HHRH
MCID: HYP789
MIFTS: 50

Hypophosphatemic Rickets with Hypercalciuria, Hereditary (HHRH)

Categories: Bone diseases, Endocrine diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Nephrological 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 58 74
Hereditary Hypophosphatemic Rickets with Hypercalciuria 12 60 76 15
Hhrh 58 60 76
Hypophosphatemic Rickets with Hypercalciuria 58 13
Hypercalciuric Rickets 58

Characteristics:

Orphanet epidemiological data:

60
hereditary hypophosphatemic rickets with hypercalciuria
Inheritance: Autosomal recessive; Age of onset: All ages;

OMIM:

58
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:

33
hypophosphatemic rickets with hypercalciuria, hereditary:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Hypophosphatemic Rickets with Hypercalciuria, Hereditary

OMIM : 58 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 nephrolithiasis, 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 Signaling by FGFR2 and Parathyroid hormone synthesis, secretion and action. Affiliated tissues include bone and cortex, and related phenotypes are hypophosphatemia and rickets

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.

UniProtKB/Swiss-Prot : 76 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.

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 42)
# Related Disease Score Top Affiliating Genes
1 hereditary hypophosphatemic rickets 30.6 SLC34A1 SLC34A3
2 nephrolithiasis 30.3 FGF23 PTH SLC34A1 SLC34A3
3 osteomalacia 30.1 DMP1 FGF23 PHEX PTH SFRP4
4 rickets 28.9 CYP27B1 DMP1 ENPP1 FGF23 PHEX PTH
5 hypophosphatemic rickets, x-linked recessive 28.3 CYP27B1 DMP1 ENPP1 FGF23 MEPE PHEX
6 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis 11.4
7 raine syndrome 10.3 DMP1 FGF23
8 tracheal calcification 10.3 FGF23 KL
9 opsismodysplasia 10.3 FGF23 PHEX
10 testicular microlithiasis 10.2 GALNT3 SLC34A2
11 calciphylaxis 10.2 FGF23 PTH
12 enthesopathy 10.2 DMP1 FGF23 PHEX
13 impaired renal function disease 10.2 FGF23 PTH
14 bone remodeling disease 10.1 FGF23 PHEX PTH
15 vitamin d-dependent rickets, type 2a 10.1 CYP27B1 PHEX
16 hypophosphatasia 10.1 ENPP1 PHEX
17 arterial calcification of infancy 10.1 ENPP1 FGF23 PHEX
18 tumoral calcinosis, hyperphosphatemic, familial, 1 10.1 FGF23 GALNT3 KL
19 hyperostosis 10.1 FGF23 GALNT3 KL
20 idiopathic hypercalciuria 10.1
21 urinary system disease 10.1 FGF23 KL PTH
22 nephrocalcinosis 10.0 PHEX PTH SLC34A1 SLC34A3
23 hypophosphatasia, adult 10.0 ENPP1 PTH
24 secondary hyperparathyroidism of renal origin 10.0 CYP27B1 FGF23 PTH
25 lacrimoauriculodentodigital syndrome 10.0 FGF23 FGF7 GALNT3
26 familial tumoral calcinosis 9.9 FGF23 GALNT3 KL PHEX
27 bone disease 9.9 FGF23 PTH SLC34A3
28 pulmonary alveolar microlithiasis 9.9 FGF23 PTH SLC34A1 SLC34A2 SLC34A3
29 spondylosis 9.9 KL PTH
30 hyperparathyroidism 9.9 CYP27B1 FGF23 PHEX PTH
31 chronic kidney failure 9.8 CYP27B1 FGF23 PTH
32 autosomal recessive hypophosphatemic rickets 9.8 DMP1 ENPP1 FGF23 GALNT3 PHEX
33 calcinosis 9.7 ENPP1 FGF23 GALNT3 KL PHEX
34 mineral metabolism disease 9.6 FGF23 GALNT3 KL PHEX PTH SLC34A3
35 hyperphosphatemia 9.6 FGF23 GALNT3 KL PHEX PTH SLC34A1
36 hypervitaminosis d 9.6 CYP27B1 FGF23 GALNT3 KL PTH
37 hypophosphatemic rickets, x-linked dominant 9.6 DMP1 FGF23 KL PHEX PTH SLC34A1
38 hypophosphatemic rickets, autosomal dominant 9.5 FGF23 GALNT3 MEPE PHEX SFRP4 SLC34A3
39 osteoporosis 9.3 CYP27B1 FGF23 KL MEPE PTH SLC34A1
40 hypophosphatemia 9.3 DMP1 ENPP1 FGF23 PHEX PTH SFRP4
41 oncogenic osteomalacia 9.1 DMP1 FGF23 FGF7 MEPE PHEX PTH
42 phosphorus metabolism disease 9.1 CYP27B1 DMP1 FGF23 GALNT3 KL PHEX

