- Achilles tendon contracture (HP:0001771): A contracture of the Achilles tendon. Evidence: PCS. Frequency: 1/6. (PMID:37303127)
- Premature ovarian insufficiency (HP:0008209): Amenorrhea due to loss of ovarian function before the age of 40. Primary ovarian insuficiency (POI) is a state of female hypergonadotropic hypogonadism. It can manifest as primary amenorrhea with onset before menarche or secondary amenorrhea. Evidence: PCS. Frequency: 1/4. (PMID:37303127)
- 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: PCS. Frequency: 70/119. (PMID:37843397;PMID:37303127;PMID:17250669;PMID:11344241)
- Increased facial adipose tissue (HP:0000287): An increased amount of subcutaneous fat tissue in the face. Evidence: PCS. Frequency: 1/1. (PMID:17250669)
- 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: PCS. Frequency: 1/5. (PMID:37303127;PMID:17250669)
- Myopathy (HP:0003198): A disorder of muscle unrelated to impairment of innervation or neuromuscular junction. Evidence: PCS. Frequency: 5/5. (PMID:17250669;PMID:11344241)
- Hyperglycemia (HP:0003074): An increased concentration of glucose in the blood. Evidence: PCS. Frequency: 8/9. (PMID:37303127;PMID:17250669)
- Generalized lipodystrophy (HP:0009064): Generalized degenerative changes of the fat tissue. Evidence: PCS. Frequency: 6/9. (PMID:37843397;PMID:37303127;PMID:11344241)
- Scleroderma (HP:0100324): A chronic autoimmune phenomenon characterized by fibrosis (or hardening) and vascular alterations of the skin. Evidence: PCS. Frequency: 0/3. (PMID:17250669)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 2/9. (PMID:37303127;PMID:17250669)
- Albuminuria (HP:0012592): Increased concentration of albumin in the urine. Evidence: PCS. Frequency: 3/6. (PMID:37303127)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 2/9. (PMID:37303127;PMID:17250669)
- Acanthosis nigricans (HP:0000956): A dermatosis characterized by thickened, hyperpigmented plaques, typically on the intertriginous surfaces and neck. Evidence: PCS. Frequency: 3/4. (PMID:17250669;PMID:11344241)
- Elevated hemoglobin A1c (HP:0040217): An increased concentration of hemoglobin A1c (HbA1c), which is the product of nonenzymatic attachment of a hexose molecule to the N-terminal amino acid of the hemoglobin molecule. This reaction is dependent on blood glucose concentration, and therefore reflects the mean glucose concentration over the previous 8 to 12 weeks. The HbA1c level provides a better indication of long-term glycemic control than one-time blood or urinary glucose measurements. Evidence: PCS. Frequency: 79/110. (PMID:37843397;PMID:37303127;PMID:17250669;PMID:11344241)
- Muscle weakness (HP:0001324): Reduced strength of muscles. Evidence: PCS. Frequency: 0/4. (PMID:17250669;PMID:11344241)
- Round face (HP:0000311): The facial appearance is more circular than usual as viewed from the front. Evidence: IEA. (OMIM:151660)
- Hirsutism (HP:0001007): Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair). Evidence: IEA. (OMIM:151660)
- Insulin-resistant diabetes mellitus (HP:0000831): A type of diabetes mellitus related not to lack of insulin but rather to lack of response to insulin on the part of the target tissues of insulin such as muscle, fat, and liver cells. This type of diabetes is typically associated with increases both in blood glucose concentrations as well as in fasting and postprandial serum insulin levels. Evidence: PCS. Frequency: 3/3. (PMID:17250669)
- 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: PCS. Frequency: 2/9. (PMID:37303127;PMID:17250669)
- 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: 3/101. (PMID:37843397;PMID:37303127)
- Elevated circulating aspartate aminotransferase concentration (HP:0031956): The concentration of aspartate aminotransferase (AST) in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 3/6. (PMID:37303127)
- Hypertriglyceridemia (HP:0002155): An abnormal increase in the level of triglycerides in the blood. Evidence: PCS. Frequency: 79/118. (PMID:37843397;PMID:37303127;PMID:17250669;PMID:11344241)
- Hypercholesterolemia (HP:0003124): An increased concentration of cholesterol in the blood. Evidence: PCS. Frequency: 55/125. (PMID:37843397;PMID:28450900;PMID:37303127;PMID:17250669)
- Increased circulating free fatty acid level (HP:0030781): A higher than normal levels of the fatty acids which can occur in plasma as a result of lipolysis in adipose tissue or when plasma triacyglycerols are taken into tissues. Evidence: PCS. Frequency: 3/6. (PMID:37303127)
