner. treatment generally involves supplements of phosphate and high-dose calcitriol (the active form of vitamin d), and may also include growth hormones, corrective surgery, and dental treatment. with consistent treatment, the long term outlook (prognosis) is typically good, although growth rate may be slow and affected individuals are usually shorter than their peers.   last updated: 5/27/2016

MalaCards based summary: Hypophosphatemic Rickets, X-Linked Dominant, also known as x-linked hypophosphatemic rickets, is related to hypophosphatemic rickets and rickets, vitamin d-resistant, type iia, and has symptoms including arthralgia, bone pain and Array. An important gene associated with Hypophosphatemic Rickets, X-Linked Dominant is PHEX (Phosphate Regulating Endopeptidase Homolog, X-Linked), and among its related pathways are Osteoblast Signaling and Development_Hedgehog and PTH signaling pathways in bone and cartilage development. Affiliated tissues include bone, kidney and spinal cord, and related mouse phenotypes are craniofacial and digestive/alimentary.

UniProtKB/Swiss-Prot:70 Hypophosphatemic rickets, X-linked dominant: A disorder characterized by impaired phosphate uptake in the kidney, which is likely to be caused by abnormal regulation of sodium phosphate cotransport in the proximal tubules. Clinical manifestations include skeletal deformities, growth failure, craniosynostosis, paravertebral calcifications, pseudofractures in lower extremities, and muscular hypotonia with onset in early childhood. X-linked hypophosphatemic rickets is the most common form of hypophosphatemia with an incidence of 1 in 20000.

OMIM:52 X-linked dominant hypophosphatemic rickets, although variable in its expressivity, is characterized by rickets with... (307800) more...

Disease Ontology:11 A rickets that results has material basis in X-linked mutations in the PHEX gene that lead to increased circulating levels of FGF-23, a phosphate-regulating hormone (phosphatonin), that leads to reduced renal phosphate reabsorption and consequently abnormal bone mineralization.

Wikipedia:71 X-linked hypophosphatemia (XLH), also called X-linked dominant hypophosphatemic rickets, X-linked... more...

GeneReviews for NBK83985

Related Diseases for Hypophosphatemic Rickets, X-Linked Dominant

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Diseases related to Hypophosphatemic Rickets, X-Linked Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 62)
idRelated DiseaseScoreTop Affiliating Genes
1hypophosphatemic rickets11.5
2rickets, vitamin d-resistant, type iia11.3
3hereditary hypophosphatemic rickets11.3
4hypophosphatemia10.8
5hypophosphatemic rickets, autosomal dominant10.8
6wiedemann-steiner syndrome10.2FGF23, PHEX
7rickets10.2
8familial atrial fibrillation10.2FGF23, PHEX
9ventricular tachycardia, catecholaminergic polymorphic, 310.2DMP1, FGF23
10maroteaux stanescu cousin syndrome10.1FGF23, PHEX
11osteomalacia10.1
12nephrocalcinosis10.1
13enthesopathy10.1
14achalasia-addisonianism-alacrimia syndrome10.1CYP27B1, VDR
15acute maxillary sinusitis10.1DMP1, FGF23, PHEX
16keratoderma with woolly hair10.1SLC34A1, SLC34A3
17deafness, nonsyndromic, modifier 110.1SLC34A3, VDR
18x-linked hereditary ataxia10.1DMP1, FGF23, PHEX
19oligospermia10.1FGF23, KL
20oncogenic osteomalacia10.1
21donnai-barrow syndrome10.1FGF23, KL
22prediabetes syndrome10.1FGF23, PTH
23toenail dystrophy, isolated10.1FGF23, PTH
24tinea unguium10.1FGF23, PTH, VDR
25opioid abuse10.0FGF23, PTH, VDR
26parathyroid carcinoma10.0FGF23, PTH, VDR
27feigenbaum bergeron richardson syndrome10.0FGF23, KL, PHEX
28childhood absence epilepsy10.0FGF23, KL, PHEX
29y chromosome detection10.0CYP27B1, PTH, VDR
30waardenburg syndrome, type 4b10.0PTH, SLC34A1, VDR
31hyperparathyroidism10.0
32periodontitis10.0
33newborn respiratory distress syndrome10.0SLC34A1, SLC34A3, VDR
34interstitial nephritis9.9PTH, SLC34A1
35osteochondrodysplasia9.9KL, PTH, VDR
36acrorenal syndrome9.9PTH, VDR
37calcinosis9.9FGF23, KL, PTH
38pes anserinus tendinitis or bursitis9.9CYP27B1, FGF23, PTH, VDR
39chronic myocardial ischemia9.9CYP27B1, FGF23, PTH, VDR
40joubert syndrome 99.8FGF23, PTH, SLC34A1, SLC34A3
41marfan syndrome9.8
42renal tubular acidosis9.8
43fibrous dysplasia9.8
44osteogenesis imperfecta9.8
45hypophosphatasia9.8
46paraplegia9.8
47dwarfism9.8
48peroxisome biogenesis disorder 2b9.8FGF23, PHEX, SFRP4, SLC34A3
49lymphangioleiomyomatosis9.8DMP1, FGF23, PHEX, SLC34A1, SLC34A3
50orbit lymphoma9.8CYP27B1, FGF23, KL, PTH

