Hypophosphatemic Rickets with Hypercalciuria, Hereditary disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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
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Aliases & Classifications for Hypophosphatemic Rickets with Hypercalciuria, Hereditary

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

Endocrine, nutritional and metabolic diseases

Metabolic disorders

Disorders of mineral metabolism

Disorders of phosphorus metabolism and phosphatases

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

MedGen ⁴¹ C0342645 C1853271

UMLS ⁷¹ C1853271

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Summaries for Hypophosphatemic Rickets with Hypercalciuria, Hereditary

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 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 Parathyroid hormone synthesis, secretion and action and Mineral absorption. The drugs Antibodies, Monoclonal and Immunologic Factors have been mentioned in the context of this disorder. Affiliated tissues include bone, kidney 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 : 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

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

(show top 50) (show all 64)

#	Related Disease	Score	Top Affiliating Genes
1	hereditary hypophosphatemic rickets	30.8	SLC34A3 SLC34A1
2	bone disease	30.3	SLC34A3 PTH PHEX FGF23
3	secondary hyperparathyroidism	30.3	PTH PHEX FGF23
4	hyperparathyroidism	30.1	PTH PHEX FGF23
5	hypophosphatemic rickets, x-linked recessive	29.1	SLC34A3 SLC34A1 PHEX FGF23 ENPP1 DMP1
6	nephrocalcinosis	28.9	SLC34A3 SLC34A1 PTH PHEX FGF23 EMP1
7	nephrolithiasis, calcium oxalate	28.9	SLC34A3 SLC34A1 PTH PHEX FGF23 EMP1
8	fanconi syndrome	28.7	SLC34A3 SLC34A1 PTH PHEX FGF23 EMP1
9	rickets	28.6	SLC34A3 SLC34A1 PTH PHEX FGF23 ENPP1
10	hypophosphatemia	28.4	SLC34A3 SLC34A1 PTH PHEX FGF23 ENPP1
11	osteomalacia	28.1	SLC34A3 SLC34A1 PTH PHEX FGF23 ENPP1
12	hypophosphatemic rickets, autosomal dominant	27.4	SLC34A3 PTH PHEX GALNT3 FGF23 ENPP1
13	hypophosphatemic rickets, x-linked dominant	27.0	SLC34A3 SLC34A1 PTH PHEX GALNT3 FGF23
14	familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis	11.5
15	hypercalciuria, absorptive, 2	10.6
16	autosomal recessive disease	10.3
17	opsismodysplasia	10.3	PHEX FGF23
18	dent disease 1	10.3
19	raine syndrome	10.2	FGF23 DMP1
20	renal glucosuria	10.2
21	primary hyperparathyroidism	10.2
22	renal tubular acidosis	10.2
23	aminoaciduria	10.2
24	dwarfism	10.2
25	tracheal calcification	10.1	PTH FGF23
26	medullary sponge kidney	10.1
27	idiopathic hypercalciuria	10.1
28	osteitis fibrosa	10.1	PTH FGF23
29	calciphylaxis	10.1	PTH FGF23
30	bone benign neoplasm	10.1	PTH FGF23
31	osteoblastoma	10.1	SLC34A3 FGF23 DMP1
32	impaired renal function disease	10.1	PTH FGF23
33	hyperlipoproteinemia, type v	10.0	SLC34A2 FGF23
34	ossifying fibroma	10.0	PTH FGF23
35	pseudohypoparathyroidism, type ib	10.0	SLC34A3 PTH
36	gorham's disease	10.0	PTH GALNT3
37	testicular microlithiasis	10.0	SLC34A2 GALNT3
38	parathyroid gland disease	9.9	PTH PHEX FGF23
39	renal osteodystrophy	9.9	PTH FGF23
40	familial tumoral calcinosis	9.9	PHEX GALNT3 FGF23
41	basal ganglia disease	9.9	SLC20A2 PTH
42	hypervitaminosis d	9.8	PTH GALNT3 FGF23
43	pyle disease	9.8	PTH GALNT3 FGF23
44	bone remodeling disease	9.7	SLC34A3 PTH PHEX FGF23
45	oncogenic osteomalacia	9.7	PTH PHEX FGF23 DMP1
46	osteoporosis	9.7	SLC34A1 PTH FGF23 DMP1
47	conjunctival deposit	9.7	GALNT3 FGF23 EMP1
48	hypocalcemia, autosomal dominant 1	9.7	PTH FGF23
49	angioid streaks	9.7	GALNT3 ENPP1
50	hypophosphatasia	9.5	PTH PHEX ENPP1

