KEGG DISEASE: Nephrolithiasis/osteoporosis, hypophosphatemic

DISEASE: Nephrolithiasis/osteoporosis, hypophosphatemic

Entry

H00888                      Disease

Name

Nephrolithiasis/osteoporosis, hypophosphatemic

Description

Nephrolithiasis/osteoporosis, hypophosphatemic (NPHLOP) is a genetically heterologous group of disorders characterized by the formation of renal calcium stones or bone demineralization due to impaired renal phosphate reabsorption. It is caused by either mutations in SLC34A1, a sodium-phosphate cotransporter expressed in kidney and polarized osteoclasts, or in sodium-hydrogen exchanger regulatory factor (NHERF)1, that controls renal phosphate transport by trafficking SLC34A1.

Category

Urinary system disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
16 Diseases of the genitourinary system
  Diseases of the urinary system
   GB90  Certain specified disorders of kidney or ureter
    H00888  Nephrolithiasis/osteoporosis, hypophosphatemic
Pathway-based classification of diseases [BR:br08402]
Endocrine system
  nt06325  Hormone/cytokine signaling
   H00888  Nephrolithiasis/osteoporosis, hypophosphatemic

Pathway

hsa04928 Parathyroid hormone synthesis, secretion and action

Network

nt06325 Hormone/cytokine signaling

Gene

(NPHLOP1) SLC34A1 [HSA:6569] [KO:K14683]
(NPHLOP2) NHERF1 [HSA:9368] [KO:K13365]

Other DBs

ICD-11:

GB90.48

MeSH:

C567363 C567362

OMIM:

612286 612287

Reference

PMID:20924400

Authors

Alizadeh Naderi AS, Reilly RF

Title

Hereditary disorders of renal phosphate wasting.

Journal

Nat Rev Nephrol 6:657-65 (2010)
DOI:10.1038/nrneph.2010.121

Reference

PMID:15483460

Authors

Prie D, Beck L, Friedlander G, Silve C

Title

Sodium-phosphate cotransporters, nephrolithiasis and bone demineralization.

Journal

Curr Opin Nephrol Hypertens 13:675-81 (2004)
DOI:10.1097/00041552-200411000-00015

Reference

PMID:12324554 (SLC34A1)

Authors

Prie D, Huart V, Bakouh N, Planelles G, Dellis O, Gerard B, Hulin P, Benque-Blanchet F, Silve C, Grandchamp B, Friedlander G

Title

Nephrolithiasis and osteoporosis associated with hypophosphatemia caused by mutations in the type 2a sodium-phosphate cotransporter.

Journal

N Engl J Med 347:983-91 (2002)
DOI:10.1056/NEJMoa020028

Reference

PMID:18784102 (NHERF1)

Authors

Karim Z, Gerard B, Bakouh N, Alili R, Leroy C, Beck L, Silve C, Planelles G, Urena-Torres P, Grandchamp B, Friedlander G, Prie D

Title

NHERF1 mutations and responsiveness of renal parathyroid hormone.

Journal

N Engl J Med 359:1128-35 (2008)
DOI:10.1056/NEJMoa0802836

LinkDB

» Japanese version

DISEASE: Fanconi renotubular syndrome

Entry

H01198                      Disease

Name

Fanconi renotubular syndrome

Description

Fanconi renotubular syndrome (FRTS) is a disease resulting from a generalized dysfunction of the proximal kidney tubule leading to decreased solute and water reabsorption. Patients had a generalized proximal tubulopathy, renal phosphate wasting, bone mineral deficiency, and decreased glomerular filtration rates. It is reported that mutations in SLC34A1, which encodes the renal sodium-inorganic phosphate cotransporter NaPi-IIa, may cause this disease.

Category

Inherited metabolic disorder

Brite

Human diseases in ICD-11 classification [BR:br08403]
16 Diseases of the genitourinary system
  Diseases of the urinary system
   GB90  Certain specified disorders of kidney or ureter
    H01198  Fanconi renotubular syndrome
Pathway-based classification of diseases [BR:br08402]
Endocrine system
  nt06325  Hormone/cytokine signaling
   H01198  Fanconi renotubular syndrome

Pathway

hsa04928

Parathyroid hormone synthesis, secretion and action

Network

nt06325 Hormone/cytokine signaling

Gene

(FRTS1) GATM [HSA:2628] [KO:K00613]
(FRTS2) SLC34A1 [HSA:6569] [KO:K14683]
(FRTS3) EHHADH [HSA:1962] [KO:K07514]
(FRTS4) HNF4A [HSA:3172] [KO:K07292]
(FRTS5) NDUFAF6 [HSA:137682] [KO:K18163]

Other DBs

ICD-11:

GB90.42

ICD-10:

E72.0

MeSH:

D005198

OMIM:

134600 613388 615605 616026 618913

Reference

PMID:29654216 (FRTS1)

Authors

Reichold M, Klootwijk ED, Reinders J, Otto EA, Milani M, Broeker C, Laing C, Wiesner J, Devi S, Zhou W, Schmitt R, Tegtmeier I, Sterner C, Doellerer H, Renner K, Oefner PJ, Dettmer K, Simbuerger JM, Witzgall R, Stanescu HC, Dumitriu S, Iancu D, Patel V, Mozere M, Tekman M, Jaureguiberry G, Issler N, Kesselheim A, Walsh SB, Gale DP, Howie AJ, Martins JR, Hall AM, Kasgharian M, O'Brien K, Ferreira CR, Atwal PS, Jain M, Hammers A, Charles-Edwards G, Choe CU, Isbrandt D, Cebrian-Serrano A, Davies B, Sandford RN, Pugh C, Konecki DS, Povey S, Bockenhauer D, Lichter-Konecki U, Gahl WA, Unwin RJ, Warth R, Kleta R

Title

Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure.

Journal

J Am Soc Nephrol 29:1849-1858 (2018)
DOI:10.1681/ASN.2017111179

Reference

PMID:20335586 (FRTS2)

Authors

Magen D, Berger L, Coady MJ, Ilivitzki A, Militianu D, Tieder M, Selig S, Lapointe JY, Zelikovic I, Skorecki K

Title

A loss-of-function mutation in NaPi-IIa and renal Fanconi's syndrome.

Journal

N Engl J Med 362:1102-9 (2010)
DOI:10.1056/NEJMoa0905647

Reference

PMID:24401050 (FRTS3)

Authors

Klootwijk ED, Reichold M, Helip-Wooley A, Tolaymat A, Broeker C, Robinette SL, Reinders J, Peindl D, Renner K, Eberhart K, Assmann N, Oefner PJ, Dettmer K, Sterner C, Schroeder J, Zorger N, Witzgall R, Reinhold SW, Stanescu HC, Bockenhauer D, Jaureguiberry G, Courtneidge H, Hall AM, Wijeyesekera AD, Holmes E, Nicholson JK, O'Brien K, Bernardini I, Krasnewich DM, Arcos-Burgos M, Izumi Y, Nonoguchi H, Jia Y, Reddy JK, Ilyas M, Unwin RJ, Gahl WA, Warth R, Kleta R

Title

Mistargeting of peroxisomal EHHADH and inherited renal Fanconi's syndrome.

Journal

N Engl J Med 370:129-38 (2014)
DOI:10.1056/NEJMoa1307581

Reference

PMID:24285859 (FRTS4)

Authors

Hamilton AJ, Bingham C, McDonald TJ, Cook PR, Caswell RC, Weedon MN, Oram RA, Shields BM, Shepherd M, Inward CD, Hamilton-Shield JP, Kohlhase J, Ellard S, Hattersley AT

Title

The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a beta cell phenotype.

Journal

J Med Genet 51:165-9 (2014)
DOI:10.1136/jmedgenet-2013-102066

Reference

PMID:27466185 (FRTS5)

Authors

Hartmannova H, Piherova L, Tauchmannova K, Kidd K, Acott PD, Crocker JF, Oussedik Y, Mallet M, Hodanova K, Stranecky V, Pristoupilova A, Baresova V, Jedlickova I, Zivna M, Sovova J, Hulkova H, Robins V, Vrbacky M, Pecina P, Kaplanova V, Houstek J, Mracek T, Thibeault Y, Bleyer AJ, Kmoch S

Title

Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6.

Journal

Hum Mol Genet 25:4062-4079 (2016)
DOI:10.1093/hmg/ddw245

LinkDB

» Japanese version

DISEASE: Hypercalcemia infantile

Entry

H01371                      Disease

Name

Hypercalcemia infantile;
Idiopathic infantile hypercalcemia

Description

Idiopathic infantile hypercalcemia is autosomal recessive disorder that is characterized by severe hypercalcemia, failure to thrive, vomiting, dehydration, and nephrocalcinosis. It has been reported that mutations in the vitamin D-metabolizing enzyme CYP24A1 cause this disease. The presence of CYP24A1 mutations explains the increased sensitivity to vitamin D in patients with idiopathic infantile hypercalcemia.