HHRH
MCID: HYP789
MIFTS: 49

Hypophosphatemic Rickets with Hypercalciuria, Hereditary (HHRH)

Categories: Bone diseases, Endocrine diseases, Fetal 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 57 71
Hereditary Hypophosphatemic Rickets with Hypercalciuria 12 58 73 15
Hypophosphatemic Rickets with Hypercalciuria 57 13 6
Hhrh 57 58 73
Hypercalciuric Rickets 57 6

Characteristics:

Orphanet epidemiological data:

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

OMIM®:

57 (Updated 05-Mar-2021)
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:

Orphanet: 58  
Rare renal diseases
Rare bone diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


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) (Updated 05-Mar-2021)

MalaCards based summary : Hypophosphatemic Rickets with Hypercalciuria, Hereditary, also known as hereditary hypophosphatemic rickets with hypercalciuria, is related to hereditary hypophosphatemic rickets and bone disease, 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, cortex and kidney, and related phenotypes are hypercalciuria and increased circulating osteocalcin level

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.

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 top 50) (show all 78)
# Related Disease Score Top Affiliating Genes
1 hereditary hypophosphatemic rickets 31.9 SLC34A3 SLC34A1
2 bone disease 30.6 SLC34A3 PTH PHEX FGF23
3 dent disease 1 30.4 SLC34A3 SLC34A1
4 nephrocalcinosis 30.3 SLC34A3 SLC34A1 PHEX
5 nephrolithiasis 30.1 SLC34A3 SLC34A1 PTH FGF23
6 secondary hyperparathyroidism 29.9 PTH PHEX KL FGF23
7 primary hyperparathyroidism 29.9 PTH KL FGF23
8 nephrolithiasis/osteoporosis, hypophosphatemic, 1 29.8 SLC34A3 SLC34A1 PTH KL FGF23
9 hyperparathyroidism 29.7 PTH PHEX KL FGF23
10 chronic kidney disease 29.7 PTH KL FGF23 ENPP1
11 hypophosphatemic rickets, x-linked recessive 29.4 SLC34A3 SLC34A1 PHEX MEPE FGF23 ENPP1
12 fanconi syndrome 28.8 SLC34A3 SLC34A1 PTH PHEX FGF23 EMP1
13 rickets 28.7 SLC34A3 SLC34A1 PTH PHEX MEPE KL
14 hypophosphatemia 28.6 SLC34A3 SLC34A1 PTH PHEX MEPE KL
15 osteomalacia 28.5 SLC34A3 SLC34A1 PTH PHEX MEPE FGF23
16 hypophosphatemic rickets, autosomal dominant 27.8 SLC34A3 SLC34A1 PTH PHEX MEPE KL
17 hypophosphatemic rickets, x-linked dominant 27.3 SLC34A3 SLC34A1 SLC20A2 PTH PHEX MEPE
18 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis 11.3
19 hypercalciuria, absorptive, 2 10.5
20 opsismodysplasia 10.2 PHEX FGF23
21 hypophosphatemic nephrolithiasis/osteoporosis 10.2
22 hypercalcemia, infantile, 1 10.2 SLC34A1 PTH
23 calciphylaxis 10.2 PTH FGF23
24 osteitis fibrosa 10.2 PTH FGF23
25 fanconi renotubular syndrome 2 10.1 SLC34A3 SLC34A1 PHEX
26 testicular microlithiasis 10.1 SLC34A2 GALNT3
27 hepatocellular clear cell carcinoma 10.1 KL FGF23
28 renal osteodystrophy 10.1 PTH FGF23
29 basal ganglia disease 10.1 SLC20A2 PTH
30 hypophosphatasia, adult 10.1 PTH ENPP1
31 pseudohypoparathyroidism, type ib 10.0 SLC34A3 PTH
32 renal glucosuria 10.0
33 renal tubular acidosis 10.0
34 aminoaciduria 10.0
35 dwarfism 10.0
36 skin atrophy 10.0 KL FGF23
37 autosomal recessive disease 10.0
38 osteogenesis imperfecta, type vi 10.0 PHEX MEPE
39 spondylosis 10.0 PTH KL
40 angioid streaks 10.0 GALNT3 ENPP1
41 tracheal calcification 9.9 PTH KL FGF23
42 osseous heteroplasia, progressive 9.9 PTH ENPP1
43 parathyroid gland disease 9.9 PTH KL FGF23
44 hyperlipoproteinemia, type v 9.9 SLC34A2 KL FGF23
45 hypophosphatasia, childhood 9.9 SLC20A2 PTH ENPP1
46 nephrolithiasis, calcium oxalate 9.9
47 medullary sponge kidney 9.9
48 idiopathic hypercalciuria 9.9
49 hyperostosis 9.9 KL GALNT3 FGF23
50 suppurative thyroiditis 9.9 PTH EMP1

