Phenotypes associated with the disease Autosomal semi-dominant severe lipodystrophic laminopathy (ORPHA:280365):
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:280365)
- Narrow nasal ridge (HP:0000418): Decreased width of the nasal ridge. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:280365)
- Diabetes mellitus (HP:0000819): A group of abnormalities characterized by hyperglycemia and glucose intolerance. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:280365)
- Insulin resistance (HP:0000855): Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood glucose levels. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:280365)
- Xanthomatosis (HP:0000991): The presence of multiple xanthomas (xanthomata) in the skin. Xanthomas are yellowish, firm, lipid-laden nodules in the skin. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:280365)
- Hypertriglyceridemia (HP:0002155): An abnormal increase in the level of triglycerides in the blood. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:280365)
- Premature graying of hair (HP:0002216): Development of gray hair at a younger than normal age. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:280365)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:280365)
- Skeletal muscle hypertrophy (HP:0003712): Abnormal increase in muscle size and mass not due to training. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:280365)
- Minimal subcutaneous fat (HP:0003717). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:280365)
- Reduced subcutaneous adipose tissue (HP:0003758): A reduced amount of fat tissue in the lowest layer of the integument. This feature can be appreciated by a reduced skinfold thickness. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:280365)
- Progeroid facial appearance (HP:0005328): A degree of wrinkling of the facial skin that is more than expected for the age of the individual, leading to a prematurely aged appearance. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:280365)
- Aplasia/Hypoplasia of the skin (HP:0008065). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:280365)
- Lipodystrophy (HP:0009125): Degenerative changes of the fat tissue. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:280365)
- Lipoatrophy (HP:0100578): Localized loss of fat tissue. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:280365)
- Polycystic ovaries (HP:0000147). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:280365)
- Increased facial adipose tissue (HP:0000287): An increased amount of subcutaneous fat tissue in the face. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:280365)
- Round face (HP:0000311): The facial appearance is more circular than usual as viewed from the front. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:280365)
- Increased adipose tissue around the neck (HP:0000468): An increased amount of subcutaneous fat tissue around the neck. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:280365)
- Secondary amenorrhea (HP:0000869). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:280365)
- Acanthosis nigricans (HP:0000956): A dermatosis characterized by thickened, hyperpigmented plaques, typically on the intertriginous surfaces and neck. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:280365)
- Thin skin (HP:0000963): Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:280365)
- Hepatic steatosis (HP:0001397): Steatosis is a term used to denote lipid accumulation within hepatocytes. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:280365)
- Abnormal nail morphology (HP:0001597): Abnormal structure or appearance of the nail. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:280365)
- Acroosteolysis of distal phalanges (feet) (HP:0001870). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:280365)
- Atherosclerosis (HP:0002621): A condition characterized by patchy atheromas or atherosclerotic plaques which develop in the walls of medium-sized and large arteries and can lead to arterial stenosis with reduced or blocked blood flow. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:280365)
- Decreased circulating HDL-C concentration (HP:0003233): The concentration of high-density lipoprotein cholesterol in the blood circulation is below the lower limit of normal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:280365)
- Decreased serum leptin (HP:0003292): A decreased concentration of leptin in the blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:280365)
- Loss of subcutaneous adipose tissue in limbs (HP:0003635): Loss (disappearance) of previously present subcutaneous fat tissue in arm or leg. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:280365)
- Precocious atherosclerosis (HP:0004416). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:280365)
- Accelerated atherosclerosis (HP:0004943): Atherosclerosis which occurs in a person with certain risk factors (e.g., SLE, diabetes, smoking, hypertension, hypercholesterolaemia, family history of early heart disease) at an earlier age than would occur in another person without those risk factors. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:280365)
- Advanced eruption of teeth (HP:0006288): Premature tooth eruption, which can be defined as tooth eruption more than 2 SD earlier than the mean eruption age. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:280365)
- Muscle hypertrophy of the lower extremities (HP:0008968): Muscle hypertrophy primarily affecting the legs. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:280365)
- Increased intraabdominal fat (HP:0008993): An abnormal increase in the amount of intraabdominal fat tissue. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:280365)
- Osteolytic defects of the phalanges of the hand (HP:0009771): Dissolution or degeneration of bone tissue of the phalanges of the hand. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:280365)
- Decreased adiponectin level (HP:0030685): A reduced circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:280365)
- Proximal upper limb muscle hypertrophy (HP:0040266). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:280365)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:280365)
- Hypertrophic cardiomyopathy (HP:0001639): Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:280365)
- Coronary artery atherosclerosis (HP:0001677): Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries, which increases the risk of myocardial ischemia. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:280365)
- Pancreatitis (HP:0001733): The presence of inflammation in the pancreas. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:280365)
- Splenomegaly (HP:0001744): Abnormal increased size of the spleen. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:280365)
- Generalized hirsutism (HP:0002230): Abnormally increased hair growth over much of the entire body. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:280365)
- Myopathy (HP:0003198): A disorder of muscle unrelated to impairment of innervation or neuromuscular junction. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:280365)
- Myalgia (HP:0003326): Pain in muscle. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:280365)
- Supraventricular arrhythmia (HP:0005115): A type of arrhythmia that originates above the ventricles, whereby the electrical impulse propagates down the normal His Purkinje system similar to normal sinus rhythm. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:280365)
- Abnormal atrioventricular conduction (HP:0005150): An impairment of the electrical continuity between the atria and ventricles. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:280365)
- Dysmenorrhea (HP:0100607): Pain during menstruation that interferes with daily activities. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:280365)
- Ventricular arrhythmia (HP:0004308). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:280365)