Phenotypes associated with the disease Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency (ORPHA:284426):
- Abnormal delivery (HP:0001787): An abnormality of the birth process. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:284426)
- Easy fatigability (HP:0003388): Increased susceptibility to fatigue. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:284426)
- Exercise-induced myalgia (HP:0003738): The occurrence of an unusually high amount of muscle pain following exercise. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:284426)
- Exercise-induced myoglobinuria (HP:0008305): Presence of myoglobin in the urine following exercise. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:284426)
- Elevated creatine kinase after exercise (HP:0008331). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:284426)
- Exercise-induced rhabdomyolysis (HP:0009045): Rhabdomyolysis induced by exercise. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:284426)
- Regional abnormality of skin (HP:0011356): An abnormality of the skin that is restricted to a particular body region. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:284426)
- Erythematous plaque (HP:0025474): A plaque (a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter) with a red or reddish color often associated with inflammation or irritation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:284426)
- Psoriasiform lesion (HP:0025526): A skin lesions that resembles the lesions observed in psoriasis, viz., an erythematous plaque covered by fine silvery scales. Psoriasiform lesions can be observed in psoriasis as well as in other conditions including allergic contact dermatitis, seborrhoeic dermatitis, Atopic dermatitis, pityriasis rubra, and lichen simplex chronicus. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:284426)
- Annular cutaneous lesion (HP:0025528): A lesion of the skin with a ring-like distribution. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:284426)
- Scaling skin (HP:0040189): Refers to the loss of the outer layer of the epidermis in large, scale-like flakes. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:284426)
- Pustule (HP:0200039): A small elevation of the skin containing cloudy or purulent material usually consisting of necrotic inflammatory cells. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:284426)
- Parakeratosis (HP:0001036): Abnormal formation of the keratinocytes of the epidermis characterized by persistence of nuclei, incomplete formation of keratin, and moistness and swelling of the keratinocytes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:284426)
- Acute kidney injury (HP:0001919): Sudden loss of renal function, as manifested by decreased urine production, and a rise in serum creatinine or blood urea nitrogen concentration (azotemia). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:284426)
- Heat intolerance (HP:0002046): The inability to maintain a comfortable body temperature in warm or hot weather. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:284426)
- Elevated circulating hepatic transaminase concentration (HP:0002910): Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:284426)
- Hypercalcemia (HP:0003072): The concentration of calcium in the blood circulation is above the upper limit of normal. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:284426)
- Intermittent generalized erythematous papular rash (HP:0007432). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:284426)
- Chronic kidney disease (HP:0012622): Functional anomaly of the kidney persisting for at least three months. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:284426)
- Superficial dermal perivascular inflammatory infiltrate (HP:0031190): Numerous lymphocytes surrounding blood vessels in the superficial part of the dermis. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:284426)
- Predominantly dermal neutrophilic infiltrate (HP:0031236): Collection of neutrophils in the dermis. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:284426)
- Abnormal circulating lactate dehydrogenase concentration (HP:0045040): A deviation from the normal serum concentration/activity of lactate dehydrogenase (LDH), which catalyzes the reduction of pyruvate to form lactate. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:284426)
- 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: TAS. Frequency: Very rare (HP:0040284). (ORPHA:284426)