MCID: NPH042
MIFTS: 19

Nephrolithiasis/osteoporosis, Hypophosphatemic, 2

Categories: Genetic diseases, Nephrological diseases, Bone diseases

Aliases & Classifications for Nephrolithiasis/osteoporosis, Hypophosphatemic, 2

MalaCards integrated aliases for Nephrolithiasis/osteoporosis, Hypophosphatemic, 2:

Name: Nephrolithiasis/osteoporosis, Hypophosphatemic, 2 57 75 29 13 6
Nphlop2 57 75
Nephrolithiasis/osteoporosis, Hypophosphatemic, Type 2 40
Nephrolithiasis-Osteoporosis, Hypophosphatemic, 2 73
Hypophosphatemic Nephrolithiasis/osteoporosis 2 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
nephrolithiasis/osteoporosis, hypophosphatemic, 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 612287
Disease Ontology 12 DOID:0080078
MedGen 42 C2676782
UMLS 73 C2676782

Summaries for Nephrolithiasis/osteoporosis, Hypophosphatemic, 2

UniProtKB/Swiss-Prot : 75 Nephrolithiasis/osteoporosis, hypophosphatemic, 2: A disease characterized by decreased renal phosphate absorption, renal phosphate wasting, hypophosphatemia, hyperphosphaturia, hypercalciuria, nephrolithiasis and osteoporosis.

MalaCards based summary : Nephrolithiasis/osteoporosis, Hypophosphatemic, 2, is also known as nphlop2. An important gene associated with Nephrolithiasis/osteoporosis, Hypophosphatemic, 2 is SLC9A3R1 (SLC9A3 Regulator 1). Related phenotypes are renal phosphate wasting and nephrolithiasis

Description from OMIM: 612287

Related Diseases for Nephrolithiasis/osteoporosis, Hypophosphatemic, 2

Diseases in the Nephrolithiasis/osteoporosis, Hypophosphatemic, 1 family:

Nephrolithiasis/osteoporosis, Hypophosphatemic, 2

Symptoms & Phenotypes for Nephrolithiasis/osteoporosis, Hypophosphatemic, 2

Symptoms via clinical synopsis from OMIM:

57
Genitourinary Kidneys:
nephrolithiasis
renal phosphate wasting

Skeletal Spine:
spinal deformity

Skeletal:
osteopenia
osteoporosis
increased susceptibility to fractures

Laboratory Abnormalities:
hypophosphatemia
hyperphosphaturia
increased serum 1,25-dihydroxyvitamin d


Clinical features from OMIM:

612287

Human phenotypes related to Nephrolithiasis/osteoporosis, Hypophosphatemic, 2:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 renal phosphate wasting 32 HP:0000117
2 nephrolithiasis 32 HP:0000787
3 osteopenia 32 HP:0000938
4 osteoporosis 32 HP:0000939
5 hypophosphatemia 32 HP:0002148
6 increased susceptibility to fractures 32 HP:0002659
7 hyperphosphaturia 32 HP:0003109

Drugs & Therapeutics for Nephrolithiasis/osteoporosis, Hypophosphatemic, 2

Search Clinical Trials , NIH Clinical Center for Nephrolithiasis/osteoporosis, Hypophosphatemic, 2

Genetic Tests for Nephrolithiasis/osteoporosis, Hypophosphatemic, 2

Genetic tests related to Nephrolithiasis/osteoporosis, Hypophosphatemic, 2:

# Genetic test Affiliating Genes
1 Nephrolithiasis/osteoporosis, Hypophosphatemic, 2 29 SLC9A3R1

Anatomical Context for Nephrolithiasis/osteoporosis, Hypophosphatemic, 2

Publications for Nephrolithiasis/osteoporosis, Hypophosphatemic, 2

Variations for Nephrolithiasis/osteoporosis, Hypophosphatemic, 2

UniProtKB/Swiss-Prot genetic disease variations for Nephrolithiasis/osteoporosis, Hypophosphatemic, 2:

75
# Symbol AA change Variation ID SNP ID
1 SLC9A3R1 p.Leu110Val VAR_034899 rs35910969
2 SLC9A3R1 p.Arg153Gln VAR_048021 rs41282065
3 SLC9A3R1 p.Glu225Lys VAR_048022 rs119486097
4 SLC9A3R1 p.Glu68Ala VAR_067661 rs139622189

Expression for Nephrolithiasis/osteoporosis, Hypophosphatemic, 2

Search GEO for disease gene expression data for Nephrolithiasis/osteoporosis, Hypophosphatemic, 2.

Pathways for Nephrolithiasis/osteoporosis, Hypophosphatemic, 2

GO Terms for Nephrolithiasis/osteoporosis, Hypophosphatemic, 2

Sources for Nephrolithiasis/osteoporosis, Hypophosphatemic, 2

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
Content
Loading form....