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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Disease Browser
Parent Node: Nephrolithiasis (D053040)
Parent Node: Osteoporosis (D010024)
..Starting node ..NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1 (OMIM:612286)
Child Nodes:
Sister Nodes:
..Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis (C565960)
..BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15 (OMIM:613418)
..Exudative vitreoretinopathy 1 (C536382)
..Female Athlete Triad Syndrome (D053716)
..Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy (C564264)
..Hernandez Fragoso syndrome (C536062)
..Juvenile osteoporosis (C537700)
..Macroepiphyseal dysplasia, McAlister Coe type (C537721)
..Nephrolithiasis-Osteoporosis, Hypophosphatemic, 1 (C567363)
..Nephrolithiasis-Osteoporosis, Hypophosphatemic, 2 (C567362)
..NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1 (OMIM:612286)
..NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2 (OMIM:612287)
..Neurologic Disease, Infantile Multisystem, with Osseous Fragility (C564954)
..Osteoporosis, Postmenopausal (D015663)
..Prader-Willi habitus, osteopenia, and camptodactyly (C538276)
..Premature aging, Okamoto type (C535270)
..Singleton Merten syndrome (C537343)
..Winchester syndrome (C536709)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

7875

Name:

NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1

Definition:

Alternative IDs:

ParentIDs:

MESH:D010024|MESH:D053040

TreeNumbers:

C05.116.198.579/612286 |C12.777.419.600/612286 |C12.777.967.249/612286 |C13.351.968.419.600/612286 |C13.351.968.967.249/612286

Synonyms:

NPHLOP1

Slim Mappings:

Musculoskeletal disease|Urogenital disease (female)|Urogenital disease (male)

Reference:

MedGen: 612286
MeSH: 612286
OMIM: 612286;

Genes: SLC34A1;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0002150	Hypercalciuria
3	HP:0003109	Hyperphosphaturia
4	HP:0002148	Hypophosphatemia
5	HP:0002659	Increased susceptibility to fractures
6	HP:0000787	Nephrolithiasis
7	HP:0000938	Osteopenia
8	HP:0000939	Osteoporosis
9	HP:0000117	Renal phosphate wasting

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar	Disease_hgmd
NM_003052.4(SLC34A1):c.142_143delGCinsTT (p.Ala48Phe)	6569	SLC34A1	Pathogenic	121918610	RCV000013794;	N	MedGen:C2676786,OMIM:612286	5	176813020	176813021	NM_003052.4:c.142_143delGCinsTT	NP_003043.3:p.Ala48Phe	NC_000005.9:g.176813020_176813021delGCinsTT	OMIM Allelic Variant:182309.0001	C2676786 612286 Nephrolithiasis/osteoporosis, hypophosphatemic, 1
NM_003052.4(SLC34A1):c.439G>A (p.Val147Met)	6569	SLC34A1	Pathogenic	121918611	RCV000013795;	N	MedGen:C2676786,OMIM:612286	5	176813474	176813474	NM_003052.4:c.439G>A	NP_003043.3:p.Val147Met	NC_000005.9:g.176813474G>A	OMIM Allelic Variant:182309.0002	C2676786 612286 Nephrolithiasis/osteoporosis, hypophosphatemic, 1