Graphical network of the top 20 diseases related to Hypophosphatemic Rickets, X-Linked Dominant:



Diseases related to hypophosphatemic rickets, x-linked dominant

Symptoms & Phenotypes for Hypophosphatemic Rickets, X-Linked Dominant

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Symptoms by clinical synopsis from OMIM:

307800

Clinical features from OMIM:

307800

Human phenotypes related to Hypophosphatemic Rickets, X-Linked Dominant:

 54 64 (show all 35)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the teeth54 Very frequent (99-80%)
2 hearing impairment64 54 Occasional (29-5%) HP:0000365
3 abnormality of dental enamel64 54 Very frequent (99-80%) HP:0000682
4 rachitic rosary64 54 Very frequent (99-80%) HP:0000897
5 abnormality of the metaphyses64 54 Very frequent (99-80%) HP:0000944
6 craniosynostosis64 54 Frequent (79-30%) HP:0001363
7 joint dislocation64 54 Very frequent (99-80%) HP:0001373
8 hypophosphatemia64 54 Very frequent (99-80%) HP:0002148
9 bone pain64 54 Very frequent (99-80%) HP:0002653
10 rickets64 54 Very frequent (99-80%) HP:0002748
11 osteomalacia64 54 Very frequent (99-80%) HP:0002749
12 recurrent fractures64 54 Occasional (29-5%) HP:0002757
13 osteoarthritis64 54 Frequent (79-30%) HP:0002758
14 genu varum64 54 Very frequent (99-80%) HP:0002970
15 bowing of the legs64 54 Very frequent (99-80%) HP:0002979
16 short stature64 54 Frequent (79-30%) HP:0004322
17 enthesitis64 54 Frequent (79-30%) HP:0100686
18 renal phosphate wasting64 HP:0000117
19 renal tubular dysfunction64 HP:0000124
20 frontal bossing64 HP:0002007
21 spinal cord compression64 HP:0002176
22 abnormality of pelvic girdle bone morphology64 HP:0002644
23 arthralgia64 HP:0002829
24 femoral bowing64 HP:0002980
25 tibial bowing64 HP:0002982
26 metaphyseal irregularity64 HP:0003025
27 elevated alkaline phosphatase64 HP:0003155
28 elevated circulating parathyroid hormone level64 HP:0003165
29 spinal canal stenosis64 HP:0003416
30 hypophosphatemic rickets64 HP:0004912
31 hypomineralization of enamel64 HP:0006285
32 trapezoidal distal femoral condyles64 HP:0006432
33 shortening of the talar neck64 HP:0008117
34 flattening of the talar dome64 HP:0008144
35 fibular bowing64 HP:0010502

UMLS symptoms related to Hypophosphatemic Rickets, X-Linked Dominant:


arthralgia, bone pain

MGI Mouse Phenotypes related to Hypophosphatemic Rickets, X-Linked Dominant according to GeneCards Suite gene sharing:

41 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053829.3CYP27B1, DMP1, PHEX, PTH, VDR
2MP:00053818.5FGF23, KL, PHEX, SFRP4, SLC34A3, VDR
3MP:00053898.1CYP27B1, FGF23, KL, SFRP4, SLC34A1, VDR
4MP:00053857.9CYP27B1, DMP1, FGF23, KL, PTH, SFRP4
5MP:00053977.6CYP27B1, DMP1, FGF23, KL, PHEX, PTH
6MP:00053877.5CYP27B1, DMP1, FGF23, KL, PHEX, PTH
7MP:00053717.5CYP27B1, DMP1, FGF23, KL, PHEX, PTH
8MP:00053677.0CYP27B1, DMP1, FGF23, KL, PHEX, SFRP4
9MP:00053786.6CYP27B1, DMP1, FGF23, KL, PHEX, PTH
10MP:00053766.6CYP27B1, DMP1, FGF23, KL, PHEX, PTH
11MP:00053905.8CYP27B1, DMP1, FGF23, KL, PHEX, PTH