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

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Symptoms & Phenotypes for Hypophosphatemic Rickets with Hypercalciuria, Hereditary

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	muscle weakness ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001324
6	short stature ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0004322
7	bone pain ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002653
8	frontal bossing ³¹			HP:0002007
9	failure to thrive ³¹			HP:0001508
10	muscular hypotonia ³¹			HP:0001252
11	renal tubular dysfunction ³¹			HP:0000124
12	generalized hypotonia ³¹			HP:0001290
13	growth delay ³¹			HP:0001510
14	recurrent fractures ³¹			HP:0002757
15	flat occiput ³¹			HP:0005469
16	difficulty walking ³¹			HP:0002355
17	femoral bowing ³¹			HP:0002980
18	elevated alkaline phosphatase ³¹			HP:0003155
19	tibial bowing ³¹			HP:0002982
20	bowing of the legs ³¹			HP:0002979
21	widely patent fontanelles and sutures ³¹			HP:0004492
22	difficulty standing ³¹			HP:0003698
23	hypophosphatemic rickets ³¹			HP:0004912
24	delayed epiphyseal ossification ³¹			HP:0002663
25	thin bony cortex ³¹			HP:0002753
26	fibular bowing ³¹			HP:0010502
27	renal phosphate wasting ³¹			HP:0000117
28	sparse bone trabeculae ³¹			HP:0002752
29	bulging epiphyses ³¹			HP:0003013
30	enlargement of the wrists ³¹			HP:0003020
31	metaphyseal irregularity ³¹			HP:0003025
32	enlargement of the ankles ³¹			HP:0003029
33	increased serum 1,25-dihydroxyvitamin d3 ³¹			HP:0003152
34	deformed rib cage ³¹			HP:0000886
35	enlargement of the costochondral junction ³¹			HP:0000920
36	calcium nephrolithiasis ³¹			HP:0004724
37	abnormality of abdomen morphology ³¹			HP:0001438
38	bulging of the costochondral junction ³¹			HP:0000893

Symptoms via clinical synopsis from OMIM:

⁵⁶

Head And Neck Head:
frontal bossing

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

Growth Other:
failure to thrive
growth retardation
poor growth

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:

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

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Drugs & Therapeutics for Hypophosphatemic Rickets with Hypercalciuria, Hereditary

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	Antibodies, Monoclonal		Phase 4
2	Immunologic Factors		Phase 4
3	Antibodies		Phase 4
4	Immunoglobulins		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	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

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

⁴⁰

Bone, Kidney, Cortex

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Publications for Hypophosphatemic Rickets with Hypercalciuria, Hereditary

Articles related to Hypophosphatemic Rickets with Hypercalciuria, Hereditary:

(show top 50) (show all 54)

