Human Phenotype Ontology 
Grandparent Node:
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Abnormal circulating calcium concentration (HP:0004363)help
Grandparent Node:
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Abnormal urinary electrolyte concentration (HP:0012591)help
Parent Node:
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Abnormality of urine calcium concentration (HP:0011280)help
..Starting node
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Hypercalciuria (HP:0002150)help
Term ID: 2150
Name: Hypercalciuria
Synonym: Elevated urine calcium levels; Hypercalcinuria
Definition:
Comments:
Reference: HP:0002150
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandHypocalciuria (HP:0003127) help
..expandReduced ratio of renal calcium clearance to creatinine clearance (HP:0003513) help
..expandRenal calcium wasting (HP:0012637) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002150HP:0002150Hypercalciuria0ADCY10 CL E G H5581121285OMIM:143870Hypercalciuria, absorptive, susceptibility to.5
HP:0002150HP:0002150Hypercalciuria0ADCY10 CL E G H5581121285ORPHA:2197Idiopathic hypercalciuriaHP:0040280 - Obligate5
HP:0002150HP:0002150Hypercalciuria0ALPL CL E G H249438OMIM:241500Hypophosphatasia, infantile.126
HP:0002150HP:0002150Hypercalciuria0AMMECR1 CL E G H9949467OMIM:300990Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis2
HP:0002150HP:0002150Hypercalciuria0ATP6V0A4 CL E G H50617866OMIM:602722RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE; RTADR64
HP:0002150HP:0002150Hypercalciuria0ATP7B CL E G H540870OMIM:277900Wilson disease.315
HP:0002150HP:0002150Hypercalciuria0BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0002150HP:0002150Hypercalciuria0BCL7B CL E G H92751005ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0002150HP:0002150Hypercalciuria0BSND CL E G H780916512ORPHA:89938Infantile Bartter syndrome with sensorineural deafnessHP:0040282 - Frequent53
HP:0002150HP:0002150Hypercalciuria0BTNL2 CL E G H562441142ORPHA:797SarcoidosisHP:0040283 - Occasional1
HP:0002150HP:0002150Hypercalciuria0BUD23 CL E G H11404916405ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0002150HP:0002150Hypercalciuria0CASR CL E G H8461514ORPHA:428Autosomal dominant hypocalcemiaHP:0040281 - Very frequent272
HP:0002150HP:0002150Hypercalciuria0CASR CL E G H8461514OMIM:239200Hyperparathyroidism, neonatal severe.272
HP:0002150HP:0002150Hypercalciuria0CASR CL E G H8461514OMIM:601198Hypocalcemia, autosomal dominant 1272
HP:0002150HP:0002150Hypercalciuria0CASR CL E G H8461514OMIM:145980Hypocalciuric hypercalcemia, familial, type IHP:0040284 - Very rare272
HP:0002150HP:0002150Hypercalciuria0CDC73 CL E G H7957716783ORPHA:99879Familial isolated hyperparathyroidismHP:0040281 - Very frequent169
HP:0002150HP:0002150Hypercalciuria0CDC73 CL E G H7957716783ORPHA:99880Hyperparathyroidism-jaw tumor syndromeHP:0040281 - Very frequent169
HP:0002150HP:0002150Hypercalciuria0CDC73 CL E G H7957716783ORPHA:143Parathyroid carcinomaHP:0040281 - Very frequent169