Drugs & Therapeutics for Hypophosphatemic Rickets, X-Linked Dominant

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Drugs for Hypophosphatemic Rickets, X-Linked Dominant (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 43)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Ergocalciferolapproved, nutraceuticalPhase 3128150-14-65280793
Synonyms:
'Ergosterol irradiated'
(+)-Vitamin D2
(3-beta,5Z,7E,22E)-9,10-Secoergosta-5,7,10,(19),22-tetraen-3-ol
(3S,5Z,7E,14xi,17alpha,22E)-9,10-secoergosta-5,7,10,22-tetraen-3-ol
(3S,5Z,7E,22E)-9,10-secoergosta-5,7,10(19),22-tetraen-3-ol
(3S,5Z,7E,22E)-9,10-secoergosta-5,7,10,22-tetraen-3-ol
(3beta,5Z,7E,22E)-9,10-secoergosta-5,7,10(19),22-tetraen-3-ol
(3beta,5Z,7e,22e)-9,10-Secoergosta-5,7,10(19),22-tetraen-3-ol
(5E,7E,22E)-9,10-Secoergosta-5,7,10,22-tetraen-3-ol
(5Z,7E,22E)-(3S)-9,10-seco-5,7,10(19),22-ergostatetraen-3-ol
(5Z,7E,22E)-(3S)-9,10-secoergosta-5,7,10(19),22-tetraen-3-ol
(5Z,7e,22e)-(3S)-9,10-Seco-5,7,10(19),22-ergostatetraen-3-ol
(5Z,7e,22e)-(3S)-9,10-Secoergosta-5,7,10(19),22-tetraen-3-ol
22-Tetraen 3beta 9,10,Secoergosta-5,7,10(19)-ol
31316-19-5
4-Methylene-3-[2-[tetrahydro-7a-methyl-1-(1,4,5-trimethyl-2-hexenyl)-4(3aH)-indanylidene]ethylidene]-Cyclohexanol
47768_SUPELCO
50-14-6
7489-18-1
7E677DC1-E1C4-4FC5-8F4A-BCE1857F7E87
8017-28-5
9,10,Secoergosta-5,7,10(19),22-tetraen 3.beta.-ol
9,10-Seco(5Z,7E,22E)-5,7,10(19),22-ergostatetraen-3-ol
9,10-Secoergosta-5,7,10(19),22-tetraen-3-beta-ol
9,10-Secoergosta-5,7,10(19),22-tetraen-3b-ol
95220_FLUKA
95220_SIGMA
AC-1355
AC1L1FIE
AC1NQXLH
AC1NS4DE
AC1NS9GI
AC1NSSVD
AC1NWAM3
AC1O5EDK
AC1O6WAM
ACon1_002187
Activated ergosterol
BPBio1_000418
BSPBio_000380
BSPBio_001974
Buco-D
C05441
C28H44O
CALCIFEROL IN A GELATIN MATRIX
CALCIFEROL, U.S.P.
CHEBI:28934
CHEMBL1536
CID11003810
CID3249
CID5280793
CID5315257
CID5353610
CID5356615
CID5702050
CID6432478
CID6536972
Calciferol
Calciferol (TN)
Calciferol (vitamin D2)
Calciferolum
Calciferon 2
Condacaps
Condocaps
Condol
Crtron
Crystallina
D-Arthin
D-Tracetten
D00187
DB00153
Daral
Davitamon D
Davitin
De-rat concentrate
Decaps
Dee-Osterol
Dee-Ron
Dee-Ronal
Dee-Roual
Deltalin
Deratol
Detalup
Diactol
Divit urto
Doral
Drisdol
Drisdol (TN)
E5750_SIGMA
EINECS 200-014-9
Ercalciol
Ergocalciferol
Ergocalciferol (D2)
Ergocalciferol (JP15/USP)
Ergocalciferol [INN:BAN:JAN]
Ergocalciferol oil
Ergocalciferol: Vitamin D
 
Ergocalciferolo
Ergocalciferolo [DCIT]
Ergocalciferols
Ergocalciferolum
Ergocalciferolum [INN-Latin]
Ergorone
Ergosterol activated
Ergosterol irradiated
Ergosterol, irradiated
Ertron
Fortodyl
Geltabs
Geltabs Vitamin D
HMS1920K20
HMS2091B19
HMS502I07
HSDB 819
Haliver
Hi-Deratol
Hyperkil
I05-0022
IDI1_000805
Infron
Irradiated ergosta-5,7,22-trien-3-beta-ol
Irradiated ergosta-5,7,22-trien-3.beta.-ol
Irradiated ergosta-5,7,22-trien-3beta-ol
Irradiated ergosterol
LMST03010001
LMST03010014
LS-3228
MEGxm0_000466
MLS001332467
MLS001332468
Metadee
Mina D2
MolPort-001-740-057
MolPort-001-793-930
MolPort-002-526-645
MolPort-003-666-178
MolPort-006-822-629
Mulsiferol
Mykostin
NCGC00142497-01
NCGC00179579-01
NCGC00179579-02
NSC 62792
NSC62792
Novovitamin-D
Oleovitamin D
Oleovitamin D, Synthetic
Oleovitamin D2
Osteil
Ostelin
Prestwick3_000420
Prestwick_554
Radiostol
Radstein
Radsterin
Rodine C
Rodinec
SMR000857106
SPECTRUM1500276
ST057150
STOCK1N-53397
Shock-ferol
Shock-ferol sterogyl
Sorex C.R
Sorex C.R.
Spectrum5_000666
Sterogyl
Synthetic Vitamin D
UNII-VS041H42XC
Uvesterol D
Uvesterol-D
VITAMIN D2
VITAMIN D2 WATER DISPERSABLE U.S.P.
VITAMIN_D2
Vigantol
Vio D
Vio-D
Viostdrol
Viosterol
Viosterol in Oil
Vitamin D2
Vitamin- D2
Vitamin-?D2
Vitamina D2
Vitavel-D
WLN: L56 FYTJ A1 BY1&1U1Y1&Y1&1 FU2U- BL6YYTJ AU1 DQ
ZINC04474571
ZINC04629876
beta-Ol
bmse000510
component of Geltabs Vitamin D
delta-Arthin
delta-Tracetten
ergocalciferol
vitamin d-2
2Hormone AntagonistsPhase 3, Phase 1, Phase 213180
3Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 3, Phase 1, Phase 213168
4HormonesPhase 3, Phase 1, Phase 214415
5Bone Density Conservation AgentsPhase 33376
6VitaminsPhase 35282
7MitogensPhase 3, Phase 2, Phase 11617
8Trace ElementsPhase 36001
9vitamin dPhase 31724
10MicronutrientsPhase 36001
11ErgocalciferolsPhase 31281
12ImmunoglobulinsPhase 3, Phase 26394
13Antibodies, MonoclonalPhase 3, Phase 24039
14Immunoglobulin GPhase 3, Phase 2275
15AntibodiesPhase 3, Phase 26394
16CalciferolNutraceuticalPhase 31383
17Vitamin D2NutraceuticalPhase 31281
18potassium phosphatePhase 1, Phase 211
19Calcium, DietaryPhase 1, Phase 25713
20Phosphorus SupplementNutraceuticalPhase 1, Phase 24
21Cinacalcet HydrochloridePhase 171
22Calcimimetic AgentsPhase 171
23
Salmon Calcitoninapproved, investigational9547931-85-116129616
Synonyms:
135506-95-5
47931-85-1
Astronin
Biocalcin
Bionocalcin
C028815
C06865
C145H239N43O48S2
CALCITONIN, SALMON
Cadens
Calciben
Calcihexal
Calcimar
Calcimar (TN)
Calcimonta
Calcinil
Calcioton
Calcitonin (Salmon Synthetic)
Calcitonin (salmon)
Calcitonin 1 precursor
Calcitonin Salmon
Calcitonin [USAN:INN:BAN:JAN]
Calcitonin salmon
Calcitonin salmon (USAN/INN)
Calcitonin salmon (synthesis)
Calcitonin salmon (synthesis) (JAN)
Calcitonin salmon recombinant
Calcitonin vom lachs
Calcitonin, salmar
Calcitonin, salmon
Calcitonin, salmon, for bioassay
Calcitonin,salmon
Calcitonin-salmon
Calcitonina
Calcitonine de saumon
Calcitoran
Calco
Calogen
Calsynar
Calsynar Lyo L
Caltine
Casalm
Catonin
Cibacalcin
Cibacalcine
Citonina
 
