XLRHR
MCID: HYP798
MIFTS: 62

Hypophosphatemic Rickets, X-Linked Recessive (XLRHR)

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

Aliases & Classifications for Hypophosphatemic Rickets, X-Linked Recessive

MalaCards integrated aliases for Hypophosphatemic Rickets, X-Linked Recessive:

Name: Hypophosphatemic Rickets, X-Linked Recessive 57 75 29 6
Hypophosphatemic Rickets 57 76 53 37 29 13 6 73
X-Linked Recessive Hypophosphatemic Rickets 12 37 15
Rickets, Hypophosphatemic, X-Linked Recessive 40
Hypophosphatemic Rickets Disorders 29
Familial Hypophosphatemic Rickets 73
Rickets Hypophosphatemic 55
Xlrhr 75

Characteristics:

OMIM:

57
Inheritance:
x-linked recessive

Miscellaneous:
variable phenotypic severity
female carriers may have asymptomatic hypercalciuria or hypophosphatemia only
part of 'dent disease complex' (see )


HPO:

32
hypophosphatemic rickets, x-linked recessive:
Onset and clinical course phenotypic variability
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Hypophosphatemic Rickets, X-Linked Recessive

NIH Rare Diseases : 53 Hypophosphatemic rickets (previously called vitamin D-resistant rickets) is a disorder in which the bones become painfully soft and bend easily, due to low levels of phosphate in the blood. Symptoms usually begin in early childhood and can range in severity. Severe forms may cause bowing of the legs and other bone deformities; bone pain; joint pain; poor bone growth; and short stature. In some affected babies, the space between the skull bones closes too soon (craniosynostosis). This sometimes results in developmental abnormalities. Hypophosphatemic rickets is almost always inherited and may be caused by changes (mutations) in any of several genes. There are several forms which are distinguished by their genetic cause and pattern of inheritance. Most commonly hypophosphatemic rickets is due to changes in the PHEX gene and inherited in an X-linked dominant manner (X-linked hypophosphatemia). Less commonly it is inherited in an X-linked recessive manner (often called Dent disease); autosomal dominant manner; or autosomal recessive manner. Treatment involves taking phosphate and calcitriol in order to raise phosphate levels in the blood and promote normal bone formation.

MalaCards based summary : Hypophosphatemic Rickets, X-Linked Recessive, also known as hypophosphatemic rickets, is related to hereditary hypophosphatemic rickets and hypophosphatemic rickets, x-linked dominant. An important gene associated with Hypophosphatemic Rickets, X-Linked Recessive is CLCN5 (Chloride Voltage-Gated Channel 5), and among its related pathways/superpathways are Parathyroid hormone synthesis, secretion and action and Transcription_Role of VDR in regulation of genes involved in osteoporosis. Affiliated tissues include bone, kidney and cortex, and related phenotypes are pectus excavatum and scoliosis

Disease Ontology : 12 A rickets that has material basis in mutation in the CLCN5 gene on chromosome Xp11.22.

OMIM : 57 X-linked recessive hypophosphatemic rickets is a form of X-linked hypercalciuric nephrolithiasis, which comprises a group of disorders characterized by proximal renal tubular reabsorptive failure, hypercalciuria, nephrocalcinosis, and renal insufficiency. These disorders have also been referred to as the 'Dent disease complex' (Scheinman, 1998; Gambaro et al., 2004). For a general discussion of Dent disease, see 300009. (300554)

UniProtKB/Swiss-Prot : 75 Hypophosphatemic rickets, X-linked recessive: A renal disease belonging to the 'Dent disease complex', a group of disorders characterized by proximal renal tubular defect, hypercalciuria, nephrocalcinosis, and renal insufficiency. The spectrum of phenotypic features is remarkably similar in the various disorders, except for differences in the severity of bone deformities and renal impairment. XLRH patients present with rickets or osteomalacia, hypophosphatemia due to decreased renal tubular phosphate reabsorption, hypercalciuria, and low molecular weight proteinuria. Patients develop nephrocalcinosis with progressive renal failure in adulthood. Female carriers may have asymptomatic hypercalciuria or hypophosphatemia only.

Wikipedia : 76 X-linked hypophosphatemia (XLH), also called X-linked dominant hypophosphatemic rickets, or X-linked... more...

