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Hypotonia-cystinuria syndrome

MedGen UID:
341133
Concept ID:
C1848030
Disease or Syndrome
Synonyms: CYSTINURIA WITH MITOCHONDRIAL DISEASE; HOMOZYGOUS 2p16 DELETION SYNDROME; HOMOZYGOUS 2p21 DELETION SYNDROME
SNOMED CT: Hypotonia cystinuria syndrome (721173005)
Modes of inheritance:
 
Monarch Initiative: MONDO:0011669
OMIM®: 606407
Orphanet: ORPHA163690

Definition

A rare, genetic disorder of amino acid absorption and transport, characterized by generalized hypotonia at birth, neonatal/infantile failure to thrive (followed by hyperphagia and rapid weight gain in late childhood), cystinuria type 1, nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism. Dysmorphic features mainly include dolichocephaly and ptosis. Nephrolithiasis occurs at variable ages. [from ORDO]

Clinical features

From HPO

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHypotonia-cystinuria syndrome

Professional guidelines

PubMed

Piñero-Fernández JA, Vicente-Calderón C, Lorente-Sánchez MJ, Juan-Fita MJ, Egea-Mellado JM, González-Gallego IC
Pediatr Nephrol 2023 May;38(5):1513-1521. Epub 2022 Oct 13 doi: 10.1007/s00467-022-05732-w. PMID: 36227436

Curated

Eggermann T, Zerres K, Nunes V, Font-Llitjós M, Bisceglia L, Chatzikyriakidou A, dello Strologo L, Pras E, Creemers J, Palacin M
Eur J Hum Genet 2012 Feb;20(2) Epub 2011 Aug 24 doi: 10.1038/ejhg.2011.163. PMID: 21863055Free PMC Article

Recent clinical studies

Etiology

Fuchs F, Rodriguez A, Mousty E, Morin D, Roubertie A, Wells CF, Prodhomme O, Benoist JF, Dreux S, Faure JM, Willems M
Prenat Diagn 2024 Jan;44(1):28-34. Epub 2023 Dec 6 doi: 10.1002/pd.6475. PMID: 38054546
Piñero-Fernández JA, Vicente-Calderón C, Lorente-Sánchez MJ, Juan-Fita MJ, Egea-Mellado JM, González-Gallego IC
Pediatr Nephrol 2023 May;38(5):1513-1521. Epub 2022 Oct 13 doi: 10.1007/s00467-022-05732-w. PMID: 36227436
Eggermann T, Venghaus A, Zerres K
Orphanet J Rare Dis 2012 Apr 5;7:19. doi: 10.1186/1750-1172-7-19. PMID: 22480232Free PMC Article

Diagnosis

Fuchs F, Rodriguez A, Mousty E, Morin D, Roubertie A, Wells CF, Prodhomme O, Benoist JF, Dreux S, Faure JM, Willems M
Prenat Diagn 2024 Jan;44(1):28-34. Epub 2023 Dec 6 doi: 10.1002/pd.6475. PMID: 38054546
Piñero-Fernández JA, Vicente-Calderón C, Lorente-Sánchez MJ, Juan-Fita MJ, Egea-Mellado JM, González-Gallego IC
Pediatr Nephrol 2023 May;38(5):1513-1521. Epub 2022 Oct 13 doi: 10.1007/s00467-022-05732-w. PMID: 36227436
Towheed A, Hietanen CL, Kamath VG, Singh LN, Ho A, Engelstad K, Cornett K, Montes J, De Vivo D
Ann Clin Transl Neurol 2021 Nov;8(11):2199-2204. Epub 2021 Oct 6 doi: 10.1002/acn3.51464. PMID: 34612606Free PMC Article
Régal L, Mårtensson E, Maystadt I, Voermans N, Lederer D, Burlina A, Juan Fita MJ, Hoogeboom AJM, Olsson Engman M, Hollemans T, Schouten M, Meulemans S, Jonson T, François I, Gil Ortega D, Kamsteeg EJ, Creemers JWM
Genet Med 2018 Jan;20(1):109-118. Epub 2017 Jul 20 doi: 10.1038/gim.2017.74. PMID: 28726805
Eggermann T, Spengler S, Venghaus A, Denecke B, Zerres K, Baudis M, Ensenauer R
Eur J Med Genet 2012 Oct;55(10):561-3. Epub 2012 Jul 17 doi: 10.1016/j.ejmg.2012.06.008. PMID: 22766003

Therapy

Martens K, Heulens I, Meulemans S, Zaffanello M, Tilstra D, Hes FJ, Rooman R, François I, de Zegher F, Jaeken J, Matthijs G, Creemers JW
Eur J Hum Genet 2007 Oct;15(10):1029-33. Epub 2007 Jun 20 doi: 10.1038/sj.ejhg.5201881. PMID: 17579669

Prognosis

Fuchs F, Rodriguez A, Mousty E, Morin D, Roubertie A, Wells CF, Prodhomme O, Benoist JF, Dreux S, Faure JM, Willems M
Prenat Diagn 2024 Jan;44(1):28-34. Epub 2023 Dec 6 doi: 10.1002/pd.6475. PMID: 38054546
Eggermann T, Spengler S, Venghaus A, Denecke B, Zerres K, Baudis M, Ensenauer R
Eur J Med Genet 2012 Oct;55(10):561-3. Epub 2012 Jul 17 doi: 10.1016/j.ejmg.2012.06.008. PMID: 22766003
Jaeken J, Martens K, Francois I, Eyskens F, Lecointre C, Derua R, Meulemans S, Slootstra JW, Waelkens E, de Zegher F, Creemers JW, Matthijs G
Am J Hum Genet 2006 Jan;78(1):38-51. Epub 2005 Nov 23 doi: 10.1086/498852. PMID: 16385448Free PMC Article

Clinical prediction guides

Morawski M, Nuytens K, Juhasz T, Zeitschel U, Seeger G, Waelkens E, Regal L, Schulz I, Arendt T, Szeltner Z, Creemers J, Rossner S
Neuroscience 2013 Jul 9;242:128-39. Epub 2013 Feb 26 doi: 10.1016/j.neuroscience.2013.02.038. PMID: 23485813
Martens K, Jaeken J, Matthijs G, Creemers JW
Curr Mol Med 2008 Sep;8(6):544-50. doi: 10.2174/156652408785747997. PMID: 18781961
Jaeken J, Martens K, Francois I, Eyskens F, Lecointre C, Derua R, Meulemans S, Slootstra JW, Waelkens E, de Zegher F, Creemers JW, Matthijs G
Am J Hum Genet 2006 Jan;78(1):38-51. Epub 2005 Nov 23 doi: 10.1086/498852. PMID: 16385448Free PMC Article

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