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

Human phenotypes related to Hypophosphatemic Rickets with Hypercalciuria, Hereditary:

60 33 (show all 38)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypophosphatemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002148
2 rickets 60 33 hallmark (90%) Very frequent (99-80%) HP:0002748
3 hypercalciuria 60 33 hallmark (90%) Very frequent (99-80%) HP:0002150
4 osteomalacia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002749
5 muscle weakness 60 33 frequent (33%) Frequent (79-30%) HP:0001324
6 short stature 60 33 frequent (33%) Frequent (79-30%) HP:0004322
7 bone pain 60 33 frequent (33%) Frequent (79-30%) HP:0002653
8 frontal bossing 33 HP:0002007
9 muscular hypotonia 33 HP:0001252
10 failure to thrive 33 HP:0001508
11 renal tubular dysfunction 33 HP:0000124
12 growth delay 33 HP:0001510
13 recurrent fractures 33 HP:0002757
14 flat occiput 33 HP:0005469
15 difficulty walking 33 HP:0002355
16 generalized hypotonia 33 HP:0001290
17 femoral bowing 33 HP:0002980
18 elevated alkaline phosphatase 33 HP:0003155
19 tibial bowing 33 HP:0002982
20 bowing of the legs 33 HP:0002979
21 widely patent fontanelles and sutures 33 HP:0004492
22 difficulty standing 33 HP:0003698
23 hypophosphatemic rickets 33 HP:0004912
24 delayed epiphyseal ossification 33 HP:0002663
25 thin bony cortex 33 HP:0002753
26 fibular bowing 33 HP:0010502
27 renal phosphate wasting 33 HP:0000117
28 sparse bone trabeculae 33 HP:0002752
29 bulging epiphyses 33 HP:0003013
30 enlargement of the wrists 33 HP:0003020
31 metaphyseal irregularity 33 HP:0003025
32 enlargement of the ankles 33 HP:0003029
33 increased serum 1,25-dihydroxyvitamin d3 33 HP:0003152
34 calcium nephrolithiasis 33 HP:0004724
35 enlargement of the costochondral junction 33 HP:0000920
36 deformed rib cage 33 HP:0000886
37 abnormality of abdomen morphology 33 HP:0001438
38 bulging of the costochondral junction 33 HP:0000893

Symptoms via clinical synopsis from OMIM:

58
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

UMLS symptoms related to Hypophosphatemic Rickets with Hypercalciuria, Hereditary:


muscle weakness, bone pain, difficulty standing

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

47 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.3 CYP27B1 DMP1 ENPP1 FGF23 FGF7 GALNT3
2 homeostasis/metabolism MP:0005376 10.25 CYP27B1 DMP1 ENPP1 FGF23 FGF7 GALNT3
3 cardiovascular system MP:0005385 10.21 DMP1 ENPP1 FGF23 GALNT3 KL PHEX
4 hematopoietic system MP:0005397 10.21 CTNNBL1 CYP27B1 DMP1 FGF23 FGF7 GALNT3
5 immune system MP:0005387 10.18 CTNNBL1 CYP27B1 DMP1 ENPP1 FGF23 FGF7
6 craniofacial MP:0005382 10.04 CYP27B1 DMP1 GALNT3 KL PHEX PTH
7 digestive/alimentary MP:0005381 10.02 FGF23 GALNT3 KL PHEX SFRP4 SLC34A2
8 limbs/digits/tail MP:0005371 9.97 CYP27B1 DMP1 ENPP1 FGF23 GALNT3 KL
9 mortality/aging MP:0010768 9.96 CTNNBL1 ENPP1 FGF23 KL PHEX PTH
10 renal/urinary system MP:0005367 9.93 CYP27B1 DMP1 ENPP1 FGF23 FGF7 GALNT3
11 reproductive system MP:0005389 9.5 CYP27B1 FGF23 FGF7 GALNT3 KL SFRP4
12 skeleton MP:0005390 9.47 CYP27B1 DMP1 ENPP1 FGF23 FGF7 GALNT3

Drugs & Therapeutics for Hypophosphatemic Rickets with Hypercalciuria, Hereditary

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Impact of Phosphate Metabolism on Healthy Aging Not yet recruiting NCT03771105 Early Phase 1 phosphate

Search 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:

42
Bone, Cortex

Publications for Hypophosphatemic Rickets with Hypercalciuria, Hereditary

Articles related to Hypophosphatemic Rickets with Hypercalciuria, Hereditary:

(show all 21)
# 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
Hereditary hypophosphatemic rickets with hypercalciuria: pathophysiology, clinical presentation, diagnosis and therapy. ( 30109410 )
2018
3
Late-onset hereditary hypophosphatemic rickets with hypercalciuria (HHRH) due to mutation of SLC34A3/NPT2c. ( 27939817 )
2016
4
Intronic deletions in the SLC34A3 gene: A cautionary tale for mutation analysis of hereditary hypophosphatemic rickets with hypercalciuria. ( 24176905 )
2014
5
A compound heterozygous mutation in SLC34A3 causes hereditary hypophosphatemic rickets with hypercalciuria in a Chinese patient. ( 24246249 )
2014
6
SLC34A3 intronic deletion in a new kindred with hereditary hypophosphatemic rickets with hypercalciuria. ( 22672866 )
2012
7
Hereditary hypophosphatemic rickets with hypercalciuria: case report. ( 22806288 )
2012
8
Processing and stability of type IIc sodium-dependent phosphate cotransporter mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria. ( 22159077 )
2012
9
Hereditary hypophosphatemic rickets with hypercalciuria and nephrolithiasis-identification of a novel SLC34A3/NaPi-IIc mutation. ( 21344632 )
2011
10
Genetic and clinical peculiarities in a new family with hereditary hypophosphatemic rickets with hypercalciuria: a case report. ( 20074341 )
2010
11
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
12
Hereditary hypophosphatemic rickets with hypercalciuria: a study for the phosphate transporter gene type IIc and osteoblastic function. ( 17968493 )
2007
13
Intronic deletions in the SLC34A3 gene cause hereditary hypophosphatemic rickets with hypercalciuria. ( 16849419 )
2006
14
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
15
Hereditary hypophosphatemic rickets with hypercalciuria. ( 16798045 )
2006
16
Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3. ( 16358215 )
2006
17
Hereditary hypophosphatemic rickets with hypercalciuria is not caused by mutations in the Na/Pi cotransporter NPT2 gene. ( 11181798 )
2001
18
Hereditary hypophosphatemic rickets with hypercalciuria: report of a new kindred. ( 11340356 )
2001
19
A new kindred with hereditary hypophosphatemic rickets with hypercalciuria: implications for correct diagnosis and treatment. ( 1436310 )
1992
20
Osteomalacia in hereditary hypophosphatemic rickets with hypercalciuria: a correlative clinical-histomorphometric study. ( 1986023 )
1991
21
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:

76
# 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 44)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC34A3 NM_001177317.1(SLC34A3): c.575C> T (p.Ser192Leu) single nucleotide variant Pathogenic rs199690076 GRCh37 Chromosome 9, 140127675: 140127675
2 SLC34A3 NM_001177317.1(SLC34A3): c.575C> T (p.Ser192Leu) single nucleotide variant Pathogenic rs199690076 GRCh38 Chromosome 9, 137233223: 137233223
3 SLC34A3 NM_001177317.1(SLC34A3): c.908delC (p.Pro303Argfs) deletion Pathogenic rs794729658 GRCh37 Chromosome 9, 140128376: 140128376
4 SLC34A3 NM_001177317.1(SLC34A3): c.908delC (p.Pro303Argfs) deletion Pathogenic rs794729658 GRCh38 Chromosome 9, 137233924: 137233924
5 SLC34A3 NM_001177317.1(SLC34A3): c.1058G> T (p.Arg353Leu) single nucleotide variant Pathogenic rs121918234 GRCh37 Chromosome 9, 140128693: 140128693
6 SLC34A3 NM_001177317.1(SLC34A3): c.1058G> T (p.Arg353Leu) single nucleotide variant Pathogenic rs121918234 GRCh38 Chromosome 9, 137234241: 137234241
7 SLC34A3 NM_001177317.1(SLC34A3): c.1238C> A (p.Ala413Glu) single nucleotide variant Pathogenic rs121918235 GRCh37 Chromosome 9, 140129086: 140129086
8 SLC34A3 NM_001177317.1(SLC34A3): c.1238C> A (p.Ala413Glu) single nucleotide variant Pathogenic rs121918235 GRCh38 Chromosome 9, 137234634: 137234634
9 SLC34A3 NM_001177317.1(SLC34A3): c.846G> A (p.Pro282=) single nucleotide variant Pathogenic rs121918236 GRCh37 Chromosome 9, 140128174: 140128174
10 SLC34A3 NM_001177317.1(SLC34A3): c.846G> A (p.Pro282=) single nucleotide variant Pathogenic rs121918236 GRCh38 Chromosome 9, 137233722: 137233722
11 SLC34A3 NM_001177317.1(SLC34A3): c.228delC (p.Cys77Alafs) deletion Pathogenic rs794729659 GRCh37 Chromosome 9, 140127079: 140127079
12 SLC34A3 NM_001177317.1(SLC34A3): c.228delC (p.Cys77Alafs) deletion Pathogenic rs794729659 GRCh38 Chromosome 9, 137232627: 137232627
13 SLC34A3 NM_001177317.1(SLC34A3): c.586G> A (p.Gly196Arg) single nucleotide variant Pathogenic rs121918237 GRCh37 Chromosome 9, 140127686: 140127686
14 SLC34A3 NM_001177317.1(SLC34A3): c.586G> A (p.Gly196Arg) single nucleotide variant Pathogenic rs121918237 GRCh38 Chromosome 9, 137233234: 137233234
15 SLC34A3 NM_001177317.1(SLC34A3): c.1402C> T (p.Arg468Trp) single nucleotide variant Pathogenic rs121918238 GRCh37 Chromosome 9, 140130470: 140130470
16 SLC34A3 NM_001177317.1(SLC34A3): c.1402C> T (p.Arg468Trp) single nucleotide variant Pathogenic rs121918238 GRCh38 Chromosome 9, 137236018: 137236018
17 SLC34A3 NG_017008.1: g.8205_8305del101 deletion Pathogenic rs1554784044 GRCh38 Chromosome 9, 137233961: 137234061
18 SLC34A3 NG_017008.1: g.8205_8305del101 deletion Pathogenic rs1554784044 GRCh37 Chromosome 9, 140128413: 140128513
19 SLC34A3 NM_001177317.1(SLC34A3): c.756G> A (p.Gln252=) single nucleotide variant Pathogenic rs121918239 GRCh37 Chromosome 9, 140127856: 140127856
20 SLC34A3 NM_001177317.1(SLC34A3): c.756G> A (p.Gln252=) single nucleotide variant Pathogenic rs121918239 GRCh38 Chromosome 9, 137233404: 137233404
21 SLC34A3 NG_017008.1: g.8561_8645del85 deletion Pathogenic rs1554784508 GRCh37 Chromosome 9, 140128769: 140128853
22 SLC34A3 NG_017008.1: g.8561_8645del85 deletion Pathogenic rs1554784508 GRCh38 Chromosome 9, 137234317: 137234401
