Infantile systemic hyalinosis
ORPHA:2176Clinical subtypeAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)37
Очень частый (80–99%)37
HP:0000147Polycystic ovaries
HP:0000212Gingival overgrowth
HP:0000256Macrocephaly
HP:0000280Coarse facial features
HP:0000470Short neck
HP:0000834Abnormality of the adrenal glands
HP:0000938Osteopenia
HP:0000939Osteoporosis
HP:0000953Hyperpigmentation of the skin
HP:0001004Lymphedema
HP:0001025Urticaria
HP:0001072Thickened skin
HP:0001156Brachydactyly
HP:0001252Hypotonia
HP:0001387Joint stiffness
HP:0001482Subcutaneous nodule
HP:0001508Failure to thrive
HP:0001510Growth delay
HP:0002024Malabsorption
HP:0002028Chronic diarrhea
HP:0002570Steatorrhea
HP:0002659Increased susceptibility to fractures
HP:0002718Recurrent bacterial infections
HP:0002721Immunodeficiency
HP:0002749Osteomalacia
HP:0002757Recurrent fractures
HP:0002983Micromelia
HP:0003011Abnormality of the musculature
HP:0003510Severe short stature
HP:0004279Short palm
HP:0006482Abnormal dental morphology
HP:0010515Aplasia/Hypoplasia of the thymus
HP:0011024Abnormality of the gastrointestinal tract
HP:0011968Feeding difficulties
HP:0100490Camptodactyly of finger
HP:0100585Telangiectasia of the skin
HP:0200042Skin ulcer
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)