#	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 ⁵⁶ ⁶	Bergwitz C...Juppner H	16358214	2006
2	Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3. ⁶¹ ⁵⁶ ⁶	Lorenz-Depiereux B...Strom TM	16358215	2006
3	Hereditary hypophosphatemic rickets with hypercalciuria. ⁵⁶ ⁶	Tieder M...Liberman UA	2983203	1985
4	Intronic deletions in the SLC34A3 gene cause hereditary hypophosphatemic rickets with hypercalciuria. ⁶¹ ⁶	Ichikawa S...Econs MJ	16849419	2006
5	Hereditary hypophosphatemic rickets with hypercalciuria is not caused by mutations in the Na/Pi cotransporter NPT2 gene. ⁶¹ ⁵⁶	Jones A...Tenenhouse H	11181798	2001
6	Targeted inactivation of Npt2 in mice leads to severe renal phosphate wasting, hypercalciuria, and skeletal abnormalities. ⁶¹ ⁵⁶	Beck L...Tenenhouse HS	9560283	1998
7	A new kindred with hereditary hypophosphatemic rickets with hypercalciuria: implications for correct diagnosis and treatment. ⁶¹ ⁵⁶	Tieder M...Liberman UA	1436310	1992
8	"Idiopathic" hypercalciuria and hereditary hypophosphatemic rickets. Two phenotypical expressions of a common genetic defect. ⁶¹ ⁵⁶	Tieder M...Cohen N	3796683	1987
9	Hypercalciuric hypophosphatemic rickets, mineral balance, bone histomorphometry, and therapeutic implications of hypercalciuria. ⁵⁶	Chen C...Anast C	2787497	1989
10	Autosomal dominant hypophosphataemia with elevated serum 1,25 dihydroxyvitamin D and hypercalciuria. ⁵⁶	Proesmans WC...Bouillon R	3153320	1987
11	[Familial form of idiopathic hypercalciuria with nanism, bone and renal involvement in children]. ⁵⁶	Tieder M...Stark H	521301	1979
12	Influence of phosphate depletion on the biosynthesis and circulating level of 1alpha,25-dihydroxyvitamin D. ⁵⁶	Haussler M...Pitt M	899927	1977
13	Evaluating pathogenicity of SLC34A3-Ser192Leu, a frequent European missense variant in disorders of renal phosphate wasting. ⁶¹	Schonauer R...Halbritter J	30798342	2019
14	Phosphate matters when investigating hypercalcemia: a mutation in SLC34A3 causing HHRH ⁶¹	Tang AR...Kline GA	31352694	2019
15	Revision shoulder arthroplasty for failed humeral head resurfacing hemiarthroplasty. ⁶¹	Thangarajah T...Lambert S	31447943	2019
16	Analysis of opossum kidney NaPi-IIc sodium-dependent phosphate transporter to understand Pi handling in human kidney. ⁶¹	Fujii T...Miyamoto KI	30317447	2019
17	Hereditary hypophosphatemic rickets with hypercalciuria: pathophysiology, clinical presentation, diagnosis and therapy. ⁶¹	Bergwitz C...Miyamoto KI	30109410	2019
18	SLC34A3 Intronic Deletion in an Iranian Kindred with Hereditary Hypophosphatemic Rickets with Hypercalciuria ⁶¹	Hasani-Ranjbar S...Yarjoo B	29809158	2018
19	Late-onset hereditary hypophosphatemic rickets with hypercalciuria (HHRH) due to mutation of SLC34A3/NPT2c. ⁶¹	Dhir G...Levine MA	27939817	2017
20	Hypophosphatemic rickets: lessons from disrupted FGF23 control of phosphorus homeostasis. ⁶¹	Goldsweig BK...Carpenter TO	25620749	2015
21	[Genetic approach to nephrolithiasis]. ⁶¹	Marangella M...Vitale C	26479054	2015
22	Relationship between sodium-dependent phosphate transporter (NaPi-IIc) function and cellular vacuole formation in opossum kidney cells. ⁶¹	Shiozaki Y...Miyamoto K	26399350	2015
23	Mutations in SLC34A3/NPT2c are associated with kidney stones and nephrocalcinosis. ⁶¹	Dasgupta D...Bergwitz C	24700880	2014
24	Renal-specific and inducible depletion of NaPi-IIc/Slc34a3, the cotransporter mutated in HHRH, does not affect phosphate or calcium homeostasis in mice. ⁶¹	Myakala K...Hernando N	24553430	2014
25	Intronic deletions in the SLC34A3 gene: a cautionary tale for mutation analysis of hereditary hypophosphatemic rickets with hypercalciuria. ⁶¹	Ichikawa S...Econs MJ	24176905	2014
