Primary ciliary dyskinesia
ORPHA:244DiseaseAutosomal dominant, Autosomal recessive, X-linked recessiveNeonatal
Ассоциированные гены53
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| NME5 | NME/NM23 family member 5 | Disease-causing germline mutation(s) in | gene with protein product | 603575 |
| DNAH1 | dynein axonemal heavy chain 1 | Disease-causing germline mutation(s) in | gene with protein product | 603332 |
| TTC12 | tetratricopeptide repeat domain 12 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 610732 |
| NEK10 | NIMA related kinase 10 | Disease-causing germline mutation(s) in | gene with protein product | 618726 |
| DNAAF6 | PIH1 domain containing 3 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 300933 |
| CFAP221 | cilia and flagella associated protein 221 | Disease-causing germline mutation(s) in | gene with protein product | 618704 |
| SPEF2 | sperm flagellar 2 | Disease-causing germline mutation(s) in | gene with protein product | 610172 |
| DNAJB13 | DnaJ heat shock protein family (Hsp40) member B13 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 610263 |
| ODAD4 | outer dynein arm docking complex subunit 4 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 617095 |
| MCIDAS | multiciliate differentiation and DNA synthesis associated cell cycle protein | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 614086 |
| GAS2L2 | growth arrest specific 2 like 2 | Disease-causing germline mutation(s) in | gene with protein product | 611398 |
| OFD1 | OFD1 centriole and centriolar satellite protein | Disease-causing germline mutation(s) in | gene with protein product | 300170 |
| DNAH11 | dynein axonemal heavy chain 11 | Disease-causing germline mutation(s) in | gene with protein product | 603339 |
| DNAH5 | dynein axonemal heavy chain 5 | Disease-causing germline mutation(s) in | gene with protein product | 603335 |
| DNAI1 | dynein axonemal intermediate chain 1 | Disease-causing germline mutation(s) in | gene with protein product | 604366 |
| NME8 | NME/NM23 family member 8 | Disease-causing germline mutation(s) in | gene with protein product | 607421 |
| DNAI2 | dynein axonemal intermediate chain 2 | Disease-causing germline mutation(s) in | gene with protein product | 605483 |
| DNAAF2 | dynein axonemal assembly factor 2 | Disease-causing germline mutation(s) in | gene with protein product | 612517 |
| RSPH9 | radial spoke head component 9 | Disease-causing germline mutation(s) in | gene with protein product | 612648 |
| RSPH4A | radial spoke head component 4A | Disease-causing germline mutation(s) in | gene with protein product | 612647 |
| DNAAF1 | dynein axonemal assembly factor 1 | Disease-causing germline mutation(s) in | gene with protein product | 613190 |
| CCDC39 | coiled-coil domain 39 molecular ruler complex subunit | Disease-causing germline mutation(s) in | gene with protein product | 613798 |
| CCDC40 | coiled-coil domain 40 molecular ruler complex subunit | Disease-causing germline mutation(s) in | gene with protein product | 613799 |
| DNAL1 | dynein axonemal light chain 1 | Disease-causing germline mutation(s) in | gene with protein product | 610062 |
| DNAAF3 | dynein axonemal assembly factor 3 | Disease-causing germline mutation(s) in | gene with protein product | 614566 |
| DNAAF19 | dynein axonemal assembly factor 19 | Disease-causing germline mutation(s) in | gene with protein product | 614677 |
| DNAAF5 | dynein axonemal assembly factor 5 | Disease-causing germline mutation(s) in | gene with protein product | 614864 |
| HYDIN | HYDIN axonemal central pair apparatus protein | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 610812 |
| DNAAF11 | dynein axonemal assembly factor 11 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 614930 |
| ODAD1 | outer dynein arm docking complex subunit 1 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 615038 |
| DRC1 | dynein regulatory complex subunit 1 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 615288 |
| ODAD2 | outer dynein arm docking complex subunit 2 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 615408 |
| DNAAF4 | dynein axonemal assembly factor 4 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 608706 |
