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Singleton-Merten syndrome

MedGen UID:
98481
Concept ID:
C0432254
Disease or Syndrome
Synonyms: SM syndrome
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Singleton-Merten syndrome (254114000)
 
OMIM® Phenotypic series: PS182250
Orphanet: ORPHA85191

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSingleton-Merten syndrome
Follow this link to review classifications for Singleton-Merten syndrome in Orphanet.

Recent clinical studies

Etiology

Nitschke Y, Rutsch F
Curr Osteoporos Rep 2017 Aug;15(4):255-270. doi: 10.1007/s11914-017-0370-3. PMID: 28585220
Volpi S, Picco P, Caorsi R, Candotti F, Gattorno M
Pediatr Rheumatol Online J 2016 Jun 4;14(1):35. doi: 10.1186/s12969-016-0094-4. PMID: 27260006Free PMC Article
Rodriguez R, Hartmann N, Figgener L, Kleinheinz J, Weingart D
J Prosthodont Res 2015 Jul;59(3):199-204. Epub 2015 Jun 2 doi: 10.1016/j.jpor.2015.03.003. PMID: 26043888

Diagnosis

Volpi S, Picco P, Caorsi R, Candotti F, Gattorno M
Pediatr Rheumatol Online J 2016 Jun 4;14(1):35. doi: 10.1186/s12969-016-0094-4. PMID: 27260006Free PMC Article
Feigenbaum A, Müller C, Yale C, Kleinheinz J, Jezewski P, Kehl HG, MacDougall M, Rutsch F, Hennekam RC
Am J Med Genet A 2013 Feb;161A(2):360-70. Epub 2013 Jan 15 doi: 10.1002/ajmg.a.35732. PMID: 23322711
Valverde I, Rosenthal E, Tzifa A, Desai P, Bell A, Pushparajah K, Qureshi S, Beerbaum P, Simpson J
J Am Coll Cardiol 2010 Nov 16;56(21):1760. doi: 10.1016/j.jacc.2010.02.078. PMID: 21070929

Prognosis

Rodriguez R, Hartmann N, Figgener L, Kleinheinz J, Weingart D
J Prosthodont Res 2015 Jul;59(3):199-204. Epub 2015 Jun 2 doi: 10.1016/j.jpor.2015.03.003. PMID: 26043888
Jang MA, Kim EK, Now H, Nguyen NT, Kim WJ, Yoo JY, Lee J, Jeong YM, Kim CH, Kim OH, Sohn S, Nam SH, Hong Y, Lee YS, Chang SA, Jang SY, Kim JW, Lee MS, Lim SY, Sung KS, Park KT, Kim BJ, Lee JH, Kim DK, Kee C, Ki CS
Am J Hum Genet 2015 Feb 5;96(2):266-74. Epub 2015 Jan 22 doi: 10.1016/j.ajhg.2014.11.019. PMID: 25620203Free PMC Article
Ozyuksel A, Ersoy C, Canturk E, Akcevin A
BMJ Case Rep 2014 Sep 5;2014 doi: 10.1136/bcr-2014-205985. PMID: 25193816Free PMC Article

Clinical prediction guides

Volpi S, Picco P, Caorsi R, Candotti F, Gattorno M
Pediatr Rheumatol Online J 2016 Jun 4;14(1):35. doi: 10.1186/s12969-016-0094-4. PMID: 27260006Free PMC Article
Jang MA, Kim EK, Now H, Nguyen NT, Kim WJ, Yoo JY, Lee J, Jeong YM, Kim CH, Kim OH, Sohn S, Nam SH, Hong Y, Lee YS, Chang SA, Jang SY, Kim JW, Lee MS, Lim SY, Sung KS, Park KT, Kim BJ, Lee JH, Kim DK, Kee C, Ki CS
Am J Hum Genet 2015 Feb 5;96(2):266-74. Epub 2015 Jan 22 doi: 10.1016/j.ajhg.2014.11.019. PMID: 25620203Free PMC Article

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