MCID: HYP609
MIFTS: 33

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 50 46 23 68 12 33 66
X-Linked Hypophosphatemia 33 22 46 23 52
X-Linked Hypophosphatemic Rickets 46 23 52
Xlh 46 52 68
Vitamin D-Resistant Rickets, X-Linked 46 66
Hpdr 46 68
Xlhr 23 68
Hypophosphatemic Vitamin D-Resistant Rickets 68
 
Hypophophatemic Vitamin D-Resistant Rickets 46
X-Linked Vitamin D-Resistant Rickets 23
Vitamin D-Resistant Rickets X-Linked 68
Rickets, X-Linked Hypophosphatemic 66
Familial Hypophosphatemic Rickets 66
Hypophophatemia, X-Linked 46
Hypophosphatemia X-Linked 68
Hyp 68

Characteristics:

Orphanet epidemiological data:

52
x-linked hypophosphatemia:
Inheritance: X-linked dominant; Age of onset: Childhood; Age of death: normal life expectancy

HPO:

62
hypophosphatemic rickets, x-linked dominant:
Inheritance: x-linked dominant inheritance
Onset and clinical course: phenotypic variability


Classifications:



External Ids:

OMIM50 307800
Orphanet52 ORPHA89936
ICD10 via Orphanet29 E83.3
MedGen35 C0733682
MeSH37 D053098

Summaries for Hypophosphatemic Rickets, X-Linked Dominant

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NIH Rare Diseases:46 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 hypophosphatemia, is related to x-linked hypophosphatemic rickets and hereditary hypophosphatemic rickets, and has symptoms including abnormality of dental enamel, abnormality of the metaphyses 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:50 X-linked dominant hypophosphatemic rickets, although variable in its expressivity, is characterized by rickets with... (307800) more...

UniProtKB/Swiss-Prot:68 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.

Related Diseases for Hypophosphatemic Rickets, X-Linked Dominant

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Diseases in the X-Linked Hypophosphatemic Rickets family:

hypophosphatemic rickets, x-linked dominant

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

idRelated DiseaseScoreTop Affiliating Genes
1x-linked hypophosphatemic rickets11.5
2hereditary hypophosphatemic rickets11.4
3hypophosphatemia10.1
4rickets10.0
5hypophosphatemic rickets, autosomal dominant10.0
6enthesopathy10.0

Graphical network of 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:

 52 (show all 17)
  • abnormality of the teeth
  • hearing impairment
  • abnormality of dental enamel
  • rachitic rosary
  • abnormality of the metaphyses
  • craniosynostosis
  • joint dislocation
  • hypophosphatemia
  • bone pain
  • rickets
  • osteomalacia
  • recurrent fractures
  • osteoarthritis
  • genu varum
  • bowing of the legs
  • short stature
  • enthesitis

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

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

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


arthralgia, bone pain

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 12)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1vitamin dPhase 31607
2
ErgocalciferolNutraceuticalPhase 3121150-14-65280793
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
3potassium phosphatePhase 1, Phase 211
4CALCITONIN GENE-RELATED PEPTIDE92
5
Salmon Calcitonin9247931-85-116129616
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
6calcitonin104
7glucocorticoids4756
8
Teriparatide13052232-67-416133850
Synonyms:
52232-67-4
D06078
Forteo
Forteo (TN)
 
TERIPARATIDE
Teriparatide (USAN/INN)
Teriparatide (genetical recombination)
Teriparatide (genetical recombination) (JAN)
Teriparatide recombinant human
9
Iron10807439-89-623925
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
10
Sevelamer7352757-95-6, 152751-57-03085017
Synonyms:
Sevelamer
 
Sevelamero
Sevelamerum
Sévélamer
11
Alfacalcidol5041294-56-85282181
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
12
Calcitriol19432222-06-3134070, 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

Interventional clinical trials:

(show all 24)
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
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
14A Study of KRN23 in X-linked HypophosphatemiaCompletedNCT00830674Phase 1
15A Study of KRN23 in Subjects With X-linked Hypophosphatemic Rickets/OsteomalaciaCompletedNCT02181764Phase 1
16Effect of Cinacalcet on Parathyroid Hormone Secretion in Children and Adolescents With Hypophosphatemic RicketsRecruitingNCT00195936Phase 1
17Effects of GH on Body Proportions and Final Height in X-Linked Hypophosphatemic RicketsActive, not recruitingNCT00473187Phase 1
18Cinacalcet for Fibroblast Growth Factor 23 (FGF23)-Mediated Hypophosphatemia (Hypophosphatemic Rickets)TerminatedNCT01748812Phase 1
19Calcitonin for Treating X-linked HypophosphatemiaCompletedNCT01652573
20Assessment Of Vitamin D Role In The Pathogenesis Of Asthma In Vitamin D Resistent PatientsCompletedNCT01578824
21Iron Therapy for Autosomal Dominant Hypophosphatemic Rickets: A Pilot Project.RecruitingNCT02233322
22Study of the Diagnostic Value of Stable Calcium Isotope Profiling in Bone and Calcium DisordersRecruitingNCT02252679
23Hypophosphatemic Rickets in NorwayActive, not recruitingNCT01057186
24Calcimimetics 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 Dominant23 PHEX
2 X-Linked Hypophosphatemia23 PHEX

Anatomical Context for Hypophosphatemic Rickets, X-Linked Dominant

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

34
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:

68 (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_006742
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 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
6NM_000444.5(PHEX): c.1664T> C (p.Leu555Pro)single nucleotide variantPathogenicrs137853270GRCh37Chr X, 22231039: 22231039
7PHEXPHEX, A-G, NT-429single nucleotide variantPathogenic
8PHEXPHEX, IVS7, +1268, G-Tsingle nucleotide variantPathogenic
9NM_000444.5(PHEX): c.1699C> T (p.Arg567Ter)single nucleotide variantPathogenicrs137853271GRCh37Chr X, 22231074: 22231074
10PHEXPHEX, IVS4, T-C, +6single nucleotide variantPathogenic
11NM_000444.5(PHEX): c.1735G> A (p.Gly579Arg)single nucleotide variantLikely pathogenicrs875989883GRCh37Chr X, 22237187: 22237187
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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet