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HHRH
MCID: HYP789
MIFTS: 51

Hypophosphatemic Rickets with Hypercalciuria, Hereditary (HHRH)

Categories: Bone diseases, Endocrine diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Nephrological diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Hypophosphatemic Rickets with Hypercalciuria, Hereditary

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MalaCards integrated aliases for Hypophosphatemic Rickets with Hypercalciuria, Hereditary:

Name: Hypophosphatemic Rickets with Hypercalciuria, Hereditary 56 71
Hereditary Hypophosphatemic Rickets with Hypercalciuria 12 58 73 15
Hhrh 56 58 73
Hypophosphatemic Rickets with Hypercalciuria 56 13
Hypercalciuric Rickets 56

Characteristics:

Orphanet epidemiological data:

58
hereditary hypophosphatemic rickets with hypercalciuria
Inheritance: Autosomal recessive; Age of onset: All ages;

OMIM:

56
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:

31
hypophosphatemic rickets with hypercalciuria, hereditary:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Nephrological diseases Bone diseases Endocrine diseases Gastrointestinal diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare renal diseases
Rare bone diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0050947
OMIM 56 241530
ICD10 via Orphanet 33 E83.3
UMLS via Orphanet 72 C1853271
Orphanet 58 ORPHA157215
UMLS 71 C1853271
Sources

Summaries for Hypophosphatemic Rickets with Hypercalciuria, Hereditary

About this section
OMIM : 56 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 dent disease 1, 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 activated point mutants of FGFR3 and Parathyroid hormone synthesis, secretion and action. The drugs Immunoglobulins and Antibodies have been mentioned in the context of this disorder. Affiliated tissues include bone, cortex and kidney, 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 : 73 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.

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Related Diseases for Hypophosphatemic Rickets with Hypercalciuria, Hereditary

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

(show top 50) (show all 72)
# Related Disease Score Top Affiliating Genes
1 hereditary hypophosphatemic rickets 31.2 SLC34A3 SLC34A1
2 dent disease 1 30.6 SLC34A3 SLC34A1
3 bone disease 30.4 SLC34A3 PTH PHEX FGF23
4 secondary hyperparathyroidism 30.3 PTH PHEX FGF23
5 hyperparathyroidism 30.2 PTH PHEX FGF23
6 nephrolithiasis 30.0 SLC34A3 SLC34A1 PTH FGF23
7 nephrolithiasis/osteoporosis, hypophosphatemic, 1 30.0 SLC34A3 SLC34A1 PTH FGF23
8 hypophosphatemic rickets, x-linked recessive 29.5 SLC34A3 SLC34A1 PHEX FGF23 ENPP1 DMP1
9 hypophosphatemia 29.1 SLC34A3 SLC34A1 PTH PHEX FGF23 ENPP1
10 rickets 29.0 SLC34A3 SLC34A1 PTH PHEX FGF23 ENPP1
11 nephrocalcinosis 28.7 SLC34A3 SLC34A1 PTH PHEX FGF23 EMP1
12 fanconi syndrome 28.5 SLC34A3 SLC34A1 PTH PHEX FGF23 EMP1
13 osteomalacia 28.5 SLC34A3 SLC34A1 PTH PHEX FGF23 ENPP1
14 hypophosphatemic rickets, autosomal dominant 27.7 SLC34A3 PTH PHEX GALNT3 FGF23 ENPP1
15 hypophosphatemic rickets, x-linked dominant 27.0 SLC34A3 SLC34A1 PTH PHEX GALNT3 FGF23
16 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis 11.5
17 hypercalciuria, absorptive, 2 10.6
18 opsismodysplasia 10.3 PHEX FGF23
19 autosomal recessive disease 10.3
20 hypophosphatemic nephrolithiasis/osteoporosis 10.3
21 raine syndrome 10.2 FGF23 DMP1
22 osteoblastoma 10.2 SLC34A3 FGF23
23 renal glucosuria 10.2
24 primary hyperparathyroidism 10.2
25 renal tubular acidosis 10.2
26 aminoaciduria 10.2
27 dwarfism 10.2
28 tracheal calcification 10.1 PTH FGF23
29 calciphylaxis 10.1 PTH FGF23
30 osteitis fibrosa 10.1 PTH FGF23
31 nephrolithiasis, calcium oxalate 10.1
32 fanconi renotubular syndrome 2 10.1
33 medullary sponge kidney 10.1
34 idiopathic hypercalciuria 10.1
35 bone benign neoplasm 10.1 PTH FGF23
36 hyperlipoproteinemia, type v 10.1 SLC34A2 FGF23
37 renal tubular transport disease 10.1 SLC34A3 PTH
38 pseudohypoparathyroidism, type ib 10.0 SLC34A3 PTH
39 renal osteodystrophy 10.0 PTH FGF23
40 hypophosphatasia, adult 10.0 PTH ENPP1
41 parathyroid gland disease 9.9 PTH PHEX FGF23
42 gorham's disease 9.9 PTH GALNT3
43 testicular microlithiasis 9.9 SLC34A2 GALNT3
44 familial tumoral calcinosis 9.8 PHEX GALNT3 FGF23
45 odontochondrodysplasia 9.8 PTH PHEX FGF23
46 angioid streaks 9.8 GALNT3 ENPP1
47 basal ganglia disease 9.8 SLC20A2 PTH
48 osseous heteroplasia, progressive 9.8 PTH ENPP1
49 bone remodeling disease 9.7 SLC34A3 PTH PHEX FGF23
50 hypervitaminosis d 9.7 PTH GALNT3 FGF23

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



Diseases related to Hypophosphatemic Rickets with Hypercalciuria, Hereditary
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Symptoms & Phenotypes for Hypophosphatemic Rickets with Hypercalciuria, Hereditary

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Human phenotypes related to Hypophosphatemic Rickets with Hypercalciuria, Hereditary:

58 31 (show all 38)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypophosphatemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002148
2 rickets 58 31 hallmark (90%) Very frequent (99-80%) HP:0002748
3 hypercalciuria 58 31 hallmark (90%) Very frequent (99-80%) HP:0002150
4 osteomalacia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002749
5 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
6 muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0001324
7 bone pain 58 31 frequent (33%) Frequent (79-30%) HP:0002653
8 muscular hypotonia 31 HP:0001252
9 renal tubular dysfunction 31 HP:0000124
10 failure to thrive 31 HP:0001508
11 frontal bossing 31 HP:0002007
12 growth delay 31 HP:0001510
13 recurrent fractures 31 HP:0002757
14 flat occiput 31 HP:0005469
15 femoral bowing 31 HP:0002980
16 generalized hypotonia 31 HP:0001290
17 tibial bowing 31 HP:0002982
18 difficulty walking 31 HP:0002355
19 fibular bowing 31 HP:0010502
20 metaphyseal irregularity 31 HP:0003025
21 bowing of the legs 31 HP:0002979
22 elevated alkaline phosphatase 31 HP:0003155
23 delayed epiphyseal ossification 31 HP:0002663
24 thin bony cortex 31 HP:0002753
25 difficulty standing 31 HP:0003698
26 renal phosphate wasting 31 HP:0000117
27 sparse bone trabeculae 31 HP:0002752
28 bulging epiphyses 31 HP:0003013
29 enlargement of the wrists 31 HP:0003020
30 enlargement of the ankles 31 HP:0003029
31 hypophosphatemic rickets 31 HP:0004912
32 calcium nephrolithiasis 31 HP:0004724
33 widely patent fontanelles and sutures 31 HP:0004492
34 deformed rib cage 31 HP:0000886
35 enlargement of the costochondral junction 31 HP:0000920
36 abnormality of abdomen morphology 31 HP:0001438
37 bulging of the costochondral junction 31 HP:0000893
38 high serum calcitriol 31 HP:0031415

Symptoms via clinical synopsis from OMIM:

56
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
Head And Neck Head:
frontal bossing