23 SLC34A3 NM_080877.2(SLC34A3): c.757T> C (p.Leu253=) single nucleotide variant Benign rs28407527 GRCh37 Chromosome 9, 140128085: 140128085
24 SLC34A3 NM_080877.2(SLC34A3): c.757T> C (p.Leu253=) single nucleotide variant Benign rs28407527 GRCh38 Chromosome 9, 137233633: 137233633
25 SLC34A3 NM_080877.2(SLC34A3): c.1274C> T (p.Thr425Ile) single nucleotide variant Likely pathogenic rs1060499697 GRCh37 Chromosome 9, 140129122: 140129122
26 SLC34A3 NM_080877.2(SLC34A3): c.1274C> T (p.Thr425Ile) single nucleotide variant Likely pathogenic rs1060499697 GRCh38 Chromosome 9, 137234670: 137234670
27 SLC34A3 NM_001177317.1(SLC34A3): c.1556dup (p.Pro520Serfs) duplication Pathogenic rs1554785333 GRCh37 Chromosome 9, 140130624: 140130624
28 SLC34A3 NM_001177317.1(SLC34A3): c.1556dup (p.Pro520Serfs) duplication Pathogenic rs1554785333 GRCh38 Chromosome 9, 137236172: 137236172
29 SLC34A3 NM_001177317.1(SLC34A3): c.304+2T> C single nucleotide variant Pathogenic rs201293634 GRCh38 Chromosome 9, 137232705: 137232705
30 SLC34A3 NM_001177317.1(SLC34A3): c.304+2T> C single nucleotide variant Pathogenic rs201293634 GRCh37 Chromosome 9, 140127157: 140127157
31 SLC34A3 NM_001177317.1(SLC34A3): c.448+5G> A single nucleotide variant Likely pathogenic rs768893184 GRCh37 Chromosome 9, 140127384: 140127384
32 SLC34A3 NM_001177317.1(SLC34A3): c.448+5G> A single nucleotide variant Likely pathogenic rs768893184 GRCh38 Chromosome 9, 137232932: 137232932
33 SLC34A3 NM_001177317.1(SLC34A3): c.575C> G (p.Ser192Trp) single nucleotide variant Pathogenic rs199690076 GRCh37 Chromosome 9, 140127675: 140127675
34 SLC34A3 NM_001177317.1(SLC34A3): c.575C> G (p.Ser192Trp) single nucleotide variant Pathogenic rs199690076 GRCh38 Chromosome 9, 137233223: 137233223
35 SLC34A3 NM_001177317.1(SLC34A3): c.1561dup (p.Leu521Profs) duplication Pathogenic/Likely pathogenic rs765816079 GRCh37 Chromosome 9, 140130629: 140130629
36 SLC34A3 NM_001177317.1(SLC34A3): c.1561dup (p.Leu521Profs) duplication Pathogenic/Likely pathogenic rs765816079 GRCh38 Chromosome 9, 137236177: 137236177
37 SLC34A3 NM_001177317.1(SLC34A3): c.1639_1652delCGCTCCTGGGCCTG (p.Arg547Alafs) deletion Pathogenic rs1554785389 GRCh38 Chromosome 9, 137236255: 137236268
38 SLC34A3 NM_001177317.1(SLC34A3): c.1639_1652delCGCTCCTGGGCCTG (p.Arg547Alafs) deletion Pathogenic rs1554785389 GRCh37 Chromosome 9, 140130707: 140130720
39 SLC34A3 NM_080877.2(SLC34A3): c.448+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs150841256 GRCh37 Chromosome 9, 140127380: 140127380
40 SLC34A3 NM_080877.2(SLC34A3): c.448+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs150841256 GRCh38 Chromosome 9, 137232928: 137232928
41 SLC34A3 NM_080877.2(SLC34A3): c.1210G> A (p.Gly404Arg) single nucleotide variant Uncertain significance rs759768852 GRCh38 Chromosome 9, 137234532: 137234532
42 SLC34A3 NM_080877.2(SLC34A3): c.1210G> A (p.Gly404Arg) single nucleotide variant Uncertain significance rs759768852 GRCh37 Chromosome 9, 140128984: 140128984
43 SLC34A3 NM_001177317.1(SLC34A3): c.1211-36G> A single nucleotide variant Uncertain significance rs748121039 GRCh38 Chromosome 9, 137234571: 137234571
44 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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.54 FGF23 FGF7 GALNT3 KL
2 11.19 CYP27B1 FGF23 KL PTH SLC34A1 SLC34A2
3 10.4 FGF23 PTH
4 10.16 CYP27B1 PTH

