Pachydermoperiostosis
ORPHA:2796Malformation syndromeAutosomal dominant, Autosomal recessiveChildhood
Ассоциированные гены2
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| SLCO2A1 | solute carrier organic anion transporter family member 2A1 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 601460 |
| HPGD | 15-hydroxyprostaglandin dehydrogenase | Disease-causing germline mutation(s) in | gene with protein product | 601688 |
Фенотипы (HPO)41
Очень частый (80–99%)7
HP:0000975Hyperhidrosis
HP:0001051Seborrheic dermatitis
HP:0001072Thickened skin
HP:0002653Bone pain
HP:0002754Osteomyelitis
HP:0003103Abnormal cortical bone morphology
HP:0005930Abnormality of epiphysis morphology
Частый (30–79%)13
HP:0000280Coarse facial features
HP:0000508Ptosis
HP:0000969Edema
HP:0001061Acne
HP:0001231Abnormal fingernail morphology
HP:0001369Arthritis
HP:0001376Limitation of joint mobility
HP:0001386Joint swelling
HP:0002797Osteolysis
HP:0002829Arthralgia
HP:0010541Cutis gyrata of scalp
HP:0011362Abnormal hair quantity
HP:0100760Clubbing of toes
Периодический (5–29%)21
HP:0004398Peptic ulcer
HP:0005561Abnormality of bone marrow cell morphology
HP:0008069Neoplasm of the skin
HP:0010720Abnormal hair pattern
HP:0010829Impaired temperature sensition
HP:0010885Avascular necrosis
HP:0100021Cerebral palsy
HP:0100526Neoplasm of the lung
HP:0200055Small hand
HP:0000771Gynecomastia
HP:0000845Elevated circulating growth hormone concentration
HP:0000939Osteoporosis
HP:0000982Palmoplantar keratoderma
HP:0001744Splenomegaly
HP:0001903Anemia
HP:0002024Malabsorption
HP:0002239Gastrointestinal hemorrhage
HP:0002240Hepatomegaly
HP:0002650Scoliosis
HP:0002970Genu varum
HP:0000964Eczematoid dermatitis
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 204 | Worldwide | Case(s) |
| 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)