MCID: DMN034
MIFTS: 18

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 nephrolithiasis. 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.

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 9.7 SLC9A3R1 SLC34A1
2 nephrolithiasis 9.7 SLC9A3R1 SLC34A1
3 osteoporosis 9.6 SLC9A3R1 SLC34A1
4 hypophosphatemic nephrolithiasis/osteoporosis 9.6 SLC9A3R1 SLC34A1
5 nephrolithiasis, calcium oxalate 9.5 SLC9A3R1 SLC34A1

Graphical network of the top 20 diseases related to Dominant Hypophosphatemia with Nephrolithiasis or Osteoporosis:



Diseases related to Dominant Hypophosphatemia with Nephrolithiasis or Osteoporosis

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

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

ClinVar genetic disease variations for Dominant Hypophosphatemia with Nephrolithiasis or Osteoporosis:

6 (show top 50) (show all 66)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLC34A1 NM_003052.5(SLC34A1):c.142_143delinsTT (p.Ala48Phe) Indel Pathogenic 12931 rs121918610 GRCh37: 5:176813020-176813021
GRCh38: 5:177386019-177386020
2 SLC34A1 NM_003052.5(SLC34A1):c.439G>A (p.Val147Met) SNV Pathogenic 12932 rs121918611 GRCh37: 5:176813474-176813474
GRCh38: 5:177386473-177386473
3 SLC34A1 NM_003052.5(SLC34A1):c.934C>T (p.Gln312Ter) SNV Pathogenic 433538 rs1554095568 GRCh37: 5:176815371-176815371
GRCh38: 5:177388370-177388370
4 SLC9A3R1 NM_004252.5(SLC9A3R1):c.673G>A (p.Glu225Lys) SNV Pathogenic 5272 rs119486097 GRCh37: 17:72759575-72759575
GRCh38: 17:74763436-74763436
5 SLC34A1 NM_003052.5(SLC34A1):c.*239C>A SNV Uncertain significance 352981 rs768911630 GRCh37: 5:176825526-176825526
GRCh38: 5:177398525-177398525
6 SLC34A1 NM_003052.5(SLC34A1):c.*241C>T SNV Uncertain significance 906754 GRCh37: 5:176825528-176825528
GRCh38: 5:177398527-177398527
7 SLC34A1 NM_003052.5(SLC34A1):c.*301T>C SNV Uncertain significance 906755 GRCh37: 5:176825588-176825588
GRCh38: 5:177398587-177398587
8 SLC34A1 NM_003052.5(SLC34A1):c.*331A>G SNV Uncertain significance 906757 GRCh37: 5:176825618-176825618
GRCh38: 5:177398617-177398617
9 SLC34A1 NM_003052.5(SLC34A1):c.*406C>T SNV Uncertain significance 907754 GRCh37: 5:176825693-176825693
GRCh38: 5:177398692-177398692
10 SLC34A1 NM_003052.5(SLC34A1):c.*505C>T SNV Uncertain significance 907756 GRCh37: 5:176825792-176825792
GRCh38: 5:177398791-177398791
11 SLC9A3R1 NM_004252.5(SLC9A3R1):c.458G>A (p.Arg153Gln) SNV Uncertain significance 5271 rs41282065 GRCh37: 17:72758167-72758167
GRCh38: 17:74762028-74762028
12 SLC34A1 NM_003052.5(SLC34A1):c.1006+1G>A SNV Uncertain significance 234928 rs200095793 GRCh37: 5:176820765-176820765
GRCh38: 5:177393764-177393764
13 SLC9A3R1 NM_004252.5(SLC9A3R1):c.657C>G (p.Ile219Met) SNV Uncertain significance 561111 rs147104235 GRCh37: 17:72759559-72759559
GRCh38: 17:74763420-74763420
14 SLC9A3R1 NM_004252.5(SLC9A3R1):c.328C>G (p.Leu110Val) SNV Uncertain significance 5270 rs35910969 GRCh37: 17:72745313-72745313
GRCh38: 17:74749174-74749174
15 SLC34A1 NM_003052.5(SLC34A1):c.*79G>C SNV Uncertain significance 352978 rs886060468 GRCh37: 5:176825366-176825366
GRCh38: 5:177398365-177398365
16 SLC34A1 NM_003052.5(SLC34A1):c.*392A>G SNV Uncertain significance 352984 rs886060470 GRCh37: 5:176825679-176825679
GRCh38: 5:177398678-177398678
17 SLC34A1 NM_003052.5(SLC34A1):c.-48G>C SNV Uncertain significance 352951 rs886060466 GRCh37: 5:176811488-176811488
GRCh38: 5:177384487-177384487
18 SLC34A1 NM_003052.5(SLC34A1):c.*323G>A SNV Uncertain significance 352982 rs886060469 GRCh37: 5:176825610-176825610
GRCh38: 5:177398609-177398609
19 SLC34A1 NM_003052.5(SLC34A1):c.110-6C>T SNV Uncertain significance 352954 rs773115741 GRCh37: 5:176812982-176812982
GRCh38: 5:177385981-177385981
20 SLC34A1 NM_003052.5(SLC34A1):c.*60G>A SNV Uncertain significance 352977 rs886060467 GRCh37: 5:176825347-176825347
GRCh38: 5:177398346-177398346
21 SLC34A1 NM_003052.5(SLC34A1):c.-68G>A SNV Uncertain significance 352950 rs774774202 GRCh37: 5:176811468-176811468
GRCh38: 5:177384467-177384467
22 SLC34A1 NM_003052.5(SLC34A1):c.94G>A (p.Val32Met) SNV Uncertain significance 904292 GRCh37: 5:176812836-176812836
GRCh38: 5:177385835-177385835
23 SLC34A1 NM_003052.5(SLC34A1):c.1466A>G (p.Tyr489Cys) SNV Uncertain significance 904365 GRCh37: 5:176824833-176824833
GRCh38: 5:177397832-177397832
24 SLC34A1 NM_003052.5(SLC34A1):c.*52C>T SNV Uncertain significance 904366 GRCh37: 5:176825339-176825339
GRCh38: 5:177398338-177398338
25 SLC34A1 NM_003052.5(SLC34A1):c.315A>C (p.Pro105=) SNV Uncertain significance 905095 GRCh37: 5:176813277-176813277
GRCh38: 5:177386276-177386276
26 SLC34A1 NM_003052.5(SLC34A1):c.*65G>A SNV Uncertain significance 905163 GRCh37: 5:176825352-176825352
GRCh38: 5:177398351-177398351
27 SLC34A1 NM_003052.5(SLC34A1):c.*196C>T SNV Uncertain significance 905164 GRCh37: 5:176825483-176825483
GRCh38: 5:177398482-177398482
28 SLC34A1 NM_003052.5(SLC34A1):c.*212G>T SNV Uncertain significance 905165 GRCh37: 5:176825499-176825499
GRCh38: 5:177398498-177398498
29 SLC34A1 NM_003052.5(SLC34A1):c.644G>A (p.Arg215Gln) SNV Likely benign 906677 GRCh37: 5:176814874-176814874
GRCh38: 5:177387873-177387873
30 SLC34A1 NM_003052.5(SLC34A1):c.397G>A (p.Ala133Thr) SNV Likely benign 905096 GRCh37: 5:176813432-176813432
GRCh38: 5:177386431-177386431
31 SLC34A1 NM_003052.5(SLC34A1):c.1443C>T (p.Asn481=) SNV Likely benign 904364 GRCh37: 5:176824810-176824810
GRCh38: 5:177397809-177397809
32 SLC34A1 NM_003052.5(SLC34A1):c.654G>A (p.Ala218=) SNV Likely benign 352963 rs150592440 GRCh37: 5:176815004-176815004