26	A compound heterozygous mutation in SLC34A3 causes hereditary hypophosphatemic rickets with hypercalciuria in a Chinese patient. ⁶¹	Chi Y...Xia W	24246249	2014
27	Association between compound heterozygous mutations of SLC34A3 and hypercalciuria. ⁶¹	Abe Y...Fukami M	24924704	2014
28	[Updates on rickets and osteomalacia: the role of NaPi-2c/SLC34A3 and hypophosphataemic rickets]. ⁶¹	Segawa H...Miyamoto K	24076642	2013
29	Novel SLC34A3 mutation causing hereditary hypophosphataemic rickets with hypercalciuria in a Gambian family. ⁶¹	Braithwaite V...Prentice A	23246670	2013
30	Hereditary hypophosphatemic rickets with hypercalciuria: case report. ⁶¹	Areses-Trapote R...Saez-Villaverde R	22806288	2012
31	SLC34A3 intronic deletion in a new kindred with hereditary hypophosphatemic rickets with hypercalciuria. ⁶¹	Hasani-Ranjbar S...Larijani B	22672866	2012
32	Processing and stability of type IIc sodium-dependent phosphate cotransporter mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria. ⁶¹	Haito-Sugino S...Miyamoto K	22159077	2012
33	Novel NaPi-IIc mutations causing HHRH and idiopathic hypercalciuria in several unrelated families: long-term follow-up in one kindred. ⁶¹	Yu Y...Bergwitz C	22387237	2012
34	Identification and functional analysis of a splice variant of mouse sodium-dependent phosphate transporter Npt2c. ⁶¹	Kuwahara S...Miyamoto K	22450000	2012
35	Hereditary hypophosphatemic rickets with hypercalciuria and nephrolithiasis-identification of a novel SLC34A3/NaPi-IIc mutation. ⁶¹	Phulwani P...Estrada E	21344632	2011
36	Genetic and clinical peculiarities in a new family with hereditary hypophosphatemic rickets with hypercalciuria: a case report. ⁶¹	Mejia-Gaviria N...Santos F	20074341	2010
37	Hypophosphatemic rickets with hypercalciuria due to mutation in SLC34A3/type IIc sodium-phosphate cotransporter: presentation as hypercalciuria and nephrolithiasis. ⁶¹	Tencza AL...Levine MA	19820004	2009
38	Npt2a and Npt2c in mice play distinct and synergistic roles in inorganic phosphate metabolism and skeletal development. ⁶¹	Segawa H...Miyamoto K	19570882	2009
39	The roles of Na/Pi-II transporters in phosphate metabolism. ⁶¹	Segawa H...Miyamoto K	19232403	2009
40	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	Kremke B...Hiort O	18523928	2009
41	Novel NaPi-2c mutations that cause mistargeting of NaPi-2c protein and uncoupling of Na-Pi cotransport cause HHRH. ⁶¹	Levi M	18524854	2008
42	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	Jaureguiberry G...Bergwitz C	18480181	2008
43	Inherited hypophosphatemic disorders in children and the evolving mechanisms of phosphate regulation. ⁶¹	Bastepe M...Juppner H	18365315	2008
44	Report of a family with two different hereditary diseases leading to early nephrocalcinosis. ⁶¹	Vargas-Poussou R...Jeunemaitre X	17899212	2008
45	Hereditary hypophosphatemic rickets with hypercalciuria: a study for the phosphate transporter gene type IIc and osteoblastic function. ⁶¹	Yamamoto T...Ozono K	17968493	2007
46	[Hereditary hypophosphatemia in adults]. ⁶¹	Velayoudom-Cephise FL...Wemeau JL	16374396	2005
47	The role of fibroblast growth factor 23 for hypophosphatemia and abnormal regulation of vitamin D metabolism in patients with McCune-Albright syndrome. ⁶¹	Yamamoto T...Ozono K	15838626	2005
48	Cooperation of the V1/V2 and V3 domains of human immunodeficiency virus type 1 gp120 for interaction with the CXCR4 receptor. ⁶¹	Labrosse B...Alizon M	11356952	2001
49	Autosomal recessive hypophosphataemic rickets with hypercalciuria is not caused by mutations in the type II renal sodium/phosphate cotransporter gene. ⁶¹	van den Heuvel L...Monnens L	11208993	2001
50	Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23. ⁶¹	ADHR Consortium	11062477	2000