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:

58 31 (show all 50)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypercalciuria 58 31 hallmark (90%) Very frequent (99-80%) HP:0002150
2 increased circulating osteocalcin level 58 31 hallmark (90%) Very frequent (99-80%) HP:0031428
3 hyperphosphaturia 58 31 hallmark (90%) Very frequent (99-80%) HP:0003109
4 hypophosphatemic rickets 58 31 hallmark (90%) Very frequent (99-80%) HP:0004912
5 elevated alkaline phosphatase of bone origin 58 31 hallmark (90%) Very frequent (99-80%) HP:0010639
6 high serum calcitriol 58 31 hallmark (90%) Very frequent (99-80%) HP:0031415
7 increased circulating beta-c-terminal telopeptide level 58 31 hallmark (90%) Very frequent (99-80%) HP:0031425
8 decreased circulating parathyroid hormone level 58 31 hallmark (90%) Very frequent (99-80%) HP:0031817
9 nephrolithiasis 58 31 frequent (33%) Frequent (79-30%) HP:0000787
10 osteomalacia 58 31 frequent (33%) Frequent (79-30%) HP:0002749
11 bone pain 58 31 frequent (33%) Frequent (79-30%) HP:0002653
12 medullary nephrocalcinosis 58 31 frequent (33%) Frequent (79-30%) HP:0012408
13 short stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0004322
14 waddling gait 58 31 occasional (7.5%) Occasional (29-5%) HP:0002515
15 pathologic fracture 58 31 occasional (7.5%) Occasional (29-5%) HP:0002756
16 bowing of the legs 58 31 occasional (7.5%) Occasional (29-5%) HP:0002979
17 rachitic rosary 58 31 occasional (7.5%) Occasional (29-5%) HP:0000897
18 hypophosphatemia 58 31 Very frequent (99-80%) HP:0002148
19 growth delay 58 31 Frequent (79-30%) HP:0001510
20 failure to thrive 31 HP:0001508
21 frontal bossing 31 HP:0002007
22 muscle weakness 31 HP:0001324
23 renal tubular dysfunction 31 HP:0000124
24 rickets 31 HP:0002748
25 reduced bone mineral density 58 Frequent (79-30%)
26 abnormality of the skeletal system 58 Frequent (79-30%)
27 recurrent fractures 31 HP:0002757
28 flat occiput 31 HP:0005469
29 femoral bowing 31 HP:0002980
30 generalized hypotonia 31 HP:0001290
31 tibial bowing 31 HP:0002982
32 difficulty walking 31 HP:0002355
33 fibular bowing 31 HP:0010502
34 metaphyseal irregularity 31 HP:0003025
35 elevated alkaline phosphatase 31 HP:0003155
36 delayed epiphyseal ossification 31 HP:0002663
37 thin bony cortex 31 HP:0002753
38 difficulty standing 31 HP:0003698
39 renal phosphate wasting 31 HP:0000117
40 sparse bone trabeculae 31 HP:0002752
41 bulging epiphyses 31 HP:0003013
42 enlargement of the wrists 31 HP:0003020
43 enlargement of the ankles 31 HP:0003029
44 calcium nephrolithiasis 31 HP:0004724
45 widely patent fontanelles and sutures 31 HP:0004492
46 deformed rib cage 31 HP:0000886
47 enlargement of the costochondral junction 31 HP:0000920
48 hypotonia 31 HP:0001252
49 abnormal abdomen morphology 31 HP:0001438
50 bulging of the costochondral junction 31 HP:0000893

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Growth Other:
failure to thrive
growth retardation
poor growth

Muscle Soft Tissue:
muscle weakness
difficulty walking
difficulty standing
hypotonia

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)

Skeletal Skull:
widened cranial sutures
posterior flattening of the skull

Head And Neck Head:
frontal bossing

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
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 (Updated 05-Mar-2021)

