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HHRH
MCID: HYP789
MIFTS: 49

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
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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 57 72
Hereditary Hypophosphatemic Rickets with Hypercalciuria 12 59 74 15
Hhrh 57 59 74
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:
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: 34
Orphanet: 59  
Rare renal diseases
Rare bone diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0050947
OMIM 57 241530
ICD10 via Orphanet 34 E83.3
UMLS via Orphanet 73 C1853271
Orphanet 59 ORPHA157215
UMLS 72 C1853271
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Summaries for Hypophosphatemic Rickets with Hypercalciuria, Hereditary

About this section
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 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 Negative regulation of FGFR1 signaling and Signaling by FGFR2. 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 : 74 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 53)
# Related Disease Score Top Affiliating Genes
1 hereditary hypophosphatemic rickets 31.3 SLC34A3 SLC34A1
2 bone disease 30.7 SLC34A3 PTH FGF23
3 nephrocalcinosis 30.5 SLC34A3 SLC34A1 PTH PHEX
4 hyperparathyroidism 29.8 PTH PHEX FGF23 CYP27B1
5 osteomalacia 29.6 SFRP4 PTH PHEX FGF23 DMP1
6 hypophosphatemic rickets, x-linked dominant 29.2 SLC34A3 SLC34A1 PTH PHEX KL FGF23
7 hypophosphatemic rickets, autosomal dominant 28.7 SLC34A3 SFRP4 PHEX MEPE GALNT3 FGF23
8 hypophosphatemia 28.6 SLC34A3 SLC34A1 SFRP4 PTH PHEX FGF23
9 rickets 28.5 SLC34A3 SLC34A1 PTH PHEX FGF23 ENPP1
10 hypophosphatemic rickets, x-linked recessive 26.9 SLC34A3 SLC34A1 SFRP4 PHEX MEPE FGF23
11 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis 11.5
12 hypercalciuria, absorptive, 2 10.6
13 raine syndrome 10.4 FGF23 DMP1
14 opsismodysplasia 10.4 PHEX FGF23
15 tracheal calcification 10.4 KL FGF23
16 calciphylaxis 10.4 PTH FGF23
17 impaired renal function disease 10.3 PTH FGF23
18 enthesopathy 10.3 PHEX FGF23 DMP1
19 testicular microlithiasis 10.3 SLC34A2 GALNT3
20 nephrolithiasis, calcium oxalate 10.3
21 autosomal recessive disease 10.3
22 dent disease 1 10.3
23 secondary hyperparathyroidism 10.3
24 bone remodeling disease 10.2 PTH PHEX FGF23
25 renal glucosuria 10.2
26 primary hyperparathyroidism 10.2
27 renal tubular acidosis 10.2
28 aminoaciduria 10.2
29 dwarfism 10.2
30 vitamin d-dependent rickets, type 2a 10.1 PHEX CYP27B1
31 fanconi syndrome 10.1
32 medullary sponge kidney 10.1
33 idiopathic hypercalciuria 10.1
34 arterial calcification of infancy 10.1 PHEX FGF23 ENPP1
35 tumoral calcinosis, hyperphosphatemic, familial, 1 10.1 KL GALNT3 FGF23
36 hypophosphatasia 10.1 PHEX ENPP1
37 hypophosphatasia, adult 10.0 PTH ENPP1
38 urinary system disease 10.0 PTH KL FGF23
39 hyperostosis 10.0 KL GALNT3 FGF23
40 spondylosis 10.0 PTH KL
41 lacrimoauriculodentodigital syndrome 9.9 GALNT3 FGF7 FGF23
42 secondary hyperparathyroidism of renal origin 9.9 PTH FGF23 CYP27B1
43 metaphyseal chondrodysplasia, jansen type 9.9 PTH FGF23
44 familial tumoral calcinosis 9.9 PHEX KL GALNT3 FGF23
45 pulmonary alveolar microlithiasis 9.8 SLC34A3 SLC34A2 SLC34A1 PTH FGF23
46 autosomal recessive hypophosphatemic rickets 9.5 PHEX GALNT3 FGF23 ENPP1 DMP1
47 calcinosis 9.4 PHEX KL GALNT3 FGF23 ENPP1
48 mineral metabolism disease 9.4 SLC34A3 PTH PHEX KL GALNT3 FGF23
49 hyperphosphatemia 9.3 SLC34A1 PTH PHEX KL GALNT3 FGF23
50 hypervitaminosis d 9.2 PTH KL GALNT3 FGF23 CYP27B1

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:

59 32 (show all 38)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypophosphatemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002148
2 rickets 59 32 hallmark (90%) Very frequent (99-80%) HP:0002748
3 hypercalciuria 59 32 hallmark (90%) Very frequent (99-80%) HP:0002150
4 osteomalacia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002749
5 muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0001324
6 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
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 generalized hypotonia 32 HP:0001290
13 growth delay 32 HP:0001510
14 recurrent fractures 32 HP:0002757
15 flat occiput 32 HP:0005469
16 difficulty walking 32 HP:0002355
17 femoral bowing 32 HP:0002980
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 difficulty standing 32 HP:0003698
23 hypophosphatemic rickets 32 HP:0004912
24 delayed epiphyseal ossification 32 HP:0002663
25 thin bony cortex 32 HP:0002753
26 fibular bowing 32 HP:0010502
27 renal phosphate wasting 32 HP:0000117
28 sparse bone trabeculae 32 HP:0002752
29 bulging epiphyses 32 HP:0003013
30 enlargement of the wrists 32 HP:0003020
31 metaphyseal irregularity 32 HP:0003025
32 enlargement of the ankles 32 HP:0003029
33 increased serum 1,25-dihydroxyvitamin d3 32 HP:0003152
34 deformed rib cage 32 HP:0000886
35 enlargement of the costochondral junction 32 HP:0000920
36 calcium nephrolithiasis 32 HP:0004724
37 abnormality of abdomen morphology 32 HP:0001438
38 bulging of the costochondral junction 32 HP:0000893

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)

Skeletal Skull:
widened cranial sutures
posterior flattening of the skull

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
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:

46 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.28 CYP27B1 DMP1 ENPP1 FGF23 FGF7 GALNT3
2 cardiovascular system MP:0005385 10.21 DMP1 ENPP1 FGF23 GALNT3 KL PHEX
3 homeostasis/metabolism MP:0005376 10.21 CYP27B1 DMP1 ENPP1 FGF23 FGF7 GALNT3
4 hematopoietic system MP:0005397 10.14 CYP27B1 DMP1 FGF23 FGF7 GALNT3 KL
5 immune system MP:0005387 10.1 CYP27B1 DMP1 ENPP1 FGF23 FGF7 GALNT3
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 endocrine/exocrine gland MP:0005379 10 CYP27B1 FGF23 GALNT3 KL PHEX PTH
9 renal/urinary system MP:0005367 9.93 CYP27B1 DMP1 ENPP1 FGF23 FGF7 GALNT3
10 adipose tissue MP:0005375 9.92 CYP27B1 ENPP1 KL PHEX SLC20A2
11 limbs/digits/tail MP:0005371 9.91 CYP27B1 DMP1 ENPP1 FGF23 GALNT3 KL
12 reproductive system MP:0005389 9.5 CYP27B1 FGF23 FGF7 GALNT3 KL SFRP4
13 skeleton MP:0005390 9.47 CYP27B1 DMP1 ENPP1 FGF23 FGF7 GALNT3
Sources

Drugs & Therapeutics for Hypophosphatemic Rickets with Hypercalciuria, Hereditary

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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

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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:

41
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 53)
# 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. 38 8 71
16358214 2006
2
Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3. 38 8 71
16358215 2006
3
Hereditary hypophosphatemic rickets with hypercalciuria. 8 71
2983203 1985
4
Intronic deletions in the SLC34A3 gene cause hereditary hypophosphatemic rickets with hypercalciuria. 38 71
16849419 2006
5
Hereditary hypophosphatemic rickets with hypercalciuria is not caused by mutations in the Na/Pi cotransporter NPT2 gene. 38 8
11181798 2001
6
Targeted inactivation of Npt2 in mice leads to severe renal phosphate wasting, hypercalciuria, and skeletal abnormalities. 38 8
9560283 1998
7
A new kindred with hereditary hypophosphatemic rickets with hypercalciuria: implications for correct diagnosis and treatment. 38 8
1436310 1992
8
"Idiopathic" hypercalciuria and hereditary hypophosphatemic rickets. Two phenotypical expressions of a common genetic defect. 38 8
3796683 1987
9
Hypercalciuric hypophosphatemic rickets, mineral balance, bone histomorphometry, and therapeutic implications of hypercalciuria. 8
2787497 1989
10
Autosomal dominant hypophosphataemia with elevated serum 1,25 dihydroxyvitamin D and hypercalciuria. 8
3153320 1987
11
[Familial form of idiopathic hypercalciuria with nanism, bone and renal involvement in children]. 8
521301 1979
12
Influence of phosphate depletion on the biosynthesis and circulating level of 1alpha,25-dihydroxyvitamin D. 8
899927 1977
13
Phosphate matters when investigating hypercalcemia: a mutation in SLC34A3 causing HHRH 38
31352694 2019
14
Analysis of opossum kidney NaPi-IIc sodium-dependent phosphate transporter to understand Pi handling in human kidney. 38
30317447 2019
15
Evaluating pathogenicity of SLC34A3-Ser192Leu, a frequent European missense variant in disorders of renal phosphate wasting. 38
30798342 2019
16
Hereditary hypophosphatemic rickets with hypercalciuria: pathophysiology, clinical presentation, diagnosis and therapy. 38
30109410 2019
17
SLC34A3 Intronic Deletion in an Iranian Kindred with Hereditary Hypophosphatemic Rickets with Hypercalciuria 38
29809158 2018
18
Late-onset hereditary hypophosphatemic rickets with hypercalciuria (HHRH) due to mutation of SLC34A3/NPT2c. 38
27939817 2017
19
Hypophosphatemic rickets: lessons from disrupted FGF23 control of phosphorus homeostasis. 38
25620749 2015
20
[Genetic approach to nephrolithiasis]. 38
26479054 2015
21
Relationship between sodium-dependent phosphate transporter (NaPi-IIc) function and cellular vacuole formation in opossum kidney cells. 38
26399350 2015
22
Mutations in SLC34A3/NPT2c are associated with kidney stones and nephrocalcinosis. 38
24700880 2014
23
Renal-specific and inducible depletion of NaPi-IIc/Slc34a3, the cotransporter mutated in HHRH, does not affect phosphate or calcium homeostasis in mice. 38
24553430 2014
24
Intronic deletions in the SLC34A3 gene: a cautionary tale for mutation analysis of hereditary hypophosphatemic rickets with hypercalciuria. 38
24176905 2014
25
A compound heterozygous mutation in SLC34A3 causes hereditary hypophosphatemic rickets with hypercalciuria in a Chinese patient. 38
24246249 2014
26
Association between compound heterozygous mutations of SLC34A3 and hypercalciuria. 38
24924704 2014
27
[Updates on rickets and osteomalacia: the role of NaPi-2c/SLC34A3 and hypophosphataemic rickets]. 38
24076642 2013
28
Novel SLC34A3 mutation causing hereditary hypophosphataemic rickets with hypercalciuria in a Gambian family. 38
23246670 2013
29
Hereditary hypophosphatemic rickets with hypercalciuria: case report. 38
22806288 2012
30
SLC34A3 intronic deletion in a new kindred with hereditary hypophosphatemic rickets with hypercalciuria. 38
22672866 2012
31
Novel NaPi-IIc mutations causing HHRH and idiopathic hypercalciuria in several unrelated families: long-term follow-up in one kindred. 38
22387237 2012
32
Processing and stability of type IIc sodium-dependent phosphate cotransporter mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria. 38
22159077 2012
33
Identification and functional analysis of a splice variant of mouse sodium-dependent phosphate transporter Npt2c. 38
22450000 2012
34
Hereditary hypophosphatemic rickets with hypercalciuria and nephrolithiasis-identification of a novel SLC34A3/NaPi-IIc mutation. 38
21344632 2011
35
Genetic and clinical peculiarities in a new family with hereditary hypophosphatemic rickets with hypercalciuria: a case report. 38
20074341 2010
36
Hypophosphatemic rickets with hypercalciuria due to mutation in SLC34A3/type IIc sodium-phosphate cotransporter: presentation as hypercalciuria and nephrolithiasis. 38
19820004 2009
37
Npt2a and Npt2c in mice play distinct and synergistic roles in inorganic phosphate metabolism and skeletal development. 38
