MCID: HYP789
MIFTS: 49

Hypophosphatemic Rickets with Hypercalciuria, Hereditary

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

Aliases & Classifications for Hypophosphatemic Rickets with Hypercalciuria, Hereditary

MalaCards integrated aliases for Hypophosphatemic Rickets with Hypercalciuria, Hereditary:

Name: Hypophosphatemic Rickets with Hypercalciuria, Hereditary 57 73
Hereditary Hypophosphatemic Rickets with Hypercalciuria 12 59 75 15
Hhrh 57 59 75
Hypophosphatemic Rickets with Hypercalciuria 57 13
Hypercalciuric Rickets 57

Characteristics:

Orphanet epidemiological data:

59
hereditary hypophosphatemic rickets with hypercalciuria
Inheritance: Autosomal recessive; Age of onset: All ages;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy or early childhood
heterozygotes have milder metabolic defect with increased serum 1,25(oh)2d3 and hypercalciuria, but no bone disease or rickets
good response to phosphate treatment
autosomal dominant inheritance has been reported
codominant inheritance has been suggested


HPO:

32
hypophosphatemic rickets with hypercalciuria, hereditary:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Hypophosphatemic Rickets with Hypercalciuria, Hereditary

OMIM : 57 Hereditary hypophosphatemic rickets with hypercalciuria is a rare autosomal recessive disorder characterized by the presence of hypophosphatemia secondary to renal phosphate wasting, radiographic and/or histologic evidence of rickets, limb deformities, muscle weakness, and bone pain. HHRH is distinct from other forms of hypophosphatemic rickets in that affected individuals present with hypercalciuria due to increased serum 1,25-dihydroxyvitamin D levels and increased intestinal calcium absorption (summary by Bergwitz et al., 2006). (241530)

MalaCards based summary : Hypophosphatemic Rickets with Hypercalciuria, Hereditary, also known as hereditary hypophosphatemic rickets with hypercalciuria, is related to hereditary hypophosphatemic rickets and rickets, and has symptoms including muscle weakness, bone pain and difficulty standing. An important gene associated with Hypophosphatemic Rickets with Hypercalciuria, Hereditary is SLC34A3 (Solute Carrier Family 34 Member 3), and among its related pathways/superpathways are Negative regulation of FGFR3 signaling and Signaling by FGFR2. Affiliated tissues include bone and cortex, and related phenotypes are muscle weakness and short stature

UniProtKB/Swiss-Prot : 75 Hereditary hypophosphatemic rickets with hypercalciuria: Autosomal recessive form of hypophosphatemia characterized by reduced renal phosphate reabsorption and rickets. Increased serum levels of 1,25-dihydroxyvitamin D lead to increase in urinary calcium excretion.

Disease Ontology : 12 A rickets that has material basis in increased serum 1,25-dihydroxyvitamin D levels and increased intestinal calcium absorption and is characterized by the presence of hypophosphatemia secondary to renal phosphate wasting, radiographic and/or histologic evidence of rickets, limb deformities, muscle weakness, and bone pain.

