Autosomal recessive primary microcephaly
ORPHA:2512Etiological subtypeAutosomal recessiveAntenatal, Neonatal
Ассоциированные гены29
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| WARS1 | tryptophanyl-tRNA synthetase 1 | Disease-causing germline mutation(s) in | gene with protein product | 191050 |
| SARS1 | seryl-tRNA synthetase 1 | Disease-causing germline mutation(s) in | gene with protein product | 607529 |
| CIT | citron rho-interacting serine/threonine kinase | Disease-causing germline mutation(s) in | gene with protein product | 605629 |
| NUP37 | nucleoporin 37 | Disease-causing germline mutation(s) in | gene with protein product | 609264 |
| NCAPD3 | non-SMC condensin II complex subunit D3 | Disease-causing germline mutation(s) in | gene with protein product | 609276 |
| CENPE | centromere protein E | Disease-causing germline mutation(s) in | gene with protein product | 117143 |
| COPB2 | coat protein complex I subunit beta 2 | Disease-causing germline mutation(s) in | gene with protein product | 606990 |
| PDCD6IP | programmed cell death 6 interacting protein | Disease-causing germline mutation(s) in | gene with protein product | 608074 |
| TRAPPC10 | trafficking protein particle complex subunit 10 | Disease-causing germline mutation(s) in | gene with protein product | 602103 |
| MCM7 | minichromosome maintenance complex component 7 | Disease-causing germline mutation(s) in | gene with protein product | 600592 |
| METTL5 | methyltransferase 5, N6-adenosine | Disease-causing germline mutation(s) in | gene with protein product | 618628 |
| TRAPPC14 | trafficking protein particle complex subunit 14 | Disease-causing germline mutation(s) in | gene with protein product | 618350 |
| KIF14 | kinesin family member 14 | Disease-causing germline mutation(s) in | gene with protein product | 611279 |
| TAF13 | TATA-box binding protein associated factor 13 | Disease-causing germline mutation(s) in | gene with protein product | 600774 |
| PYCR2 | pyrroline-5-carboxylate reductase 2 | Disease-causing germline mutation(s) in | gene with protein product | 616406 |
| CDK5RAP2 | CDK5 regulatory subunit associated protein 2 | Disease-causing germline mutation(s) in | gene with protein product | 608201 |
| CPAP | centrosome assembly and centriole elongation protein | Disease-causing germline mutation(s) in | gene with protein product | 609279 |
| ASPM | assembly factor for spindle microtubules | Disease-causing germline mutation(s) in | gene with protein product | 605481 |
| MCPH1 | microcephalin 1 | Disease-causing germline mutation(s) in | gene with protein product | 607117 |
| STIL | STIL centriolar assembly protein | Disease-causing germline mutation(s) in | gene with protein product | 181590 |
| WDR62 | WD repeat domain 62 | Disease-causing germline mutation(s) in | gene with protein product | 613583 |
| CEP152 | centrosomal protein 152 | Disease-causing germline mutation(s) in | gene with protein product | 613529 |
| CEP135 | centrosomal protein 135 | Disease-causing germline mutation(s) in | gene with protein product | 611423 |
| KNL1 | kinetochore scaffold 1 | Disease-causing germline mutation(s) in | gene with protein product | 609173 |
| PHC1 | polyhomeotic homolog 1 | Disease-causing germline mutation(s) in | gene with protein product | 602978 |
| CDK6 | cyclin dependent kinase 6 | Disease-causing germline mutation(s) in | gene with protein product | 603368 |
| SASS6 | SAS-6 centriolar assembly protein | Disease-causing germline mutation(s) in | gene with protein product | 609321 |
| MFSD2A | MFSD2 lysolipid transporter A, lysophospholipid | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 614397 |
| ANKLE2 | ankyrin repeat and LEM domain containing 2 | Disease-causing germline mutation(s) in | gene with protein product | 616062 |
Фенотипы (HPO)17
Очень частый (80–99%)9
HP:0000219Thin upper lip vermilion
HP:0000252Microcephaly
HP:0000340Sloping forehead
HP:0000582Upslanted palpebral fissure
HP:0001263Global developmental delay
HP:0001510Growth delay
HP:0002282Gray matter heterotopia
HP:0004322Short stature
HP:0010864Intellectual disability, severe
Частый (30–79%)8
HP:0000076Vesicoureteral reflux
HP:0000122Unilateral renal agenesis
HP:0001274Agenesis of corpus callosum
HP:0001302Pachygyria
HP:0001347Hyperreflexia
HP:0002119Ventriculomegaly
HP:0003103Abnormal cortical bone morphology
HP:0007333Hypoplasia of the frontal lobes
Эпидемиология3
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Annual incidence | 1-9 / 1 000 000 | 0.1 | Specific population | Value and class |
| Point prevalence | Unknown | — | Worldwide | Class only |
| Annual incidence | 1-9 / 100 000 | 1 | Pakistan | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)