19570882 2009
38
The roles of Na/Pi-II transporters in phosphate metabolism. 38
19232403 2009
39
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. 38
18523928 2009
40
Novel NaPi-2c mutations that cause mistargeting of NaPi-2c protein and uncoupling of Na-Pi cotransport cause HHRH. 38
18524854 2008
41
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. 38
18480181 2008
42
Inherited hypophosphatemic disorders in children and the evolving mechanisms of phosphate regulation. 38
18365315 2008
43
Report of a family with two different hereditary diseases leading to early nephrocalcinosis. 38
17899212 2008
44
Hereditary hypophosphatemic rickets with hypercalciuria: a study for the phosphate transporter gene type IIc and osteoblastic function. 38
17968493 2007
45
[Hereditary hypophosphatemia in adults]. 38
16374396 2005
46
The role of fibroblast growth factor 23 for hypophosphatemia and abnormal regulation of vitamin D metabolism in patients with McCune-Albright syndrome. 38
15838626 2005
47
Cooperation of the V1/V2 and V3 domains of human immunodeficiency virus type 1 gp120 for interaction with the CXCR4 receptor. 38
11356952 2001
48
Autosomal recessive hypophosphataemic rickets with hypercalciuria is not caused by mutations in the type II renal sodium/phosphate cotransporter gene. 38
11208993 2001
49
Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23. 38
11062477 2000
50
Hypophosphatemic rickets accompanying congenital microvillous atrophy. 38
9844114 1998
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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 22)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SLC34A3 NM_080877.2(SLC34A3): c.1556dupG duplication Pathogenic rs1554785333 9:140130624-140130624 9:137236172-137236172
2 SLC34A3 NM_080877.2(SLC34A3): c.304+2T> C single nucleotide variant Pathogenic rs201293634 9:140127157-140127157 9:137232705-137232705
3 SLC34A3 NM_080877.2(SLC34A3): c.575C> G (p.Ser192Trp) single nucleotide variant Pathogenic rs199690076 9:140127675-140127675 9:137233223-137233223
4 SLC34A3 NM_080877.2(SLC34A3): c.1639_1652del (p.Arg547fs) deletion Pathogenic rs1554785389 9:140130702-140130715 9:137236255-137236268
5 SLC34A3 NM_080877.2(SLC34A3): c.908del (p.Pro303fs) deletion Pathogenic rs794729658 9:140128376-140128376 9:137233924-137233924
6 SLC34A3 NM_080877.2(SLC34A3): c.1058G> T (p.Arg353Leu) single nucleotide variant Pathogenic rs121918234 9:140128693-140128693 9:137234241-137234241
7 SLC34A3 NM_080877.2(SLC34A3): c.1238C> A (p.Ala413Glu) single nucleotide variant Pathogenic rs121918235 9:140129086-140129086 9:137234634-137234634
8 SLC34A3 NM_080877.2(SLC34A3): c.846G> A (p.Pro282=) single nucleotide variant Pathogenic rs121918236 9:140128174-140128174 9:137233722-137233722
9 SLC34A3 NM_080877.2(SLC34A3): c.228del (p.Cys77fs) deletion Pathogenic rs794729659 9:140127079-140127079 9:137232627-137232627
10 SLC34A3 NM_080877.2(SLC34A3): c.586G> A (p.Gly196Arg) single nucleotide variant Pathogenic rs121918237 9:140127686-140127686 9:137233234-137233234
11 SLC34A3 NM_080877.2(SLC34A3): c.1402C> T (p.Arg468Trp) single nucleotide variant Pathogenic rs121918238 9:140130470-140130470 9:137236018-137236018
12 SLC34A3 NM_080877.2(SLC34A3): c.925+20_926-48del deletion Pathogenic rs1554784044 9:140128413-140128513 9:137233961-137234061
13 SLC34A3 NM_080877.2(SLC34A3): c.756G> A (p.Gln252=) single nucleotide variant Pathogenic rs121918239 9:140127856-140127856 9:137233404-137233404
14 SLC34A3 NM_080877.2(SLC34A3): c.1093+41_1094-15del deletion Pathogenic rs1554784508 9:140128769-140128853 9:137234317-137234401
15 SLC34A3 NM_080877.2(SLC34A3): c.575C> T (p.Ser192Leu) single nucleotide variant Pathogenic rs199690076 9:140127675-140127675 9:137233223-137233223
16 SLC34A3 NM_080877.2(SLC34A3): c.448+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs150841256 9:140127380-140127380 9:137232928-137232928
17 SLC34A3 NM_080877.2(SLC34A3): c.1561dupC duplication Pathogenic/Likely pathogenic rs765816079 9:140130629-140130629 9:137236177-137236177
18 SLC34A3 NM_080877.2(SLC34A3): c.448+5G> A single nucleotide variant Likely pathogenic rs768893184 9:140127384-140127384 9:137232932-137232932
19 SLC34A3 NM_080877.2(SLC34A3): c.1274C> T (p.Thr425Ile) single nucleotide variant Likely pathogenic rs1060499697 9:140129122-140129122 9:137234670-137234670
20 SLC34A3 NM_080877.2(SLC34A3): c.1210G> A (p.Gly404Arg) single nucleotide variant Uncertain significance rs759768852 9:140128984-140128984 9:137234532-137234532
21 SLC34A3 NM_080877.2(SLC34A3): c.1211-36G> A single nucleotide variant Uncertain significance rs748121039 9:140129023-140129023 9:137234571-137234571
22 SLC34A3 NM_080877.2(SLC34A3): c.757T> C (p.Leu253=) single nucleotide variant Benign rs28407527 9:140128085-140128085 9:137233633-137233633