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.07 ENPP1 FGF23 GALNT3 KL PHEX PTH
2 cardiovascular system MP:0005385 10.06 ENPP1 FGF23 GALNT3 KL PHEX PTH
3 homeostasis/metabolism MP:0005376 10.06 EMP1 ENPP1 FGF23 GALNT3 KL PHEX
4 craniofacial MP:0005382 9.91 ENPP1 GALNT3 KL PHEX PTH SLC20A2
5 digestive/alimentary MP:0005381 9.88 FGF23 GALNT3 KL PHEX SLC34A2 SLC34A3
6 immune system MP:0005387 9.86 ENPP1 FGF23 GALNT3 KL MEPE PHEX
7 limbs/digits/tail MP:0005371 9.63 ENPP1 FGF23 GALNT3 KL PHEX PTH
8 renal/urinary system MP:0005367 9.56 ENPP1 FGF23 GALNT3 KL PHEX SLC34A1
9 skeleton MP:0005390 9.32 ENPP1 FGF23 GALNT3 KL MEPE PHEX

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:

40
Bone, Cortex, Kidney

Publications for Hypophosphatemic Rickets with Hypercalciuria, Hereditary

Articles related to Hypophosphatemic Rickets with Hypercalciuria, Hereditary:

(show top 50) (show all 59)
# 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. 61 6 57
16358214 2006
2
Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3. 6 61 57
16358215 2006
3
Hereditary hypophosphatemic rickets with hypercalciuria. 6 57
2983203 1985
4
Intronic deletions in the SLC34A3 gene cause hereditary hypophosphatemic rickets with hypercalciuria. 6 61
16849419 2006
5
Hereditary hypophosphatemic rickets with hypercalciuria is not caused by mutations in the Na/Pi cotransporter NPT2 gene. 61 57
11181798 2001
6
Targeted inactivation of Npt2 in mice leads to severe renal phosphate wasting, hypercalciuria, and skeletal abnormalities. 61 57
9560283 1998
7
A new kindred with hereditary hypophosphatemic rickets with hypercalciuria: implications for correct diagnosis and treatment. 61 57
1436310 1992
8
"Idiopathic" hypercalciuria and hereditary hypophosphatemic rickets. Two phenotypical expressions of a common genetic defect. 61 57
3796683 1987
9
Hypercalciuric hypophosphatemic rickets, mineral balance, bone histomorphometry, and therapeutic implications of hypercalciuria. 57
2787497 1989
10
Autosomal dominant hypophosphataemia with elevated serum 1,25 dihydroxyvitamin D and hypercalciuria. 57
3153320 1987
11
[Familial form of idiopathic hypercalciuria with nanism, bone and renal involvement in children]. 57
521301 1979
12
Influence of phosphate depletion on the biosynthesis and circulating level of 1alpha,25-dihydroxyvitamin D. 57
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
Hereditary Hypophosphatemic Rickets with Hypercalciuria (HHRH) Presenting with Genu Valgum Deformity: Treatment with Phosphate Supplementation and Surgical Correction. 61
32695531 2020
17
Description of a novel SLC34A3.c.671delT mutation causing hereditary hypophosphatemic rickets with hypercalciuria in two adolescent boys and response to recombinant human growth hormone. 61
32963591 2020
18
Evaluating pathogenicity of SLC34A3-Ser192Leu, a frequent European missense variant in disorders of renal phosphate wasting. 61
30798342 2019
19
Revision shoulder arthroplasty for failed humeral head resurfacing hemiarthroplasty. 61
31447943 2019
20
Phosphate matters when investigating hypercalcemia: a mutation in SLC34A3 causing HHRH 61
31352694 2019
21
Analysis of opossum kidney NaPi-IIc sodium-dependent phosphate transporter to understand Pi handling in human kidney. 61
30317447 2019
22
Hereditary hypophosphatemic rickets with hypercalciuria: pathophysiology, clinical presentation, diagnosis and therapy. 61