Related Diseases for Hypophosphatemic Rickets with Hypercalciuria, Hereditary

Diseases related to Hypophosphatemic Rickets with Hypercalciuria, Hereditary via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 40)
# Related Disease Score Top Affiliating Genes
1 hereditary hypophosphatemic rickets 30.9 SLC34A1 SLC34A3
2 rickets 28.2 CYP27B1 DMP1 ENPP1 FGF23 PHEX PTH
3 hypophosphatemic rickets, x-linked recessive 27.0 CYP27B1 DMP1 ENPP1 FGF23 MEPE PHEX
4 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis 11.2
5 tracheal calcification 10.6 FGF23 KL
6 testicular microlithiasis 10.6 GALNT3 SLC34A2
7 enthesopathy 10.6 DMP1 FGF23 PHEX
8 raine syndrome 10.5 DMP1 FGF23
9 hypercalciuria, absorptive, 2 10.4 ADCY10 CLDN16 SLC34A3
10 opsismodysplasia 10.4 FGF23 PHEX
11 tumoral calcinosis, hyperphosphatemic, familial, 1 10.4 FGF23 GALNT3 KL
12 parathyroid gland disease 10.4 ADCY10 FGF23 PTH
13 nephrolithiasis 10.3 CLDN16 SLC34A1 SLC34A3
14 secondary hyperparathyroidism of renal origin 10.2 CYP27B1 FGF23 PTH
15 impaired renal function disease 10.2 ATP6V0A4 FGF23 PTH
16 hyperostosis 10.2 FGF23 GALNT3 KL
17 familial tumoral calcinosis 10.2 FGF23 GALNT3 KL PHEX
18 autosomal recessive hypophosphatemic rickets 10.2 DMP1 ENPP1 FGF23 PHEX
19 osteomalacia 10.2 DMP1 FGF23 PHEX SFRP4
20 hypomagnesemia 1, intestinal 10.1 CLDN16 PTH
21 arterial calcification of infancy 10.1 ENPP1 FGF23 GALNT3 PHEX
22 pulmonary alveolar microlithiasis 10.1 FGF23 PTH SLC34A1 SLC34A2 SLC34A3
23 lacrimoauriculodentodigital syndrome 10.0 FGF23 FGF7 GALNT3
24 bone remodeling disease 10.0 CYP27B1 FGF23 PHEX PTH
25 calciphylaxis 10.0 FGF23 PTH
26 hyperparathyroidism 9.9 CYP27B1 FGF23 PHEX PTH
27 idiopathic hypercalciuria 9.9
28 primary hypomagnesemia 9.8 ADCY10 ATP6V0A4 CLDN16 PTH
29 urinary system disease 9.8 ATP6V0A4 FGF23 KL PTH
30 chronic kidney failure 9.8 CLDN16 CYP27B1 FGF23 PTH
31 calcinosis 9.7 ENPP1 FGF23 GALNT3 KL PHEX
32 hypervitaminosis d 9.6 CYP27B1 FGF23 GALNT3 KL PTH
33 hyperphosphatemia 9.6 FGF23 GALNT3 KL PHEX PTH SLC34A1
34 hypophosphatemic rickets, autosomal dominant 9.2 FGF23 GALNT3 MEPE PHEX SFRP4 SLC34A3
35 hypophosphatemia 9.0 DMP1 ENPP1 FGF23 PHEX PTH SFRP4
36 mineral metabolism disease 8.8 ATP6V0A4 CLDN16 FGF23 GALNT3 KL PHEX
37 phosphorus metabolism disease 8.7 CYP27B1 DMP1 FGF23 GALNT3 KL PHEX
38 osteoporosis 8.6 ADCY10 CYP27B1 FGF23 KL MEPE PTH
39 hypophosphatemic rickets, x-linked dominant 8.6 CYP27B1 DMP1 FGF23 KL PHEX PTH
40 oncogenic osteomalacia 8.6 DMP1 FGF23 FGF7 MEPE PHEX PTH

Graphical network of the top 20 diseases related to Hypophosphatemic Rickets with Hypercalciuria, Hereditary:



Diseases related to Hypophosphatemic Rickets with Hypercalciuria, Hereditary

Symptoms & Phenotypes for Hypophosphatemic Rickets with Hypercalciuria, Hereditary

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
frontal bossing

Growth Other:
failure to thrive
growth retardation
poor growth

Skeletal:
rickets
bone pain
thin bony cortex
sparse bone trabeculae
increased fractures

Genitourinary Kidneys:
renal phosphate wasting
calcium nephrolithiasis
decreased tubular maximum for phosphate reabsorption per glomerular filtration rate (tmp/gfr)

Chest Ribs Sternum Clavicles And Scapulae:
enlargement of the costochondral junction
'bulging' of the costochondral junction
deformed rib cage

Muscle Soft Tissue:
muscle weakness
difficulty walking
difficulty standing
hypotonia

Laboratory Abnormalities:
hypophosphatemia
hypercalciuria
increased serum 1,25-dihydroxyvitamin d3
normal serum calcium
increased serum alkaline phosphatase
more
Skeletal Limbs:
bowing of the legs
enlargement of the wrists
enlargement of the ankles
delayed opacification of the epiphyses
widened, distorted epiphyses
more
Skeletal Skull:
widened cranial sutures
posterior flattening of the skull

Abdomen Gastrointestinal:
increased intestinal absorption of phosphate and calcium (normal response to increased serum 1,25-dihydroxyvitamin d3)


Clinical features from OMIM:

241530

Human phenotypes related to Hypophosphatemic Rickets with Hypercalciuria, Hereditary:

59 32 (show all 38)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0001324
2 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
3 hypophosphatemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002148
4 rickets 59 32 hallmark (90%) Very frequent (99-80%) HP:0002748
5 hypercalciuria 59 32 hallmark (90%) Very frequent (99-80%) HP:0002150
6 osteomalacia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002749
7 bone pain 59 32 frequent (33%) Frequent (79-30%) HP:0002653
8 frontal bossing 32 HP:0002007
9 muscular hypotonia 32 HP:0001252
10 failure to thrive 32 HP:0001508
11 renal tubular dysfunction 32 HP:0000124
12 growth delay 32 HP:0001510
13 recurrent fractures 32 HP:0002757
14 flat occiput 32 HP:0005469
15 difficulty walking 32 HP:0002355
16 femoral bowing 32 HP:0002980
17 generalized hypotonia 32 HP:0001290
18 elevated alkaline phosphatase 32 HP:0003155
19 tibial bowing 32 HP:0002982
20 bowing of the legs 32 HP:0002979
21 widely patent fontanelles and sutures 32 HP:0004492
22 hypophosphatemic rickets 32 HP:0004912
23 delayed epiphyseal ossification 32 HP:0002663
24 thin bony cortex 32 HP:0002753
25 fibular bowing 32 HP:0010502
26 renal phosphate wasting 32 HP:0000117
27 sparse bone trabeculae 32 HP:0002752
28 bulging epiphyses 32 HP:0003013
29 enlargement of the wrists 32 HP:0003020
30 metaphyseal irregularity 32 HP:0003025
31 enlargement of the ankles 32 HP:0003029
32 increased serum 1,25-dihydroxyvitamin d3 32 HP:0003152
33 difficulty standing 32 HP:0003698
34 calcium nephrolithiasis 32 HP:0004724
35 enlargement of the costochondral junction 32 HP:0000920
36 deformed rib cage 32 HP:0000886
37 abnormality of abdomen morphology 32 HP:0001438
38 bulging of the costochondral junction 32 HP:0000893

UMLS symptoms related to Hypophosphatemic Rickets with Hypercalciuria, Hereditary:


muscle weakness, bone pain, difficulty standing

GenomeRNAi Phenotypes related to Hypophosphatemic Rickets with Hypercalciuria, Hereditary according to GeneCards Suite gene sharing:

26 (show all 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 9.58 SLC34A1 SLC34A2 SLC34A3 ATP6V0A4 POC1B-GALNT4
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-112 9.58 SLC34A3
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-134 9.58 SLC34A3
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.58 ATP6V0A4
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 9.58 ATP6V0A4
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-179 9.58 SLC34A1
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-200 9.58 SLC34A2 POC1B-GALNT4
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 9.58 SLC34A3
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-26 9.58 SLC34A2
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 9.58 SLC34A3
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-48 9.58 POC1B-GALNT4
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-68 9.58 POC1B-GALNT4
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 9.58 ATP6V0A4

MGI Mouse Phenotypes related to Hypophosphatemic Rickets with Hypercalciuria, Hereditary:

46 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.31 ATP6V0A4 CYP27B1 DMP1 ENPP1 FGF23 FGF7
2 homeostasis/metabolism MP:0005376 10.3 KL PHEX PTH SFRP4 SLC20A2 SLC34A1
3 cardiovascular system MP:0005385 10.24 ADCY10 CYP27B1 DMP1 ENPP1 FGF23 GALNT3
4 hematopoietic system MP:0005397 10.18 CTNNBL1 CYP27B1 DMP1 FGF23 FGF7 GALNT3
5 immune system MP:0005387 10.13 CTNNBL1 CYP27B1 DMP1 ENPP1 FGF23 FGF7
6 craniofacial MP:0005382 10.02 GALNT3 KL PHEX PTH SLC20A2 CYP27B1
7 digestive/alimentary MP:0005381 10 FGF23 GALNT3 KL PHEX SFRP4 SLC34A2
8 renal/urinary system MP:0005367 10 PHEX SFRP4 SLC34A1 SLC34A2 SLC34A3 ATP6V0A4
9 limbs/digits/tail MP:0005371 9.86 PHEX PTH SFRP4 CYP27B1 DMP1 FGF23
10 reproductive system MP:0005389 9.56 ADCY10 CYP27B1 FGF23 FGF7 GALNT3 KL
11 skeleton MP:0005390 9.5 ATP6V0A4 CYP27B1 DMP1 ENPP1 FGF23 FGF7

