MCID: HYP609
MIFTS: 32

Hypophosphatemic Rickets, X-Linked Dominant 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 49 11 45 22 67 32 65
X-Linked Hypophosphatemia 32 21 45 22 51
X-Linked Hypophosphatemic Rickets 21 45 22 51
Xlhr 21 22 67
Xlh 45 51 67
Vitamin D-Resistant Rickets, X-Linked 45 65
X-Linked Vitamin D-Resistant Rickets 21 22
Hpdr 45 67
Hypophosphatemic Vitamin D-Resistant Rickets 67
 
Hypophophatemic Vitamin D-Resistant Rickets 45
Vitamin D-Resistant Rickets X-Linked 67
Rickets, X-Linked Hypophosphatemic 65
Familial Hypophosphatemic Rickets 65
Vitamin D-Resistant Rickets 65
Hypophosphatemia X-Linked 67
Hypophophatemia, X-Linked 45
Hyp 67

Characteristics:

Orphanet epidemiological data:

51
x-linked hypophosphatemia:
Inheritance: X-linked dominant; Age of onset: Childhood; Age of death: normal life expectancy

HPO:

61
hypophosphatemic rickets, x-linked dominant:
Onset and clinical course: phenotypic variability
Inheritance: x-linked dominant inheritance


Classifications:



External Ids:

OMIM49 307800
Orphanet51 89936
ICD10 via Orphanet28 E83.3
MedGen34 C0733682
MeSH36 D053098
UMLS65 C3536984, C3536983, C2363065

Summaries for Hypophosphatemic Rickets, X-Linked Dominant

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NIH Rare Diseases:45 X-linked hypophosphatemia (xlh) is an inherited metabolic disorder characterized by low phosphate levels in the blood that can lead to softening and weakening of bones (rickets) as a result of improper processing of phosphate in the kidneys leading to phosphate wasting. xlh is usually diagnosed in childhood, and clinical features include bone abnormalities such as bowed or bent legs, short stature, bone pain, and spontaneous dental abscesses. 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 phosphate supplementation along with high-dose calcitriol (active vitamin d) and may also included growth hormones supplementation, corrective surgery, and dental treatment. with consistent treatment, prognosis is typically good, though growth rate may still be low.   last updated: 3/7/2016

MalaCards based summary: Hypophosphatemic Rickets, X-Linked Dominant, also known as x-linked hypophosphatemia, is related to x-linked hypophosphatemic rickets and hereditary hypophosphatemic rickets, and has symptoms including premature loss of teeth, genu varum and bone pain. An important gene associated with Hypophosphatemic Rickets, X-Linked Dominant is PHEX (Phosphate Regulating Endopeptidase Homolog, X-Linked). Affiliated tissues include bone, kidney and spinal cord.

OMIM:49 X-linked dominant hypophosphatemic rickets, although variable in its expressivity, is characterized by rickets with... (307800) more...

UniProtKB/Swiss-Prot:67 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.

GeneReviews summary for NBK83985

Related Diseases for Hypophosphatemic Rickets, X-Linked Dominant

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



Diseases related to hypophosphatemic rickets, x-linked dominant

Symptoms for Hypophosphatemic Rickets, X-Linked Dominant

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Symptoms by clinical synopsis from OMIM:

307800

Clinical features from OMIM:

307800

Symptoms:

 51 (show all 15)
  • enamel anomaly
  • abnormal erosion/resorption of teeth/odontolysis
  • genu varum
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • bone pain
  • metaphyseal anomaly
  • joint/articular deformation
  • hypophosphatemia
  • x-linked dominant inheritance
  • dense/thickened skull/calvarium/cranial/facial hyperostosis
  • osteoarthritis
  • enthesis anomaly/inflammation/enthesitis/enthesopathy
  • short stature/dwarfism/nanism
  • hearing loss/hypoacusia/deafness
  • mutiple fractures/bone fragility

HPO human phenotypes related to Hypophosphatemic Rickets, X-Linked Dominant:

(show all 35)
id Description Frequency HPO Source Accession
1 premature loss of teeth hallmark (90%) HP:0006480
2 genu varum hallmark (90%) HP:0002970
3 bone pain hallmark (90%) HP:0002653
4 abnormality of the metaphyses hallmark (90%) HP:0000944
5 abnormality of dental enamel hallmark (90%) HP:0000682
6 enthesitis typical (50%) HP:0100686
7 craniofacial hyperostosis typical (50%) HP:0004493
8 short stature typical (50%) HP:0004322
9 osteoarthritis typical (50%) HP:0002758
10 recurrent fractures occasional (7.5%) HP:0002757
11 hearing impairment occasional (7.5%) HP:0000365
12 fibular bowing HP:0010502
13 flattening of the talar dome HP:0008144
14 shortening of the talar neck HP:0008117
15 trapezoidal distal femoral condyles HP:0006432
16 hypomineralization of enamel HP:0006285
17 hypophosphatemic rickets HP:0004912
18 short stature HP:0004322
19 spinal canal stenosis HP:0003416
20 elevated circulating parathyroid hormone (pth) level HP:0003165
21 elevated alkaline phosphatase HP:0003155
22 metaphyseal irregularity HP:0003025
23 tibial bowing HP:0002982
24 femoral bowing HP:0002980
25 bowing of the legs HP:0002979
26 arthralgia HP:0002829
27 osteoarthritis HP:0002758
28 osteomalacia HP:0002749
29 bone pain HP:0002653
30 abnormality of pelvic girdle bone morphology HP:0002644
31 spinal cord compression HP:0002176
32 hypophosphatemia HP:0002148
33 frontal bossing HP:0002007
34 renal tubular dysfunction HP:0000124
35 renal phosphate wasting HP:0000117

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 41)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Contraceptives, OralPhase 33734
2VitaminsPhase 33857
3vitamin dPhase 31524
4HormonesPhase 3, Phase 1, Phase 211748
5MitogensPhase 3, Phase 2, Phase 11386
6ImmunoglobulinsPhase 3, Phase 24477
7Antibodies, MonoclonalPhase 3, Phase 22413
8Immunoglobulin GPhase 3, Phase 2146
9AntibodiesPhase 3, Phase 24477
10Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 1, Phase 29988
11Hormone AntagonistsPhase 1, Phase 210002
12potassium phosphatePhase 1, Phase 210
13Calcium, DietaryPhase 1, Phase 24678
14Phosphorus SupplementNutraceuticalPhase 1, Phase 23
15Cinacalcet HydrochloridePhase 169
16Calcimimetic AgentsPhase 159
17
Salmon Calcitoninapproved, investigational5047931-85-116129616
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 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
18
Ironapproved10217439-89-623925
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
Dexiron
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
F 60 (metal)
FE
FT 3 (element)
Fe
Fe-40
Fe1+
Feraheme
Feronate
Ferretts
Ferrlecit
Ferro-Caps
Ferro-Time
Ferrousal
Ferrovac E
Ferrum
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
Infufer
Iron
Iron (Fe)
Iron (Fe1+)
Iron ion (Fe+)
Iron ion(1+)
Iron monocation
Iron standard for AAS
Iron(1+)
Iron(1+) ion
Iron(III) nitrate solution
Iron, elemental
Iron, ion (Fe1+)
Iron, ion (Fe1+) (8CI,9CI)
LOHA
LS-3196
MolPort-003-925-001
NC 100
PZh-1M3
PZh-2
PZh1M1
PZh2M
PZh2M1
PZh2M2
PZh3
PZh3M
PZh4M
PZhO
Remko
SUY-B 2
Siderol
UNII-E1UOL152H7
Venofer
Vitedyn-Slo
Yieronia
fer
ferrous ascorbate
ferrous fumarate
ferrous gluconate
ferrous glycine sulfate
ferrous iron
ferrous succinate
ferrous sulfate
hierro
19
Teriparatideapproved, investigational12952232-67-416133850
Synonyms:
52232-67-4
D06078
Forteo
 
