Diamond-Blackfan anemia
ORPHA:124DiseaseAutosomal dominantChildhood, Infancy, Neonatal
Ассоциированные гены26
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| RPL18 | ribosomal protein L18 | Disease-causing germline mutation(s) in | gene with protein product | 604179 |
| RPS27 | ribosomal protein S27 | Candidate gene tested in | gene with protein product | 603702 |
| RPL27 | ribosomal protein L27 | Candidate gene tested in | gene with protein product | 607526 |
| RPS15A | ribosomal protein S15a | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 603674 |
| TSR2 | TSR2 ribosome maturation factor | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 300945 |
| RPL35 | ribosomal protein L35 | Disease-causing germline mutation(s) in | gene with protein product | 618315 |
| RPL8 | ribosomal protein L8 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 604177 |
| HEATR3 | HEAT repeat containing 3 | Disease-causing germline mutation(s) in | gene with protein product | 614951 |
| RPL31 | ribosomal protein L31 | Candidate gene tested in | gene with protein product | 617415 |
| RPL9 | ribosomal protein L9 | Disease-causing germline mutation(s) in | gene with protein product | 603686 |
| ADA2 | adenosine deaminase 2 | Disease-causing germline mutation(s) in | gene with protein product | 607575 |
| RPS20 | ribosomal protein S20 | Disease-causing germline mutation(s) in | gene with protein product | 603682 |
| RPS19 | ribosomal protein S19 | Disease-causing germline mutation(s) in | gene with protein product | 603474 |
| RPS24 | ribosomal protein S24 | Disease-causing germline mutation(s) in | gene with protein product | 602412 |
| GATA1 | GATA binding protein 1 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 305371 |
| RPS17 | ribosomal protein S17 | Disease-causing germline mutation(s) in | gene with protein product | 180472 |
| RPS7 | ribosomal protein S7 | Disease-causing germline mutation(s) in | gene with protein product | 603658 |
| RPL5 | ribosomal protein L5 | Disease-causing germline mutation(s) in | gene with protein product | 603634 |
| RPL11 | ribosomal protein L11 | Disease-causing germline mutation(s) in | gene with protein product | 604175 |
| RPL35A | ribosomal protein L35a | Disease-causing germline mutation(s) in | gene with protein product | 180468 |
| RPS10 | ribosomal protein S10 | Disease-causing germline mutation(s) in | gene with protein product | 603632 |
| RPS26 | ribosomal protein S26 | Disease-causing germline mutation(s) in | gene with protein product | 603701 |
| RPL26 | ribosomal protein L26 | Disease-causing germline mutation(s) in | gene with protein product | 603704 |
| RPL15 | ribosomal protein L15 | Disease-causing germline mutation(s) in | gene with protein product | 604174 |
| RPS29 | ribosomal protein S29 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 603633 |
| RPS28 | ribosomal protein S28 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 603685 |
Фенотипы (HPO)59
Очень частый (80–99%)2
HP:0012410Pure red cell aplasia
HP:0030270Elevated red cell adenosine deaminase activity
Частый (30–79%)10
HP:0000234Abnormality of the head
HP:0000980Pallor
HP:0001254Lethargy
HP:0001510Growth delay
HP:0001518Small for gestational age
HP:0001896Reticulocytopenia
HP:0005518Increased mean corpuscular volume
HP:0005532Macrocytic dyserythropoietic anemia
HP:0011904Persistence of hemoglobin F
HP:0012133Erythroid hypoplasia
Периодический (5–29%)25
HP:0000047Hypospadias
HP:0000085Horseshoe kidney
HP:0000104Renal agenesis
HP:0000119Abnormality of the genitourinary system
HP:0000185Cleft soft palate
HP:0000218High palate
HP:0000465Webbed neck
HP:0000470Short neck
HP:0000912Sprengel anomaly
HP:0001199Triphalangeal thumb
HP:0001227Abnormality of the thenar eminence
HP:0001627Abnormal heart morphology
HP:0001629Ventricular septal defect
HP:0001631Atrial septal defect
HP:0001882Leukopenia
HP:0001895Normochromic anemia
HP:0002817Abnormality of the upper limb
HP:0002863Myelodysplasia
HP:0004322Short stature
HP:0009777Absent thumb
HP:0009778Short thumb
HP:0009944Partial duplication of thumb phalanx
HP:0012758Neurodevelopmental delay
HP:0020118Radial artery aplasia
HP:0410030Cleft lip
Очень редкий (1–4%)22
HP:0000252Microcephaly
HP:0000286Epicanthus
HP:0000294Low anterior hairline
HP:0000316Hypertelorism
HP:0000347Micrognathia
HP:0000369Low-set ears
HP:0000431Wide nasal bridge
HP:0000486Strabismus
HP:0000508Ptosis
HP:0000519Developmental cataract
HP:0001087Developmental glaucoma
HP:0001680Coarctation of aorta
HP:0001790Nonimmune hydrops fetalis
HP:0001873Thrombocytopenia
HP:0001875Decreased total neutrophil count
HP:0001894Thrombocytosis
HP:0002669Osteosarcoma
HP:0004808Acute myeloid leukemia
HP:0005280Depressed nasal bridge
HP:0006758Malignant genitourinary tract tumor
HP:0008551Microtia
HP:0040276Adenocarcinoma of the colon
Эпидемиология6
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.67 | Europe | 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 | 0.65 | Italy | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.75 | United States | Value and class |
| Point prevalence | Unknown | — | Worldwide | Class only |
| Point prevalence | 1-9 / 1 000 000 | 0.194 | China | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)