Drugs & Therapeutics for Hypophosphatemic Rickets with Hypercalciuria, Hereditary

Search Clinical Trials , NIH Clinical Center for Hypophosphatemic Rickets with Hypercalciuria, Hereditary

Genetic Tests for Hypophosphatemic Rickets with Hypercalciuria, Hereditary

Anatomical Context for Hypophosphatemic Rickets with Hypercalciuria, Hereditary

MalaCards organs/tissues related to Hypophosphatemic Rickets with Hypercalciuria, Hereditary:

41
Bone, Cortex

Publications for Hypophosphatemic Rickets with Hypercalciuria, Hereditary

Articles related to Hypophosphatemic Rickets with Hypercalciuria, Hereditary:

(show all 20)
# Title Authors Year
1
SLC34A3 Intronic Deletion in an Iranian Kindred with Hereditary Hypophosphatemic Rickets with Hypercalciuria and Review of Reported Cases. ( 29809158 )
2018
2
Late-onset hereditary hypophosphatemic rickets with hypercalciuria (HHRH) due to mutation of SLC34A3/NPT2c. ( 27939817 )
2016
3
Intronic deletions in the SLC34A3 gene: A cautionary tale for mutation analysis of hereditary hypophosphatemic rickets with hypercalciuria. ( 24176905 )
2014
4
A compound heterozygous mutation in SLC34A3 causes hereditary hypophosphatemic rickets with hypercalciuria in a Chinese patient. ( 24246249 )
2014
5
SLC34A3 intronic deletion in a new kindred with hereditary hypophosphatemic rickets with hypercalciuria. ( 22672866 )
2012
6
Hereditary hypophosphatemic rickets with hypercalciuria: case report. ( 22806288 )
2012
7
Processing and stability of type IIc sodium-dependent phosphate cotransporter mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria. ( 22159077 )
2012
8
Hereditary hypophosphatemic rickets with hypercalciuria and nephrolithiasis-identification of a novel SLC34A3/NaPi-IIc mutation. ( 21344632 )
2011
9
Genetic and clinical peculiarities in a new family with hereditary hypophosphatemic rickets with hypercalciuria: a case report. ( 20074341 )
2010
10
A novel missense mutation in SLC34A3 that causes hereditary hypophosphatemic rickets with hypercalciuria in humans identifies threonine 137 as an important determinant of sodium-phosphate cotransport in NaPi-IIc. ( 18480181 )
2008
11
Hereditary hypophosphatemic rickets with hypercalciuria: a study for the phosphate transporter gene type IIc and osteoblastic function. ( 17968493 )
2007
12
Intronic deletions in the SLC34A3 gene cause hereditary hypophosphatemic rickets with hypercalciuria. ( 16849419 )
2006
13
SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium- phosphate cotransporter NaPi-IIc in maintaining phosphate homeostasis. ( 16358214 )
2006
14
Hereditary hypophosphatemic rickets with hypercalciuria. ( 16798045 )
2006
15
Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3. ( 16358215 )
2006
16
Hereditary hypophosphatemic rickets with hypercalciuria is not caused by mutations in the Na/Pi cotransporter NPT2 gene. ( 11181798 )
2001
17
Hereditary hypophosphatemic rickets with hypercalciuria: report of a new kindred. ( 11340356 )
2001
18
A new kindred with hereditary hypophosphatemic rickets with hypercalciuria: implications for correct diagnosis and treatment. ( 1436310 )
1992
19
Osteomalacia in hereditary hypophosphatemic rickets with hypercalciuria: a correlative clinical-histomorphometric study. ( 1986023 )
1991
20
Hereditary hypophosphatemic rickets with hypercalciuria. ( 2983203 )
1985

Variations for Hypophosphatemic Rickets with Hypercalciuria, Hereditary

UniProtKB/Swiss-Prot genetic disease variations for Hypophosphatemic Rickets with Hypercalciuria, Hereditary:

75
# Symbol AA change Variation ID SNP ID
1 SLC34A3 p.Ser138Phe VAR_025707 rs141734934
2 SLC34A3 p.Ser192Leu VAR_025709 rs199690076
3 SLC34A3 p.Gly196Arg VAR_025710 rs121918237
4 SLC34A3 p.Arg353Leu VAR_025713 rs121918234
5 SLC34A3 p.Ala413Glu VAR_025714 rs121918235
6 SLC34A3 p.Arg468Trp VAR_025715 rs121918238