Related Diseases for Hypophosphatemic Rickets, X-Linked Recessive

Diseases in the Hypophosphatemic Rickets, X-Linked Dominant family:

Hypophosphatemic Rickets, X-Linked Recessive

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

(show top 50) (show all 92)
# Related Disease Score Top Affiliating Genes
1 hereditary hypophosphatemic rickets 34.3 SLC34A1 SLC34A3
2 hypophosphatemic rickets, x-linked dominant 33.9 DMP1 FGF23 PHEX SLC34A1 SLC34A3
3 hypophosphatemic rickets, autosomal dominant 33.8 FGF23 MEPE PHEX SFRP4 SLC34A3
4 autosomal recessive hypophosphatemic rickets 33.7 DMP1 ENPP1 FGF23 PHEX
5 hypophosphatemic rickets with hypercalciuria, hereditary 32.9 CYP27B1 DMP1 ENPP1 FGF23 MEPE PHEX
6 vitamin d-dependent rickets, type 2a 32.3 CYP27B1 PHEX VDR
7 rickets 31.1 CLCN5 CYP27B1 DMP1 ENPP1 FGF23 PHEX
8 hyperparathyroidism 31.1 CYP27B1 FGF23 PHEX VDR
9 osteomalacia 30.6 CYP24A1 DMP1 FGF23 PHEX SFRP4 VDR
10 fanconi syndrome 30.6 CLCN5 SLC34A1
11 secondary hyperparathyroidism of renal origin 30.4 CYP27B1 FGF23 VDR
12 arterial calcification of infancy 30.4 ENPP1 FGF23 PHEX
13 opsismodysplasia 30.4 FGF23 PHEX
14 nephrocalcinosis 30.4 CLCN5 CYP24A1 PHEX SLC34A1 SLC34A3
15 enthesopathy 30.2 DMP1 FGF23 PHEX
16 bone disease 30.1 FGF23 SLC34A3 VDR
17 aminoaciduria 30.0 CLCN5 SLC34A1
18 nephrolithiasis 29.9 CLCN5 CYP24A1 FGF23 SLC34A1 SLC34A3 VDR
19 osteoporosis 29.3 CYP24A1 CYP27B1 FGF23 MEPE SLC34A1 VDR
20 hypophosphatemia 29.2 CLCN5 DMP1 DSPP ENPP1 FGF23 PHEX
21 hypophosphatemic rickets, autosomal recessive, 2 12.7
22 hypophosphatemic rickets, autosomal recessive, 1 12.6
23 hypophosphatemic rickets and hyperparathyroidism 12.5
24 dent disease 1 11.7
25 fanconi renotubular syndrome 1 11.2
26 tumoral calcinosis, hyperphosphatemic, familial, 1 11.2
27 tyrosinemia, type i 11.2
28 ossification of the posterior longitudinal ligament of spine 11.2
29 fanconi renotubular syndrome 2 11.2
30 fanconi renotubular syndrome 3 11.2
31 tumoral calcinosis, hyperphosphatemic, familial, 2 11.2
32 tumoral calcinosis, hyperphosphatemic, familial, 3 11.2
33 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis 11.2
34 nevus, epidermal 10.4
35 craniosynostosis 10.4
36 synostosis 10.4
37 mccune-albright syndrome 10.2
38 fanconi-bickel syndrome 10.2
39 insulin-like growth factor i 10.2
40 hyperthyroidism 10.2
41 familial tumoral calcinosis 10.2 FGF23 PHEX
42 calciphylaxis 10.2 FGF23 VDR
43 raine syndrome 10.1 DMP1 FGF23
44 hypercalciuria, absorptive, 2 10.1 CLCN5 SLC34A3 VDR
45 idiopathic hypercalciuria 10.1 CLCN5 SLC34A3 VDR
46 hypervitaminosis d 10.1 CYP27B1 FGF23 VDR
47 pulmonary alveolar microlithiasis 10.1 FGF23 SLC34A1 SLC34A3
48 bone remodeling disease 10.1 FGF23 PHEX VDR
49 idiopathic infantile hypercalcemia 10.1 CYP24A1 SLC34A1
50 nephrolithiasis, calcium oxalate 10.1 CLCN5 SLC34A1 VDR

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



Diseases related to Hypophosphatemic Rickets, X-Linked Recessive

Symptoms & Phenotypes for Hypophosphatemic Rickets, X-Linked Recessive

Symptoms via clinical synopsis from OMIM:

57
Growth Height:
short stature

Skeletal:
rickets
osteomalacia
bone pain
thin bony cortex
sparse bone trabeculae
more
Skeletal Limbs:
bowing of the legs
enlargement of the wrists
enlargement of the ankles
delayed opacification of the epiphyses
widened, distorted epiphyses
more
Laboratory Abnormalities:
hypophosphatemia
hypercalciuria
low-molecular-weight proteinuria
appropriately increased serum 1,25-dihydroxyvitamin d3

Genitourinary Kidneys:
nephrocalcinosis
nephrolithiasis
proximal renal tubule defect
decreased renal tubular phosphate reabsorption
renal insufficiency, progressive
more
Growth Other:
poor growth


Clinical features from OMIM:

300554

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

32 (show all 36)
# Description HPO Frequency HPO Source Accession
1 pectus excavatum 32 hallmark (90%) HP:0000767
2 scoliosis 32 frequent (33%) HP:0002650
3 bowing of the long bones 32 hallmark (90%) HP:0006487
4 joint stiffness 32 hallmark (90%) HP:0001387
5 short stature 32 hallmark (90%) HP:0004322
6 hypophosphatemia 32 HP:0002148
7 rickets 32 HP:0002748
8 exostoses 32 hallmark (90%) HP:0100777
9 delayed eruption of teeth 32 hallmark (90%) HP:0000684
10 dolichocephaly 32 hallmark (90%) HP:0000268
11 hypercalciuria 32 HP:0002150
12 abnormality of dental enamel 32 hallmark (90%) HP:0000682
13 nephrocalcinosis 32 HP:0000121
14 nephrolithiasis 32 HP:0000787
15 osteomalacia 32 HP:0002749
16 recurrent fractures 32 HP:0002757
17 abnormality of calcium-phosphate metabolism 32 hallmark (90%) HP:0100530
18 bone pain 32 HP:0002653
19 craniosynostosis 32 frequent (33%) HP:0001363
20 proximal tubulopathy 32 HP:0000114
21 femoral bowing 32 HP:0002980
22 tibial bowing 32 HP:0002982
23 bowing of the legs 32 HP:0002979
24 chronic kidney disease 32 HP:0012622
25 hypophosphatemic rickets 32 HP:0004912
26 delayed epiphyseal ossification 32 HP:0002663
27 thin bony cortex 32 HP:0002753
28 fibular bowing 32 HP:0010502
29 renal phosphate wasting 32 HP:0000117
30 sparse bone trabeculae 32 HP:0002752
31 bulging epiphyses 32 HP:0003013
32 enlargement of the wrists 32 HP:0003020
33 metaphyseal irregularity 32 HP:0003025
34 enlargement of the ankles 32 HP:0003029
35 low-molecular-weight proteinuria 32 HP:0003126
36 increased serum 1,25-dihydroxyvitamin d3 32 HP:0003152

MGI Mouse Phenotypes related to Hypophosphatemic Rickets, X-Linked Recessive:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.11 CLCN5 CYP24A1 CYP27B1 DMP1 ENPP1 FGF23
2 homeostasis/metabolism MP:0005376 10.06 CLCN5 CYP24A1 CYP27B1 DMP1 ENPP1 FGF23
3 cardiovascular system MP:0005385 9.95 CYP27B1 DMP1 ENPP1 FGF23 PHEX SFRP4
4 immune system MP:0005387 9.86 CYP27B1 DMP1 ENPP1 FGF23 MEPE PHEX
5 limbs/digits/tail MP:0005371 9.7 CYP27B1 DMP1 ENPP1 FGF23 PHEX SFRP4
6 renal/urinary system MP:0005367 9.7 CLCN5 CYP24A1 CYP27B1 DMP1 ENPP1 FGF23
7 skeleton MP:0005390 9.4 CLCN5 CYP24A1 CYP27B1 DMP1 ENPP1 FGF23

Drugs & Therapeutics for Hypophosphatemic Rickets, X-Linked Recessive

Search Clinical Trials , NIH Clinical Center for Hypophosphatemic Rickets, X-Linked Recessive

Genetic Tests for Hypophosphatemic Rickets, X-Linked Recessive

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

# Genetic test Affiliating Genes
1 Hypophosphatemic Rickets, X-Linked Recessive 29 CLCN5
2 Hypophosphatemic Rickets Disorders 29
3 Hypophosphatemic Rickets 29

