Phenotypes associated with the disease arrhythmogenic cardiomyopathy with variable ectodermal abnormalities (OMIM:620519):
- Corneal opacity (HP:0007957): A reduction of corneal clarity. Evidence: PCS. Frequency: 1/7. (PMID:35933355;PMID:35924320;PMID:28069640)
- Left ventricular systolic dysfunction (HP:0025169): Abnormality of left ventricular contraction, often defined operationally as an ejection fraction of less than 40 percent. Evidence: PCS. Frequency: 12/13. (PMID:32666529;PMID:35933355;PMID:35924320;PMID:28069640)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 6/13. (PMID:32666529;PMID:35933355;PMID:28069640)
- Cleft lip (HP:0410030): A gap in the lip or lips. Evidence: PCS. Frequency: 2/11. (PMID:32666529;PMID:35933355;PMID:35924320;PMID:28069640)
- Right atrial enlargement (HP:0030718): Increase in size of the right atrium. Evidence: PCS. Frequency: 1/6. (PMID:35924320;PMID:28069640)
- Motor delay (HP:0001270): A type of Developmental delay characterized by a delay in acquiring motor skills. Evidence: PCS. Frequency: 5/11. (PMID:32666529;PMID:35933355;PMID:35924320;PMID:28069640)
- Dry hair (HP:0011359): Hair that lacks the luster (shine or gleam) of normal hair. Evidence: PCS. Frequency: 3/4. (PMID:35933355;PMID:28069640)
- Ventricular septal defect (HP:0001629): A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum. Evidence: PCS. Frequency: 2/14. (PMID:32666529;PMID:35933355;PMID:35924320;PMID:28069640)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: PCS. Frequency: 4/7. (PMID:35933355;PMID:35924320;PMID:28069640)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 7/13. (PMID:32666529;PMID:35924320;PMID:28069640)
- Onycholysis (HP:0001806): Detachment of the nail from the nail bed. Evidence: PCS. Frequency: 1/13. (PMID:32666529;PMID:35933355;PMID:28069640)
- Bicuspid aortic valve (HP:0001647): The presence of an aortic valve with two instead of the normal three cusps (flaps). Bicuspid aortic valvue is a malformation of a commissure (small space between the attachment of each cusp to the aortic wall) and the adjacent parts of the two corresponding cusps forming a raphe (the fused area of the two underdeveloped cusps turning into a malformed commissure between both cusps; the raphe is a fibrous ridge that extends from the commissure to the free edge of the two underdeveloped, conjoint cusps). Evidence: PCS. Frequency: 1/14. (PMID:32666529;PMID:35933355;PMID:35924320;PMID:28069640)
- Ventricular tachycardia (HP:0004756): A tachycardia originating in the ventricles characterized by rapid heart rate (over 100 beats per minute) and broad QRS complexes (over 120 ms). Evidence: PCS. Frequency: 2/13. (PMID:32666529;PMID:35933355;PMID:35924320;PMID:28069640)
- Intellectual disability (HP:0001249): The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence. Evidence: PCS. Frequency: 1/13. (PMID:32666529;PMID:35933355;PMID:35924320;PMID:28069640)
- Dilated cardiomyopathy (HP:0001644): Dilated cardiomyopathy (DCM) is defined by the presence of left ventricular dilatation and left ventricular systolic dysfunction in the absence of abnormal loading conditions (hypertension, valve disease) or coronary artery disease sufficient to cause global systolic impairment. Right ventricular dilation and dysfunction may be present but are not necessary for the diagnosis. Evidence: PCS. Frequency: 14/14. (PMID:32666529;PMID:35933355;PMID:35924320;PMID:28069640)
- Polyhydramnios (HP:0001561): The presence of excess amniotic fluid in the uterus during pregnancy. Evidence: PCS. Frequency: 1/8. (PMID:32666529;PMID:35933355)
- Myofiber disarray (HP:0031318): A nonparallel arrangement of cardiac myocytes. Evidence: PCS. Frequency: 1/2. (PMID:35924320;PMID:28069640)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 1/7. (PMID:32666529)