ClinVar genetic disease variations for Hypophosphatemic Rickets with Hypercalciuria, Hereditary:

6
(show all 40)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC34A3 NM_001177317.1(SLC34A3): c.908delC (p.Pro303Argfs) deletion Pathogenic rs794729658 GRCh37 Chromosome 9, 140128376: 140128376
2 SLC34A3 NM_001177317.1(SLC34A3): c.908delC (p.Pro303Argfs) deletion Pathogenic rs794729658 GRCh38 Chromosome 9, 137233924: 137233924
3 SLC34A3 NM_001177317.1(SLC34A3): c.1058G> T (p.Arg353Leu) single nucleotide variant Pathogenic rs121918234 GRCh37 Chromosome 9, 140128693: 140128693
4 SLC34A3 NM_001177317.1(SLC34A3): c.1058G> T (p.Arg353Leu) single nucleotide variant Pathogenic rs121918234 GRCh38 Chromosome 9, 137234241: 137234241
5 SLC34A3 NM_001177317.1(SLC34A3): c.1238C> A (p.Ala413Glu) single nucleotide variant Pathogenic rs121918235 GRCh37 Chromosome 9, 140129086: 140129086
6 SLC34A3 NM_001177317.1(SLC34A3): c.1238C> A (p.Ala413Glu) single nucleotide variant Pathogenic rs121918235 GRCh38 Chromosome 9, 137234634: 137234634
7 SLC34A3 NM_001177317.1(SLC34A3): c.846G> A (p.Pro282=) single nucleotide variant Pathogenic rs121918236 GRCh37 Chromosome 9, 140128174: 140128174
8 SLC34A3 NM_001177317.1(SLC34A3): c.846G> A (p.Pro282=) single nucleotide variant Pathogenic rs121918236 GRCh38 Chromosome 9, 137233722: 137233722
9 SLC34A3 NM_001177317.1(SLC34A3): c.228delC (p.Cys77Alafs) deletion Pathogenic rs794729659 GRCh37 Chromosome 9, 140127079: 140127079
10 SLC34A3 NM_001177317.1(SLC34A3): c.228delC (p.Cys77Alafs) deletion Pathogenic rs794729659 GRCh38 Chromosome 9, 137232627: 137232627
11 SLC34A3 NM_001177317.1(SLC34A3): c.586G> A (p.Gly196Arg) single nucleotide variant Pathogenic rs121918237 GRCh37 Chromosome 9, 140127686: 140127686
12 SLC34A3 NM_001177317.1(SLC34A3): c.586G> A (p.Gly196Arg) single nucleotide variant Pathogenic rs121918237 GRCh38 Chromosome 9, 137233234: 137233234
13 SLC34A3 NM_001177317.1(SLC34A3): c.1402C> T (p.Arg468Trp) single nucleotide variant Pathogenic rs121918238 GRCh37 Chromosome 9, 140130470: 140130470
14 SLC34A3 NM_001177317.1(SLC34A3): c.1402C> T (p.Arg468Trp) single nucleotide variant Pathogenic rs121918238 GRCh38 Chromosome 9, 137236018: 137236018
15 SLC34A3 NG_017008.1: g.8205_8305del101 deletion Pathogenic GRCh38 Chromosome 9, 137233961: 137234061
16 SLC34A3 NG_017008.1: g.8205_8305del101 deletion Pathogenic GRCh37 Chromosome 9, 140128413: 140128513
17 SLC34A3 NM_001177317.1(SLC34A3): c.756G> A (p.Gln252=) single nucleotide variant Pathogenic rs121918239 GRCh37 Chromosome 9, 140127856: 140127856
18 SLC34A3 NM_001177317.1(SLC34A3): c.756G> A (p.Gln252=) single nucleotide variant Pathogenic rs121918239 GRCh38 Chromosome 9, 137233404: 137233404
19 SLC34A3 NG_017008.1: g.8561_8645del85 deletion Pathogenic
20 SLC34A3 NM_001177317.1(SLC34A3): c.575C> T (p.Ser192Leu) single nucleotide variant Pathogenic rs199690076 GRCh37 Chromosome 9, 140127675: 140127675