Anatomical Context for Hypophosphatemic Rickets, X-Linked Recessive

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

41
Bone, Kidney, Cortex, Testes, Spinal Cord, Heart, Skeletal Muscle

Publications for Hypophosphatemic Rickets, X-Linked Recessive

Articles related to Hypophosphatemic Rickets, X-Linked Recessive:

(show top 50) (show all 433)
# Title Authors Year
1
Hypophosphatemic Rickets. ( 30454743 )
2019
2
Craniosynostosis as the Presenting Feature of X-linked Hypophosphatemic Rickets. ( 29610183 )
2018
3
HYPOPHOSPHATEMIC RICKETS: CASE REPORT. ( 29617471 )
2018
4
Genetic analysis of three families with X-linked dominant hypophosphatemic rickets. ( 29858904 )
2018
5
Targeted resequencing of phosphorus metabolisma89related genes in 86 patients with hypophosphatemic rickets/osteomalacia. ( 29901142 )
2018
6
SLC34A3 Intronic Deletion in an Iranian Kindred with Hereditary Hypophosphatemic Rickets with Hypercalciuria and Review of Reported Cases. ( 29809158 )
2018
7
Effects of growth hormone treatment on adult height in severely short children with X-linked hypophosphatemic rickets. ( 29058153 )
2018
8
Molecular analysis of enthesopathy in a mouse model of hypophosphatemic rickets. ( 30002128 )
2018
9
Hereditary hypophosphatemic rickets with hypercalciuria: pathophysiology, clinical presentation, diagnosis and therapy. ( 30109410 )
2018
10
Two novel variants of the PHEX gene in patients with X‑linked dominant hypophosphatemic rickets and prenatal diagnosis for fetuses in these families. ( 29393334 )
2018
11
The frequency of clinical manifestations of hypophosphatemic rickets in patients with therapeutic strategies. ( 30069302 )
2018
12
Hypocalcaemic and hypophosphatemic rickets. ( 30086869 )
2018
13
High Incidence of Cranial Synostosis and Chiari I Malformation in Children With X-Linked Hypophosphatemic Rickets (XLHR). ( 30352126 )
2018
14
Identification a novel insertion PHEX mutation in a sporadic patient with hypophosphatemic rickets. ( 30406928 )
2018
15
[Novel PHEX gene mutations in patients with X-linked hypophosphatemic rickets: an analysis of 2 cases]. ( 28506344 )
2017
16
It is not always child abuse: multiple fractures due to hypophosphatemic rickets associated with elemental formula use. ( 28781857 )
2017
17
A pediatric hypophosphatemic rickets on MRI, (99m)Tc-MDP bone scan and (18)F-FDG PET/CT. ( 28315917 )
2017
18
X-linked hypophosphatemic rickets (PHEX mutation): A case report and literature review. ( 29213174 )
2017
19
Inhibition of FGFR Signaling Partially Rescues Hypophosphatemic Rickets in HMWFGF2 Tg Male Mice. ( 28938491 )
2017
20
Magnetic Resonance Imaging Features as Surrogate Markers of X-Linked Hypophosphatemic Rickets Activity. ( 28376474 )
2017
21
Evaluation of bone mineral density and microarchitectural parameters by DXA and HR-pQCT in 37 children and adults with X-linked hypophosphatemic rickets. ( 28194480 )
2017
22
X-linked Hypophosphatemic Rickets, del(2)(q37.1;q37.3) Deletion Syndrome and Mosaic Turner Syndrome, mos 45,X/46,X, del(2)(q37.1;q37.3) in a 3-year-old Female. ( 29259966 )
2017
23
Spontaneous Growth and Effect of Early Therapy with Calcitriol and Phosphate in X-linked Hypophosphatemic Rickets. ( 29292875 )
2017
24
Outcomes of orthopedic surgery in a cohort of 49 patients with X-linked hypophosphatemic rickets (XLHR). ( 28954742 )
2017
25