HP:0002150HP:0002150Hypercalciuria0CDKN1A CL E G H10261784ORPHA:652Multiple endocrine neoplasia type 1HP:0040282 - Frequent2
HP:0002150HP:0002150Hypercalciuria0CDKN1B CL E G H10271785ORPHA:652Multiple endocrine neoplasia type 1HP:0040282 - Frequent102
HP:0002150HP:0002150Hypercalciuria0CDKN1C CL E G H10281786OMIM:614732Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies.114
HP:0002150HP:0002150Hypercalciuria0CDKN2B CL E G H10301788ORPHA:652Multiple endocrine neoplasia type 1HP:0040282 - Frequent1
HP:0002150HP:0002150Hypercalciuria0CDKN2C CL E G H10311789ORPHA:652Multiple endocrine neoplasia type 1HP:0040282 - Frequent
HP:0002150HP:0002150Hypercalciuria0CFTR CL E G H10801884OMIM:219700Cystic fibrosis.1371
HP:0002150HP:0002150Hypercalciuria0CLCN5 CL E G H11842023OMIM:300009Dent disease 1112
HP:0002150HP:0002150Hypercalciuria0CLCN5 CL E G H11842023OMIM:300554Hypophosphatemic rickets, X-linked recessive.112
HP:0002150HP:0002150Hypercalciuria0CLCN5 CL E G H11842023OMIM:310468Nephrolithiasis, type I.112
HP:0002150HP:0002150Hypercalciuria0CLCN5 CL E G H11842023OMIM:308990Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis112
HP:0002150HP:0002150Hypercalciuria0CLCNKA CL E G H11872026ORPHA:89938Infantile Bartter syndrome with sensorineural deafnessHP:0040282 - Frequent9
HP:0002150HP:0002150Hypercalciuria0CLCNKB CL E G H11882027ORPHA:89938Infantile Bartter syndrome with sensorineural deafnessHP:0040282 - Frequent27
HP:0002150HP:0002150Hypercalciuria0CLDN16 CL E G H106862037OMIM:248250Hypomagnesemia 3, renal.58
HP:0002150HP:0002150Hypercalciuria0CLDN19 CL E G H1494612040OMIM:248190Hypomagnesemia 5, renal, with or without ocular involvement.42
HP:0002150HP:0002150Hypercalciuria0CLIP2 CL E G H74612586ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0002150HP:0002150Hypercalciuria0CYP24A1 CL E G H15912602OMIM:143880Hypercalcemia, infantile, 1.73
HP:0002150HP:0002150Hypercalciuria0DNAJC30 CL E G H8427716410ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0002150HP:0002150Hypercalciuria0EHHADH CL E G H19623247ORPHA:3337Primary Fanconi renotubular syndromeHP:0040283 - Occasional2
HP:0002150HP:0002150Hypercalciuria0EIF4H CL E G H745812741ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0002150HP:0002150Hypercalciuria0ELN CL E G H20063327ORPHA:904Williams syndromeHP:0040282 - Frequent172
HP:0002150HP:0002150Hypercalciuria0ELN CL E G H20063327OMIM:194050Williams-Beuren syndrome172
HP:0002150HP:0002150Hypercalciuria0FCGR2A CL E G H22123616OMIM:219700Cystic fibrosis.6
HP:0002150HP:0002150Hypercalciuria0FGF23 CL E G H80743680OMIM:617993TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 2; HFTC251
HP:0002150HP:0002150Hypercalciuria0FKBP6 CL E G H84683722ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0002150HP:0002150Hypercalciuria0GATM CL E G H26284175ORPHA:3337Primary Fanconi renotubular syndromeHP:0040283 - Occasional86
HP:0002150HP:0002150Hypercalciuria0GCM2 CL E G H92474198ORPHA:99879Familial isolated hyperparathyroidismHP:0040281 - Very frequent51
