NPHLOP2
MCID: NPH042
MIFTS: 20

Nephrolithiasis/osteoporosis, Hypophosphatemic, 2 (NPHLOP2)

Categories: Bone diseases, Genetic diseases, Nephrological 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). Affiliated tissues include bone, and related phenotypes are osteopenia and hypophosphatemia

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
Skeletal:
osteopenia
osteoporosis
increased susceptibility to fractures

Genitourinary Kidneys:
nephrolithiasis
renal phosphate wasting

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

Skeletal Spine:
spinal deformity


Clinical features from OMIM:

612287

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

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

MalaCards organs/tissues related to Nephrolithiasis/osteoporosis, Hypophosphatemic, 2:

41
Bone

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

ClinVar genetic disease variations for Nephrolithiasis/osteoporosis, Hypophosphatemic, 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC9A3R1 NM_004252.4(SLC9A3R1): c.328C> G (p.Leu110Val) single nucleotide variant Conflicting interpretations of pathogenicity rs35910969 GRCh37 Chromosome 17, 72745313: 72745313
2 SLC9A3R1 NM_004252.4(SLC9A3R1): c.328C> G (p.Leu110Val) single nucleotide variant Conflicting interpretations of pathogenicity rs35910969 GRCh38 Chromosome 17, 74749174: 74749174
3 SLC9A3R1 NM_004252.4(SLC9A3R1): c.458G> A (p.Arg153Gln) single nucleotide variant Uncertain significance rs41282065 GRCh37 Chromosome 17, 72758167: 72758167
4 SLC9A3R1 NM_004252.4(SLC9A3R1): c.458G> A (p.Arg153Gln) single nucleotide variant Uncertain significance rs41282065 GRCh38 Chromosome 17, 74762028: 74762028
5 SLC9A3R1 NM_004252.4(SLC9A3R1): c.673G> A (p.Glu225Lys) single nucleotide variant Likely benign rs119486097 GRCh37 Chromosome 17, 72759575: 72759575
6 SLC9A3R1 NM_004252.4(SLC9A3R1): c.673G> A (p.Glu225Lys) single nucleotide variant Likely benign rs119486097 GRCh38 Chromosome 17, 74763436: 74763436
7 SLC9A3R1 NM_004252.4(SLC9A3R1): c.657C> G (p.Ile219Met) single nucleotide variant Uncertain significance rs147104235 GRCh37 Chromosome 17, 72759559: 72759559
8 SLC9A3R1 NM_004252.4(SLC9A3R1): c.657C> G (p.Ile219Met) single nucleotide variant Uncertain significance rs147104235 GRCh38 Chromosome 17, 74763420: 74763420

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
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10 dbSNP
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17 ExPASy
19 FMA
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58 OMIM via Orphanet
62 PubMed
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
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74 UMLS via Orphanet
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