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

Skeletal Skull:
widened cranial sutures
posterior flattening of the skull

Growth Other:
failure to thrive
growth retardation
poor growth

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

Skeletal Limbs:
bowing of the legs
enlargement of the wrists
enlargement of the ankles
delayed opacification of the epiphyses
widened, distorted epiphyses
more
Chest Ribs Sternum Clavicles And Scapulae:
deformed rib cage
enlargement of the costochondral junction
'bulging' of the costochondral junction

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:

45 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.1 DMP1 ENPP1 FGF23 GALNT3 PHEX PTH
2 growth/size/body region MP:0005378 10.1 DMP1 ENPP1 FGF23 GALNT3 PHEX PTH
3 homeostasis/metabolism MP:0005376 9.97 DMP1 ENPP1 FGF23 GALNT3 PHEX SLC20A2
4 craniofacial MP:0005382 9.95 DMP1 ENPP1 GALNT3 PHEX PTH SLC20A2
5 endocrine/exocrine gland MP:0005379 9.91 DMP1 FGF23 GALNT3 PHEX PTH SLC20A2
6 hematopoietic system MP:0005397 9.91 DMP1 EMP1 FGF23 GALNT3 PHEX PTH
7 digestive/alimentary MP:0005381 9.85 FGF23 GALNT3 PHEX SLC34A2 SLC34A3
8 immune system MP:0005387 9.8 DMP1 ENPP1 FGF23 GALNT3 PHEX PTH
9 limbs/digits/tail MP:0005371 9.63 DMP1 ENPP1 FGF23 GALNT3 PHEX PTH
10 renal/urinary system MP:0005367 9.56 DMP1 ENPP1 FGF23 GALNT3 PHEX SLC34A1
11 skeleton MP:0005390 9.28 DMP1 ENPP1 FGF23 GALNT3 PHEX PTH
Sources

Drugs & Therapeutics for Hypophosphatemic Rickets with Hypercalciuria, Hereditary

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Drugs for Hypophosphatemic Rickets with Hypercalciuria, Hereditary (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Immunoglobulins Phase 4
2 Antibodies Phase 4
3 Antibodies, Monoclonal Phase 4
4 Immunologic Factors Phase 4

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Examining the Effect of Burosumab on Muscle Function Using MR Spectroscopy Recruiting NCT04146935 Phase 4 Burosumab Injection [Crysvita]
2 The Impact of Phosphate Metabolism on Healthy Aging Recruiting NCT03771105 Early Phase 1 phosphate

Search NIH Clinical Center for Hypophosphatemic Rickets with Hypercalciuria, Hereditary

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Genetic Tests for Hypophosphatemic Rickets with Hypercalciuria, Hereditary

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Anatomical Context for Hypophosphatemic Rickets with Hypercalciuria, Hereditary

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

40
Bone, Cortex, Kidney
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Publications for Hypophosphatemic Rickets with Hypercalciuria, Hereditary

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Articles related to Hypophosphatemic Rickets with Hypercalciuria, Hereditary:

(show top 50) (show all 57)
# Title Authors PMID Year
1
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. 56 6 61
16358214 2006
2
Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3. 61 56 6
16358215 2006
3
Hereditary hypophosphatemic rickets with hypercalciuria. 56 6
2983203 1985
4
Intronic deletions in the SLC34A3 gene cause hereditary hypophosphatemic rickets with hypercalciuria. 61 6
16849419 2006
5
Hereditary hypophosphatemic rickets with hypercalciuria is not caused by mutations in the Na/Pi cotransporter NPT2 gene. 56 61
11181798 2001
6
Targeted inactivation of Npt2 in mice leads to severe renal phosphate wasting, hypercalciuria, and skeletal abnormalities. 61 56
9560283 1998
7
A new kindred with hereditary hypophosphatemic rickets with hypercalciuria: implications for correct diagnosis and treatment. 56 61
1436310 1992
8
"Idiopathic" hypercalciuria and hereditary hypophosphatemic rickets. Two phenotypical expressions of a common genetic defect. 61 56
3796683 1987
9
Hypercalciuric hypophosphatemic rickets, mineral balance, bone histomorphometry, and therapeutic implications of hypercalciuria. 56
2787497 1989
10
Autosomal dominant hypophosphataemia with elevated serum 1,25 dihydroxyvitamin D and hypercalciuria. 56
3153320 1987
11
[Familial form of idiopathic hypercalciuria with nanism, bone and renal involvement in children]. 56
521301 1979
12
Influence of phosphate depletion on the biosynthesis and circulating level of 1alpha,25-dihydroxyvitamin D. 56
899927 1977
13
Digenic Heterozygous Mutations in SLC34A3 and SLC34A1 Cause Dominant Hypophosphatemic Rickets with Hypercalciuria. 61
32311027 2020
14
[Clinical feature and variant analysis of a case with hereditary hypophosphatemic rickets with hypercalciuria]. 61
32472541 2020
15
HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA: A NOVEL HOMOZYGOUS MUTATION IN SLC34A3 AND LITERATURE REVIEW. 61
32524022 2020
16
Evaluating pathogenicity of SLC34A3-Ser192Leu, a frequent European missense variant in disorders of renal phosphate wasting. 61
30798342 2019
17
Phosphate matters when investigating hypercalcemia: a mutation in SLC34A3 causing HHRH 61
31352694 2019
18
Revision shoulder arthroplasty for failed humeral head resurfacing hemiarthroplasty. 61
31447943 2019
19
Analysis of opossum kidney NaPi-IIc sodium-dependent phosphate transporter to understand Pi handling in human kidney. 61
30317447 2019
20
Hereditary hypophosphatemic rickets with hypercalciuria: pathophysiology, clinical presentation, diagnosis and therapy. 61
30109410 2019
21
SLC34A3 Intronic Deletion in an Iranian Kindred with Hereditary Hypophosphatemic Rickets with Hypercalciuria 61
29809158 2018
22
Late-onset hereditary hypophosphatemic rickets with hypercalciuria (HHRH) due to mutation of SLC34A3/NPT2c. 61
27939817 2017
23
Hypophosphatemic rickets: lessons from disrupted FGF23 control of phosphorus homeostasis. 61
25620749 2015
24
[Genetic approach to nephrolithiasis]. 61
26479054 2015
25
Relationship between sodium-dependent phosphate transporter (NaPi-IIc) function and cellular vacuole formation in opossum kidney cells. 61
26399350 2015
26
Mutations in SLC34A3/NPT2c are associated with kidney stones and nephrocalcinosis. 61
24700880 2014
27