Two-year recombinant human growth hormone (rhGH) treatment is more effective in pre-pubertal compared to pubertal short children with X-linked hypophosphatemic rickets (XLHR). ( 28822957 )
2017
26
Dentoalveolar Abscesses Not Associated with Caries or Trauma: A Diagnostic Hallmark of Hypophosphatemic Rickets Initially Misdiagnosed as Hypochondroplasia. ( 29190002 )
2017
27
Genetic Knockout and Rescue Studies in Mice Unravel Abnormal Phosphorus Threshold in Hypophosphatemic Rickets. ( 28430915 )
2017
28
Burosumab: A new drug to treat hypophosphatemic rickets. ( 29545670 )
2017
29
[Mutational analysis and prenatal diagnosis in a family affected with hypophosphatemic rickets]. ( 28981921 )
2017
30
Fanconi-Bickel Syndrome: Two Pakistani Patients Presenting with Hypophosphatemic Rickets. ( 27617158 )
2016
31
Atraumatic diplaced bilateral femoral neck fracture in a patient with hypophosphatemic rickets in postpartum period: A missed diagnosis. ( 27771603 )
2016
32
Late-onset hereditary hypophosphatemic rickets with hypercalciuria (HHRH) due to mutation of SLC34A3/NPT2c. ( 27939817 )
2016
33
Hypophosphatemic Rickets and Pre-eruptive Spontaneous Dental Abscess. ( 27098722 )
2016
34
Skeletal Muscle, but not Cardiovascular Function, Is Altered in a Mouse Model of Autosomal Recessive Hypophosphatemic Rickets. ( 27242547 )
2016
35
Seven novel and six de novo PHEX gene mutations in patients with hypophosphatemic rickets. ( 27840894 )
2016
36
Renal Fanconi Syndrome and Hypophosphatemic Rickets in the Absence of Xenotropic and Polytropic Retroviral Receptor in the Nephron. ( 27799484 )
2016
37
Hypophosphatemic rickets and craniosynostosis: a multicenter case series. ( 26824597 )
2016
38
Patients with FGF23-related hypophosphatemic rickets/osteomalacia do not present with left ventricular hypertrophy. ( 27754732 )
2016
39
Treatment of hypophosphatemic rickets in generalized arterial calcification of infancy (GACI) without worsening of vascular calcification. ( 26857895 )
2016
40
Hypophosphatemic Rickets in Siblings: A Rare Case Report. ( 27340574 )
2016
41
Contemporary Medical and Surgical Management of X-linked Hypophosphatemic Rickets. ( 26040953 )
2015
42
A Novel PHEX Mutation in Japanese Patients with X-Linked Hypophosphatemic Rickets. ( 25861491 )
2015
43
Genetic Testing Confirmed the Early Diagnosis of X-Linked Hypophosphatemic Rickets in a 7-Month-Old Infant. ( 26904698 )
2015
44
X-linked hypophosphatemic rickets and sagittal craniosynostosis: three patients requiring operative cranial expansion: case series and literature review. ( 26510652 )
2015
45
Bone geometry, volumetric density, microarchitecture, and estimated bone strength assessed by HR-pQCT in adult patients with hypophosphatemic rickets. ( 25042721 )
2015
46
Hypophosphatemic rickets: lessons from disrupted FGF23 control of phosphorus homeostasis. ( 25620749 )
2015
47
Whole Exome Sequencing Reveals Novel PHEX Splice Site Mutations in Patients with Hypophosphatemic Rickets. ( 26107949 )
2015
48
Results of deformity correction in children with X-linked hereditary hypophosphatemic rickets by external fixation or combined technique. ( 26150332 )
2015
49
Clinical and molecular heterogeneity in a large series of patients with hypophosphatemic rickets. ( 26051471 )
2015
50
Novel de novo nonsense mutation of the PHEX gene (p.Lys50Ter) in a Chinese patient with hypophosphatemic rickets. ( 25839938 )
2015