D00249
EINECS 256-342-8
Eptacalcin
Forcaltonin
Fortical
Fortical (TN)
Ipocalcin
Isi-calcin
Kalsimin
Karil
LS-48624
Miacalcic
Miacalcin
Miacalcin (TN)
Miracalcic
Oseototal
Osseocalcina
Osteobion
Osteovis
Ostosalm
Ostostabil
Porostenina
Prontocalcin
Quosten
Riostin
Rulicalcin
Salcat
Salcatonin
Salcatyn
Salmocalcin
Salmofar
Salmon calcitonin
Salmon calcitonin I
Salmon calcitonin-(I-32)
Salmotonin
Sical
Stalcin
Staporos
Steocin
TZ-CT
Thyrocalcitonin (salmon)
Tonocalcin
UNII-7SFC6U2VI5
Ucecal
recombinant salmon calcitonin
salmon calcitonin (1-32)
synthetic salmon calcitonin
24
Ironapproved11657439-89-623925
Synonyms:
02583_FLUKA
12310_ALDRICH
12310_RIEDEL
129048-51-7
14067-02-8
161135-39-3
190454-13-8
195161-83-2
199281-22-6
209309_ALDRICH
209309_SIAL
255637_ALDRICH
266213_ALDRICH
266256_ALDRICH
267945_ALDRICH
267953_ALDRICH
26Fe
338141_ALDRICH
356808_ALDRICH
356824_ALDRICH
356832_ALDRICH
39344-71-3
3ZhP
413054_ALDRICH
443783-52-6
44890_ALDRICH
44890_FLUKA
675141-17-0
70884-35-4
73135-38-3
7439-89-6
8011-79-8
8053-60-9
AC1L2N38
ATW 230
ATW 432
Ancor B
Ancor en 80/150
Armco iron
Atomel 28
Atomel 300M200
Atomel 500M
Atomel 95
Atomiron 44MR
Atomiron 5M
Atomiron AFP 25
Atomiron AFP 5
C00023
C3518_SIAL
C3518_SIGMA
CCRIS 1580
CHEBI:18248
CID23925
Carbonyl iron
Copy Powder CS 105-175
D007501
DB01592
DSP 1000
DSP 128B
DSP 135
DSP 135C
DSP 138
Diseases (animal), iron overload
Diseases, iron overload
EF 1000
EF 250
EFV 200/300
EFV 250
EFV 250/400
EINECS 231-096-4
 
Ed-In-Sol
Eisen
Electrolytic iron
F 60 (metal)
FE
FT 3 (element)
Fe
Fe-40
Fe1+
Feronate
Ferretts
Ferro-Caps
Ferro-Time
Ferrousal
Ferrovac E
Ferrum
Ferrum metallicum
GS 6
HF 2 (element)
HL (iron)
HQ (metal)
HS (iron)
HS 4849
HSDB 604
Hemocyte
Hierro
Hoeganaes ATW 230
Hoeganaes EH
IRMM524A_FLUKA
IRMM524B_FLUKA
IRON
Iron (Fe)
Iron (Fe1+)
Iron ion (Fe+)
Iron ion(1+)
Iron monocation
Iron powder
Iron standard for AAS
Iron(1+)
Iron(1+) ion
Iron(III) nitrate solution
Iron, carbonyl
Iron, electrolytic
Iron, elemental
Iron, ion (Fe1+)
Iron, ion (Fe1+) (8CI,9CI)
Iron, reduced
LOHA
LS-3196
MolPort-003-925-001
NC 100
PZh-1M3
PZh-2
PZh1M1
PZh2M
PZh2M1
PZh2M2
PZh3
PZh3M
PZh4M
PZhO
Reduced iron
Remko
SUY-B 2
Siderol
UNII-E1UOL152H7
Vitedyn-Slo
Yieronia
fer
ferrous iron
hierro
25
Teriparatideapproved, investigational13752232-67-416133850
Synonyms:
52232-67-4
D06078
Forteo
Forteo (TN)
 
TERIPARATIDE
Teriparatide (USAN/INN)
Teriparatide (genetical recombination)
Teriparatide (genetical recombination) (JAN)
Teriparatide recombinant human
26
Sevelamerapproved7452757-95-6, 152751-57-03085017
Synonyms:
Sevelamer
 
Sevelamero
Sevelamerum
Sévélamer
27
Calcitriolapproved, nutraceutical21032222-06-3134070, 5280453
Synonyms:
(1R,3S)-5-{2-[(1R,3aS,7aR)-1-((R)-5-Hydroxy-1,5-dimethyl-hexyl)-7a-methyl-octahydro-inden-4-ylidene]-ethylidene}-4-methylene-cyclohexane-1,3-diol
(1R,3S,5Z)-5-[(2E)-2-[(1R,3aS,7aR)-1-[(2R)-6-hydroxy-6-methylheptan-2-yl]-7a-methyl-2,3,3a,5,6,7-hexahydro-1H-inden-4-ylidene]ethylidene]-4-methylidenecyclohexane-1,3-diol
(1S,3R,5Z,7E)-9,10-secocholesta-5,7,10(19)-triene-1,3,25-triol
(1S,3R,5Z,7E)-9,10-secocholesta-5,7,10-triene-1,3,25-triol
(1alpha,3beta,5Z,7E)-9,10-secocholesta-5,7,10(19)-triene-1,3,25-triol
(1α,3β,5Z,7E)-9,10-secocholesta-5,7,10(19)-triene-1,3,25-triol
(3b,5Z,7E)-9,10-Secocholesta-5,7,10(19)-trienetriol
(5Z,7E)-(1S,3R)-9,10-secocholesta-5,7,10(19)-triene-1,3,25-triol
(5Z,7E)-9,10-Secocholesta-5,7,10(19)-triene-1-alpha,3-beta,25-triol
(5Z,7E)-9,10-Secocholesta-5,7,10(19)-triene-1alpha,3beta,25-triol
1 alpha,25-Dihydroxyvitamin D3
1,25 (OH)2 D3
1,25 Dihydroxycholecalciferol
1,25(OH)2-20epi-D3
1,25(OH)2D3 & CD4
1,25(OH2)D3
1,25-(OH)2-D3
1,25-(OH)2D3
1,25-DHCC
1,25-DIHYDROXYCHOLECALCIFEROL
1,25-Dihydroxycholecalciferol
1,25-Dihydroxycholecaliferol
1,25-Dihydroxyvitamin D
1,25-Dihydroxyvitamin D3
1,25-dihydroxy vitamin D3
1,25-dihydroxy-20-epi-Vitamin D3
1,25-dihydroxycholecalciferol
1,25D3
1-alpha,-1,25-Dihydroxyvitamin D3
1-alpha,25-Dihydroxycholecalciferol
1-alpha,25-Dihydroxyvitamin D3
1-alpha-25-Dihydroxyvitamin D3
1-alpha-25-dihydroxyvitamin D3
1.Alpha.,25-Dihydroxy-26,27-hexadeuterovitamin D3
17936_FLUKA
17936_SIGMA
1a,25-(OH)2D3
1a,25-Dihydroxycholecalciferol
1a,25-Dihydroxyvitamin D3
1alpha,25(OH)2-D3
1alpha,25(OH)2D3
1alpha,25-Dihydroxycholecalciferol
1alpha,25-Dihydroxyvitamin D
1alpha,25-Dihydroxyvitamin D3
1db1
1α,25(OH)2D3
1α,25-dihydroxycholecalciferol
1α,25-dihydroxyvitamin D3
20-epi-1alpha,25-dihydroxycholecaliferol
25-Dihydroxycholecalciferol
32222-06-3
9,10-Seco(5Z,7E)-5,7,10(19)-cholestatriene-1alpha,3beta,25-triol
9,10-Secocholesta-5,7,10(19)-triene-1,3,25-triol, (1.alpha.,3.beta,.5Z,7E)- & CD4
9,10-seco(5Z,7E)-5,7,10(19)-cholestatriene-1alpha, 3beta, 25-triol
AC-1859
AC1NQX1S
Ambap32222-06-3
 