Renal-specific and inducible depletion of NaPi-IIc/Slc34a3, the cotransporter mutated in HHRH, does not affect phosphate or calcium homeostasis in mice. 61
24553430 2014
28
A compound heterozygous mutation in SLC34A3 causes hereditary hypophosphatemic rickets with hypercalciuria in a Chinese patient. 61
24246249 2014
29
Intronic deletions in the SLC34A3 gene: a cautionary tale for mutation analysis of hereditary hypophosphatemic rickets with hypercalciuria. 61
24176905 2014
30
Association between compound heterozygous mutations of SLC34A3 and hypercalciuria. 61
24924704 2014
31
[Updates on rickets and osteomalacia: the role of NaPi-2c/SLC34A3 and hypophosphataemic rickets]. 61
24076642 2013
32
Novel SLC34A3 mutation causing hereditary hypophosphataemic rickets with hypercalciuria in a Gambian family. 61
23246670 2013
33
Hereditary hypophosphatemic rickets with hypercalciuria: case report. 61
22806288 2012
34
SLC34A3 intronic deletion in a new kindred with hereditary hypophosphatemic rickets with hypercalciuria. 61
22672866 2012
35
Novel NaPi-IIc mutations causing HHRH and idiopathic hypercalciuria in several unrelated families: long-term follow-up in one kindred. 61
22387237 2012
36
Processing and stability of type IIc sodium-dependent phosphate cotransporter mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria. 61
22159077 2012
37
Identification and functional analysis of a splice variant of mouse sodium-dependent phosphate transporter Npt2c. 61
22450000 2012
38
Hereditary hypophosphatemic rickets with hypercalciuria and nephrolithiasis-identification of a novel SLC34A3/NaPi-IIc mutation. 61
21344632 2011
39
Genetic and clinical peculiarities in a new family with hereditary hypophosphatemic rickets with hypercalciuria: a case report. 61
20074341 2010
40
Hypophosphatemic rickets with hypercalciuria due to mutation in SLC34A3/type IIc sodium-phosphate cotransporter: presentation as hypercalciuria and nephrolithiasis. 61
19820004 2009
41
Npt2a and Npt2c in mice play distinct and synergistic roles in inorganic phosphate metabolism and skeletal development. 61
19570882 2009
42
The roles of Na/Pi-II transporters in phosphate metabolism. 61
19232403 2009
43
Hypophosphatemic rickets with hypercalciuria due to mutation in SLC34A3/NaPi-IIc can be masked by vitamin D deficiency and can be associated with renal calcifications. 61
18523928 2009
44
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. 61
18480181 2008
45
Novel NaPi-2c mutations that cause mistargeting of NaPi-2c protein and uncoupling of Na-Pi cotransport cause HHRH. 61
18524854 2008
46
Inherited hypophosphatemic disorders in children and the evolving mechanisms of phosphate regulation. 61
18365315 2008
47
Report of a family with two different hereditary diseases leading to early nephrocalcinosis. 61
17899212 2008
48
Hereditary hypophosphatemic rickets with hypercalciuria: a study for the phosphate transporter gene type IIc and osteoblastic function. 61
17968493 2007
49
[Hereditary hypophosphatemia in adults]. 61
16374396 2005
50
The role of fibroblast growth factor 23 for hypophosphatemia and abnormal regulation of vitamin D metabolism in patients with McCune-Albright syndrome. 61
15838626 2005
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Variations for Hypophosphatemic Rickets with Hypercalciuria, Hereditary

