Bloom syndrome
ORPHA:125DiseaseAutosomal recessiveAntenatal, Neonatal
Ассоциированные гены1
Фенотипы (HPO)67
Очень частый (80–99%)7
HP:0001510Growth delay
HP:0001511Intrauterine growth retardation
HP:0001518Small for gestational age
HP:0002715Abnormality of the immune system
HP:0004313Decreased circulating antibody level
HP:0008850Severe postnatal growth retardation
HP:0008887Adipose tissue loss
Частый (30–79%)22
HP:0000272Malar flattening
HP:0000275Narrow face
HP:0000278Retrognathia
HP:0000347Micrognathia
HP:0000388Otitis media
HP:0000855Insulin resistance
HP:0000957Cafe-au-lait spot
HP:0000988Skin rash
HP:0000992Cutaneous photosensitivity
HP:0001010Hypopigmentation of the skin
HP:0002020Gastroesophageal reflux
HP:0002664Neoplasm
HP:0002719Recurrent infections
HP:0002720Decreased circulating IgA level
HP:0002850Decreased circulating total IgM
HP:0003251Male infertility
HP:0004315Decreased circulating IgG level
HP:0004396Poor appetite
HP:0008209Premature ovarian insufficiency
HP:0031393Abnormal proportion of CD8 T cells
HP:0032218Decreased proportion of CD4-positive T cells
HP:0040195Decreased head circumference
Периодический (5–29%)33
HP:0000010Recurrent urinary tract infections
HP:0000027Azoospermia
HP:0000554Uveitis
HP:0000653Sparse eyelashes
HP:0000798Oligozoospermia
HP:0000819Diabetes mellitus
HP:0001009Telangiectasia
HP:0001029Poikiloderma
HP:0001818Paronychia
HP:0002090Pneumonia
HP:0002232Patchy alopecia
HP:0002665Lymphoma
HP:0002863Myelodysplasia
HP:0004808Acute myeloid leukemia
HP:0005353Recurrent herpes
HP:0006510Chronic pulmonary obstruction
HP:0006721Acute lymphoblastic leukemia
HP:0006758Malignant genitourinary tract tumor
HP:0008066Abnormal blistering of the skin
HP:0008069Neoplasm of the skin
HP:0011110Recurrent tonsillitis
HP:0011471Gastrostomy tube feeding in infancy
HP:0011947Respiratory tract infection
HP:0012384Rhinitis
HP:0012387Bronchitis
HP:0012743Abdominal obesity
HP:0020105Severe toxoplasmosis
HP:0025615Abscess
HP:0031123Recurrent gastroenteritis
HP:0032170Severe varicella zoster infection
HP:0100013Neoplasm of the breast
HP:0100273Neoplasm of the colon
HP:0100825Cheilitis
Очень редкий (1–4%)5
HP:0000488Retinopathy
HP:0002667Nephroblastoma
HP:0002878Respiratory failure
HP:0012126Stomach cancer
HP:0100751Esophageal neoplasm
Эпидемиология3
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 2.08 | Specific population | Value and class |
| Cases/families | — | 300 | 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)