MCID: HYP868
MIFTS: 21

Hypophosphatemic Nephrolithiasis/osteoporosis

Categories: Bone diseases, Genetic diseases, Nephrological diseases

Aliases & Classifications for Hypophosphatemic Nephrolithiasis/osteoporosis

MalaCards integrated aliases for Hypophosphatemic Nephrolithiasis/osteoporosis:

Name: Hypophosphatemic Nephrolithiasis/osteoporosis 12 15
Nephrolithiasis/osteoporosis, Hypophosphatemic 36 6

Classifications:



External Ids:

Disease Ontology 12 DOID:0080655
KEGG 36 H00888

Summaries for Hypophosphatemic Nephrolithiasis/osteoporosis

KEGG : 36 Nephrolithiasis/osteoporosis, hypophosphatemic is a genetically heterologous group of disorders characterized by the formation of renal calcium stones or bone demineralization due to impaired renal phosphate reabsorption. It is caused by either mutations in NPT2A, a sodium-phosphate cotransporter expressed in kidney and polarized osteoclasts, or in sodium-hydrogen exchanger regulatory factor (NHERF)1, that controls renal phosphate transport by trafficking NPT2A.

MalaCards based summary : Hypophosphatemic Nephrolithiasis/osteoporosis, also known as nephrolithiasis/osteoporosis, hypophosphatemic, is related to nephrolithiasis/osteoporosis, hypophosphatemic, 1 and nephrolithiasis/osteoporosis, hypophosphatemic, 2. An important gene associated with Hypophosphatemic Nephrolithiasis/osteoporosis is SLC34A1 (Solute Carrier Family 34 Member 1), and among its related pathways/superpathways is Parathyroid hormone synthesis, secretion and action. Affiliated tissues include bone and kidney, and related phenotype is behavior/neurological.

Disease Ontology : 12 A kidney disease that is characterized by formation of renal calcium\nstones or bone demineralization.

Related Diseases for Hypophosphatemic Nephrolithiasis/osteoporosis

Graphical network of the top 20 diseases related to Hypophosphatemic Nephrolithiasis/osteoporosis:



Diseases related to Hypophosphatemic Nephrolithiasis/osteoporosis

Symptoms & Phenotypes for Hypophosphatemic Nephrolithiasis/osteoporosis

MGI Mouse Phenotypes related to Hypophosphatemic Nephrolithiasis/osteoporosis:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.1 MINDY4 SLC34A1 SLC9A3R1 SYPL2 TMEM60 WDR37

Drugs & Therapeutics for Hypophosphatemic Nephrolithiasis/osteoporosis

Search Clinical Trials , NIH Clinical Center for Hypophosphatemic Nephrolithiasis/osteoporosis

Genetic Tests for Hypophosphatemic Nephrolithiasis/osteoporosis

Anatomical Context for Hypophosphatemic Nephrolithiasis/osteoporosis

MalaCards organs/tissues related to Hypophosphatemic Nephrolithiasis/osteoporosis:

40
Bone, Kidney

Publications for Hypophosphatemic Nephrolithiasis/osteoporosis

Articles related to Hypophosphatemic Nephrolithiasis/osteoporosis:

# Title Authors PMID Year
1
Digenic Heterozygous Mutations in SLC34A3 and SLC34A1 Cause Dominant Hypophosphatemic Rickets with Hypercalciuria. 61
32311027 2020

Variations for Hypophosphatemic Nephrolithiasis/osteoporosis

ClinVar genetic disease variations for Hypophosphatemic Nephrolithiasis/osteoporosis:

6 (show all 15) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 F12 , SLC34A1 NM_000505.3(F12):c.1681-1G>ASNV Conflicting interpretations of pathogenicity 1166 rs199988476 5:176829461-176829461 5:177402460-177402460
2 SLC34A1 NM_003052.5(SLC34A1):c.*239C>ASNV Uncertain significance 352981 rs768911630 5:176825526-176825526 5:177398525-177398525
3 F12 , SLC34A1 NM_000505.3(F12):c.1251-7C>TSNV Likely benign 352989 rs375340260 5:176830625-176830625 5:177403624-177403624
4 F12 , SLC34A1 NM_003052.5(SLC34A1):c.1702C>T (p.His568Tyr)SNV Benign/Likely benign 352975 rs34225933 5:176825069-176825069 5:177398068-177398068
5 F12 , SLC34A1 NM_003052.5(SLC34A1):c.*179G>ASNV Benign/Likely benign 352979 rs141664220 5:176825466-176825466 5:177398465-177398465
6 F12 , SLC34A1 NM_003052.5(SLC34A1):c.*485G>ASNV Benign/Likely benign 352985 rs143160780 5:176825772-176825772 5:177398771-177398771
7 F12 , SLC34A1 NM_000505.3(F12):c.1342C>T (p.Arg448Cys)SNV Benign/Likely benign 352986 rs115119084 5:176830527-176830527 5:177403526-177403526
8 F12 , SLC34A1 NM_000505.3(F12):c.1272G>C (p.Thr424=)SNV Benign/Likely benign 352988 rs61737766 5:176830597-176830597 5:177403596-177403596
9 F12 , SLC34A1 NM_003052.5(SLC34A1):c.1483C>T (p.Arg495Cys)SNV Benign/Likely benign 352973 rs199565633 5:176824850-176824850 5:177397849-177397849
10 F12 , SLC34A1 NM_003052.5(SLC34A1):c.1719A>G (p.Leu573=)SNV Benign/Likely benign 352976 rs148575220 5:176825086-176825086 5:177398085-177398085
11 F12 , SLC34A1 NM_003052.5(SLC34A1):c.*361T>CSNV Benign/Likely benign 352983 rs539754545 5:176825648-176825648 5:177398647-177398647
12 F12 , SLC34A1 NM_000505.3(F12):c.1299C>T (p.Asn433=)SNV Benign/Likely benign 352987 rs17876033 5:176830570-176830570 5:177403569-177403569
13 F12 , SLC34A1 NM_000505.4(F12):c.1251-9C>TSNV Benign 256309 rs17876032 5:176830627-176830627 5:177403626-177403626
14 F12 , SLC34A1 NM_003052.5(SLC34A1):c.1635C>T (p.Gly545=)SNV Benign 352974 rs7379524 5:176825002-176825002 5:177398001-177398001
15 F12 , SLC34A1 NM_003052.5(SLC34A1):c.*202A>CSNV Benign 352980 rs6556319 5:176825489-176825489 5:177398488-177398488

Expression for Hypophosphatemic Nephrolithiasis/osteoporosis

Search GEO for disease gene expression data for Hypophosphatemic Nephrolithiasis/osteoporosis.

Pathways for Hypophosphatemic Nephrolithiasis/osteoporosis

Pathways related to Hypophosphatemic Nephrolithiasis/osteoporosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.65 SLC9A3R1 SLC34A1

GO Terms for Hypophosphatemic Nephrolithiasis/osteoporosis

Cellular components related to Hypophosphatemic Nephrolithiasis/osteoporosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 brush border membrane GO:0031526 8.62 SLC9A3R1 SLC34A1

Biological processes related to Hypophosphatemic Nephrolithiasis/osteoporosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cellular phosphate ion homeostasis GO:0030643 8.62 SLC9A3R1 SLC34A1

Molecular functions related to Hypophosphatemic Nephrolithiasis/osteoporosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 PDZ domain binding GO:0030165 8.62 SLC9A3R1 SLC34A1

Sources for Hypophosphatemic Nephrolithiasis/osteoporosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
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19 FMA
28 GO
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30 HMDB
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57 OMIM via Orphanet
61 PubMed
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68 SNOMED-CT via HPO
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70 Tocris
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72 UMLS via Orphanet
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