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

6 (show all 33) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLC34A3 NM_001177316.2(SLC34A3):c.1556dup (p.Pro520fs)duplication Pathogenic 438692 rs1554785333 9:140130619-140130620 9:137236167-137236168
2 SLC34A3 NM_001177316.2(SLC34A3):c.304+2T>CSNV Pathogenic 444092 rs201293634 9:140127157-140127157 9:137232705-137232705
3 SLC34A3 NM_001177316.2(SLC34A3):c.575C>G (p.Ser192Trp)SNV Pathogenic 444094 rs199690076 9:140127675-140127675 9:137233223-137233223
4 SLC34A3 NM_001177316.2(SLC34A3):c.1639_1652del (p.Arg547fs)deletion Pathogenic 444096 rs1554785389 9:140130702-140130715 9:137236250-137236263
5 SLC34A3 NM_001177316.2(SLC34A3):c.908del (p.Pro303fs)deletion Pathogenic 1426 rs794729658 9:140128373-140128373 9:137233921-137233921
6 SLC34A3 NM_001177316.2(SLC34A3):c.1058G>T (p.Arg353Leu)SNV Pathogenic 1427 rs121918234 9:140128693-140128693 9:137234241-137234241
7 SLC34A3 NM_001177316.2(SLC34A3):c.1238C>A (p.Ala413Glu)SNV Pathogenic 1428 rs121918235 9:140129086-140129086 9:137234634-137234634
8 SLC34A3 NM_001177316.2(SLC34A3):c.846G>A (p.Pro282=)SNV Pathogenic 1429 rs121918236 9:140128174-140128174 9:137233722-137233722
9 SLC34A3 NM_001177316.2(SLC34A3):c.228del (p.Cys77fs)deletion Pathogenic 1430 rs794729659 9:140127078-140127078 9:137232626-137232626
10 SLC34A3 NM_001177316.2(SLC34A3):c.586G>A (p.Gly196Arg)SNV Pathogenic 1431 rs121918237 9:140127686-140127686 9:137233234-137233234
11 SLC34A3 NM_001177316.2(SLC34A3):c.1402C>T (p.Arg468Trp)SNV Pathogenic 1432 rs121918238 9:140130470-140130470 9:137236018-137236018
12 SLC34A3 NM_001177316.2(SLC34A3):c.925+20_926-48deldeletion Pathogenic 1433 rs1554784044 9:140128413-140128513 9:137233910-137234010
13 SLC34A3 NM_001177316.2(SLC34A3):c.1093+41_1094-15deldeletion Pathogenic 1435 rs1554784508 9:140128753-140128837 9:137234301-137234385
14 SLC34A3 NM_001177316.2(SLC34A3):c.575C>T (p.Ser192Leu)SNV Pathogenic 198610 rs199690076 9:140127675-140127675 9:137233223-137233223
15 SLC34A3 NM_001177316.2(SLC34A3):c.448+1G>ASNV Pathogenic/Likely pathogenic 445687 rs150841256 9:140127380-140127380 9:137232928-137232928
16 SLC34A3 NM_001177316.2(SLC34A3):c.1561dup (p.Leu521fs)duplication Pathogenic/Likely pathogenic 444095 rs765816079 9:140130625-140130626 9:137236173-137236174
17 SLC34A3 NM_001177316.2(SLC34A3):c.448+5G>ASNV Likely pathogenic 444093 rs768893184 9:140127384-140127384 9:137232932-137232932
18 SLC34A3 NM_001177316.2(SLC34A3):c.1274C>T (p.Thr425Ile)SNV Likely pathogenic 397583 rs1060499697 9:140129122-140129122 9:137234670-137234670
19 SLC34A3 NM_001177316.2(SLC34A3):c.1386C>G (p.Tyr462Ter)SNV Likely pathogenic 829928 9:140130454-140130454 9:137236002-137236002
20 SLC34A3 NM_001177316.2(SLC34A3):c.560+27_561-38deldeletion Likely pathogenic 829929 9:140127590-140127619 9:137233138-137233167
21 SLC34A3 NM_001177316.2(SLC34A3):c.756G>A (p.Gln252=)SNV Conflicting interpretations of pathogenicity 1434 rs121918239 9:140127856-140127856 9:137233404-137233404
22 SLC34A3 NM_001177316.2(SLC34A3):c.1210G>A (p.Gly404Arg)SNV Uncertain significance 522468 rs759768852 9:140128984-140128984 9:137234532-137234532
23 SLC34A3 NM_001177316.2(SLC34A3):c.1211-36G>ASNV Uncertain significance 522469 rs748121039 9:140129023-140129023 9:137234571-137234571
24 SLC34A3 NM_001177316.2(SLC34A3):c.940G>A (p.Ala314Thr)SNV Uncertain significance 802548 9:140128575-140128575 9:137234123-137234123
25 SLC34A3 NM_001177316.2(SLC34A3):c.832A>G (p.Thr278Ala)SNV Uncertain significance 830033 9:140128160-140128160 9:137233708-137233708
26 SLC34A3 NM_001177316.2(SLC34A3):c.897C>G (p.Asn299Lys)SNV Uncertain significance 830041 9:140128365-140128365 9:137233913-137233913
27 SLC34A3 NM_001177316.2(SLC34A3):c.1142C>A (p.Ala381Glu)SNV Uncertain significance 829840 9:140128916-140128916 9:137234464-137234464
28 SLC34A3 NM_001177316.2(SLC34A3):c.1334A>G (p.Gln445Arg)SNV Uncertain significance 829961 9:140129182-140129182 9:137234730-137234730
29 SLC34A3 NM_001177316.2(SLC34A3):c.1453C>T (p.Arg485Cys)SNV Uncertain significance 860969 9:140130521-140130521 9:137236069-137236069
30 SLC34A3 NM_001177316.2(SLC34A3):c.790G>A (p.Gly264Ser)SNV Likely benign 284859 rs148072630 9:140128118-140128118 9:137233666-137233666
31 SLC34A3 NM_001177316.2(SLC34A3):c.1585A>T (p.Ile529Phe)SNV Benign/Likely benign 194278 rs140639805 9:140130653-140130653 9:137236201-137236201
32 SLC34A3 NM_001177316.2(SLC34A3):c.1454G>A (p.Arg485His)SNV Benign 194279 rs138872455 9:140130522-140130522 9:137236070-137236070
33 SLC34A3 NM_001177316.2(SLC34A3):c.757T>C (p.Leu253=)SNV Benign 281214 rs28407527 9:140128085-140128085 9:137233633-137233633