HP:0002150HP:0002150Hypercalciuria0GCM2 CL E G H92474198ORPHA:2239Familial isolated hypoparathyroidism due to agenesis of parathyroid glandHP:0040281 - Very frequent51
HP:0002150HP:0002150Hypercalciuria0GNA11 CL E G H27674379ORPHA:428Autosomal dominant hypocalcemiaHP:0040281 - Very frequent16
HP:0002150HP:0002150Hypercalciuria0GTF2I CL E G H29694659ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0002150HP:0002150Hypercalciuria0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0002150HP:0002150Hypercalciuria0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0002150HP:0002150Hypercalciuria0HLA-DRB1 CL E G H31234948ORPHA:797SarcoidosisHP:0040283 - Occasional2
HP:0002150HP:0002150Hypercalciuria0HLA-DRB1 CL E G H31234948OMIM:181000Sarcoidosis, susceptibility to, 1.2
HP:0002150HP:0002150Hypercalciuria0HNF1B CL E G H692811630ORPHA:1309Medullary sponge kidneyHP:0040282 - Frequent90
HP:0002150HP:0002150Hypercalciuria0INSR CL E G H36436091ORPHA:508LeprechaunismHP:0040283 - Occasional229
HP:0002150HP:0002150Hypercalciuria0KCNJ1 CL E G H37586255OMIM:241200Bartter syndrome, antenatal, type 2.51
HP:0002150HP:0002150Hypercalciuria0KCNJ5 CL E G H37626266ORPHA:251274Familial hyperaldosteronism type IIIHP:0040283 - Occasional128
HP:0002150HP:0002150Hypercalciuria0KCNJ5 CL E G H37626266OMIM:613677Hyperaldosteronism, familial, type IIIHP:0040283 - Occasional128
HP:0002150HP:0002150Hypercalciuria0LIMK1 CL E G H39846613ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0002150HP:0002150Hypercalciuria0MAGED2 CL E G H1091616353OMIM:300971Bartter syndrome, type 5, antenatal, transient6
HP:0002150HP:0002150Hypercalciuria0MEN1 CL E G H42217010ORPHA:99879Familial isolated hyperparathyroidismHP:0040281 - Very frequent462
HP:0002150HP:0002150Hypercalciuria0MEN1 CL E G H42217010ORPHA:652Multiple endocrine neoplasia type 1HP:0040282 - Frequent462
HP:0002150HP:0002150Hypercalciuria0METTL27 CL E G H15536819068ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0002150HP:0002150Hypercalciuria0MLXIPL CL E G H5108512744ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0002150HP:0002150Hypercalciuria0MLXIPL CL E G H5108512744OMIM:194050Williams-Beuren syndrome1
HP:0002150HP:0002150Hypercalciuria0NCF1 CL E G H6533617660ORPHA:904Williams syndromeHP:0040282 - Frequent13
HP:0002150HP:0002150Hypercalciuria0NDUFAF6 CL E G H13768228625ORPHA:3337Primary Fanconi renotubular syndromeHP:0040283 - Occasional39
HP:0002150HP:0002150Hypercalciuria0OCRL CL E G H49528108OMIM:300555Dent disease 288
HP:0002150HP:0002150Hypercalciuria0OCRL CL E G H49528108ORPHA:534Oculocerebrorenal syndrome of LoweHP:0040281 - Very frequent88
HP:0002150HP:0002150Hypercalciuria0PIGT CL E G H5160414938ORPHA:369837Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndromeHP:0040282 - Frequent12
HP:0002150HP:0002150Hypercalciuria0PIGT CL E G H5160414938OMIM:615398Multiple congenital anomalies-hypotonia-seizures syndrome 3.12
HP:0002150HP:0002150Hypercalciuria0PIK3C2A CL E G H52868971OMIM:618440Oculoskeletodental syndrome.