30109410 2019
23
SLC34A3 Intronic Deletion in an Iranian Kindred with Hereditary Hypophosphatemic Rickets with Hypercalciuria 61
29809158 2018
24
Late-onset hereditary hypophosphatemic rickets with hypercalciuria (HHRH) due to mutation of SLC34A3/NPT2c. 61
27939817 2017
25
Hypophosphatemic rickets: lessons from disrupted FGF23 control of phosphorus homeostasis. 61
25620749 2015
26
[Genetic approach to nephrolithiasis]. 61
26479054 2015
27
Relationship between sodium-dependent phosphate transporter (NaPi-IIc) function and cellular vacuole formation in opossum kidney cells. 61
26399350 2015
28
Mutations in SLC34A3/NPT2c are associated with kidney stones and nephrocalcinosis. 61
24700880 2014
29
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
30
Intronic deletions in the SLC34A3 gene: a cautionary tale for mutation analysis of hereditary hypophosphatemic rickets with hypercalciuria. 61
24176905 2014
31
A compound heterozygous mutation in SLC34A3 causes hereditary hypophosphatemic rickets with hypercalciuria in a Chinese patient. 61
24246249 2014
32
Association between compound heterozygous mutations of SLC34A3 and hypercalciuria. 61
24924704 2014
33
[Updates on rickets and osteomalacia: the role of NaPi-2c/SLC34A3 and hypophosphataemic rickets]. 61
24076642 2013
34
Novel SLC34A3 mutation causing hereditary hypophosphataemic rickets with hypercalciuria in a Gambian family. 61
23246670 2013
35
Hereditary hypophosphatemic rickets with hypercalciuria: case report. 61
22806288 2012
36
SLC34A3 intronic deletion in a new kindred with hereditary hypophosphatemic rickets with hypercalciuria. 61
22672866 2012
37
Processing and stability of type IIc sodium-dependent phosphate cotransporter mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria. 61
22159077 2012
38
Novel NaPi-IIc mutations causing HHRH and idiopathic hypercalciuria in several unrelated families: long-term follow-up in one kindred. 61
22387237 2012
39
Identification and functional analysis of a splice variant of mouse sodium-dependent phosphate transporter Npt2c. 61
22450000 2012
40
Hereditary hypophosphatemic rickets with hypercalciuria and nephrolithiasis-identification of a novel SLC34A3/NaPi-IIc mutation. 61
21344632 2011
41
Genetic and clinical peculiarities in a new family with hereditary hypophosphatemic rickets with hypercalciuria: a case report. 61
20074341 2010
42
Hypophosphatemic rickets with hypercalciuria due to mutation in SLC34A3/type IIc sodium-phosphate cotransporter: presentation as hypercalciuria and nephrolithiasis. 61
19820004 2009
43
Npt2a and Npt2c in mice play distinct and synergistic roles in inorganic phosphate metabolism and skeletal development. 61
19570882 2009
44
The roles of Na/Pi-II transporters in phosphate metabolism. 61
19232403 2009
45
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
46
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
47
Novel NaPi-2c mutations that cause mistargeting of NaPi-2c protein and uncoupling of Na-Pi cotransport cause HHRH. 61
18524854 2008
48
Inherited hypophosphatemic disorders in children and the evolving mechanisms of phosphate regulation. 61
18365315 2008
49
Report of a family with two different hereditary diseases leading to early nephrocalcinosis. 61
17899212 2008
50
Hereditary hypophosphatemic rickets with hypercalciuria: a study for the phosphate transporter gene type IIc and osteoblastic function. 61
17968493 2007