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

74
# 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
Negative regulation of FGFR1 signaling 66
Show member pathways
 12.15 KL GALNT3 FGF7 FGF23
2
Signaling by FGFR2 66
Show member pathways
 11.54 KL GALNT3 FGF7 FGF23
3
Parathyroid hormone synthesis, secretion and action 37
11.19 SLC34A3 SLC34A2 SLC34A1 PTH KL FGF23
4
Osteoblast Signaling 1
10.4 PTH FGF23
5
Vitamin D Metabolism 1
10.16 PTH CYP27B1
Sources

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 9.8 SLC34A2 SLC34A1 SLC20A2 PHEX KL ENPP1
2 extracellular region GO:0005576 9.76 SFRP4 PTH MEPE KL FGF7 FGF23
3 apical plasma membrane GO:0016324 9.56 SLC34A3 SLC34A2 SLC34A1 KL
4 vesicle GO:0031982 9.54 SLC34A3 SLC34A2 SLC34A1
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 30)
# Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.83 SLC34A2 SLC34A1 MEPE FGF23 DMP1
2 positive regulation of protein kinase B signaling GO:0051897 9.82 KL FGF7 FGF23
3 skeletal system development GO:0001501 9.8 PTH PHEX MEPE
4 sodium ion transport GO:0006814 9.8 SLC34A3 SLC34A2 SLC34A1 SLC20A2
5 sodium ion transmembrane transport GO:0035725 9.75 SLC34A3 SLC34A2 SLC20A2
6 fibroblast growth factor receptor signaling pathway GO:0008543 9.71 KL GALNT3 FGF7 FGF23
7 positive regulation of bone mineralization GO:0030501 9.65 PTH KL
8 regulation of bone mineralization GO:0030500 9.65 FGF23 ENPP1 CYP27B1
9 response to cadmium ion GO:0046686 9.64 SLC34A1 PTH
10 calcium ion homeostasis GO:0055074 9.63 KL CYP27B1
11 response to vitamin D GO:0033280 9.63 PTH PHEX CYP27B1
12 response to lead ion GO:0010288 9.62 SLC34A1 PTH
13 phosphate-containing compound metabolic process GO:0006796 9.62 FGF23 ENPP1
14 biomineral tissue development GO:0031214 9.62 PHEX MEPE ENPP1 DMP1
15 phosphate ion transmembrane transport GO:0035435 9.61 SLC34A1 SLC20A2
16 vitamin D metabolic process GO:0042359 9.61 FGF23 CYP27B1
17 response to magnesium ion GO:0032026 9.6 SLC34A1 FGF23
18 response to growth hormone GO:0060416 9.59 SLC34A1 PHEX
19 cellular response to vitamin D GO:0071305 9.58 PHEX FGF23
20 response to parathyroid hormone GO:0071107 9.57 SLC34A1 PTH
21 positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway GO:0090080 9.56 KL FGF23
22 phosphate ion transport GO:0006817 9.56 SLC34A3 SLC34A2 SLC34A1 SLC20A2
23 bone mineralization GO:0030282 9.55 PHEX CYP27B1
24 vitamin D catabolic process GO:0042369 9.54 FGF23 CYP27B1
25 cellular response to parathyroid hormone stimulus GO:0071374 9.54 SLC34A1 PHEX FGF23
26 response to sodium phosphate GO:1904383 9.52 PHEX FGF23
27 positive regulation of vitamin D 24-hydroxylase activity GO:0010980 9.51 FGF23 CYP27B1
28 sodium-dependent phosphate transport GO:0044341 9.33 SLC34A3 SLC34A2 SLC34A1
29 phosphate ion homeostasis GO:0055062 9.26 SLC34A1 SFRP4 PTH FGF23
30 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 9.56 SLC34A3 SLC34A2 SLC34A1 SLC20A2
2 fibroblast growth factor receptor binding GO:0005104 9.33 KL FGF7 FGF23
3 sodium:phosphate symporter activity GO:0005436 9.26 SLC34A3 SLC34A2 SLC34A1 SLC20A2
4 sodium-dependent phosphate transmembrane transporter activity GO:0015321 8.8 SLC34A3 SLC34A2 SLC34A1
Sources

Sources for Hypophosphatemic Rickets with Hypercalciuria, Hereditary

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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
45 MESH via Orphanet
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 TGDB
71 Tocris
72 UMLS
73 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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