21 SLC34A3 NM_001177317.1(SLC34A3): c.575C> T (p.Ser192Leu) single nucleotide variant Pathogenic rs199690076 GRCh38 Chromosome 9, 137233223: 137233223
22 SLC34A3 NM_080877.2(SLC34A3): c.757T> C (p.Leu253=) single nucleotide variant Benign rs28407527 GRCh37 Chromosome 9, 140128085: 140128085
23 SLC34A3 NM_080877.2(SLC34A3): c.757T> C (p.Leu253=) single nucleotide variant Benign rs28407527 GRCh38 Chromosome 9, 137233633: 137233633
24 SLC34A3 NM_080877.2(SLC34A3): c.1274C> T (p.Thr425Ile) single nucleotide variant Likely pathogenic rs1060499697 GRCh37 Chromosome 9, 140129122: 140129122
25 SLC34A3 NM_080877.2(SLC34A3): c.1274C> T (p.Thr425Ile) single nucleotide variant Likely pathogenic rs1060499697 GRCh38 Chromosome 9, 137234670: 137234670
26 SLC34A3 NM_001177317.1(SLC34A3): c.1556dup (p.Pro520Serfs) duplication Pathogenic GRCh37 Chromosome 9, 140130624: 140130624
27 SLC34A3 NM_001177317.1(SLC34A3): c.1556dup (p.Pro520Serfs) duplication Pathogenic GRCh38 Chromosome 9, 137236172: 137236172
28 SLC34A3 NM_001177317.1(SLC34A3): c.304+2T> C single nucleotide variant Pathogenic rs201293634 GRCh38 Chromosome 9, 137232705: 137232705
29 SLC34A3 NM_001177317.1(SLC34A3): c.304+2T> C single nucleotide variant Pathogenic rs201293634 GRCh37 Chromosome 9, 140127157: 140127157
30 SLC34A3 NM_001177317.1(SLC34A3): c.448+5G> A single nucleotide variant Likely pathogenic rs768893184 GRCh37 Chromosome 9, 140127384: 140127384
31 SLC34A3 NM_001177317.1(SLC34A3): c.448+5G> A single nucleotide variant Likely pathogenic rs768893184 GRCh38 Chromosome 9, 137232932: 137232932
32 SLC34A3 NM_001177317.1(SLC34A3): c.575C> G (p.Ser192Trp) single nucleotide variant Pathogenic rs199690076 GRCh37 Chromosome 9, 140127675: 140127675
33 SLC34A3 NM_001177317.1(SLC34A3): c.575C> G (p.Ser192Trp) single nucleotide variant Pathogenic rs199690076 GRCh38 Chromosome 9, 137233223: 137233223
34 SLC34A3 NM_001177317.1(SLC34A3): c.1561dup (p.Leu521Profs) duplication Pathogenic/Likely pathogenic rs765816079 GRCh37 Chromosome 9, 140130629: 140130629
35 SLC34A3 NM_001177317.1(SLC34A3): c.1561dup (p.Leu521Profs) duplication Pathogenic/Likely pathogenic rs765816079 GRCh38 Chromosome 9, 137236177: 137236177
36 SLC34A3 NM_001177317.1(SLC34A3): c.1639_1652delCGCTCCTGGGCCTG (p.Arg547Alafs) deletion Pathogenic GRCh38 Chromosome 9, 137236255: 137236268
37 SLC34A3 NM_080877.2(SLC34A3): c.1210G> A (p.Gly404Arg) single nucleotide variant Uncertain significance rs759768852 GRCh38 Chromosome 9, 137234532: 137234532
38 SLC34A3 NM_080877.2(SLC34A3): c.1210G> A (p.Gly404Arg) single nucleotide variant Uncertain significance rs759768852 GRCh37 Chromosome 9, 140128984: 140128984
39 SLC34A3 NM_001177317.1(SLC34A3): c.1211-36G> A single nucleotide variant Uncertain significance rs748121039 GRCh38 Chromosome 9, 137234571: 137234571
40 SLC34A3 NM_001177317.1(SLC34A3): c.1211-36G> A single nucleotide variant Uncertain significance rs748121039 GRCh37 Chromosome 9, 140129023: 140129023