| RSPH1 | radial spoke head component 1 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 609314 |
| ZMYND10 | zinc finger MYND-type containing 10 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 607070 |
| CFAP298 | cilia and flagella associated protein 298 | Disease-causing germline mutation(s) in | gene with protein product | 615494 |
| DRC2 | dynein regulatory complex subunit 2 | Disease-causing germline mutation(s) in | gene with protein product | 611088 |
| SPAG1 | sperm associated antigen 1 | Disease-causing germline mutation(s) in | gene with protein product | 603395 |
| CCNO | cyclin O | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 607752 |
| ODAD3 | outer dynein arm docking complex subunit 3 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 615956 |
| RSPH3 | radial spoke head 3 | Disease-causing germline mutation(s) in | gene with protein product | 615876 |
| DRC4 | dynein regulatory complex subunit 4 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 605178 |
| RPGR | retinitis pigmentosa GTPase regulator | Disease-causing germline mutation(s) in | gene with protein product | 312610 |
| CFAP74 | cilia and flagella associated protein 74 | Disease-causing germline mutation(s) in | gene with protein product | 620187 |
| DNAH7 | dynein axonemal heavy chain 7 | Disease-causing germline mutation(s) in | gene with protein product | 610061 |
| BRWD1 | bromodomain and WD repeat domain containing 1 | Disease-causing germline mutation(s) in | gene with protein product | 617824 |
| DAW1 | dynein assembly factor with WD repeats 1 | Disease-causing germline mutation(s) in | gene with protein product | 620279 |
| CLXN | calaxin | Disease-causing germline mutation(s) in | gene with protein product | 619564 |
| STK36 | serine/threonine kinase 36 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 607652 |
| FOXJ1 | forkhead box J1 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 602291 |
| DNAH9 | dynein axonemal heavy chain 9 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 603330 |
| LRRC56 | leucine rich repeat containing 56 | Disease-causing germline mutation(s) in | gene with protein product | 618227 |
| CFAP300 | cilia and flagella associated protein 300 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 618058 |
Фенотипы (HPO)47
Частый (30–79%)13
HP:0000389Chronic otitis media
HP:0000403Recurrent otitis media
HP:0001742Nasal congestion
HP:0002257Chronic rhinitis
HP:0002643Neonatal respiratory distress
HP:0003251Male infertility
HP:0005425Recurrent sinopulmonary infections
HP:0011109Chronic sinusitis
HP:0011947Respiratory tract infection
HP:0012206Abnormal sperm motility
HP:0031245Productive cough
HP:0032016Abnormal sputum
HP:0100582Nasal polyposis
Периодический (5–29%)20
HP:0000119Abnormality of the genitourinary system
HP:0000365Hearing impairment
HP:0000405Conductive hearing impairment
HP:0000750Delayed speech and language development
HP:0000924Abnormality of the skeletal system
HP:0001217Clubbing
HP:0001627Abnormal heart morphology
HP:0001696Situs inversus totalis
HP:0002011Morphological central nervous system abnormality
HP:0002110Bronchiectasis
HP:0006536Airway obstruction
HP:0008222Female infertility
HP:0011274Recurrent mycobacterial infections
HP:0011617Pulmonary situs ambiguus
HP:0025177Peribronchovascular interstitial thickening
HP:0030680Abnormal cardiovascular system morphology
HP:0030828Wheezing
HP:0031456Ectopic pregnancy
HP:0032543Lithoptysis
HP:0100750Atelectasis
Очень редкий (1–4%)14
HP:0000238Hydrocephalus
HP:0000510Rod-cone dystrophy
HP:0001669Transposition of the great arteries
HP:0001719Double outlet right ventricle
HP:0001746Asplenia
HP:0001748Polysplenia
HP:0002119Ventriculomegaly
HP:0002566Intestinal malrotation
HP:0002878Respiratory failure
HP:0005301Persistent left superior vena cava
HP:0010772Anomalous pulmonary venous return
HP:0011535Abnormal atrial arrangement
HP:0011539Atrial situs ambiguous
HP:0025576Abnormal inferior vena cava morphology
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 44 | Pakistan | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 5 | Europe | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)