Pearson syndrome
ORPHA:699DiseaseMitochondrial inheritance, Not applicableChildhood, Infancy, Neonatal
Фенотипы (HPO)70
Очень частый (80–99%)8
HP:0001875Decreased total neutrophil count
HP:0001923Reticulocytosis
HP:0003348Hyperalaninemia
HP:0003648Lacticaciduria
HP:0005528Bone marrow hypocellularity
HP:0005561Abnormality of bone marrow cell morphology
HP:0032169Severe infection
HP:0032653Elevated lactate:pyruvate ratio
Частый (30–79%)14
HP:0002490Increased CSF lactate
HP:0008897Postnatal growth retardation
HP:0012040Corneal stromal edema
HP:0002151Increased circulating lactate concentration
HP:0002240Hepatomegaly
HP:0000083Renal insufficiency
HP:0000707Abnormality of the nervous system
HP:0001518Small for gestational age
HP:0001627Abnormal heart morphology
HP:0001638Cardiomyopathy
HP:0001738Exocrine pancreatic insufficiency
HP:0001744Splenomegaly
HP:0001873Thrombocytopenia
HP:0001903Anemia
Периодический (5–29%)37
HP:0000093Proteinuria
HP:0000365Hearing impairment
HP:0000508Ptosis
HP:0000518Cataract
HP:0000580Pigmentary retinopathy
HP:0000602Ophthalmoplegia
HP:0000819Diabetes mellitus
HP:0000821Hypothyroidism
HP:0000824Decreased response to growth hormone stimulation test
HP:0001250Seizure
HP:0001251Ataxia
HP:0001252Hypotonia
HP:0001263Global developmental delay
HP:0001392Abnormality of the liver
HP:0001397Hepatic steatosis
HP:0001399Hepatic failure
HP:0001510Growth delay
HP:0001789Hydrops fetalis
HP:0001876Pancytopenia
HP:0001944Dehydration
HP:0002015Dysphagia
HP:0002028Chronic diarrhea
HP:0002033Poor suck
HP:0002148Hypophosphatemia
HP:0002376Developmental regression
HP:0002570Steatorrhea
HP:0002900Hypokalemia
HP:0002901Hypocalcemia
HP:0002910Elevated circulating hepatic transaminase concentration
HP:0002917Hypomagnesemia
HP:0003076Glycosuria
HP:0003128Lactic acidosis
HP:0008936Axial hypotonia
HP:0031546Cardiac conduction abnormality
HP:0032066Decreased serum bicarbonate concentration
HP:0100732Pancreatic fibrosis
HP:0200118Malabsorption of Vitamin B12
Очень редкий (1–4%)11
HP:0009099Median cleft palate
HP:0000107Renal cyst
HP:0000252Microcephaly
HP:0000639Nystagmus
HP:0000829Hypoparathyroidism
HP:0000846Adrenal insufficiency
HP:0000953Hyperpigmentation of the skin
HP:0000957Cafe-au-lait spot
HP:0000992Cutaneous photosensitivity
HP:0006270Hypoplastic spleen
HP:0006577Macronodular cirrhosis
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | 0.004 | Worldwide | Value and class |
| Cases/families | — | 194 | Worldwide | Case(s) |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)