Variations for Hypophosphatemic Rickets with Hypercalciuria, Hereditary

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

6 (show all 36)
# 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.1639_1652del (p.Arg547fs) Deletion Pathogenic 444096 rs1554785389 9:140130702-140130715 9:137236250-137236263
3 SLC34A3 NM_001177316.2(SLC34A3):c.575C>T (p.Ser192Leu) SNV Pathogenic 198610 rs199690076 9:140127675-140127675 9:137233223-137233223
4 SLC34A3 NM_001177316.2(SLC34A3):c.448+1G>A SNV Pathogenic 445687 rs150841256 9:140127380-140127380 9:137232928-137232928
5 SLC34A3 NM_001177316.2(SLC34A3):c.846G>A (p.Pro282=) SNV Pathogenic 1429 rs121918236 9:140128174-140128174 9:137233722-137233722
6 SLC34A3 NM_001177316.2(SLC34A3):c.304+2T>C SNV Pathogenic 444092 rs201293634 9:140127157-140127157 9:137232705-137232705
7 SLC34A3 NM_001177316.2(SLC34A3):c.575C>G (p.Ser192Trp) SNV Pathogenic 444094 rs199690076 9:140127675-140127675 9:137233223-137233223
8 SLC34A3 NM_001177316.2(SLC34A3):c.1561dup (p.Leu521fs) Duplication Pathogenic 444095 rs765816079 9:140130625-140130626 9:137236173-137236174
9 SLC34A3 NM_001177316.2(SLC34A3):c.1093+41_1094-15del Deletion Pathogenic 1435 rs1554784508 9:140128753-140128837 9:137234301-137234385
10 SLC34A3 NM_001177316.2(SLC34A3):c.925+20_926-48del Deletion Pathogenic 1433 rs1554784044 9:140128413-140128513 9:137233910-137234010
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.586G>A (p.Gly196Arg) SNV Pathogenic 1431 rs121918237 9:140127686-140127686 9:137233234-137233234
13 SLC34A3 NM_001177316.2(SLC34A3):c.228del (p.Cys77fs) Deletion Pathogenic 1430 rs794729659 9:140127078-140127078 9:137232626-137232626
14 SLC34A3 NM_001177316.2(SLC34A3):c.1238C>A (p.Ala413Glu) SNV Pathogenic 1428 rs121918235 9:140129086-140129086 9:137234634-137234634
15 SLC34A3 NM_001177316.2(SLC34A3):c.1058G>T (p.Arg353Leu) SNV Pathogenic 1427 rs121918234 9:140128693-140128693 9:137234241-137234241
16 SLC34A3 NM_001177316.2(SLC34A3):c.908del (p.Pro303fs) Deletion Pathogenic 1426 rs794729658 9:140128373-140128373 9:137233921-137233921
17 SLC34A3 NM_001177316.2(SLC34A3):c.448+1G>A SNV Likely pathogenic 445687 rs150841256 9:140127380-140127380 9:137232928-137232928
18 SLC34A3 NM_001177316.2(SLC34A3):c.448+5G>A SNV Likely pathogenic 444093 rs768893184 9:140127384-140127384 9:137232932-137232932
19 SLC34A3 NM_001177316.2(SLC34A3):c.846G>A (p.Pro282=) SNV Likely pathogenic 1429 rs121918236 9:140128174-140128174 9:137233722-137233722
20 SLC34A3 NM_001177316.2(SLC34A3):c.1274C>T (p.Thr425Ile) SNV Likely pathogenic 397583 rs1060499697 9:140129122-140129122 9:137234670-137234670
21 SLC34A3 NM_001177316.2(SLC34A3):c.1386C>G (p.Tyr462Ter) SNV Likely pathogenic 829928 rs777986863 9:140130454-140130454 9:137236002-137236002
22 SLC34A3 NM_001177316.2(SLC34A3):c.560+27_561-38del Deletion Likely pathogenic 829929 rs746082077 9:140127590-140127619 9:137233138-137233167
23 SLC34A3 NM_001177316.2(SLC34A3):c.756G>A (p.Gln252=) SNV Conflicting interpretations of pathogenicity 1434 rs121918239 9:140127856-140127856 9:137233404-137233404
24 SLC34A3 NM_001177316.2(SLC34A3):c.940G>A (p.Ala314Thr) SNV Uncertain significance 802548 rs1332288437 9:140128575-140128575 9:137234123-137234123
25 SLC34A3 NM_001177316.2(SLC34A3):c.1334A>G (p.Gln445Arg) SNV Uncertain significance 829961 rs1588849958 9:140129182-140129182 9:137234730-137234730
26 SLC34A3 NM_001177316.2(SLC34A3):c.832A>G (p.Thr278Ala) SNV Uncertain significance 830033 rs760162354 9:140128160-140128160 9:137233708-137233708
27 SLC34A3 NM_001177316.2(SLC34A3):c.897C>G (p.Asn299Lys) SNV Uncertain significance 830041 rs1588846765 9:140128365-140128365 9:137233913-137233913
28 SLC34A3 NM_001177316.2(SLC34A3):c.1210G>A (p.Gly404Arg) SNV Uncertain significance 522468 rs759768852 9:140128984-140128984 9:137234532-137234532
29 SLC34A3 NM_001177316.2(SLC34A3):c.1211-36G>A SNV Uncertain significance 522469 rs748121039 9:140129023-140129023 9:137234571-137234571
30 SLC34A3 NM_001177316.2(SLC34A3):c.980T>C (p.Leu327Pro) SNV Uncertain significance 930232 9:140128615-140128615 9:137234163-137234163
31 SLC34A3 NM_001177316.2(SLC34A3):c.1453C>T (p.Arg485Cys) SNV Uncertain significance 860969 9:140130521-140130521 9:137236069-137236069
32 SLC34A3 NM_001177316.2(SLC34A3):c.1142C>A (p.Ala381Glu) SNV Uncertain significance 829840 rs374826755 9:140128916-140128916 9:137234464-137234464
33 SLC34A3 NM_001177316.2(SLC34A3):c.790G>A (p.Gly264Ser) SNV Likely benign 284859 rs148072630 9:140128118-140128118 9:137233666-137233666
34 SLC34A3 NM_001177316.2(SLC34A3):c.1454G>A (p.Arg485His) SNV Benign 194279 rs138872455 9:140130522-140130522 9:137236070-137236070
35 SLC34A3 NM_001177316.2(SLC34A3):c.1585A>T (p.Ile529Phe) SNV Benign 194278 rs140639805 9:140130653-140130653 9:137236201-137236201
36 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