Expression for Hypophosphatemic Rickets with Hypercalciuria, Hereditary

Search GEO for disease gene expression data for Hypophosphatemic Rickets with Hypercalciuria, Hereditary.

Pathways for Hypophosphatemic Rickets with Hypercalciuria, Hereditary

GO Terms for Hypophosphatemic Rickets with Hypercalciuria, Hereditary

Cellular components related to Hypophosphatemic Rickets with Hypercalciuria, Hereditary according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 apical plasma membrane GO:0016324 9.55 ATP6V0A4 KL SLC34A1 SLC34A2 SLC34A3
2 brush border GO:0005903 9.26 ATP6V0A4 SLC34A1 SLC34A2 SLC34A3
3 brush border membrane GO:0031526 8.92 ATP6V0A4 SLC34A1 SLC34A2 SLC34A3
4 integral component of membrane GO:0016021 10.07 ADCY10 ATP6V0A4 CLDN16 ENPP1 GALNT3 KL

Biological processes related to Hypophosphatemic Rickets with Hypercalciuria, Hereditary according to GeneCards Suite gene sharing:

(show all 27)
# Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.89 DMP1 FGF23 MEPE SLC34A1 SLC34A2
2 sodium ion transport GO:0006814 9.85 SLC20A2 SLC34A1 SLC34A2 SLC34A3
3 phosphatidylinositol phosphorylation GO:0046854 9.8 FGF23 FGF7 KL
4 ossification GO:0001503 9.78 ATP6V0A4 DMP1 SLC34A1
5 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.75 FGF23 FGF7 KL
6 fibroblast growth factor receptor signaling pathway GO:0008543 9.73 FGF23 FGF7 GALNT3 KL
7 sodium ion transmembrane transport GO:0035725 9.71 SLC20A2 SLC34A1 SLC34A2 SLC34A3
8 regulation of bone mineralization GO:0030500 9.65 CYP27B1 ENPP1 FGF23
9 phosphate-containing compound metabolic process GO:0006796 9.63 ENPP1 FGF23
10 response to lead ion GO:0010288 9.63 PTH SLC34A1
11 response to vitamin D GO:0033280 9.63 CYP27B1 PHEX PTH
12 vitamin D metabolic process GO:0042359 9.62 CYP27B1 FGF23
13 biomineral tissue development GO:0031214 9.62 DMP1 ENPP1 MEPE PHEX
14 response to growth hormone GO:0060416 9.61 PHEX SLC34A1
15 response to magnesium ion GO:0032026 9.6 FGF23 SLC34A1
16 cellular response to vitamin D GO:0071305 9.59 FGF23 PHEX
17 positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway GO:0090080 9.57 FGF23 KL
18 response to parathyroid hormone GO:0071107 9.56 PTH SLC34A1
19 vitamin D catabolic process GO:0042369 9.54 CYP27B1 FGF23
20 cellular response to parathyroid hormone stimulus GO:0071374 9.54 FGF23 PHEX SLC34A1
21 positive regulation of vitamin D 24-hydroxylase activity GO:0010980 9.52 CYP27B1 FGF23
22 response to sodium phosphate GO:1904383 9.51 FGF23 PHEX
23 phosphate ion transport GO:0006817 9.46 SLC20A2 SLC34A1 SLC34A2 SLC34A3
24 phosphate ion homeostasis GO:0055062 9.43 FGF23 SFRP4 SLC34A1
25 sodium-dependent phosphate transport GO:0044341 9.26 SLC20A2 SLC34A1 SLC34A2 SLC34A3
26 cellular phosphate ion homeostasis GO:0030643 9.02 ENPP1 FGF23 SLC34A1 SLC34A2 SLC34A3
27 ion transport GO:0006811 10.06 ATP6V0A4 CLDN16 SLC20A2 SLC34A1 SLC34A2 SLC34A3

Molecular functions related to Hypophosphatemic Rickets with Hypercalciuria, Hereditary according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.58 FGF23 FGF7 KL
2 symporter activity GO:0015293 9.56 SLC20A2 SLC34A1 SLC34A2 SLC34A3
3 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.54 FGF23 FGF7 KL
4 1-phosphatidylinositol-3-kinase activity GO:0016303 9.5 FGF23 FGF7 KL
5 fibroblast growth factor receptor binding GO:0005104 9.33 FGF23 FGF7 KL
6 sodium:phosphate symporter activity GO:0005436 9.26 SLC20A2 SLC34A1 SLC34A2 SLC34A3
7 sodium-dependent phosphate transmembrane transporter activity GO:0015321 8.92 SLC20A2 SLC34A1 SLC34A2 SLC34A3

Sources for Hypophosphatemic Rickets with Hypercalciuria, Hereditary

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
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46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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