MCID: NPH056
MIFTS: 22

Nephrolithiasis/osteoporosis, Hypophosphatemic, 1

Categories: Genetic diseases, Nephrological diseases, Bone 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 rickets and hereditary hypophosphatemic rickets. An important gene associated with Nephrolithiasis/osteoporosis, Hypophosphatemic, 1 is SLC34A1 (Solute Carrier Family 34 Member 1). Related phenotypes are renal phosphate wasting and nephrolithiasis

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 rickets 9.8
2 hereditary hypophosphatemic rickets 9.8
3 hypophosphatemic rickets, x-linked dominant 9.8
4 hypophosphatemia 9.8

Symptoms & Phenotypes for Nephrolithiasis/osteoporosis, Hypophosphatemic, 1

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
hypercalciuria
increased serum 1,25-dihydroxyvitamin d


Clinical features from OMIM:

612286

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

32 (show all 8)
# 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 hypercalciuria 32 HP:0002150
7 increased susceptibility to fractures 32 HP:0002659
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

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

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10 dbSNP
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17 ExPASy
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34 ICD10 via Orphanet
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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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