NPHLOP1
MCID: NPH056
MIFTS: 28

Nephrolithiasis/osteoporosis, Hypophosphatemic, 1 (NPHLOP1)

Categories: Bone diseases, Genetic diseases, Nephrological diseases

Aliases & Classifications for Nephrolithiasis/osteoporosis, Hypophosphatemic, 1

MalaCards integrated aliases for Nephrolithiasis/osteoporosis, Hypophosphatemic, 1:

Name: Nephrolithiasis/osteoporosis, Hypophosphatemic, 1 57 75 29 13 6
Nphlop1 57 75
Nephrolithiasis/osteoporosis, Hypophosphatemic, Type 1 40
Nephrolithiasis-Osteoporosis, Hypophosphatemic, 1 73
Hypophosphatemic Nephrolithiasis/osteoporosis 1 12
Hypophosphatemia, Familial 44

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
nephrolithiasis/osteoporosis, hypophosphatemic, 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 612286
Disease Ontology 12 DOID:0080077
MedGen 42 C2676786
UMLS 73 C2676786

Summaries for Nephrolithiasis/osteoporosis, Hypophosphatemic, 1

UniProtKB/Swiss-Prot : 75 Nephrolithiasis/osteoporosis, hypophosphatemic, 1: A disease characterized by decreased renal phosphate absorption, renal phosphate wasting, hypophosphatemia, hyperphosphaturia, hypercalciuria, nephrolithiasis and osteoporosis.

MalaCards based summary : Nephrolithiasis/osteoporosis, Hypophosphatemic, 1, also known as nphlop1, is related to hypophosphatemia and rickets. An important gene associated with Nephrolithiasis/osteoporosis, Hypophosphatemic, 1 is SLC34A1 (Solute Carrier Family 34 Member 1). Affiliated tissues include bone, and related phenotypes are osteopenia and hypophosphatemia

Description from OMIM: 612286

Related Diseases for Nephrolithiasis/osteoporosis, Hypophosphatemic, 1

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

Nephrolithiasis/osteoporosis, Hypophosphatemic, 2

Diseases related to Nephrolithiasis/osteoporosis, Hypophosphatemic, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hypophosphatemia 10.1
2 rickets 10.0
3 hypophosphatemic rickets, x-linked dominant 9.9
4 hereditary hypophosphatemic rickets 9.9

Symptoms & Phenotypes for Nephrolithiasis/osteoporosis, Hypophosphatemic, 1

Symptoms via clinical synopsis from OMIM:

57
Skeletal:
osteopenia
osteoporosis
increased susceptibility to fractures

Genitourinary Kidneys:
nephrolithiasis
renal phosphate wasting

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

Skeletal Spine:
spinal deformity


Clinical features from OMIM:

612286

Human phenotypes related to Nephrolithiasis/osteoporosis, Hypophosphatemic, 1:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 osteopenia 32 HP:0000938
2 hypophosphatemia 32 HP:0002148
3 osteoporosis 32 HP:0000939
4 hypercalciuria 32 HP:0002150
5 nephrolithiasis 32 HP:0000787
6 increased susceptibility to fractures 32 HP:0002659
7 renal phosphate wasting 32 HP:0000117
8 hyperphosphaturia 32 HP:0003109

Drugs & Therapeutics for Nephrolithiasis/osteoporosis, Hypophosphatemic, 1

Search Clinical Trials , NIH Clinical Center for Nephrolithiasis/osteoporosis, Hypophosphatemic, 1

Cochrane evidence based reviews: hypophosphatemia, familial

Genetic Tests for Nephrolithiasis/osteoporosis, Hypophosphatemic, 1

Genetic tests related to Nephrolithiasis/osteoporosis, Hypophosphatemic, 1:

# Genetic test Affiliating Genes
1 Nephrolithiasis/osteoporosis, Hypophosphatemic, 1 29 SLC34A1

Anatomical Context for Nephrolithiasis/osteoporosis, Hypophosphatemic, 1

MalaCards organs/tissues related to Nephrolithiasis/osteoporosis, Hypophosphatemic, 1:

41
Bone

Publications for Nephrolithiasis/osteoporosis, Hypophosphatemic, 1

Articles related to Nephrolithiasis/osteoporosis, Hypophosphatemic, 1:

# Title Authors Year
1
Radiologic vignette. X-linked hypophosphatemia (familial vitamin D-resistant rickets). ( 8129801 )
1994
2
X-linked hypophosphatemia (familial or sex-linked vitamin-D-resistant rickets). X-linked hypophosphatemic (Hyp) mice. ( 2982272 )
1985

Variations for Nephrolithiasis/osteoporosis, Hypophosphatemic, 1

UniProtKB/Swiss-Prot genetic disease variations for Nephrolithiasis/osteoporosis, Hypophosphatemic, 1:

75
# Symbol AA change Variation ID SNP ID
1 SLC34A1 p.Ala48Phe VAR_024765 rs121918610
2 SLC34A1 p.Val147Met VAR_024766 rs121918611

ClinVar genetic disease variations for Nephrolithiasis/osteoporosis, Hypophosphatemic, 1:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC34A1 NM_003052.4(SLC34A1): c.142_143delGCinsTT (p.Ala48Phe) indel Pathogenic rs121918610 GRCh37 Chromosome 5, 176813020: 176813021
2 SLC34A1 NM_003052.4(SLC34A1): c.142_143delGCinsTT (p.Ala48Phe) indel Pathogenic rs121918610 GRCh38 Chromosome 5, 177386019: 177386020
3 SLC34A1 NM_003052.4(SLC34A1): c.439G> A (p.Val147Met) single nucleotide variant Pathogenic rs121918611 GRCh37 Chromosome 5, 176813474: 176813474
4 SLC34A1 NM_003052.4(SLC34A1): c.439G> A (p.Val147Met) single nucleotide variant Pathogenic rs121918611 GRCh38 Chromosome 5, 177386473: 177386473
5 SLC34A1 NM_003052.4(SLC34A1): c.934C> T (p.Gln312Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 5, 177388370: 177388370
6 SLC34A1 NM_003052.4(SLC34A1): c.934C> T (p.Gln312Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 5, 176815371: 176815371

Expression for Nephrolithiasis/osteoporosis, Hypophosphatemic, 1

Search GEO for disease gene expression data for Nephrolithiasis/osteoporosis, Hypophosphatemic, 1.

Pathways for Nephrolithiasis/osteoporosis, Hypophosphatemic, 1

GO Terms for Nephrolithiasis/osteoporosis, Hypophosphatemic, 1

Sources for Nephrolithiasis/osteoporosis, Hypophosphatemic, 1

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....