MCID: DMN034
MIFTS: 13

Dominant Hypophosphatemia with Nephrolithiasis or Osteoporosis

Categories: Bone diseases, Fetal diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Dominant Hypophosphatemia with Nephrolithiasis or Osteoporosis

MalaCards integrated aliases for Dominant Hypophosphatemia with Nephrolithiasis or Osteoporosis:

Name: Dominant Hypophosphatemia with Nephrolithiasis or Osteoporosis 58

Characteristics:

Orphanet epidemiological data:

58
dominant hypophosphatemia with nephrolithiasis or osteoporosis
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

Classifications:

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


External Ids:

Orphanet 58 ORPHA244305

Summaries for Dominant Hypophosphatemia with Nephrolithiasis or Osteoporosis

MalaCards based summary : Dominant Hypophosphatemia with Nephrolithiasis or Osteoporosis is related to hypophosphatemia and osteoporosis. An important gene associated with Dominant Hypophosphatemia with Nephrolithiasis or 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.

Related Diseases for Dominant Hypophosphatemia with Nephrolithiasis or Osteoporosis

Diseases related to Dominant Hypophosphatemia with Nephrolithiasis or Osteoporosis via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hypophosphatemia 9.5 SLC9A3R1 SLC34A1
2 osteoporosis 9.4 SLC9A3R1 SLC34A1
3 nephrolithiasis, calcium oxalate 9.2 SLC9A3R1 SLC34A1

Symptoms & Phenotypes for Dominant Hypophosphatemia with Nephrolithiasis or Osteoporosis

Drugs & Therapeutics for Dominant Hypophosphatemia with Nephrolithiasis or Osteoporosis

Search Clinical Trials , NIH Clinical Center for Dominant Hypophosphatemia with Nephrolithiasis or Osteoporosis

Genetic Tests for Dominant Hypophosphatemia with Nephrolithiasis or Osteoporosis

Anatomical Context for Dominant Hypophosphatemia with Nephrolithiasis or Osteoporosis

MalaCards organs/tissues related to Dominant Hypophosphatemia with Nephrolithiasis or Osteoporosis:

40
Bone

Publications for Dominant Hypophosphatemia with Nephrolithiasis or Osteoporosis

Articles related to Dominant Hypophosphatemia with Nephrolithiasis or Osteoporosis:

# Title Authors PMID Year
1
NHERF1 mutations and responsiveness of renal parathyroid hormone. 6
18784102 2008
2
Nephrolithiasis and osteoporosis associated with hypophosphatemia caused by mutations in the type 2a sodium-phosphate cotransporter. 6
12324554 2002

Variations for Dominant Hypophosphatemia with Nephrolithiasis or Osteoporosis

Expression for Dominant Hypophosphatemia with Nephrolithiasis or Osteoporosis

Search GEO for disease gene expression data for Dominant Hypophosphatemia with Nephrolithiasis or Osteoporosis.

Pathways for Dominant Hypophosphatemia with Nephrolithiasis or Osteoporosis

Pathways related to Dominant Hypophosphatemia with Nephrolithiasis or Osteoporosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.65 SLC9A3R1 SLC34A1

GO Terms for Dominant Hypophosphatemia with Nephrolithiasis or Osteoporosis

Cellular components related to Dominant Hypophosphatemia with Nephrolithiasis or Osteoporosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 perinuclear region of cytoplasm GO:0048471 9.32 SLC9A3R1 SLC34A1
2 apical plasma membrane GO:0016324 9.26 SLC9A3R1 SLC34A1
3 membrane raft GO:0045121 9.16 SLC9A3R1 SLC34A1
4 vesicle GO:0031982 8.96 SLC9A3R1 SLC34A1
5 brush border membrane GO:0031526 8.62 SLC9A3R1 SLC34A1

Biological processes related to Dominant Hypophosphatemia with Nephrolithiasis or 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 Dominant Hypophosphatemia with Nephrolithiasis or Osteoporosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein-containing complex binding GO:0044877 8.96 SLC9A3R1 SLC34A1
2 PDZ domain binding GO:0030165 8.62 SLC9A3R1 SLC34A1

Sources for Dominant Hypophosphatemia with Nephrolithiasis or Osteoporosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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