Asentar
BCBcMAP01_000160
BML2-E03
BSPBio_001287
C01673
CCRIS 5522
CD-2027
CHEBI:17823
CHEMBL846
CID5280453
CPD000466393
Calcijex
Calcijex, Silkis, Rocaltrol, Topitriol, Cholecalciferol,Calcitriol
Calcitriol
Calcitriol (JAN/USAN/INN)
Calcitriol [USAN:INN:BAN:JAN]
Calcitriolum
Calcitriolum [INN-Latin]
D00129
D1530_SIGMA
DN 101
DN-101
Decostriol
Dihydroxyvitamin D3
EINECS 250-963-8
HMS1361A09
HMS1791A09
HMS1989A09
HMS2051F06
HMS2089N03
HSDB 3482
IDI1_033757
LMST03020258
LS-53093
MC-1288
MC1288
MLS000759536
MLS001424122
MolPort-002-045-698
NCGC00161327-01
NCGC00161327-04
Ro 21-5535
Ro 215535
Ro-21-5535
Rocaltrol
Rocaltrol (TN)
S1466_Selleck
SAM001246772
SMR000466393
Silkis
Soltriol
Spectrum5_002061
Topitriol
Toptriol
U 49562
Vectical
ZINC03924790
calcitriol
vit D
28
Alfacalcidolapproved, nutraceutical6141294-56-85282181
Synonyms:
(5Z,7e)-9,10-Seco-5,7,10(19)-cholestatrien-1alpha,3beta-diol
1-Hydroxycholecalciferol
1-hydroxycholecalciferol
1alpha-Hydroxy-vitamin D3
 
1alpha-hydroxycholecalciferol
1alpha-hydroxyvitamin D3
9,10-Secocholesta-5,7,10(19)-triene-1alpha,3beta-diol
Alfacalcidolum
Alsiodol
29Neurotransmitter Agents18340
30Respiratory System Agents4997
31Peripheral Nervous System Agents23689
32calcitonin107
33Vasodilator Agents3543
34Calcitonin Gene-Related Peptide95
35Autonomic Agents10150
36Methacholine Chloride91
37Cholinergic Agents3992
38Hematinics1684
39Ferrous gluconate10
40glucocorticoids5103
41Hydroxycholecalciferols129
42Chelating Agents1423
43Iron SupplementNutraceutical180

Interventional clinical trials:

(show all 26)
idNameStatusNCT IDPhase
1The Role Of FGF23, Klotho, And Sclerostin In Kidney Stone FormersUnknown statusNCT01526304Phase 4
2Therapeutic Use of Oral Sodium Phosphate (Z-521) in Primary Hypophosphatemic RicketsCompletedNCT01237288Phase 3
3Effectiveness of Paricalcitol in Reducing Parathyroid Hormone (PTH) Levels in X-linked Hypophosphatemic RicketsCompletedNCT00417612Phase 3
4Efficacy and Safety of KRN23 Versus Oral Phosphate and Active Vitamin D Treatment in Pediatric Patients With X Linked Hypophosphatemia (XLH)RecruitingNCT02915705Phase 3
5Study of KRN23 in Adults With X-linked Hypophosphatemia (XLH)Active, not recruitingNCT02526160Phase 3
6Open Label Study of KRN23 on Osteomalacia in Adults With X-linked Hypophosphatemia (XLH)Active, not recruitingNCT02537431Phase 3
7An Extension Study of KRN23 in Adults With X-Linked HypophosphatemiaCompletedNCT01571596Phase 1, Phase 2
8A Repeated Study of KRN23 in Adults With X-Linked HypophosphatemiaCompletedNCT01340482Phase 1, Phase 2
9Growth Hormone Treatment in Children With Hypophosphatemic RicketsCompletedNCT02720770Phase 1, Phase 2
10Role Of Phosphorus And FGF 23 In Patients With Dent DiseaseRecruitingNCT02016235Phase 1, Phase 2
11Study of KRN23, a Recombinant Fully Human Monoclonal Antibody Against FGF23, in Pediatric Subjects With X-linked Hypophosphatemia (XLH)Active, not recruitingNCT02163577Phase 2
12Study of the Safety, Pharmacodynamics and Efficacy of KRN23 in Children From 1 to 4 Years Old With X-linked Hypophosphatemia (XLH)Active, not recruitingNCT02750618Phase 2
13Long-Term Extension Study of KRN23 in Adult Subjects With X-Linked Hypophosphatemia (XLH)Enrolling by invitationNCT02312687Phase 2
14Effect of Cinacalcet on Parathyroid Hormone Secretion in Children and Adolescents With Hypophosphatemic RicketsUnknown statusNCT00195936Phase 1
15Effects of GH on Body Proportions and Final Height in X-Linked Hypophosphatemic RicketsUnknown statusNCT00473187Phase 1
16A Study of KRN23 in X-linked HypophosphatemiaCompletedNCT00830674Phase 1
17A Study of KRN23 in Subjects With X-linked Hypophosphatemic Rickets/OsteomalaciaCompletedNCT02181764Phase 1
18Cinacalcet for Fibroblast Growth Factor 23 (FGF23)-Mediated Hypophosphatemia (Hypophosphatemic Rickets)TerminatedNCT01748812Phase 1
19Calcimimetics in Hypophosphatemic RicketsUnknown statusNCT00844740
20Calcitonin for Treating X-linked HypophosphatemiaCompletedNCT01652573
21Assessment Of Vitamin D Role In The Pathogenesis Of Asthma In Vitamin D Resistent PatientsCompletedNCT01578824
22Serum FGF-23 and Vitamin D DeficiencyCompletedNCT01102751
23Iron Therapy for Autosomal Dominant Hypophosphatemic Rickets: A Pilot Project.RecruitingNCT02233322
24Observing the Changes of Fibroblast Growth Factor 23 in Patients of Tumor Induced OsteomalaciaRecruitingNCT01660308
25Study of the Diagnostic Value of Stable Calcium Isotope Profiling in Bone and Calcium DisordersRecruitingNCT02252679
26Hypophosphatemic Rickets in NorwayActive, not recruitingNCT01057186

