MCID: DMN034
MIFTS: 12

Dominant Hypophosphatemia with Nephrolithiasis or Osteoporosis

Categories: Nephrological diseases, Bone diseases, Fetal 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 59

Characteristics:

Orphanet epidemiological data:

59
dominant hypophosphatemia with nephrolithiasis or osteoporosis
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

Classifications:



External Ids:

Orphanet 59 ORPHA244305

Summaries for Dominant Hypophosphatemia with Nephrolithiasis or Osteoporosis

MalaCards based summary : Dominant Hypophosphatemia with Nephrolithiasis or Osteoporosis is related to nephrolithiasis and osteoporosis. An important gene associated with Dominant Hypophosphatemia with Nephrolithiasis or Osteoporosis is SLC9A3R1 (SLC9A3 Regulator 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 nephrolithiasis 9.2 SLC34A1 SLC9A3R1
2 osteoporosis 9.0 SLC34A1 SLC9A3R1

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:

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Bone

Publications for Dominant Hypophosphatemia with Nephrolithiasis or Osteoporosis

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 SLC34A1 SLC9A3R1

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 SLC34A1 SLC9A3R1
2 apical plasma membrane GO:0016324 9.26 SLC34A1 SLC9A3R1
3 membrane raft GO:0045121 9.16 SLC34A1 SLC9A3R1
4 vesicle GO:0031982 8.96 SLC34A1 SLC9A3R1
5 brush border membrane GO:0031526 8.62 SLC34A1 SLC9A3R1

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 SLC34A1 SLC9A3R1

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

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

Sources for Dominant Hypophosphatemia with Nephrolithiasis or Osteoporosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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