Forteo (TN)
TERIPARATIDE
Teriparatide (USAN/INN)
Teriparatide (genetical recombination)
Teriparatide (genetical recombination) (JAN)
20
Sevelamerapproved72152751-57-03085017
Synonyms:
Renagel
Renvela
Sevelamer
Sevelamer Carbonate
 
Sevelamero
Sevelamerum
Sévélamer
sevelamer carbonate
sevelamer hydrochloride
21
Ergocalciferolapproved, nutraceutical92350-14-65280793
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 D
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
22
Alfacalcidolapproved, nutraceutical4341294-56-85282181
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
23
Calcitriolapproved, nutraceutical16132222-06-3134070, 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
(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
(1alpha,3beta,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
(5Z,7e)-(1S,3R)-9,10-Secocholesta-5,7,10(19)-triene-1,3,25-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
5-{2-[1-(5-hydroxy-1,5-dimethyl-hexyl)-7a-methyl-octahydro-inden-4-ylidene]-ethylidene}-4-methylene-cyclohexane-1,3-diol
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
24Peripheral Nervous System Agents18510
25Respiratory System Agents3931
26Trace Elements3900
27Neurotransmitter Agents14795
28Vasodilator Agents2926
29Micronutrients3901
30Calcitonin Gene-Related Peptide50
31calcitonin50
32Bone Density Conservation Agents2600
33Cholinergic Agents3243
34Ergocalciferols923
35Methacholine Chloride79
36Ferrous gluconate11
37glucocorticoids3896
38Hydroxycholecalciferols92
39CalciferolNutraceutical1074
40Vitamin D2Nutraceutical923
41Iron SupplementNutraceutical159

Interventional clinical trials:

(show all 23)
idNameStatusNCT IDPhase
1The Role Of FGF23, Klotho, And Sclerostin In Kidney Stone FormersRecruitingNCT01526304Phase 4
2Effectiveness of Paricalcitol in Reducing Parathyroid Hormone (PTH) Levels in X-linked Hypophosphatemic RicketsCompletedNCT00417612Phase 3
3Therapeutic Use of Oral Sodium Phosphate (Z-521) in Primary Hypophosphatemic RicketsCompletedNCT01237288Phase 3
4Study of KRN23 in Adults With X-linked Hypophosphatemia (XLH)RecruitingNCT02526160Phase 3
5Open Label Study of KRN23 on Osteomalacia in Adults With X-linked Hypophosphatemia (XLH)RecruitingNCT02537431Phase 3
6A Repeated Study of KRN23 in Adults With X-Linked HypophosphatemiaCompletedNCT01340482Phase 1, Phase 2
7An Extension Study of KRN23 in Adults With X-Linked HypophosphatemiaCompletedNCT01571596Phase 1, Phase 2
8Growth Hormone Treatment in Children With Hypophosphatemic RicketsCompletedNCT02720770Phase 1, Phase 2
9Study of the Safety, Pharmacodynamics and Efficacy of KRN23 in Children From 1 to 4 Years Old With X-linked Hypophosphatemia (XLH)RecruitingNCT02750618Phase 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
12Long-Term Extension Study of KRN23 in Adult Subjects With X-Linked Hypophosphatemia (XLH)Enrolling by invitationNCT02312687Phase 2
13A Study of KRN23 in X-linked HypophosphatemiaCompletedNCT00830674Phase 1
14A Study of KRN23 in Subjects With X-linked Hypophosphatemic Rickets/OsteomalaciaCompletedNCT02181764Phase 1
15Effect of Cinacalcet on Parathyroid Hormone Secretion in Children and Adolescents With Hypophosphatemic RicketsRecruitingNCT00195936Phase 1
16Effects of GH on Body Proportions and Final Height in X-Linked Hypophosphatemic RicketsActive, not recruitingNCT00473187Phase 1
17Cinacalcet for Fibroblast Growth Factor 23 (FGF23)-Mediated Hypophosphatemia (Hypophosphatemic Rickets)TerminatedNCT01748812Phase 1
18Calcitonin for Treating X-linked HypophosphatemiaCompletedNCT01652573
19Assessment Of Vitamin D Role In The Pathogenesis Of Asthma In Vitamin D Resistent PatientsCompletedNCT01578824
20Iron Therapy for Autosomal Dominant Hypophosphatemic Rickets: A Pilot Project.RecruitingNCT02233322
21Study of the Diagnostic Value of Stable Calcium Isotope Profiling in Bone and Calcium DisordersRecruitingNCT02252679
22Hypophosphatemic Rickets in NorwayActive, not recruitingNCT01057186
23Calcimimetics in Hypophosphatemic RicketsEnrolling by invitationNCT00844740

