| |
Blood | Detected and Quantified | 6900 uM | Newborn (0-30 days old) | Male | Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency | | details | Blood | Detected and Quantified | 7800 uM | Adult (>18 years old) | Female | 21-hydroxylase deficiency | | details | Blood | Detected and Quantified | 7100-9000 uM | Newborn (0-30 days old) | Female | 21-hydroxylase deficiency | | details | Blood | Detected and Quantified | 2600 (2300-2900) uM | Children (1-13 years old) | Both | Bartter Syndrome, Type 3 | | details | Blood | Detected and Quantified | 2700 uM | Infant (0-1 year old) | Female | Apparent mineralocorticoid excess | | details | Blood | Detected and Quantified | 3400 uM | Adolescent (13-18 years old) | Both | Renal tubular acidosis, distal, RTA type 1 | | details | Blood | Detected and Quantified | 1580-4500 uM | Children (1-13 years old) | Both | Renal tubular acidosis, distal, RTA type 1 | | details | Blood | Detected and Quantified | 2100-3200 uM | Infant (0-1 year old) | Both | Renal tubular acidosis, distal, RTA type 1 | | details | Blood | Detected and Quantified | 2200-4500 uM | Newborn (0-30 days old) | Both | Renal tubular acidosis, distal, RTA type 1 | | details | Blood | Detected and Quantified | 3300-4600 uM | Adult (>18 years old) | Both | Renal tubular acidosis, distal, RTA type 1 | | details | Blood | Detected and Quantified | 3700-4300 uM | Adult (>18 years old) | Male | Primary Hypomagnesemia | | details | Blood | Detected and Quantified | 86000-87000 uM | Newborn (0-30 days old) | Female | Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness | | details | Blood | Detected and Quantified | 101000 uM | Infant (0-1 year old) | Female | Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness | | details | Blood | Detected and Quantified | 81000-97000 uM | Children (1-13 years old) | Female | Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness | | details | Blood | Detected and Quantified | 2800 uM | Newborn (0-30 days old) | Male | Donohue Syndrome | | details | Blood | Detected and Quantified | 6900 uM | Infant (0-1 year old) | Female | Lipoid Adrenal Hyperplasia | | details | Blood | Detected and Quantified | 8200 uM | Newborn (0-30 days old) | Not Available | Pseudohypoaldosteronism, type I, autosomal dominant | | details | Blood | Detected and Quantified | 1800-2800 uM | Infant (0-1 year old) | Both | Congenital chloride diarrhea | | details | Blood | Detected and Quantified | 1600 uM | Adult (>18 years old) | Female | Fanconi syndrome | | details | Blood | Detected and Quantified | 1600-3000 uM | Adult (>18 years old) | Both | Gitelman syndrome | | details | Blood | Detected and Quantified | 2900-3150 uM | Adult (>18 years old) | Female | Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SESAMES) | | details | Blood | Detected and Quantified | 2900 (2500-4000) uM | Children (1-13 years old) | Both | Congenital chloride diarrhea | | details | Blood | Detected and Quantified | 4800-5800 uM | Infant (0-1 year old) | Both | Congenital secretory diarrhea | | details | Blood | Detected and Quantified | 5100 uM | Infant (0-1 year old) | Female | Corticosterone methyloxidase I deficiency- CMO I | | details | Blood | Detected and Quantified | 3400 uM | Children (1-13 years old) | Male | Fanconi syndrome | | details | Blood | Detected and Quantified | 3300-3600 uM | Adult (>18 years old) | Male | Glucocorticoid resistance | | details | Blood | Detected and Quantified | 2600-6800 uM | Newborn (0-30 days old) | Female | Bartter Syndrome, Type 2, Antenatal | | details | Blood | Detected and Quantified | 2800 uM | Adolescent (13-18 years old) | Female | Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency | | details | Blood | Detected and Quantified | 2800-3300 uM | Newborn (0-30 days old) | Male | Bartter Syndrome, Type 5, Antenatal, Transient | | details | Blood | Detected and Quantified | 6900 uM | Newborn (0-30 days old) | Female | Lipoid Adrenal Hyperplasia | | details | Blood | Detected and Quantified | 4300-4600 uM | Infant (0-1 year old) | Not Specified | Oculocerebrorenal