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

73
# 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

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Expression for Hypophosphatemic Rickets with Hypercalciuria, Hereditary

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

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

# Super pathways Score Top Affiliating Genes
1
Signaling by activated point mutants of FGFR3 65
Show member pathways
 11.09 GALNT3 FGF23
2
Parathyroid hormone synthesis, secretion and action 36
11.05 SLC34A3 SLC34A2 SLC34A1 PTH FGF23
3
Mineral absorption 36
10.9 SLC34A3 SLC34A2 SLC34A1
4
Surfactant metabolism 65
Show member pathways
 10.89 SLC34A2 SLC34A1
5
Osteoblast Signaling 1
10.3 PTH FGF23
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GO Terms for Hypophosphatemic Rickets with Hypercalciuria, Hereditary

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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 9.72 SLC34A2 SLC34A1 SLC20A2 PHEX ENPP1
2 cell GO:0005623 9.63 SLC34A3 SLC34A2 SLC34A1 PTH FGF23 ENPP1
3 vesicle GO:0031982 9.43 SLC34A3 SLC34A2 SLC34A1
4 brush border GO:0005903 9.13 SLC34A3 SLC34A2 SLC34A1
5 brush border membrane GO:0031526 8.8 SLC34A3 SLC34A2 SLC34A1

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.91 SLC34A3 SLC34A2 SLC34A1 SLC20A2
2 cellular protein metabolic process GO:0044267 9.76 SLC34A2 SLC34A1 FGF23 DMP1
3 sodium ion transmembrane transport GO:0035725 9.67 SLC34A3 SLC34A2 SLC20A2
4 sodium ion transport GO:0006814 9.67 SLC34A3 SLC34A2 SLC34A1 SLC20A2
5 response to cadmium ion GO:0046686 9.6 SLC34A1 PTH
6 regulation of bone mineralization GO:0030500 9.59 FGF23 ENPP1
7 response to lead ion GO:0010288 9.58 SLC34A1 PTH
8 phosphate-containing compound metabolic process GO:0006796 9.58 FGF23 ENPP1
9 biomineral tissue development GO:0031214 9.58 PHEX ENPP1 DMP1
10 response to vitamin D GO:0033280 9.57 PTH PHEX
11 phosphate ion transmembrane transport GO:0035435 9.56 SLC34A1 SLC20A2
12 negative regulation of bone mineralization GO:0030502 9.55 FGF23 ENPP1
13 response to growth hormone GO:0060416 9.54 SLC34A1 PHEX
14 cellular response to vitamin D GO:0071305 9.52 PHEX FGF23
15 response to magnesium ion GO:0032026 9.51 SLC34A1 FGF23
16 cellular response to parathyroid hormone stimulus GO:0071374 9.5 SLC34A1 PHEX FGF23
17 response to parathyroid hormone GO:0071107 9.48 SLC34A1 PTH
18 response to sodium phosphate GO:1904383 9.43 PHEX FGF23
19 phosphate ion homeostasis GO:0055062 9.43 SLC34A1 PTH FGF23
20 sodium-dependent phosphate transport GO:0044341 9.33 SLC34A3 SLC34A2 SLC34A1
21 phosphate ion transport GO:0006817 9.26 SLC34A3 SLC34A2 SLC34A1 SLC20A2
22 cellular phosphate ion homeostasis GO:0030643 9.02 SLC34A3 SLC34A2 SLC34A1 FGF23 ENPP1

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

# Name GO ID Score Top Affiliating Genes
1 symporter activity GO:0015293 9.46 SLC34A3 SLC34A2 SLC34A1 SLC20A2
2 sodium-dependent phosphate transmembrane transporter activity GO:0015321 9.13 SLC34A3 SLC34A2 SLC34A1
3 sodium:phosphate symporter activity GO:0005436 8.92 SLC34A3 SLC34A2 SLC34A1 SLC20A2
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Sources for Hypophosphatemic Rickets with Hypercalciuria, Hereditary

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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