GRCh38: 5:177388003-177388003
33 SLC34A1 NM_003052.5(SLC34A1):c.123C>T (p.Ile41=) SNV Likely benign 352955 rs759907707 GRCh37: 5:176813001-176813001
GRCh38: 5:177386000-177386000
34 SLC34A1 NM_003052.5(SLC34A1):c.883T>A (p.Ser295Thr) SNV Likely benign 352967 rs763096294 GRCh37: 5:176815320-176815320
GRCh38: 5:177388319-177388319
35 SLC34A1 NM_003052.5(SLC34A1):c.1469C>T (p.Pro490Leu) SNV Likely benign 352972 rs372577906 GRCh37: 5:176824836-176824836
GRCh38: 5:177397835-177397835
36 SLC34A1 NM_003052.5(SLC34A1):c.1174+9C>T SNV Likely benign 907704 GRCh37: 5:176821205-176821205
GRCh38: 5:177394204-177394204
37 SLC34A1 NM_003052.5(SLC34A1):c.398C>T (p.Ala133Val) SNV Likely benign 352960 rs148976897 GRCh37: 5:176813433-176813433
GRCh38: 5:177386432-177386432
38 F12 , SLC34A1 NM_003052.5(SLC34A1):c.1635C>T (p.Gly545=) SNV Benign 352974 rs7379524 GRCh37: 5:176825002-176825002
GRCh38: 5:177398001-177398001
39 F12 , SLC34A1 NM_003052.5(SLC34A1):c.1702C>T (p.His568Tyr) SNV Benign 352975 rs34225933 GRCh37: 5:176825069-176825069
GRCh38: 5:177398068-177398068
40 F12 , SLC34A1 NM_003052.5(SLC34A1):c.1719A>G (p.Leu573=) SNV Benign 352976 rs148575220 GRCh37: 5:176825086-176825086
GRCh38: 5:177398085-177398085
41 F12 , SLC34A1 NM_003052.5(SLC34A1):c.*179G>A SNV Benign 352979 rs141664220 GRCh37: 5:176825466-176825466
GRCh38: 5:177398465-177398465
42 F12 , SLC34A1 NM_003052.5(SLC34A1):c.*202A>C SNV Benign 352980 rs6556319 GRCh37: 5:176825489-176825489
GRCh38: 5:177398488-177398488
43 F12 , SLC34A1 NM_003052.5(SLC34A1):c.*361T>C SNV Benign 352983 rs539754545 GRCh37: 5:176825648-176825648
GRCh38: 5:177398647-177398647
44 F12 , SLC34A1 NM_003052.5(SLC34A1):c.*485G>A SNV Benign 352985 rs143160780 GRCh37: 5:176825772-176825772
GRCh38: 5:177398771-177398771
45 SLC34A1 NM_003052.5(SLC34A1):c.1416+5G>A SNV Benign 352971 rs202081023 GRCh37: 5:176824080-176824080
GRCh38: 5:177397079-177397079
46 F12 , SLC34A1 NM_003052.5(SLC34A1):c.1483C>T (p.Arg495Cys) SNV Benign 352973 rs199565633 GRCh37: 5:176824850-176824850
GRCh38: 5:177397849-177397849
47 SLC34A1 NM_003052.5(SLC34A1):c.*315C>T SNV Benign 906756 GRCh37: 5:176825602-176825602
GRCh38: 5:177398601-177398601
48 SLC34A1 NM_003052.5(SLC34A1):c.388+10G>C SNV Benign 780592 rs59750868 GRCh37: 5:176813360-176813360
GRCh38: 5:177386359-177386359
49 SLC34A1 NM_003052.5(SLC34A1):c.782G>A (p.Arg261His) SNV Benign 352966 rs144306414 GRCh37: 5:176815132-176815132
GRCh38: 5:177388131-177388131
50 SLC34A1 NM_003052.5(SLC34A1):c.*431C>T SNV Benign 907755 GRCh37: 5:176825718-176825718
GRCh38: 5:177398717-177398717

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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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