Syndrome of Lowe | | details | Blood | Detected and Quantified | 3300-4400 uM | Children (1-13 years old) | Not Specified | Oculocerebrorenal Syndrome of Lowe | | details | Blood | Detected and Quantified | 3400-5900 uM | Adolescent (13-18 years old) | Not Specified | Oculocerebrorenal Syndrome of Lowe | | details | Blood | Detected and Quantified | 3200-3800 uM | Adult (>18 years old) | Not Specified | Oculocerebrorenal Syndrome of Lowe | | details | Blood | Detected and Quantified | 2800 uM | Newborn (0-30 days old) | Female | Bartter Syndrome, Type 4A, Neonatal, with Sensorineural Deafness | | details | Blood | Detected and Quantified | 2900-3500 uM | Infant (0-1 year old) | Not Specified | Bartter Syndrome, Type 4A, Neonatal, with Sensorineural Deafness | | details | Blood | Detected and Quantified | 2400-2700 uM | Children (1-13 years old) | Female | Bartter Syndrome, Type 1, Antenatal | | details | Blood | Detected and Quantified | 2000 uM | Adult (>18 years old) | Male | Bartter Syndrome, Type 4A, Neonatal, with Sensorineural Deafness | | details | Blood | Detected and Quantified | 2800-2900 uM | Newborn (0-30 days old) | Female | Bartter Syndrome, Type 1, Antenatal | | details | Blood | Detected and Quantified | 6100 uM | Newborn (0-30 days old) | Female | Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete | | details | Blood | Detected and Quantified | 7100 uM | Newborn (0-30 days old) | Female | Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete | | details | Urine | Detected and Quantified | 2097.278-3273.800 umol/mmol creatinine | Adult (>18 years old) | Male | Primary Hypomagnesemia | | details | Urine | Detected and Quantified | 16180-38180 umol/mmol creatinine | Adult (>18 years old) | Female | Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SESAMES) | | details |
|
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Disease References | Renal tubular acidosis, distal, RTA type 1 |
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- Karet FE, Gainza FJ, Gyory AZ, Unwin RJ, Wrong O, Tanner MJ, Nayir A, Alpay H, Santos F, Hulton SA, Bakkaloglu A, Ozen S, Cunningham MJ, di Pietro A, Walker WG, Lifton RP: Mutations in the chloride-bicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosis. Proc Natl Acad Sci U S A. 1998 May 26;95(11):6337-42. [PubMed:9600966 ]
- G.Frauendienst-Egger, Friedrich K. Trefz (2017). MetaGene: Metabolic & Genetic Information Center (MIC: http://www.metagene.de). METAGENE consortium.
| Primary hypomagnesemia |
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- Jin-no Y, Kamiya Y, Okada M, Hirako M, Takada N, Kawaguchi M: Primary hypomagnesemia caused by isolated magnesium malabsorption: atypical case in adult. Intern Med. 1999 Mar;38(3):261-5. [PubMed:10337938 ]
| Apparent mineralocorticoid excess |
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- New MI, Levine LS, Biglieri EG, Pareira J, Ulick S: Evidence for an unidentified steroid in a child with apparent mineralocorticoid hypertension. J Clin Endocrinol Metab. 1977 May;44(5):924-33. doi: 10.1210/jcem-44-5-924. [PubMed:870517 ]
| 21-Hydroxylase deficiency |
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- Warinner SA, Zimmerman D, Thompson GB, Grant CS: Study of three patients with congenital adrenal hyperplasia treated by bilateral adrenalectomy. World J Surg. 2000 Nov;24(11):1347-52. [PubMed:11038205 ]
| Congenital Adrenal Hyperplasia, due to 17-Hydroxylase-Deficiency |
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- Wong SL, Shu SG, Tsai CR: Seventeen alpha-hydroxylase deficiency. J Formos Med Assoc. 2006 Feb;105(2):177-81. doi: 10.1016/S0929-6646(09)60342-9. [PubMed:16477341 ]
| Bartter Syndrome, Type 4A, Neonatal, with Sensorineural Deafness |
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- Zaffanello M, Taranta A, Palma A, Bettinelli A, Marseglia GL, Emma F: Type IV Bartter syndrome: report of two new cases. Pediatr Nephrol. 2006 Jun;21(6):766-70. doi: 10.1007/s00467-006-0090-x. Epub 2006 Apr 1. [PubMed:16583241 ]
- Heilberg IP, Totoli C, Calado JT: Adult presentation of Bartter syndrome type IV with erythrocytosis. Einstein (Sao Paulo). 2015 Oct-Dec;13(4):604-6. doi: 10.1590/S1679-45082015RC3013. Epub 2015 Oct 30. [PubMed:26537508 ]
| Bartter Syndrome, Type 1, Antenatal |
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- Adachi M, Asakura Y, Sato Y, Tajima T, Nakajima T, Yamamoto T, Fujieda K: Novel SLC12A1 (NKCC2) mutations in two families with Bartter syndrome type 1. Endocr J. 2007 Dec;54(6):1003-7. Epub 2007 Nov 12. [PubMed:17998760 ]
| Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete |
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- Kim CJ, Lin L, Huang N, Quigley CA, AvRuskin TW, Achermann JC, Miller WL: Severe combined adrenal and gonadal deficiency caused by novel mutations in the cholesterol side chain cleavage enzyme, P450scc. J Clin Endocrinol Metab. 2008 Mar;93(3):696-702. doi: 10.1210/jc.2007-2330. Epub 2008 Jan 8. [PubMed:18182448 ]
| Bartter Syndrome, Type 2, Antenatal |
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- Chan WK, To KF, Tong JH, Law CW: Paradoxical hypertension and salt wasting in Type II Bartter syndrome. Clin Kidney J. 2012 Jun;5(3):217-20. doi: 10.1093/ckj/sfs026. Epub 2012 Mar 29. [PubMed:26069767 ]
| Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency |
---|
- Guven A, Polat S: Testicular Adrenal Rest Tumor in Two Brothers with a Novel Mutation in the 3-Beta-Hydroxysteroid Dehydrogenase-2 Gene. J Clin Res Pediatr Endocrinol. 2017 Mar 1;9(1):85-90. doi: 10.4274/jcrpe.3306. Epub 2016 Jul 29. [PubMed:27476613 ]
| Bartter Syndrome, Type 3 |
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- Seys E, Andrini O, Keck M, Mansour-Hendili L, Courand PY, Simian C, Deschenes G, Kwon T, Bertholet-Thomas A, Bobrie G, Borde JS, Bourdat-Michel G, Decramer S, Cailliez M, Krug P, Cozette P, Delbet JD, Dubourg L, Chaveau D, Fila M, Jourde-Chiche N, Knebelmann B, Lavocat MP, Lemoine S, Djeddi D, Llanas B, Louillet F, Merieau E, Mileva M, Mota-Vieira L, Mousson C, Nobili F, Novo R, Roussey-Kesler G, Vrillon I, Walsh SB, Teulon J, Blanchard A, Vargas-Poussou R: Clinical and Genetic Spectrum of Bartter Syndrome Type 3. J Am Soc Nephrol. 2017 Aug;28(8):2540-2552. doi: 10.1681/ASN.2016101057. Epub 2017 Apr 5. [PubMed:28381550 ]
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
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- Nozu K, Inagaki T, Fu XJ, Nozu Y, Kaito H, Kanda K, Sekine T, Igarashi T, Nakanishi K, Yoshikawa N, Iijima K, Matsuo M: Molecular analysis of digenic inheritance in Bartter syndrome with sensorineural deafness. J Med Genet. 2008 Mar;45(3):182-6. doi: 10.1136/jmg.2007.052944. [PubMed:18310267 ]
| Donohue Syndrome |
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- Nijim Y, Awni Y, Adawi A, Bowirrat A: Classic Case Report of Donohue Syndrome (Leprechaunism; OMIM *246200): The Impact of Consanguineous Mating. Medicine (Baltimore). 2016 Feb;95(6):e2710. doi: 10.1097/MD.0000000000002710. [PubMed:26871809 ]
| Lipoid Congenital Adrenal Hyperplasia |
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- Fujieda K, Tajima T, Nakae J, Sageshima S, Tachibana K, Suwa S, Sugawara T, Strauss JF 3rd: Spontaneous puberty in 46,XX subjects with congenital lipoid adrenal hyperplasia. Ovarian steroidogenesis is spared to some extent despite inactivating mutations in the steroidogenic acute regulatory protein (StAR) gene. J Clin Invest. 1997 Mar 15;99(6):1265-71. doi: 10.1172/JCI119284. [PubMed:9077535 ]
- Hauffa BP, Miller WL, Grumbach MM, Conte FA, Kaplan SL: Congenital adrenal hyperplasia due to deficient cholesterol side-chain cleavage activity (20, 22-desmolase) in a patient treated for 18 years. Clin Endocrinol (Oxf). 1985 Nov;23(5):481-93. [PubMed:3841304 ]
| Pseudohypoaldosteronism, type I, autosomal dominant |
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- Bowden SA, Cozzi C, Hickey SE, Thrush DL, Astbury C, Nuthakki S: Autosomal dominant pseudohypoaldosteronism type 1 in an infant with salt wasting crisis associated with urinary tract infection and obstructive uropathy. Case Rep Endocrinol. 2013;2013:524647. doi: 10.1155/2013/524647. Epub 2013 Dec 19. [PubMed:24455331 ]
| Congenital chloride diarrhea |
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- Choi M, Scholl UI, Ji W, Liu T, Tikhonova IR, Zumbo P, Nayir A, Bakkaloglu A, Ozen S, Sanjad S, Nelson-Williams C, Farhi A, Mane S, Lifton RP: Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. Proc Natl Acad Sci U S A. 2009 Nov 10;106(45):19096-101. doi: 10.1073/pnas.0910672106. Epub 2009 Oct 27. [PubMed:19861545 ]
- Lubani MM, Doudin KI, Sharda DC, Shaltout AA, al-Shab TS, Abdul Al YK, Said MA, Salhi MM, Ahmed SA: Congenital chloride diarrhoea in Kuwaiti children. Eur J Pediatr. 1989 Jan;148(4):333-6. [PubMed:2651131 ]
| Fanconi syndrome |
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- Cheng HM, Jap TS, Ho LT: Fanconi syndrome: report of a case. J Formos Med Assoc. 1990 Dec;89(12):1115-7. [PubMed:1982686 ]
- McSherry E, Sebastian A, Morris RC Jr: Renal tubular acidosis in infants: the several kinds, including bicarbonate-wasting, classic renal tubular acidosis. J Clin Invest. 1972 Mar;51(3):499-514. [PubMed:5011097 ]
| Gitelman syndrome |
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- Lin SH, Cheng NL, Hsu YJ, Halperin ML: Intrafamilial phenotype variability in patients with Gitelman syndrome having the same mutations in their thiazide-sensitive sodium/chloride cotransporter. Am J Kidney Dis. 2004 Feb;43(2):304-12. [PubMed:14750096 ]
| Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SESAMES) |
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- Scholl UI, Choi M, Liu T, Ramaekers VT, Hausler MG, Grimmer J, Tobe SW, Farhi A, Nelson-Williams C, Lifton RP: Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10. Proc Natl Acad Sci U S A. 2009 Apr 7;106(14):5842-7. doi: 10.1073/pnas.0901749106. Epub 2009 Mar 16. [PubMed:19289823 ]
| Congenital secretory diarrhea |
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- Muller T, Wijmenga C, Phillips AD, Janecke A, Houwen RH, Fischer H, Ellemunter H, Fruhwirth M, Offner F, Hofer S, Muller W, Booth IW, Heinz-Erian P: Congenital sodium diarrhea is an autosomal recessive disorder of sodium/proton exchange but unrelated to known candidate genes. Gastroenterology. 2000 Dec;119(6):1506-13. [PubMed:11113072 ]
| Corticosterone methyl oxidase I deficiency |
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- Ustyol A, Atabek ME, Taylor N, Yeung MC, Chan AO: Corticosterone Methyl Oxidase Deficiency Type 1 with Normokalemia in an Infant. J Clin Res Pediatr Endocrinol. 2016 Sep 1;8(3):356-9. doi: 10.4274/jcrpe.2824. Epub 2016 Apr 29. [PubMed:27125267 ]
| Glucocorticoid resistance |
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- Donner KM, Hiltunen TP, Janne OA, Sane T, Kontula K: Generalized glucocorticoid resistance caused by a novel two-nucleotide deletion in the hormone-binding domain of the glucocorticoid receptor gene NR3C1. Eur J Endocrinol. 2012 Dec 10;168(1):K9-K18. doi: 10.1530/EJE-12-0532. Print 2013 Jan. [PubMed:23076843 ]
| Bartter Syndrome, Type 5, Antenatal, Transient |
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- Laghmani K, Beck BB, Yang SS, Seaayfan E, Wenzel A, Reusch B, Vitzthum H, Priem D, Demaretz S, Bergmann K, Duin LK, Gobel H, Mache C, Thiele H, Bartram MP, Dombret C, Altmuller J, Nurnberg P, Benzing T, Levtchenko E, Seyberth HW, Klaus G, Yigit G, Lin SH, Timmer A, de Koning TJ, Scherjon SA, Schlingmann KP, Bertrand MJ, Rinschen MM, de Backer O, Konrad M, Komhoff M: Polyhydramnios, Transient Antenatal Bartter's Syndrome, and MAGED2 Mutations. N Engl J Med. 2016 May 12;374(19):1853-63. doi: 10.1056/NEJMoa1507629. Epub 2016 Apr 27. [PubMed:27120771 ]
| Oculocerebrorenal syndrome |
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- Charnas LR, Bernardini I, Rader D, Hoeg JM, Gahl WA: Clinical and laboratory findings in the oculocerebrorenal syndrome of Lowe, with special reference to growth and renal function. N Engl J Med. 1991 May 9;324(19):1318-25. doi: 10.1056/NEJM199105093241904. [PubMed:2017228 ]
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