- Muscular dystrophy (HP:0003560): The term dystrophy means abnormal growth. However, muscular dystrophy is used to describe primary myopathies with a genetic basis and a progressive course characterized by progressive skeletal muscle weakness and wasting, defects in muscle proteins, and histological features of muscle fiber degeneration (necrosis) and regeneration. If possible, it is preferred to use other HPO terms to describe the precise phenotypic abnormalities. Evidence: PCS. Frequency: 1/6. (PMID:37303127)
- Premature coronary artery atherosclerosis (HP:0005181): Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries before age of 45. Evidence: PCS. Frequency: 9/115. (PMID:37843397)
- Abnormal circulating creatinine concentration (HP:0012100): An abnormal concentration of creatinine in the blood. Evidence: PCS. Frequency: 0/6. (PMID:37303127)
- Prominent superficial blood vessels (HP:0007394). Evidence: PCS. Frequency: 0/1. (PMID:17250669)
- Constrictive median neuropathy (HP:0012185): Injury to the median nerve caused by its entrapment at the wrist as it traverses through the carpal tunnel. Clinically, constrictive median neuropathy is characterized by pain, paresthesia, and weakness in the median nerve distribution of the hand. Evidence: PCS. Frequency: 2/2. (PMID:11344241)
- Acute pancreatitis (HP:0001735): A acute form of pancreatitis. Evidence: TAS. Frequency: Frequent (HP:0040282). (OMIM:151660)
- Prolonged QT interval (HP:0001657): Increased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG). Evidence: PCS. Frequency: 1/6. (PMID:37303127)
- 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. (OMIM:151660)
- Loss of subcutaneous adipose tissue in limbs (HP:0003635): Loss (disappearance) of previously present subcutaneous fat tissue in arm or leg. Evidence: PCS. Frequency: 121/121. (PMID:37843397;PMID:17250669;PMID:11344241)
- Skeletal muscle hypertrophy (HP:0003712): Abnormal increase in muscle size and mass not due to training. Evidence: PCS. Frequency: 5/5. (PMID:17250669;PMID:11344241)
- Adipose tissue loss (HP:0008887): A reduction in the amount of adipose tissue (fat) compared with the amount previously present in an individual. Evidence: TAS. (OMIM:151660)
- Prominent superficial veins (HP:0001015): A condition in which superficial veins (i.e., veins just under the skin) are more conspicuous or noticeable than normal. Evidence: PCS. Frequency: 10/12. (OMIM:151660;PMID:17250669)
- Proptosis (HP:0000520): An eye that is protruding anterior to the plane of the face to a greater extent than is typical. Evidence: PCS. Frequency: 0/3. (PMID:17250669)
- Type II diabetes mellitus (HP:0005978): A type of diabetes mellitus initially characterized by insulin resistance and hyperinsulinemia and subsequently by glucose interolerance and hyperglycemia. Evidence: PCS. Frequency: 89/122. (PMID:37843397;PMID:37303127;PMID:17250669;PMID:11344241)
- 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: IEA. (OMIM:151660)
- Autosomal dominant inheritance (HP:0000006): 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. Evidence: IEA. (OMIM:151660)
- Hyperinsulinemia (HP:0000842): An increased concentration of insulin in the blood. Evidence: PCS. Frequency: 4/6. (PMID:37303127)
- Pancreatitis (HP:0001733): The presence of inflammation in the pancreas. Evidence: PCS. Frequency: 18/117. (PMID:37843397;PMID:17250669)
- Hyperuricemia (HP:0002149): The concentration of uric acid in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 3/6. (PMID:37303127)
- Hepatic steatosis (HP:0001397): Steatosis is a term used to denote lipid accumulation within hepatocytes. Evidence: PCS. Frequency: 87/108. (PMID:37843397;PMID:37303127)
- Alopecia (HP:0001596): A noncongenital process of hair loss, which may progress to partial or complete baldness. Evidence: PCS. Frequency: 0/3. (PMID:17250669)
- Myotonia (HP:0002486): An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation. Evidence: PCS. Frequency: 1/6. (PMID:37303127)
- Atrial fibrillation (HP:0005110): An atrial arrhythmia characterized by disorganized atrial activity without discrete P waves on the surface EKG, but instead by an undulating baseline or more sharply circumscribed atrial deflections of varying amplitude an frequency ranging from 350 to 600 per minute. Evidence: PCS. Frequency: 1/6. (PMID:37303127)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: PCS. Frequency: 2/2. (PMID:11344241)
- Mottled pigmentation (HP:0001070): Patchy and irregular skin pigmentation. Evidence: PCS. Frequency: 0/3. (PMID:17250669)
- Elevated circulating alanine aminotransferase concentration (HP:0031964): An abnormally high concentration in the circulation of alanine aminotransferase (ALT). Evidence: PCS. Frequency: 3/6. (PMID:37303127)
- Enlarged peripheral nerve (HP:0012645): Increase in size of a peripheral nerve. This finding can be appreciated by palpation along the axis of the nerve. Evidence: TAS. (OMIM:151660)
- Osteoporosis (HP:0000939): Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD). Evidence: PCS. Frequency: 2/6. (PMID:37303127)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: PCS. Frequency: 0/3. (PMID:17250669)
- Loss of truncal subcutaneous adipose tissue (HP:0009002): Loss (reduction of previously present) of subcutaneous adipose tissue in the region of the trunk. Evidence: PCS. Frequency: 108/115. (PMID:37843397)
- Insulin resistance (HP:0000855): Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood glucose levels. Evidence: PCS. Frequency: 6/6. (PMID:37303127)
- Increased intraabdominal fat (HP:0008993): An abnormal increase in the amount of intraabdominal fat tissue. Evidence: IEA. (OMIM:151660)
- Lipodystrophy (HP:0009125): Degenerative changes of the fat tissue. Evidence: PCS. Frequency: 121/121. (PMID:37843397;PMID:37303127;PMID:17250669;PMID:11344241)
- Splenomegaly (HP:0001744): Abnormal increased size of the spleen. Evidence: PCS. Frequency: 2/2. (PMID:11344241)
- Myalgia (HP:0003326): Pain in muscle. Evidence: IEA. (OMIM:151660)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 5/9. (PMID:37303127;PMID:17250669)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: PCS. Frequency: 2/6. (PMID:37303127)
- Labial pseudohypertrophy (HP:0008739). Evidence: IEA. (OMIM:151660)
- Xanthomatosis (HP:0000991): The presence of multiple xanthomas (xanthomata) in the skin. Xanthomas are yellowish, firm, lipid-laden nodules in the skin. Evidence: PCS. Frequency: 4/4. (PMID:17250669;PMID:11344241)
- Late onset (HP:0003584): A type of adult onset with onset of symptoms after the age of 60 years. Evidence: PCS. Frequency: 1/6. (PMID:37303127)
- Adult onset (HP:0003581): Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later. Evidence: PCS. Frequency: 1/3. (PMID:17250669)
- Elevated circulating LDL-C concentration (HP:0003141): The concentration of low-density lipoprotein cholesterol in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 25/110. (PMID:37843397;PMID:37303127;PMID:17250669)
- Abnormal circulating lipoprotein lipase concentration (HP:0033477): A deviation from the normal concentration of lipoprotein lipase in the blood circulation. Evidence: PCS. Frequency: 0/1. (PMID:11344241)
- Elevated circulating C-reactive protein concentration (HP:0011227): The concentration of C-reactive protein in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 4/6. (PMID:37303127)
- Elevated circulating NT-proBNP concentration (HP:0031185): The concentration of NT-proBNP (= N-terminal pro-B-type natriuretic peptide, = N-terminal prohormone of brain natriuretic peptide) in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 3/5. (PMID:37303127)
- Exercise-induced myalgia (HP:0003738): The occurrence of an unusually high amount of muscle pain following exercise. Evidence: PCS. Frequency: 3/3. (PMID:11344241)
- Hypertension (HP:0000822): The presence of chronic increased pressure in the systemic arterial system. Evidence: PCS. Frequency: 1/3. Onset: Late onset (HP:0003584). (PMID:17250669)
- 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: 2/6. (PMID:37303127)
- Cardiomyopathy (HP:0001638): A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality. Evidence: PCS. Frequency: 1/4. (PMID:37303127;PMID:17250669)
- Increased intramuscular fat (HP:0008985): An abnormal increase in the amount of intramuscular fat tissue. Evidence: IEA. (OMIM:151660)
- Overweight (HP:0025502): Increased body weight with a body mass index of 25-29.9 kg per square meter. Evidence: PCS. Frequency: 42/102. (PMID:37843397;PMID:17250669)
- Polycystic ovaries (HP:0000147). Evidence: IEA. (OMIM:151660)
- Atrioventricular block (HP:0001678): Delayed or lack of conduction of atrial depolarizations through the atrioventricular node to the ventricles. Evidence: PCS. Frequency: 2/118. (PMID:37843397;PMID:17250669)
- Increased adipose tissue around the neck (HP:0000468): An increased amount of subcutaneous fat tissue around the neck. Evidence: IEA. (OMIM:151660)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: PCS. Frequency: 0/3. (PMID:17250669)
- Obesity (HP:0001513): Accumulation of substantial excess body fat. Evidence: PCS. Frequency: 21/103. (PMID:37843397;PMID:17250669;PMID:11344241)
- Glucose intolerance (HP:0001952): Glucose intolerance (GI) can be defined as dysglycemia that comprises both prediabetes and diabetes. It includes the conditions of impaired fasting glucose (IFG) and impaired glucose tolerance (IGT) and diabetes mellitus (DM). Evidence: PCS. Frequency: 2/2. (PMID:37303127)
These phenotypes are associated with the disease familial partial lipodystrophy, Dunnigan type (OMIM:151660).