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Genes for Hypophosphatemic Rickets with Hypercalciuria, Hereditary

Genes related to Hypophosphatemic Rickets with Hypercalciuria, Hereditary (1 elite genes):

(show all 11)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	SLC34A3	Solute Carrier Family 34 Member 3	Protein Coding	1567.66	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁸ Causative variation ⁷³ DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)	16358214 16358215 2983203 (more) 16849419
2	FGF23	Fibroblast Growth Factor 23	Protein Coding	7.91	DISEASES inferred ¹⁵
3	PHEX	Phosphate Regulating Endopeptidase Homolog X-Linked	Protein Coding	7.84	DISEASES inferred ¹⁵
4	DMP1	Dentin Matrix Acidic Phosphoprotein 1	Protein Coding	7.69	DISEASES inferred ¹⁵
5	SLC34A1	Solute Carrier Family 34 Member 1	Protein Coding	7.21	DISEASES inferred ¹⁵
6	SLC20A2	Solute Carrier Family 20 Member 2	Protein Coding	7.16	DISEASES inferred ¹⁵
7	PTH	Parathyroid Hormone	Protein Coding	6.91	DISEASES inferred ¹⁵
8	GALNT3	Polypeptide N-Acetylgalactosaminyltransferase 3	Protein Coding	6.7	DISEASES inferred ¹⁵
9	EMP1	Epithelial Membrane Protein 1	Protein Coding	6.67	DISEASES inferred ¹⁵
10	ENPP1	Ectonucleotide Pyrophosphatase/Phosphodiesterase 1	Protein Coding	6.54	DISEASES inferred ¹⁵
11	SLC34A2	Solute Carrier Family 34 Member 2	Protein Coding	6.5	DISEASES inferred ¹⁵

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Variations for Hypophosphatemic Rickets with Hypercalciuria, Hereditary

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

⁶ (show all 26) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	SLC34A3	NM_080877.2(SLC34A3):c.575C>T (p.Ser192Leu)	SNV	Pathogenic	198610	rs199690076	9:140127675-140127675	9:137233223-137233223
2	SLC34A3	NM_080877.2(SLC34A3):c.908del (p.Pro303fs)	deletion	Pathogenic	1426	rs794729658	9:140128373-140128373	9:137233921-137233921
3	SLC34A3	NM_080877.2(SLC34A3):c.1058G>T (p.Arg353Leu)	SNV	Pathogenic	1427	rs121918234	9:140128693-140128693	9:137234241-137234241
4	SLC34A3	NM_080877.2(SLC34A3):c.1238C>A (p.Ala413Glu)	SNV	Pathogenic	1428	rs121918235	9:140129086-140129086	9:137234634-137234634
5	SLC34A3	NM_080877.2(SLC34A3):c.846G>A (p.Pro282=)	SNV	Pathogenic	1429	rs121918236	9:140128174-140128174	9:137233722-137233722
6	SLC34A3	NM_080877.2(SLC34A3):c.228del (p.Cys77fs)	deletion	Pathogenic	1430	rs794729659	9:140127078-140127078	9:137232626-137232626
7	SLC34A3	NM_080877.2(SLC34A3):c.586G>A (p.Gly196Arg)	SNV	Pathogenic	1431	rs121918237	9:140127686-140127686	9:137233234-137233234
8	SLC34A3	NM_080877.2(SLC34A3):c.1402C>T (p.Arg468Trp)	SNV	Pathogenic	1432	rs121918238	9:140130470-140130470	9:137236018-137236018
9	SLC34A3	NM_080877.2(SLC34A3):c.925+20_926-48del	deletion	Pathogenic	1433	rs1554784044	9:140128413-140128513	9:137233910-137234010
10	SLC34A3	NM_080877.2(SLC34A3):c.1093+41_1094-15del	deletion	Pathogenic	1435	rs1554784508	9:140128753-140128837	9:137234301-137234385
11	SLC34A3	NM_080877.2(SLC34A3):c.1556dup (p.Pro520fs)	duplication	Pathogenic	438692	rs1554785333	9:140130619-140130620	9:137236167-137236168
12	SLC34A3	NM_080877.2(SLC34A3):c.304+2T>C	SNV	Pathogenic	444092	rs201293634	9:140127157-140127157	9:137232705-137232705
13	SLC34A3	NM_080877.2(SLC34A3):c.1639_1652del (p.Arg547fs)	deletion	Pathogenic	444096	rs1554785389	9:140130702-140130715	9:137236250-137236263
14	SLC34A3	NM_080877.2(SLC34A3):c.575C>G (p.Ser192Trp)	SNV	Pathogenic	444094	rs199690076	9:140127675-140127675	9:137233223-137233223
15	SLC34A3	NM_080877.2(SLC34A3):c.1561dup (p.Leu521fs)	duplication	Pathogenic/Likely pathogenic	444095	rs765816079	9:140130625-140130626	9:137236173-137236174
16	SLC34A3	NM_080877.2(SLC34A3):c.448+1G>A	SNV	Pathogenic/Likely pathogenic	445687	rs150841256	9:140127380-140127380	9:137232928-137232928
17	SLC34A3	NM_080877.2(SLC34A3):c.448+5G>A	SNV	Likely pathogenic	444093	rs768893184	9:140127384-140127384	9:137232932-137232932
18	SLC34A3	NM_080877.2(SLC34A3):c.1274C>T (p.Thr425Ile)	SNV	Likely pathogenic	397583	rs1060499697	9:140129122-140129122	9:137234670-137234670
19	SLC34A3	NM_080877.2(SLC34A3):c.756G>A (p.Gln252=)	SNV	Conflicting interpretations of pathogenicity	1434	rs121918239	9:140127856-140127856	9:137233404-137233404
20	SLC34A3	NM_080877.2(SLC34A3):c.1210G>A (p.Gly404Arg)	SNV	Uncertain significance	522468	rs759768852	9:140128984-140128984	9:137234532-137234532
21	SLC34A3	NM_080877.2(SLC34A3):c.1211-36G>A	SNV	Uncertain significance	522469	rs748121039	9:140129023-140129023	9:137234571-137234571
22	SLC34A3	NM_001177316.2(SLC34A3):c.940G>A (p.Ala314Thr)	SNV	Uncertain significance	802548		9:140128575-140128575	9:137234123-137234123
23	SLC34A3	NM_080877.2(SLC34A3):c.790G>A (p.Gly264Ser)	SNV	Likely benign	284859	rs148072630	9:140128118-140128118	9:137233666-137233666
24	SLC34A3	NM_080877.2(SLC34A3):c.1585A>T (p.Ile529Phe)	SNV	Benign/Likely benign	194278	rs140639805	9:140130653-140130653	9:137236201-137236201
25	SLC34A3	NM_080877.2(SLC34A3):c.1454G>A (p.Arg485His)	SNV	Benign	194279	rs138872455	9:140130522-140130522	9:137236070-137236070
26	SLC34A3	NM_080877.2(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

Sources

Expression for Hypophosphatemic Rickets with Hypercalciuria, Hereditary

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

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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	Parathyroid hormone synthesis, secretion and action ³⁶	11.05	SLC34A3 SLC34A2 SLC34A1 PTH FGF23
2	Mineral absorption ³⁶	10.9	SLC34A3 SLC34A2 SLC34A1
3	Surfactant metabolism ⁶⁵ Show member pathways Defective pro-SFTPB causes pulmonary surfactant metabolism dysfunction 1 (SMDP1) and respiratory distress syndrome (RDS) ⁶⁵ Diseases associated with surfactant metabolism ⁶⁵	10.89	SLC34A2 SLC34A1
4	Osteoblast Signaling ¹	10.3	PTH FGF23

Sources

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	9.72	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	negative regulation of bone mineralization	GO:0030502	9.56	FGF23 ENPP1
12	response to growth hormone	GO:0060416	9.55	SLC34A1 PHEX
13	cellular response to vitamin D	GO:0071305	9.54	PHEX FGF23
14	phosphate ion transmembrane transport	GO:0035435	9.52	SLC34A1 SLC20A2
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

Sources

Sources for Hypophosphatemic Rickets with Hypercalciuria, Hereditary

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⁷¹ UMLS

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⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Hypophosphatemic Rickets with Hypercalciuria, Hereditary (HHRH)

Aliases & Classifications for Hypophosphatemic Rickets with Hypercalciuria, Hereditary

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Related Diseases for Hypophosphatemic Rickets with Hypercalciuria, Hereditary

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Symptoms & Phenotypes for Hypophosphatemic Rickets with Hypercalciuria, Hereditary

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

Expression 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:

GO Terms for Hypophosphatemic Rickets with Hypercalciuria, Hereditary

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

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

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

Sources for Hypophosphatemic Rickets with Hypercalciuria, Hereditary