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

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 Dominant22 PHEX
2 X-Linked Hypophosphatemia22 PHEX

Anatomical Context for Hypophosphatemic Rickets, X-Linked Dominant

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

33
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

Animal Models for Hypophosphatemic Rickets, X-Linked Dominant or affiliated genes

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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:

67 (show all 30)
id Symbol AA change Variation ID SNP ID
1PHEXp.Cys77SerVAR_006738
2PHEXp.Cys85TyrVAR_006739
3PHEXp.Leu138ProVAR_006740
4PHEXp.Arg166CysVAR_006741
5PHEXp.Phe252SerVAR_006742
6PHEXp.Met253IleVAR_006743
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_010627
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 18)
id Gene Variation Type Significance SNP ID Assembly Location
1PHEXPHEX, 2-BP DEL, 675TCdeletionPathogenic
2PHEXPHEX, IVS1AS, G-A, -1single nucleotide variantPathogenic
3PHEXPHEX, IVS1AS, G-C, -1single nucleotide variantPathogenic
4PHEXNM_000444.5(PHEX): c.830T> A (p.Leu277Ter)single nucleotide variantPathogenicrs137853268GRCh37Chr X, 22112198: 22112198
5PHEXNM_000444.5(PHEX): c.254G> A (p.Cys85Tyr)single nucleotide variantPathogenicrs137853269GRCh37Chr X, 22065234: 22065234
6PHEXNM_000444.5(PHEX): c.755T> C (p.Phe252Ser)single nucleotide variantPathogenicrs267606945GRCh37Chr X, 22112123: 22112123
7PHEXNM_000444.5(PHEX): c.1664T> C (p.Leu555Pro)single nucleotide variantPathogenicrs137853270GRCh37Chr X, 22231039: 22231039
8PHEXPHEX, A-G, NT-429single nucleotide variantPathogenic
9PHEXPHEX, IVS7, +1268, G-Tsingle nucleotide variantPathogenic
10PHEXNM_000444.5(PHEX): c.1699C> T (p.Arg567Ter)single nucleotide variantPathogenicrs137853271GRCh37Chr X, 22231074: 22231074
11PHEXPHEX, IVS4, T-C, +6single nucleotide variantPathogenic
12PHEXNM_000444.5(PHEX): c.1404+2T> Gsingle nucleotide variantLikely pathogenicrs193922454GRCh37Chr X, 22151743: 22151743
13PHEXNM_000444.5(PHEX): c.1589G> A (p.Trp530Ter)single nucleotide variantLikely pathogenicrs193922455GRCh37Chr X, 22208563: 22208563
14NM_000444.5(PHEX): c.1949T> C (p.Leu650Pro)single nucleotide variantLikely pathogenicrs193922456GRCh37Chr X, 22244609: 22244609
15NM_000444.5(PHEX): c.1999G> T (p.Gly667Ter)single nucleotide variantLikely pathogenicrs193922457GRCh37Chr X, 22245657: 22245657
16PHEXNM_000444.5(PHEX): c.318G> A (p.Trp106Ter)single nucleotide variantLikely pathogenicrs193922458GRCh37Chr X, 22065298: 22065298
17PHEXNM_000444.5(PHEX): c.349+1G> Csingle nucleotide variantLikely pathogenicrs193922459GRCh37Chr X, 22065330: 22065330
18PHEXNM_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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Sources for Hypophosphatemic Rickets, X-Linked Dominant

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet