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Laterality defects, autosomal dominant

MedGen UID:
322042
•Concept ID:
C1832813
•
Disease or Syndrome
Synonym: Laterality defects dominant
 
Monarch Initiative: MONDO:0010991
OMIM®: 601086

Clinical features

From HPO
Situs inversus
MedGen UID:
1642262
•Concept ID:
C4551493
•
Congenital Abnormality
A left-right reversal (or "mirror reflection") of the anatomical location of the major thoracic and abdominal organs.
See: Feature record | Search on this feature
Growth abnormality
MedGen UID:
808205
•Concept ID:
C0262361
•
Finding
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Heterotaxy
MedGen UID:
75620
•Concept ID:
C0266642
•
Congenital Abnormality
An abnormality in which the internal thoraco-abdominal organs demonstrate abnormal arrangement across the left-right axis of the body.
See: Feature record | Search on this feature
Asplenia
MedGen UID:
108652
•Concept ID:
C0600031
•
Congenital Abnormality
Absence (aplasia) of the spleen.
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Recent clinical studies

Diagnosis

Discrepancy in blood pressure between the left and right arms - importance of clinical diagnosis and role of radiological imaging.
Kuan PX, Tan PW, Jobli AT, Norsila AR
Med J Malaysia 2016 Aug;71(4):206-208. PMID: 27770122

Prognosis

Genetic architecture of laterality defects revealed by whole exome sequencing.
Li AH, Hanchard NA, Azamian M, D'Alessandro LCA, Coban-Akdemir Z, Lopez KN, Hall NJ, Dickerson H, Nicosia A, Fernbach S, Boone PM, Gambin T, Karaca E, Gu S, Yuan B, Jhangiani SN, Doddapaneni H, Hu J, Dinh H, Jayaseelan J, Muzny D, Lalani S, Towbin J, Penny D, Fraser C, Martin J, Lupski JR, Gibbs RA, Boerwinkle E, Ware SM, Belmont JW
Eur J Hum Genet 2019 Apr;27(4):563-573. Epub 2019 Jan 8 doi: 10.1038/s41431-018-0307-z. PMID: 30622330Free PMC Article

Clinical prediction guides

Genetic architecture of laterality defects revealed by whole exome sequencing.
Li AH, Hanchard NA, Azamian M, D'Alessandro LCA, Coban-Akdemir Z, Lopez KN, Hall NJ, Dickerson H, Nicosia A, Fernbach S, Boone PM, Gambin T, Karaca E, Gu S, Yuan B, Jhangiani SN, Doddapaneni H, Hu J, Dinh H, Jayaseelan J, Muzny D, Lalani S, Towbin J, Penny D, Fraser C, Martin J, Lupski JR, Gibbs RA, Boerwinkle E, Ware SM, Belmont JW
Eur J Hum Genet 2019 Apr;27(4):563-573. Epub 2019 Jan 8 doi: 10.1038/s41431-018-0307-z. PMID: 30622330Free PMC Article

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