Shwachman-Diamond syndrome
ORPHA:811DiseaseAutosomal recessiveAntenatal, Childhood, Infancy, Neonatal
Ассоциированные гены3
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| SBDS | SBDS ribosome maturation factor | Disease-causing germline mutation(s) in | gene with protein product | 607444 |
| EFL1 | elongation factor like GTPase 1 | Disease-causing germline mutation(s) in | gene with protein product | 617538 |
| DNAJC21 | DnaJ heat shock protein family (Hsp40) member C21 | Disease-causing germline mutation(s) in | gene with protein product | 617048 |
Фенотипы (HPO)69
Очень частый (80–99%)7
HP:0000924Abnormality of the skeletal system
HP:0001738Exocrine pancreatic insufficiency
HP:0001871Abnormality of blood and blood-forming tissues
HP:0001875Decreased total neutrophil count
HP:0001903Anemia
HP:0002630Fat malabsorption
HP:0011024Abnormality of the gastrointestinal tract
Частый (30–79%)22
HP:0000708Atypical behavior
HP:0001508Failure to thrive
HP:0001510Growth delay
HP:0001873Thrombocytopenia
HP:0001897Normocytic anemia
HP:0001972Macrocytic anemia
HP:0002570Steatorrhea
HP:0002594Pancreatic hypoplasia
HP:0002750Delayed skeletal maturation
HP:0002863Myelodysplasia
HP:0004322Short stature
HP:0004395Malnutrition
HP:0004905Low levels of vitamin A
HP:0005518Increased mean corpuscular volume
HP:0011892Low levels of vitamin K
HP:0012202Increased serum bile acid concentration
HP:0040238Impaired neutrophil chemotaxis
HP:0100512Low levels of vitamin D
HP:0100513Low levels of vitamin E
HP:0410252Chronic neutropenia
HP:0410255Transient neutropenia
HP:0410289Hypoamylasemia
Периодический (5–29%)24
HP:0000246Sinusitis
HP:0000670Carious teeth
HP:0000729Autistic behavior
HP:0000736Short attention span
HP:0000886Deformed rib cage
HP:0000938Osteopenia
HP:0000988Skin rash
HP:0001249Intellectual disability
HP:0001367Abnormal joint morphology
HP:0001627Abnormal heart morphology
HP:0001876Pancytopenia
HP:0001882Leukopenia
HP:0001909Leukemia
HP:0001915Aplastic anemia
HP:0002090Pneumonia
HP:0002718Recurrent bacterial infections
HP:0002953Vertebral compression fracture
HP:0003016Metaphyseal widening
HP:0003025Metaphyseal irregularity
HP:0004429Recurrent viral infections
HP:0004808Acute myeloid leukemia
HP:0005528Bone marrow hypocellularity
HP:0005871Metaphyseal chondrodysplasia
HP:0045027Abnormality of the thoracic cavity
Очень редкий (1–4%)16
HP:0000155Oral ulcer
HP:0000356Abnormality of the outer ear
HP:0000365Hearing impairment
HP:0000684Delayed eruption of teeth
HP:0000819Diabetes mellitus
HP:0000824Decreased response to growth hormone stimulation test
HP:0000964Eczematoid dermatitis
HP:0001167Abnormality of finger
HP:0002240Hepatomegaly
HP:0002721Immunodeficiency
HP:0002754Osteomyelitis
HP:0002910Elevated circulating hepatic transaminase concentration
HP:0006461Proximal femoral epiphysiolysis
HP:0008064Ichthyosis
HP:0040075Hypopituitarism
HP:0100806Sepsis
Эпидемиология7
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.59 | Italy | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.5 | United Kingdom | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.67 | Puerto rico | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1.3 | Canada | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | — | Europe | Class only |
| Prevalence at birth | 1-9 / 1 000 000 | 0.5 | Worldwide | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.28 | Worldwide | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)