Fanconi anemia
ORPHA:84Malformation syndromeAutosomal recessive, X-linked recessiveChildhood
Ассоциированные гены23
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| RAD51 | RAD51 recombinase | Disease-causing germline mutation(s) in | gene with protein product | 179617 |
| MAD2L2 | mitotic arrest deficient 2 like 2 | Disease-causing germline mutation(s) in | gene with protein product | 604094 |
| BRCA1 | BRCA1 DNA repair associated | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 113705 |
| XRCC2 | X-ray repair cross complementing 2 | Disease-causing germline mutation(s) in | gene with protein product | 600375 |
| FAAP100 | FA core complex associated protein 100 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 611301 |
| RFWD3 | ring finger and WD repeat domain 3 | Disease-causing germline mutation(s) in | gene with protein product | 614151 |
| BRCA2 | BRCA2 DNA repair associated | Disease-causing germline mutation(s) in | gene with protein product | 600185 |
| BRIP1 | BRCA1 interacting DNA helicase 1 | Disease-causing germline mutation(s) in | gene with protein product | 605882 |
| ERCC4 | ERCC excision repair 4, endonuclease catalytic subunit | Disease-causing germline mutation(s) in | gene with protein product | 133520 |
| FANCA | FA complementation group A | Disease-causing germline mutation(s) in | gene with protein product | 607139 |
| FANCB | FA complementation group B | Disease-causing germline mutation(s) in | gene with protein product | 300515 |
| FANCC | FA complementation group C | Disease-causing germline mutation(s) in | gene with protein product | 613899 |
| FANCD2 | FA complementation group D2 | Disease-causing germline mutation(s) in | gene with protein product | 613984 |
| FANCE | FA complementation group E | Disease-causing germline mutation(s) in | gene with protein product | 613976 |
| FANCF | FA complementation group F | Disease-causing germline mutation(s) in | gene with protein product | 613897 |
| FANCG | FA complementation group G | Disease-causing germline mutation(s) in | gene with protein product | 602956 |
| FANCL | FA complementation group L | Disease-causing germline mutation(s) in | gene with protein product | 608111 |
| FANCM | FA complementation group M | Disease-causing germline mutation(s) in | gene with protein product | 609644 |
| FANCI | FA complementation group I | Disease-causing germline mutation(s) in | gene with protein product | 611360 |
| PALB2 | partner and localizer of BRCA2 | Disease-causing germline mutation(s) in | gene with protein product | 610355 |
| RAD51C | RAD51 paralog C | Disease-causing germline mutation(s) in | gene with protein product | 602774 |
| SLX4 | SLX4 structure-specific endonuclease subunit | Disease-causing germline mutation(s) in | gene with protein product | 613278 |
| UBE2T | ubiquitin conjugating enzyme E2 T | Disease-causing germline mutation(s) in | gene with protein product | 610538 |
Фенотипы (HPO)106
Очень частый (80–99%)13
HP:0001000Abnormality of skin pigmentation
HP:0001053Hypopigmented skin patches
HP:0001172Abnormal thumb morphology
HP:0001871Abnormality of blood and blood-forming tissues
HP:0001873Thrombocytopenia
HP:0001882Leukopenia
HP:0001903Anemia
HP:0002817Abnormality of the upper limb
HP:0003220Abnormality of chromosome stability
HP:0004322Short stature
HP:0005522Pyridoxine-responsive sideroblastic anemia
HP:0006501Aplasia/Hypoplasia of the radius
HP:0007400Irregular hyperpigmentation
Частый (30–79%)10
HP:0000079Abnormality of the urinary system
HP:0000252Microcephaly
HP:0001249Intellectual disability
HP:0001263Global developmental delay
HP:0001671Abnormal cardiac septum morphology
HP:0002650Scoliosis
HP:0002664Neoplasm
HP:0007874Almond-shaped palpebral fissure
HP:0012210Abnormal renal morphology
HP:0012745Short palpebral fissure
Периодический (5–29%)83
HP:0000135Hypogonadism
HP:0000175Cleft palate
HP:0000218High palate
HP:0000238Hydrocephalus
HP:0000268Dolichocephaly
HP:0000286Epicanthus
HP:0000316Hypertelorism
HP:0000324Facial asymmetry
HP:0000340Sloping forehead
HP:0000347Micrognathia
HP:0000364Hearing abnormality
HP:0000365Hearing impairment
HP:0000453Choanal atresia
HP:0000478Abnormality of the eye
HP:0000483Astigmatism
HP:0000486Strabismus
HP:0000492Abnormal eyelid morphology
HP:0000504Abnormality of vision
HP:0000505Visual impairment
HP:0000508Ptosis
HP:0000518Cataract
HP:0000520Proptosis
HP:0000568Microphthalmia
HP:0000582Upslanted palpebral fissure
HP:0000639Nystagmus
HP:0000813Bicornuate uterus
HP:0000864Abnormality of the hypothalamus-pituitary axis
HP:0001199Triphalangeal thumb
HP:0001347Hyperreflexia
HP:0001392Abnormality of the liver
HP:0001510Growth delay
HP:0001511Intrauterine growth retardation
HP:0001537Umbilical hernia
HP:0001562Oligohydramnios
HP:0001631Atrial septal defect
HP:0001636Tetralogy of Fallot
HP:0001639Hypertrophic cardiomyopathy
HP:0001643Patent ductus arteriosus
HP:0001646Abnormal aortic valve morphology
HP:0001679Abnormal aortic morphology
HP:0001760Abnormal foot morphology
HP:0001763Pes planus
HP:0001770Toe syndactyly
HP:0001824Weight loss
HP:0002007Frontal bossing
HP:0002023Anal atresia
HP:0002119Ventriculomegaly
HP:0002245Meckel diverticulum
HP:0002251Aganglionic megacolon
HP:0002414Spina bifida
HP:0002575Tracheoesophageal fistula
HP:0002823Abnormality of femur morphology
HP:0002827Hip dislocation
HP:0002863Myelodysplasia
HP:0003022Hypoplasia of the ulna
HP:0004209Clinodactyly of the 5th finger
HP:0004349Reduced bone mineral density
HP:0005344Abnormality of the carotid arteries
HP:0006101Finger syndactyly
HP:0006265Aplasia/Hypoplasia of fingers
HP:0006824Cranial nerve paralysis
HP:0007565Multiple cafe-au-lait spots
HP:0008053Aplasia/Hypoplasia of the iris
HP:0008678Renal hypoplasia/aplasia
HP:0010293Aplasia/Hypoplasia of the uvula
HP:0010469Absent testis
HP:0012041Decreased fertility in males
HP:0012639Abnormal nervous system morphology
HP:0040071Abnormal morphology of ulna
HP:0100026Arteriovenous malformation
HP:0100542Abnormal localization of kidney
HP:0100587Abnormality of the preputium
HP:0100760Clubbing of toes
HP:0100867Duodenal stenosis
HP:0000010Recurrent urinary tract infections
HP:0000027Azoospermia
HP:0000028Cryptorchidism
HP:0000035Abnormal testis morphology
HP:0000047Hypospadias
HP:0000072Hydroureter
HP:0000083Renal insufficiency
HP:0000130Abnormality of the uterus
HP:0000377Abnormal pinna morphology
Эпидемиология7
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 3.3 | Specific population | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.3 | Europe | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.62 | Europe | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 2.2 | Israel | Value and class |
| Point prevalence | 1-9 / 100 000 | 2.5 | Specific population | Value and class |
| Point prevalence | 1-9 / 100 000 | 2.5 | Specific population | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.111 | China | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)