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Items: 8

1.

Dilated cardiomyopathy 1E

Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the SCN5A gene. [from MONDO]

MedGen UID:
331341
Concept ID:
C1832680
Disease or Syndrome
2.

Dilated cardiomyopathy 1AA

Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ACTN2 gene. [from MONDO]

MedGen UID:
393713
Concept ID:
C2677338
Disease or Syndrome
3.

Hypertrophic cardiomyopathy 10

Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYL2 gene. [from MONDO]

MedGen UID:
331754
Concept ID:
C1834460
Disease or Syndrome
4.

Ogden syndrome

Ogden syndrome (OGDNS) is an X-linked neurodevelopmental disorder characterized by postnatal growth failure, severely delayed psychomotor development, variable dysmorphic features, and hypotonia. Many patients also have cardiac malformations or arrhythmias (summary by Popp et al., 2015). [from OMIM]

MedGen UID:
477078
Concept ID:
C3275447
Disease or Syndrome
5.

Myopathy with abnormal lipid metabolism

Lipid storage myopathy due to FLAD1 deficiency is an autosomal recessive inborn error of metabolism that includes variable mitochondrial dysfunction. The phenotype is extremely heterogeneous: some patients have a severe disorder with onset in infancy and cardiac and respiratory insufficiency resulting in early death, whereas others have a milder course with onset of muscle weakness in adulthood. Some patients show significant improvement with riboflavin treatment (summary by Olsen et al., 2016). [from OMIM]

MedGen UID:
934789
Concept ID:
C4310822
Disease or Syndrome
6.

Atrial fibrillation, familial, 15

Atrial fibrillation (AF) is a supraventricular tachyarrhythmia characterized by uncoordinated atrial activation with consequent deterioration of atrial mechanical function. It is the most common sustained cardiac rhythm disturbance, and its prevalence increases as the population ages. An estimated 70,000 strokes each year are caused by atrial fibrillation (summary by Oberti et al., 2004). For a discussion of genetic heterogeneity of atrial fibrillation, see 608583. [from OMIM]

MedGen UID:
862706
Concept ID:
C4014269
Disease or Syndrome
7.

Scalp-ear-nipple syndrome

Scalp-ear-nipple syndrome is characterized by aplasia cutis congenita of the scalp, breast anomalies that range from hypothelia or athelia to amastia, and minor anomalies of the external ears. Less frequent clinical characteristics include nail dystrophy, dental anomalies, cutaneous syndactyly of the digits, and renal malformations. Penetrance appears to be high, although there is substantial variable expressivity within families (Marneros et al., 2013). [from OMIM]

MedGen UID:
357183
Concept ID:
C1867020
Disease or Syndrome
8.

Supraventricular tachycardia

Supraventricular tachycardia (SVT) is an abnormally increased heart rate (over 100 beats per minute at rest) with origin above the level of the ventricles. [from HPO]

MedGen UID:
52635
Concept ID:
C0039240
Disease or Syndrome
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