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 integral component of plasma membrane GO:0005887 9.8 ENPP1 KL PHEX SLC20A2 SLC34A1 SLC34A2
2 extracellular region GO:0005576 9.76 DMP1 ENPP1 FGF23 FGF7 KL MEPE
3 apical plasma membrane GO:0016324 9.56 KL SLC34A1 SLC34A2 SLC34A3
4 vesicle GO:0031982 9.54 SLC34A1 SLC34A2 SLC34A3
5 brush border GO:0005903 9.13 SLC34A1 SLC34A2 SLC34A3
6 brush border membrane GO:0031526 8.8 SLC34A1 SLC34A2 SLC34A3

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

(show all 33)
# Name GO ID Score Top Affiliating Genes
1 regulation of signaling receptor activity GO:0010469 9.96 FGF23 FGF7 KL PTH
2 positive regulation of protein kinase B signaling GO:0051897 9.83 FGF23 FGF7 KL
3 cellular protein metabolic process GO:0044267 9.83 DMP1 FGF23 MEPE SLC34A1 SLC34A2
4 skeletal system development GO:0001501 9.81 MEPE PHEX PTH
5 phosphatidylinositol phosphorylation GO:0046854 9.8 FGF23 FGF7 KL
6 sodium ion transport GO:0006814 9.8 SLC20A2 SLC34A1 SLC34A2 SLC34A3
7 sodium ion transmembrane transport GO:0035725 9.76 SLC20A2 SLC34A2 SLC34A3
8 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.75 FGF23 FGF7 KL
9 bone mineralization GO:0030282 9.72 CYP27B1 PHEX PTH
10 fibroblast growth factor receptor signaling pathway GO:0008543 9.71 FGF23 FGF7 GALNT3 KL
11 positive regulation of bone mineralization GO:0030501 9.66 KL PTH
12 calcium ion homeostasis GO:0055074 9.65 CYP27B1 KL
13 regulation of bone mineralization GO:0030500 9.65 CYP27B1 ENPP1 FGF23
14 response to cadmium ion GO:0046686 9.64 PTH SLC34A1
15 response to lead ion GO:0010288 9.63 PTH SLC34A1
16 phosphate-containing compound metabolic process GO:0006796 9.63 ENPP1 FGF23
17 response to vitamin D GO:0033280 9.63 CYP27B1 PHEX PTH
18 phosphate ion transmembrane transport GO:0035435 9.62 SLC20A2 SLC34A1
19 biomineral tissue development GO:0031214 9.62 DMP1 ENPP1 MEPE PHEX
20 response to growth hormone GO:0060416 9.61 PHEX SLC34A1
21 response to magnesium ion GO:0032026 9.61 FGF23 SLC34A1
22 vitamin D metabolic process GO:0042359 9.6 CYP27B1 FGF23
23 cellular response to vitamin D GO:0071305 9.59 FGF23 PHEX
24 positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway GO:0090080 9.57 FGF23 KL
25 response to parathyroid hormone GO:0071107 9.56 PTH SLC34A1
26 phosphate ion transport GO:0006817 9.56 SLC20A2 SLC34A1 SLC34A2 SLC34A3
27 positive regulation of vitamin D 24-hydroxylase activity GO:0010980 9.54 CYP27B1 FGF23
28 cellular response to parathyroid hormone stimulus GO:0071374 9.54 FGF23 PHEX SLC34A1
29 response to sodium phosphate GO:1904383 9.52 FGF23 PHEX
30 vitamin D catabolic process GO:0042369 9.51 CYP27B1 FGF23
31 phosphate ion homeostasis GO:0055062 9.46 FGF23 PTH SFRP4 SLC34A1
32 sodium-dependent phosphate transport GO:0044341 9.26 SLC20A2 SLC34A1 SLC34A2 SLC34A3
33 cellular phosphate ion homeostasis GO:0030643 9.02 ENPP1 FGF23 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 EFO
18 ExPASy
20 FMA
29 GO
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63 PubMed
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70 SNOMED-CT via HPO
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73 Tocris
74 UMLS
75 UMLS via Orphanet
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