Variations for Hypophosphatemic Rickets, X-Linked Recessive

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

75
# Symbol AA change Variation ID SNP ID
1 CLCN5 p.Ser244Leu VAR_001618 rs151340626

ClinVar genetic disease variations for Hypophosphatemic Rickets, X-Linked Recessive:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CLCN5 NM_000084.4(CLCN5): c.731C> T (p.Ser244Leu) single nucleotide variant Likely pathogenic rs151340626 GRCh37 Chromosome X, 49850644: 49850644
2 CLCN5 NM_000084.4(CLCN5): c.731C> T (p.Ser244Leu) single nucleotide variant Likely pathogenic rs151340626 GRCh38 Chromosome X, 50085987: 50085987
3 CLCN5 undetermined variant Pathogenic
4 PHEX NM_000444.5(PHEX): c.2167_2170dupAACT (p.Phe724Terfs) duplication Pathogenic rs1057518896 GRCh38 Chromosome X, 22247870: 22247873
5 PHEX NM_000444.5(PHEX): c.2167_2170dupAACT (p.Phe724Terfs) duplication Pathogenic rs1057518896 GRCh37 Chromosome X, 22265987: 22265990
6 DMP1 NM_004407.3(DMP1): c.979C> T (p.Gln327Ter) single nucleotide variant Likely pathogenic rs899142959 GRCh38 Chromosome 4, 87662757: 87662757
7 DMP1 NM_004407.3(DMP1): c.979C> T (p.Gln327Ter) single nucleotide variant Likely pathogenic rs899142959 GRCh37 Chromosome 4, 88583909: 88583909
8 CLCN5 NM_000084.4(CLCN5): c.1256C> T (p.Pro419Leu) single nucleotide variant Uncertain significance rs782602018 GRCh38 Chromosome X, 50086779: 50086779
9 CLCN5 NM_000084.4(CLCN5): c.1256C> T (p.Pro419Leu) single nucleotide variant Uncertain significance rs782602018 GRCh37 Chromosome X, 49851436: 49851436

Expression for Hypophosphatemic Rickets, X-Linked Recessive

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

Pathways for Hypophosphatemic Rickets, X-Linked Recessive

Pathways related to Hypophosphatemic Rickets, X-Linked Recessive according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.13 CYP24A1 CYP27B1 FGF23 SLC34A1 SLC34A3 VDR
2 11.09 CYP24A1 CYP27B1 VDR
3 10.88 CYP24A1 CYP27B1 VDR
4 10.13 CYP24A1 CYP27B1 VDR

GO Terms for Hypophosphatemic Rickets, X-Linked Recessive

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

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.84 DMP1 FGF23 MEPE SLC34A1
2 skeletal system development GO:0001501 9.78 DSPP MEPE PHEX VDR
3 ossification GO:0001503 9.76 DMP1 DSPP SLC34A1
4 regulation of bone mineralization GO:0030500 9.63 CYP27B1 ENPP1 FGF23
5 bone mineralization GO:0030282 9.62 CYP27B1 PHEX
6 decidualization GO:0046697 9.62 CYP27B1 VDR
7 phosphate-containing compound metabolic process GO:0006796 9.61 ENPP1 FGF23
8 positive regulation of keratinocyte differentiation GO:0045618 9.61 CYP27B1 VDR
9 response to vitamin D GO:0033280 9.61 CYP24A1 CYP27B1 PHEX
10 response to growth hormone GO:0060416 9.6 PHEX SLC34A1
11 response to magnesium ion GO:0032026 9.59 FGF23 SLC34A1
12 cellular response to vitamin D GO:0071305 9.58 FGF23 PHEX
13 cellular response to parathyroid hormone stimulus GO:0071374 9.58 FGF23 PHEX SLC34A1
14 phosphate ion transport GO:0006817 9.57 SLC34A1 SLC34A3
15 vitamin metabolic process GO:0006766 9.56 CYP24A1 CYP27B1
16 sodium-dependent phosphate transport GO:0044341 9.55 SLC34A1 SLC34A3
17 phosphate ion homeostasis GO:0055062 9.54 FGF23 SFRP4 SLC34A1
18 dentinogenesis GO:0097187 9.52 DSPP SLC34A1
19 response to sodium phosphate GO:1904383 9.51 FGF23 PHEX
20 positive regulation of vitamin D 24-hydroxylase activity GO:0010980 9.5 CYP27B1 FGF23 VDR
21 vitamin D receptor signaling pathway GO:0070561 9.49 CYP24A1 VDR
22 vitamin D metabolic process GO:0042359 9.46 CYP24A1 CYP27B1 FGF23 VDR
23 vitamin D catabolic process GO:0042369 9.43 CYP24A1 CYP27B1 FGF23
24 biomineral tissue development GO:0031214 9.35 DMP1 DSPP ENPP1 MEPE PHEX
25 cellular phosphate ion homeostasis GO:0030643 8.92 ENPP1 FGF23 SLC34A1 SLC34A3

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

# Name GO ID Score Top Affiliating Genes
1 sodium:phosphate symporter activity GO:0005436 8.96 SLC34A1 SLC34A3
2 sodium-dependent phosphate transmembrane transporter activity GO:0015321 8.62 SLC34A1 SLC34A3

Sources for Hypophosphatemic Rickets, X-Linked Recessive

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