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 GRCh37 Pos GRCh38 Pos
1 SLC34A1 NM_003052.5(SLC34A1):c.142_143delinsTT (p.Ala48Phe) Indel Pathogenic 12931 rs121918610 5:176813020-176813021 5:177386019-177386020
2 SLC34A1 NM_003052.5(SLC34A1):c.439G>A (p.Val147Met) SNV Pathogenic 12932 rs121918611 5:176813474-176813474 5:177386473-177386473
3 SLC34A1 NM_003052.5(SLC34A1):c.934C>T (p.Gln312Ter) SNV Pathogenic 433538 rs1554095568 5:176815371-176815371 5:177388370-177388370
4 SLC9A3R1 NM_004252.5(SLC9A3R1):c.673G>A (p.Glu225Lys) SNV Pathogenic 5272 rs119486097 17:72759575-72759575 17:74763436-74763436
5 SLC34A1 NM_003052.5(SLC34A1):c.*239C>A SNV Uncertain significance 352981 rs768911630 5:176825526-176825526 5:177398525-177398525
6 SLC9A3R1 NM_004252.5(SLC9A3R1):c.458G>A (p.Arg153Gln) SNV Uncertain significance 5271 rs41282065 17:72758167-72758167 17:74762028-74762028
7 SLC34A1 NM_003052.5(SLC34A1):c.*65G>A SNV Uncertain significance 905163 5:176825352-176825352 5:177398351-177398351
8 SLC34A1 NM_003052.5(SLC34A1):c.*196C>T SNV Uncertain significance 905164 5:176825483-176825483 5:177398482-177398482
9 SLC34A1 NM_003052.5(SLC34A1):c.*212G>T SNV Uncertain significance 905165 5:176825499-176825499 5:177398498-177398498
10 SLC34A1 NM_003052.5(SLC34A1):c.*241C>T SNV Uncertain significance 906754 5:176825528-176825528 5:177398527-177398527
11 SLC34A1 NM_003052.5(SLC34A1):c.*301T>C SNV Uncertain significance 906755 5:176825588-176825588 5:177398587-177398587
12 SLC34A1 NM_003052.5(SLC34A1):c.*331A>G SNV Uncertain significance 906757 5:176825618-176825618 5:177398617-177398617
13 SLC34A1 NM_003052.5(SLC34A1):c.*406C>T SNV Uncertain significance 907754 5:176825693-176825693 5:177398692-177398692
14 SLC34A1 NM_003052.5(SLC34A1):c.*505C>T SNV Uncertain significance 907756 5:176825792-176825792 5:177398791-177398791
15 SLC9A3R1 NM_004252.5(SLC9A3R1):c.657C>G (p.Ile219Met) SNV Uncertain significance 561111 rs147104235 17:72759559-72759559 17:74763420-74763420
16 SLC34A1 NM_003052.5(SLC34A1):c.*79G>C SNV Uncertain significance 352978 rs886060468 5:176825366-176825366 5:177398365-177398365
17 SLC34A1 NM_003052.5(SLC34A1):c.*392A>G SNV Uncertain significance 352984 rs886060470 5:176825679-176825679 5:177398678-177398678
18 SLC9A3R1 NM_004252.5(SLC9A3R1):c.328C>G (p.Leu110Val) SNV Uncertain significance 5270 rs35910969 17:72745313-72745313 17:74749174-74749174
19 SLC34A1 NM_003052.5(SLC34A1):c.-48G>C SNV Uncertain significance 352951 rs886060466 5:176811488-176811488 5:177384487-177384487
20 SLC34A1 NM_003052.5(SLC34A1):c.110-6C>T SNV Uncertain significance 352954 rs773115741 5:176812982-176812982 5:177385981-177385981
21 SLC34A1 NM_003052.5(SLC34A1):c.*323G>A SNV Uncertain significance 352982 rs886060469 5:176825610-176825610 5:177398609-177398609
22 SLC34A1 NM_003052.5(SLC34A1):c.*60G>A SNV Uncertain significance 352977 rs886060467 5:176825347-176825347 5:177398346-177398346
23 SLC34A1 NM_003052.5(SLC34A1):c.-68G>A SNV Uncertain significance 352950 rs774774202 5:176811468-176811468 5:177384467-177384467
24 SLC34A1 NM_003052.5(SLC34A1):c.1006+1G>A SNV Uncertain significance 234928 rs200095793 5:176820765-176820765 5:177393764-177393764
25 SLC34A1 NM_003052.5(SLC34A1):c.94G>A (p.Val32Met) SNV Uncertain significance 904292 5:176812836-176812836 5:177385835-177385835
26 SLC34A1 NM_003052.5(SLC34A1):c.1466A>G (p.Tyr489Cys) SNV Uncertain significance 904365 5:176824833-176824833 5:177397832-177397832
27 SLC34A1 NM_003052.5(SLC34A1):c.*52C>T SNV Uncertain significance 904366 5:176825339-176825339 5:177398338-177398338
28 SLC34A1 NM_003052.5(SLC34A1):c.315A>C (p.Pro105=) SNV Uncertain significance 905095 5:176813277-176813277 5:177386276-177386276
29 SLC34A1 NM_003052.5(SLC34A1):c.397G>A (p.Ala133Thr) SNV Likely benign 905096 5:176813432-176813432 5:177386431-177386431
30 SLC34A1 NM_003052.5(SLC34A1):c.1443C>T (p.Asn481=) SNV Likely benign 904364 5:176824810-176824810 5:177397809-177397809
31 SLC34A1 NM_003052.5(SLC34A1):c.654G>A (p.Ala218=) SNV Likely benign 352963 rs150592440 5:176815004-176815004 5:177388003-177388003
32 SLC34A1 NM_003052.5(SLC34A1):c.123C>T (p.Ile41=) SNV Likely benign 352955 rs759907707 5:176813001-176813001 5:177386000-177386000
33 SLC34A1 NM_003052.5(SLC34A1):c.883T>A (p.Ser295Thr) SNV Likely benign 352967 rs763096294 5:176815320-176815320 5:177388319-177388319
34 SLC34A1 NM_003052.5(SLC34A1):c.1469C>T (p.Pro490Leu) SNV Likely benign 352972 rs372577906 5:176824836-176824836 5:177397835-177397835
35 SLC34A1 NM_003052.5(SLC34A1):c.1174+9C>T SNV Likely benign 907704 5:176821205-176821205 5:177394204-177394204
36 SLC34A1 NM_003052.5(SLC34A1):c.644G>A (p.Arg215Gln) SNV Likely benign 906677 5:176814874-176814874 5:177387873-177387873
37 SLC34A1 NM_003052.5(SLC34A1):c.398C>T (p.Ala133Val) SNV Likely benign 352960 rs148976897 5:176813433-176813433 5:177386432-177386432
38 F12 NM_003052.5(SLC34A1):c.1483C>T (p.Arg495Cys) SNV Benign 352973 rs199565633 5:176824850-176824850 5:177397849-177397849
39 F12 NM_003052.5(SLC34A1):c.1635C>T (p.Gly545=) SNV Benign 352974 rs7379524 5:176825002-176825002 5:177398001-177398001
40 F12 NM_003052.5(SLC34A1):c.1702C>T (p.His568Tyr) SNV Benign 352975 rs34225933 5:176825069-176825069 5:177398068-177398068
41 F12 NM_003052.5(SLC34A1):c.1719A>G (p.Leu573=) SNV Benign 352976 rs148575220 5:176825086-176825086 5:177398085-177398085
42 F12 NM_003052.5(SLC34A1):c.*179G>A SNV Benign 352979 rs141664220 5:176825466-176825466 5:177398465-177398465
43 F12 NM_003052.5(SLC34A1):c.*202A>C SNV Benign 352980 rs6556319 5:176825489-176825489 5:177398488-177398488
44 F12 NM_003052.5(SLC34A1):c.*361T>C SNV Benign 352983 rs539754545 5:176825648-176825648 5:177398647-177398647
45 F12 NM_003052.5(SLC34A1):c.*485G>A SNV Benign 352985 rs143160780 5:176825772-176825772 5:177398771-177398771
46 SLC34A1 NM_003052.5(SLC34A1):c.*315C>T SNV Benign 906756 5:176825602-176825602 5:177398601-177398601
47 SLC34A1 NM_003052.5(SLC34A1):c.774T>C (p.His258=) SNV Benign 352965 rs5030873 5:176815124-176815124 5:177388123-177388123
48 SLC34A1 NM_003052.5(SLC34A1):c.284G>A (p.Arg95His) SNV Benign 252613 rs145798898 5:176813246-176813246 5:177386245-177386245
49 SLC34A1 NM_003052.5(SLC34A1):c.437C>T (p.Pro146Leu) SNV Benign 352961 rs548844573 5:176813472-176813472 5:177386471-177386471
50 SLC34A1 NM_003052.5(SLC34A1):c.388+10G>C SNV Benign 780592 rs59750868 5:176813360-176813360 5:177386359-177386359

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
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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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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