HP:0002150HP:0002150Hypercalciuria0PTH1R CL E G H57459608OMIM:156400Metaphyseal chondrodysplasia, Jansen type.58
HP:0002150HP:0002150Hypercalciuria0RFC2 CL E G H59829970ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0002150HP:0002150Hypercalciuria0SLC12A1 CL E G H655710910OMIM:601678Bartter syndrome, type 1, antenatal.75
HP:0002150HP:0002150Hypercalciuria0SLC22A12 CL E G H11608517989ORPHA:94088Hereditary renal hypouricemiaHP:0040283 - Occasional56
HP:0002150HP:0002150Hypercalciuria0SLC2A2 CL E G H651411006ORPHA:2088Fanconi-Bickel syndromeHP:0040282 - Frequent71
HP:0002150HP:0002150Hypercalciuria0SLC2A9 CL E G H5660613446ORPHA:94088Hereditary renal hypouricemiaHP:0040283 - Occasional57
HP:0002150HP:0002150Hypercalciuria0SLC34A1 CL E G H656911019OMIM:613388Fanconi renotubular syndrome 2.HP:0011463 - Childhood onset47
HP:0002150HP:0002150Hypercalciuria0SLC34A1 CL E G H656911019ORPHA:157215Hereditary hypophosphatemic rickets with hypercalciuriaHP:0040281 - Very frequent47
HP:0002150HP:0002150Hypercalciuria0SLC34A1 CL E G H656911019OMIM:616963HYPERCALCEMIA, INFANTILE, 2; HCINF247
HP:0002150HP:0002150Hypercalciuria0SLC34A1 CL E G H656911019OMIM:612286Nephrolithiasis/osteoporosis, hypophosphatemic, 1.47
HP:0002150HP:0002150Hypercalciuria0SLC34A1 CL E G H656911019ORPHA:3337Primary Fanconi renotubular syndromeHP:0040283 - Occasional47
HP:0002150HP:0002150Hypercalciuria0SLC34A3 CL E G H14268020305ORPHA:157215Hereditary hypophosphatemic rickets with hypercalciuriaHP:0040281 - Very frequent52
HP:0002150HP:0002150Hypercalciuria0SLC34A3 CL E G H14268020305OMIM:241530Hypophosphatemic rickets with hypercalciuria, hereditary.52
HP:0002150HP:0002150Hypercalciuria0STX1A CL E G H680411433ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0002150HP:0002150Hypercalciuria0TBL2 CL E G H2660811586ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0002150HP:0002150Hypercalciuria0TGFB1 CL E G H704011766OMIM:219700Cystic fibrosis.13
HP:0002150HP:0002150Hypercalciuria0TMEM270 CL E G H13588623018ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0002150HP:0002150Hypercalciuria0TNFRSF11B CL E G H498211909OMIM:239000Paget disease of bone 5, juvenile-onset44
HP:0002150HP:0002150Hypercalciuria0VPS37D CL E G H15538218287ORPHA:904Williams syndromeHP:0040282 - Frequent


Genes (67) :ADCY10 ALPL AMMECR1 ATP6V0A4 ATP7B BAZ1B BCL7B BSND BTNL2 BUD23 CASR CDC73 CDKN1A CDKN1B CDKN1C CDKN2B CDKN2C CFTR CLCN5 CLCNKA CLCNKB CLDN16 CLDN19 CLIP2 CYP24A1 DNAJC30 EHHADH EIF4H ELN FCGR2A FGF23 FKBP6 GATM GCM2 GNA11 GTF2I GTF2IRD1 GTF2IRD2 HLA-DRB1 HNF1B INSR KCNJ1 KCNJ5 LIMK1 MAGED2 MEN1 METTL27 MLXIPL NCF1 NDUFAF6 OCRL PIGT PIK3C2A PTH1R RFC2 SLC12A1 SLC22A12 SLC2A2 SLC2A9 SLC34A1 SLC34A3 STX1A TBL2 TGFB1 TMEM270 TNFRSF11B VPS37D

Diseases (52) :OMIM:143870 ORPHA:2197 OMIM:241500 OMIM:300990 OMIM:602722 OMIM:277900 ORPHA:904 ORPHA:89938 ORPHA:797 ORPHA:428 OMIM:239200 OMIM:601198 OMIM:145980 ORPHA:99879 ORPHA:99880 ORPHA:143 ORPHA:652 OMIM:614732 OMIM:219700 OMIM:300009 OMIM:300554 OMIM:310468 OMIM:308990 OMIM:248250 OMIM:248190 OMIM:143880 ORPHA:3337 OMIM:194050 OMIM:617993 ORPHA:2239 OMIM:181000 ORPHA:1309 ORPHA:508 OMIM:241200 ORPHA:251274 OMIM:613677 OMIM:300971 OMIM:300555 ORPHA:534 ORPHA:369837 OMIM:615398 OMIM:618440 OMIM:156400 OMIM:601678 ORPHA:94088 ORPHA:2088 OMIM:613388 ORPHA:157215 OMIM:616963 OMIM:612286 OMIM:241530 OMIM:239000
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.