- Myocardial fibrosis (HP:0001685): Myocardial fibrosis is characterized by dysregulated collagen turnover (increased synthesis predominates over unchanged or decreased degradation) and excessive diffuse collagen accumulation in the interstitial and perivascular spaces as well as by phenotypically transformed fibroblasts, termed myofibroblasts. Evidence: PCS. Frequency: 1/2. (PMID:35924320;PMID:28069640)
- Ventricular bigeminy (HP:0034306): An electrocardiographic finding of a normal QRS followed by a premature ventricular contraction; a rhythmic pairing of normal and atypical beats originating in the ventricles in a 1-1 ratio such that an ectopic ventricular beat follows each regular heartbeat. Evidence: PCS. Frequency: 3/14. (PMID:32666529;PMID:35933355;PMID:35924320;PMID:28069640)
- Depressed nasal bridge (HP:0005280): Posterior positioning of the nasal root in relation to the overall facial profile for age. Evidence: PCS. Frequency: 3/11. (PMID:32666529;PMID:35933355;PMID:35924320;PMID:28069640)
- Tricuspid regurgitation (HP:0005180): Failure of the tricuspid valve to close sufficiently upon contraction of the right ventricle, causing blood to regurgitate (flow backward) into the right atrium. Evidence: PCS. Frequency: 4/13. (PMID:32666529;PMID:35933355;PMID:35924320;PMID:28069640)
- Notched primary central incisor (HP:0012413): The presence of a V-shaped indentation (notch) in the primary central incisor. Evidence: PCS. Frequency: 1/1. (PMID:35924320)
- Woolly scalp hair (HP:0040149): The presence of wooly hair on the scalp. The term wooly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter. Evidence: PCS. Frequency: 4/11. (PMID:32666529;PMID:35933355;PMID:28069640)
- High anterior hairline (HP:0009890): Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD above the mean. Alternatively, an apparently increased distance between the hairline and the glabella. Evidence: PCS. Frequency: 4/11. (PMID:32666529;PMID:35933355;PMID:35924320;PMID:28069640)
- Ichthyosis (HP:0008064): An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization. Evidence: PCS. Frequency: 2/12. (PMID:32666529;PMID:35933355;PMID:35924320;PMID:28069640)
- Sparse scalp hair (HP:0002209): Decreased number of hairs per unit area of skin of the scalp. Evidence: PCS. Frequency: 6/12. (PMID:32666529;PMID:35933355;PMID:35924320;PMID:28069640)
- Autosomal recessive inheritance (HP:0000007): 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:28069640)
- Pruritus (HP:0000989): Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus. Evidence: PCS. Frequency: 1/12. (PMID:32666529;PMID:35933355;PMID:35924320;PMID:28069640)
- Coarse hair (HP:0002208): Hair shafts are rough in texture. Evidence: PCS. Frequency: 1/2. (PMID:35933355;PMID:35924320)
- Pericardial effusion (HP:0001698): Accumulation of fluid within the pericardium. Evidence: PCS. Frequency: 2/14. (PMID:32666529;PMID:35933355;PMID:35924320;PMID:28069640)
- Nail dystrophy (HP:0008404): Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate. Evidence: PCS. Frequency: 2/11. (PMID:32666529;PMID:35933355;PMID:35924320;PMID:28069640)
- Mitral regurgitation (HP:0001653): An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction. Evidence: PCS. Frequency: 4/13. (PMID:32666529;PMID:35933355;PMID:35924320;PMID:28069640)
- Palmoplantar keratoderma (HP:0000982): Abnormal thickening of the skin of the palms of the hands and the soles of the feet. Evidence: PCS. Frequency: 0/12. (PMID:32666529;PMID:35933355;PMID:35924320;PMID:28069640)
- Patent foramen ovale (HP:0001655): Failure of the foramen ovale to seal postnatally, leaving a potential conduit between the left and right cardiac atria. Evidence: PCS. Frequency: 1/14. (PMID:32666529;PMID:35933355;PMID:35924320;PMID:28069640)