Search NIH Clinical Center for Hypophosphatemic Rickets, X-Linked Dominant


Cochrane evidence based reviews: familial hypophosphatemic rickets

Genetic Tests for Hypophosphatemic Rickets, X-Linked Dominant

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Genetic tests related to Hypophosphatemic Rickets, X-Linked Dominant:

id Genetic test Affiliating Genes
1 Hypophosphatemic Rickets, X-Linked Dominant24 PHEX
2 X-Linked Hypophosphatemia24 PHEX

Anatomical Context for Hypophosphatemic Rickets, X-Linked Dominant

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MalaCards organs/tissues related to Hypophosphatemic Rickets, X-Linked Dominant:

36
Bone, Kidney, Spinal cord

LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Hypophosphatemic Rickets, X-Linked Dominant:
id TissueAnatomical CompartmentCell Relevance
1 KidneyProximal TubuleProximal Tubule Cells Potential therapeutic candidate, affected by disease

Publications for Hypophosphatemic Rickets, X-Linked Dominant

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Variations for Hypophosphatemic Rickets, X-Linked Dominant

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UniProtKB/Swiss-Prot genetic disease variations for Hypophosphatemic Rickets, X-Linked Dominant:

70 (show all 30)
id Symbol AA change Variation ID SNP ID
1PHEXp.Cys77SerVAR_006738
2PHEXp.Cys85TyrVAR_006739rs137853269
3PHEXp.Leu138ProVAR_006740
4PHEXp.Arg166CysVAR_006741rs751230094
5PHEXp.Phe252SerVAR_006742rs267606945
6PHEXp.Met253IleVAR_006743rs267606946
7PHEXp.Pro534LeuVAR_006744
8PHEXp.Gly579ArgVAR_006745
9PHEXp.Gly579ValVAR_006746
10PHEXp.Phe80SerVAR_010616
11PHEXp.Cys85PheVAR_010617
12PHEXp.Cys85ArgVAR_010618
13PHEXp.Ser141ProVAR_010619
14PHEXp.Cys142PheVAR_010620
15PHEXp.Leu160ArgVAR_010621
16PHEXp.Asp237GlyVAR_010622
17PHEXp.Tyr317PheVAR_010623
18PHEXp.Trp530CysVAR_010626
19PHEXp.Leu555ProVAR_010627rs137853270
20PHEXp.Arg567ProVAR_010628
21PHEXp.Ala573AspVAR_010629
22PHEXp.Gln621ArgVAR_010630
23PHEXp.Arg651ProVAR_010631
24PHEXp.Asn680LysVAR_010633
25PHEXp.Cys693TyrVAR_010634
26PHEXp.Ala720ThrVAR_010635
27PHEXp.Phe731TyrVAR_010636
28PHEXp.Cys733SerVAR_010637
29PHEXp.Cys746TrpVAR_010638
30PHEXp.Trp749ArgVAR_010639

Clinvar genetic disease variations for Hypophosphatemic Rickets, X-Linked Dominant:

5 (show all 19)
id Gene Variation Type Significance SNP ID Assembly Location
1PHEXPHEX, 2-BP DEL, 675TCdeletionPathogenic
2PHEXPHEX, IVS1AS, G-A, -1SNVPathogenic
3PHEXPHEX, IVS1AS, G-C, -1SNVPathogenic
4PHEXNM_ 000444.5(PHEX): c.830T> A (p.Leu277Ter)SNVPathogenicrs137853268GRCh37Chr X, 22112198: 22112198
5PHEXNM_ 000444.5(PHEX): c.254G> A (p.Cys85Tyr)SNVPathogenicrs137853269GRCh37Chr X, 22065234: 22065234
6PHEXNM_ 000444.5(PHEX): c.1664T> C (p.Leu555Pro)SNVPathogenicrs137853270GRCh37Chr X, 22231039: 22231039
7PHEXPHEX, A-G, NT-429SNVPathogenic
8PHEXPHEX, IVS7, +1268, G-TSNVPathogenic
9PHEXNM_ 000444.5(PHEX): c.1699C> T (p.Arg567Ter)SNVPathogenicrs137853271GRCh37Chr X, 22231074: 22231074
10PHEXPHEX, IVS4, T-C, +6SNVPathogenic
11PHEXNM_ 000444.5(PHEX): c.1735G> A (p.Gly579Arg)SNVPathogenic/ Likely pathogenicrs875989883GRCh37Chr X, 22237187: 22237187
12PHEXNM_ 000444.5(PHEX): c.67delC (p.Leu23Trpfs)deletionPathogenicrs886043584GRCh38Chr X, 22033072: 22033072
13PHEXNM_ 000444.5(PHEX): c.1404+2T> GSNVLikely pathogenicrs193922454GRCh37Chr X, 22151743: 22151743
14PHEXNM_ 000444.5(PHEX): c.1589G> A (p.Trp530Ter)SNVLikely pathogenicrs193922455GRCh37Chr X, 22208563: 22208563
15PHEXNM_ 000444.5(PHEX): c.1949T> C (p.Leu650Pro)SNVLikely pathogenicrs193922456GRCh37Chr X, 22244609: 22244609
16PHEXNM_ 000444.5(PHEX): c.1999G> T (p.Gly667Ter)SNVLikely pathogenicrs193922457GRCh37Chr X, 22245657: 22245657
17PHEXNM_ 000444.5(PHEX): c.318G> A (p.Trp106Ter)SNVLikely pathogenicrs193922458GRCh37Chr X, 22065298: 22065298
18PHEXNM_ 000444.5(PHEX): c.349+1G> CSNVLikely pathogenicrs193922459GRCh37Chr X, 22065330: 22065330
19PHEXNM_ 000444.5(PHEX): c.884_ 885dupCC (p.Met296Profs)duplicationLikely pathogenicrs193922460GRCh37Chr X, 22115107: 22115108

Expression for genes affiliated with Hypophosphatemic Rickets, X-Linked Dominant

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Search GEO for disease gene expression data for Hypophosphatemic Rickets, X-Linked Dominant.

Pathways for genes affiliated with Hypophosphatemic Rickets, X-Linked Dominant

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GO Terms for genes affiliated with Hypophosphatemic Rickets, X-Linked Dominant

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Cellular components related to Hypophosphatemic Rickets, X-Linked Dominant according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1brush border membraneGO:00315269.5SLC34A1, SLC34A3
2apical plasma membraneGO:00163249.4KL, SLC34A1, SLC34A3

Biological processes related to Hypophosphatemic Rickets, X-Linked Dominant according to GeneCards Suite gene sharing:

(show all 28)
idNameGO IDScoreTop Affiliating Genes
1cellular response to vitamin DGO:007130510.5FGF23, PHEX
2biomineral tissue developmentGO:003121410.5DMP1, PHEX
3response to sodium phosphateGO:190438310.4FGF23, PHEX
4bone mineralizationGO:003028210.3CYP27B1, PHEX
5decidualizationGO:004669710.3CYP27B1, VDR
6response to growth hormoneGO:006041610.2PHEX, SLC34A1
7regulation of bone mineralizationGO:003050010.2CYP27B1, FGF23
8positive regulation of keratinocyte differentiationGO:004561810.2CYP27B1, VDR
9response to magnesium ionGO:003202610.2FGF23, SLC34A1
10phosphate ion transmembrane transportGO:003543510.2SLC34A1, SLC34A3
11phosphate ion transportGO:000681710.2SLC34A1, SLC34A3
12phosphatidylinositol-3-phosphate biosynthetic processGO:003609210.2FGF23, KL
13positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathwayGO:009008010.1FGF23, KL
14response to cadmium ionGO:004668610.1PTH, SLC34A1
15response to lead ionGO:001028810.1PTH, SLC34A1
16response to parathyroid hormoneGO:007110710.1PTH, SLC34A1
17positive regulation of bone mineralizationGO:003050110.0KL, PTH
18calcium ion homeostasisGO:005507410.0CYP27B1, KL
19cellular response to parathyroid hormone stimulusGO:007137410.0FGF23, PHEX, SLC34A1
20cellular protein metabolic processGO:00442679.9DMP1, FGF23, SLC34A1
21positive regulation of vitamin D 24-hydroxylase activityGO:00109809.9CYP27B1, FGF23, VDR
22cellular phosphate ion homeostasisGO:00306439.9FGF23, SLC34A1, SLC34A3
23vitamin D catabolic processGO:00423699.9CYP27B1, FGF23
24sodium-dependent phosphate transportGO:00443419.8SLC34A1, SLC34A3
25response to vitamin DGO:00332809.8CYP27B1, PHEX, PTH
26skeletal system developmentGO:00015019.7PHEX, PTH, VDR
27vitamin D metabolic processGO:00423599.6CYP27B1, FGF23
28phosphate ion homeostasisGO:00550629.5FGF23, SFRP4, SLC34A1

Molecular functions related to Hypophosphatemic Rickets, X-Linked Dominant according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
11-phosphatidylinositol-3-kinase activityGO:001630310.0FGF23, KL
2fibroblast growth factor receptor bindingGO:00051049.8FGF23, KL
3sodium-dependent phosphate transmembrane transporter activityGO:00153219.8SLC34A1, SLC34A3
4sodium:phosphate symporter activityGO:00054369.5SLC34A1, SLC34A3

Sources for Hypophosphatemic Rickets, X-Linked Dominant

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet