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Autosomal dominant inheritance

MedGen UID:
141047
Concept ID:
C0443147
Genetic Function; Intellectual Product
Synonyms: Autosomal dominant; Autosomal Dominant
SNOMED CT: Autosomal dominant inheritance (263681008); Autosomal dominant (263681008); AD - Autosomal dominant (263681008)
 
HPO: HP:0000006
Orphanet: ORPHA409929

Definition

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. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAutosomal dominant inheritance

Professional guidelines

PubMed

Statland JM, Fontaine B, Hanna MG, Johnson NE, Kissel JT, Sansone VA, Shieh PB, Tawil RN, Trivedi J, Cannon SC, Griggs RC
Muscle Nerve 2018 Apr;57(4):522-530. Epub 2017 Nov 29 doi: 10.1002/mus.26009. PMID: 29125635Free PMC Article
Chan WH, Biswas S, Ashworth JL, Lloyd IC
Eur J Pediatr 2012 Apr;171(4):625-30. Epub 2012 Mar 1 doi: 10.1007/s00431-012-1700-1. PMID: 22383071
Turnpenny PD, Ellard S
Eur J Hum Genet 2012 Mar;20(3):251-7. Epub 2011 Sep 21 doi: 10.1038/ejhg.2011.181. PMID: 21934706Free PMC Article

Recent systematic reviews

Taghizadeh Waghefi A, Petrov A, Wilbring M, Fajfrova Z, Fitze G, Matschke K, Kappert U
Medicina (Kaunas) 2022 Nov 30;58(12) doi: 10.3390/medicina58121774. PMID: 36556976Free PMC Article
Sharma A, Bosman LP, Tichnell C, Nanavati J, Murray B, Nonyane BAS, Tandri H, Calkins H, James CA
Circ Genom Precis Med 2022 Jun;15(3):e003530. Epub 2022 May 17 doi: 10.1161/CIRCGEN.121.003530. PMID: 35579515
Berciano J, García A, Gallardo E, Peeters K, Pelayo-Negro AL, Álvarez-Paradelo S, Gazulla J, Martínez-Tames M, Infante J, Jordanova A
J Neurol 2017 Aug;264(8):1655-1677. Epub 2017 Mar 31 doi: 10.1007/s00415-017-8474-3. PMID: 28364294
Burcharth J, Pommergaard HC, Rosenberg J
Hernia 2013 Apr;17(2):183-9. Epub 2013 Feb 20 doi: 10.1007/s10029-013-1060-4. PMID: 23423330
Acke FR, Dhooge IJ, Malfait F, De Leenheer EM
Orphanet J Rare Dis 2012 Oct 30;7:84. doi: 10.1186/1750-1172-7-84. PMID: 23110709Free PMC Article

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