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Dilated cardiomyopathy 1CC(CMD1CC)

MedGen UID:
413929
Concept ID:
C2751084
Disease or Syndrome
Synonyms: CMD1CC; NEXN-Related Dilated Cardiomyopathy
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM
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.
 
Gene (location): NEXN (1p31.1)
 
Monarch Initiative: MONDO:0013147
OMIM®: 613122

Definition

Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the NEXN gene. [from MONDO]

Clinical features

From HPO
Primary dilated cardiomyopathy
MedGen UID:
2880
Concept ID:
C0007193
Disease or Syndrome
Familial dilated cardiomyopathy is a genetic form of heart disease. It occurs when heart (cardiac) muscle becomes thin and weakened in at least one chamber of the heart, causing the open area of the chamber to become enlarged (dilated). As a result, the heart is unable to pump blood as efficiently as usual. To compensate, the heart attempts to increase the amount of blood being pumped through the heart, leading to further thinning and weakening of the cardiac muscle. Over time, this condition results in heart failure.\n\nIt usually takes many years for symptoms of familial dilated cardiomyopathy to cause health problems. They typically begin in mid-adulthood, but can occur at any time from infancy to late adulthood. Signs and symptoms of familial dilated cardiomyopathy can include an irregular heartbeat (arrhythmia), shortness of breath (dyspnea), extreme tiredness (fatigue), fainting episodes (syncope), and swelling of the legs and feet. In some cases, the first sign of the disorder is sudden cardiac death. The severity of the condition varies among affected individuals, even in members of the same family.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Prognosis

Krug D, Blanck O, Demming T, Dottermusch M, Koch K, Hirt M, Kotzott L, Zaman A, Eidinger L, Siebert FA, Dunst J, Bonnemeier H
Strahlenther Onkol 2020 Jan;196(1):23-30. Epub 2019 Oct 31 doi: 10.1007/s00066-019-01530-w. PMID: 31673718

Clinical prediction guides

Krug D, Blanck O, Demming T, Dottermusch M, Koch K, Hirt M, Kotzott L, Zaman A, Eidinger L, Siebert FA, Dunst J, Bonnemeier H
Strahlenther Onkol 2020 Jan;196(1):23-30. Epub 2019 Oct 31 doi: 10.1007/s00066-019-01530-w. PMID: 31673718

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