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 integral component of membrane GO:0016021 10.02 SLC34A3 SLC34A2 SLC34A1 SLC20A2 PHEX KL
2 integral component of plasma membrane GO:0005887 9.73 SLC34A2 SLC34A1 SLC20A2 PHEX KL ENPP1
3 vesicle GO:0031982 9.5 SLC34A3 SLC34A2 SLC34A1
4 apical plasma membrane GO:0016324 9.46 SLC34A3 SLC34A2 SLC34A1 KL
5 brush border GO:0005903 9.13 SLC34A3 SLC34A2 SLC34A1
6 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 27)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.93 SLC34A3 SLC34A2 SLC34A1 SLC20A2
2 cellular protein metabolic process GO:0044267 9.81 SLC34A2 SLC34A1 MEPE FGF23
3 skeletal system development GO:0001501 9.77 PTH PHEX MEPE
4 sodium ion transport GO:0006814 9.71 SLC34A3 SLC34A2 SLC34A1 SLC20A2
5 fibroblast growth factor receptor signaling pathway GO:0008543 9.7 KL GALNT3 FGF23
6 sodium ion transmembrane transport GO:0035725 9.67 SLC34A3 SLC34A2 SLC34A1 SLC20A2
7 positive regulation of bone mineralization GO:0030501 9.63 PTH KL
8 calcium ion homeostasis GO:0055074 9.62 PTH KL
9 response to cadmium ion GO:0046686 9.62 SLC34A1 PTH
10 regulation of bone mineralization GO:0030500 9.61 FGF23 ENPP1
11 response to lead ion GO:0010288 9.61 SLC34A1 PTH
12 biomineral tissue development GO:0031214 9.61 PHEX MEPE ENPP1
13 phosphate-containing compound metabolic process GO:0006796 9.6 FGF23 ENPP1
14 response to vitamin D GO:0033280 9.58 PTH PHEX
15 negative regulation of bone mineralization GO:0030502 9.58 FGF23 ENPP1
16 phosphate ion transmembrane transport GO:0035435 9.57 SLC34A1 SLC20A2
17 response to growth hormone GO:0060416 9.56 SLC34A1 PHEX
18 cellular response to vitamin D GO:0071305 9.55 PHEX FGF23
19 response to magnesium ion GO:0032026 9.54 SLC34A1 FGF23
20 cellular response to parathyroid hormone stimulus GO:0071374 9.5 SLC34A1 PHEX FGF23
21 response to parathyroid hormone GO:0071107 9.49 SLC34A1 PTH
22 positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway GO:0090080 9.48 KL FGF23
23 response to sodium phosphate GO:1904383 9.46 PHEX FGF23
24 phosphate ion homeostasis GO:0055062 9.43 SLC34A1 PTH FGF23
25 sodium-dependent phosphate transport GO:0044341 9.33 SLC34A3 SLC34A2 SLC34A1
26 phosphate ion transport GO:0006817 9.26 SLC34A3 SLC34A2 SLC34A1 SLC20A2
27 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 9.26 SLC34A3 SLC34A2 SLC34A1 SLC20A2
2 fibroblast growth factor receptor binding GO:0005104 9.16 KL FGF23
3 sodium:phosphate symporter activity GO:0005436 8.92 SLC34A3 SLC34A2 SLC34A1 SLC20A2

Sources for Hypophosphatemic Rickets with Hypercalciuria, Hereditary

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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