Phenotypes associated with the disease arterial calcification, generalized, of infancy, 1 (OMIM:208000):
- Generalized arterial calcification (HP:0004940): Calcification, that is, pathological deposition of calcium salts, affecting arteries distributed throughout the body. Evidence: PCS. Frequency: 2/2. (PMID:15940697)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 2/2. (PMID:15940697)
- Short stature (HP:0004322): A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:208000)
- Cardiomegaly (HP:0001640): Increased size of the heart, clinically defined as an increased transverse diameter of the cardiac silhouette that is greater than or equal to 50% of the transverse diameter of the chest (increased cardiothoracic ratio) on a posterior-anterior projection of a chest radiograph or a computed tomography. Evidence: PCS. Frequency: 2/2. (PMID:15940697)
- Periarticular calcification (HP:0025477): Calcified deposits in soft tissue structures outside a joint. Evidence: PCS. Frequency: 1/1. (PMID:11159191)
- Ankylosis (HP:0031013): A reduction of joint mobility resulting from changes involving the articular surfaces. Evidence: IEA. (OMIM:208000)
- Abdominal aortic calcification (HP:0031313): An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in abdominal aorta. Evidence: PCS. Frequency: 2/2. (PMID:15940697)
- Carotid artery calcification (HP:0031314): An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in a carotid artery. Evidence: PCS. Frequency: 2/2. (PMID:15940697)
- Arterial stenosis (HP:0100545): Narrowing or constriction of the inner surface (lumen) of an artery. Evidence: PCS. (PMID:15940697)
- Coronary artery calcification (HP:0001717): An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in a coronary artery. Evidence: IEA. (OMIM:208000)
- Growth abnormality (HP:0001507). Evidence: IEA. (OMIM:208000)
- Myocardial infarction (HP:0001658): Necrosis of the myocardium caused by an obstruction of the blood supply to the heart and often associated with chest pain, shortness of breath, palpitations, and anxiety as well as characteristic EKG findings and elevation of serum markers including creatine kinase-MB fraction and troponin. Evidence: IEA. (OMIM:208000)
- Hypertension (HP:0000822): The presence of chronic increased pressure in the systemic arterial system. Evidence: PCS. Frequency: 1/2. (PMID:15940697)
- Congestive heart failure (HP:0001635): The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction. Evidence: PCS. Frequency: 1/1. Onset: Neonatal onset (HP:0003623). (PMID:11159191)
- Congestive heart failure (HP:0001635): The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction. Evidence: PCS. Frequency: 1/2. (PMID:15940697)
- 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:11159191)
- Fetal distress (HP:0025116): An intrauterine state characterized by suboptimal values in the fetal heart rate, oxygenation of fetal blood, or other parameters indicative of compromise of the fetus. Signs of fetal distress include repetitive variable decelerations, fetal tachycardia or bradycardia, late decelerations, or low biophysical profile. Evidence: PCS. Frequency: 1/1. (PMID:11159191)
- Hypophosphatemic rickets (HP:0004912). Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:208000)
- Renal artery stenosis (HP:0001920): The presence of stenosis of the renal artery. Evidence: PCS. Frequency: 1/1. Onset: Infantile onset (HP:0003593). (PMID:11159191)
- Neonatal respiratory distress (HP:0002643): Respiratory difficulty as newborn. Evidence: PCS. Frequency: 1/2. (PMID:15940697)
- Neonatal onset (HP:0003623): Onset of signs or symptoms of disease within the first 28 days of life. Evidence: PCS. Frequency: 1/1. (PMID:11159191)
- 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: 1/1. Onset: Neonatal onset (HP:0003623). (PMID:11159191)