Rabson-Mendenhall syndrome
ORPHA:769Malformation syndromeAutosomal recessiveAntenatal, Childhood, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)56
Частый (30–79%)27
HP:0003758Reduced subcutaneous adipose tissue
HP:0004322Short stature
HP:0008283Fasting hyperinsulinemia
HP:0008665Clitoral hypertrophy
HP:0008850Severe postnatal growth retardation
HP:0011998Postprandial hyperglycemia
HP:0012542Onychauxis
HP:0000998Hypertrichosis
HP:0001007Hirsutism
HP:0001249Intellectual disability
HP:0001263Global developmental delay
HP:0001511Intrauterine growth retardation
HP:0002719Recurrent infections
HP:0003162Fasting hypoglycemia
HP:0000040Long penis
HP:0000164Abnormality of the dentition
HP:0000678Dental crowding
HP:0000831Insulin-resistant diabetes mellitus
HP:0000855Insulin resistance
HP:0000956Acanthosis nigricans
HP:0000958Dry skin
HP:0030088Increased serum testosterone level
HP:0030348Increased circulating androgen concentration
HP:0030796Increased C-peptide level
HP:0031452Lichenoid skin lesion
HP:0100874Thick hair
HP:0100879Enlarged ovaries
Периодический (5–29%)29
HP:0000121Nephrocalcinosis
HP:0000158Macroglossia
HP:0000212Gingival overgrowth
HP:0000218High palate
HP:0000221Furrowed tongue
HP:0000280Coarse facial features
HP:0000294Low anterior hairline
HP:0000303Mandibular prognathia
HP:0000400Macrotia
HP:0000426Prominent nasal bridge
HP:0000445Wide nose
HP:0000463Anteverted nares
HP:0000488Retinopathy
HP:0000821Hypothyroidism
HP:0000826Precocious puberty
HP:0001629Ventricular septal defect
HP:0001631Atrial septal defect
HP:0001638Cardiomyopathy
HP:0001953Diabetic ketoacidosis
HP:0001959Polydipsia
HP:0002216Premature graying of hair
HP:0002750Delayed skeletal maturation
HP:0002900Hypokalemia
HP:0006288Advanced eruption of teeth
HP:0007305CNS demyelination
HP:0009830Peripheral neuropathy
HP:0010442Polydactyly
HP:0012686Increased pineal volume
HP:0040270Impaired glucose tolerance
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)