Isolated Joubert syndrome
ORPHA:475Malformation syndromeAutosomal recessiveAntenatal
Ассоциированные гены30
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| CEP120 | centrosomal protein 120 | Disease-causing germline mutation(s) in | gene with protein product | 613446 |
| PIBF1 | progesterone immunomodulatory binding factor 1 | Disease-causing germline mutation(s) in | gene with protein product | 607532 |
| OFD1 | OFD1 centriole and centriolar satellite protein | Disease-causing germline mutation(s) in | gene with protein product | 300170 |
| TCTN3 | tectonic family member 3 | Disease-causing germline mutation(s) in | gene with protein product | 613847 |
| PDE6D | phosphodiesterase 6D | Disease-causing germline mutation(s) in | gene with protein product | 602676 |
| KIAA0753 | KIAA0753 | Disease-causing germline mutation(s) in | gene with protein product | 617112 |
| IFT74 | intraflagellar transport 74 | Disease-causing germline mutation(s) in | gene with protein product | 608040 |
| B9D2 | B9 domain containing 2 | Disease-causing germline mutation(s) in | gene with protein product | 611951 |
| TCTN2 | tectonic family member 2 | Disease-causing germline mutation(s) in | gene with protein product | 613846 |
| AHI1 | Abelson helper integration site 1 | Disease-causing germline mutation(s) in | gene with protein product | 608894 |
| TMEM67 | transmembrane protein 67 | Disease-causing germline mutation(s) in | gene with protein product | 609884 |
| MKS1 | MKS transition zone complex subunit 1 | Disease-causing germline mutation(s) in | gene with protein product | 609883 |
| ARL13B | ARF like GTPase 13B | Disease-causing germline mutation(s) in | gene with protein product | 608922 |
| INPP5E | inositol polyphosphate-5-phosphatase E | Disease-causing germline mutation(s) in | gene with protein product | 613037 |
| TCTN1 | tectonic family member 1 | Disease-causing germline mutation(s) in | gene with protein product | 609863 |
| B9D1 | B9 domain containing 1 | Disease-causing germline mutation(s) in | gene with protein product | 614144 |
| TMEM237 | transmembrane protein 237 | Disease-causing germline mutation(s) in | gene with protein product | 614423 |
| CEP41 | centrosomal protein 41 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 610523 |
| CPLANE1 | ciliogenesis and planar polarity effector complex subunit 1 | Disease-causing germline mutation(s) in | gene with protein product | 614571 |
| CSPP1 | centrosome and spindle pole associated protein 1 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 611654 |
| KIAA0586 | KIAA0586 | Disease-causing germline mutation(s) in | gene with protein product | 610178 |
| CEP104 | centrosomal protein 104 | Disease-causing germline mutation(s) in | gene with protein product | 616690 |
| KATNIP | katanin interacting protein | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 616650 |
| SUFU | SUFU negative regulator of hedgehog signaling | Disease-causing germline mutation(s) in | gene with protein product | 607035 |
| ARMC9 | armadillo repeat containing 9 | Disease-causing germline mutation(s) in | gene with protein product | 617612 |
| CBY1 | chibby 1, beta catenin antagonist | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 607757 |
| HYLS1 | HYLS1 centriolar and ciliogenesis associated | Disease-causing germline mutation(s) in | gene with protein product | 610693 |
| TOGARAM1 | TOG array regulator of axonemal microtubules 1 | Disease-causing germline mutation(s) in | gene with protein product | 617618 |
| TMEM218 | transmembrane protein 218 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 619285 |
| ARL3 | ARF like GTPase 3 | Disease-causing germline mutation(s) in | gene with protein product | 604695 |
Фенотипы (HPO)37
Очень частый (80–99%)9
HP:0000657Oculomotor apraxia
HP:0001249Intellectual disability
HP:0001251Ataxia
HP:0001252Hypotonia
HP:0001263Global developmental delay
HP:0001320Cerebellar vermis hypoplasia
HP:0002104Apnea
HP:0002793Abnormal pattern of respiration
HP:0002876Episodic tachypnea
Частый (30–79%)5
HP:0000276Long face
HP:0000639Nystagmus
HP:0001288Gait disturbance
HP:0004422Biparietal narrowing
HP:0008872Feeding difficulties in infancy
Периодический (5–29%)23
HP:0000202Orofacial cleft
HP:0000238Hydrocephalus
HP:0000369Low-set ears
HP:0000426Prominent nasal bridge
HP:0000463Anteverted nares
HP:0000486Strabismus
HP:0000508Ptosis
HP:0000612Iris coloboma
HP:0000864Abnormality of the hypothalamus-pituitary axis
HP:0001161Hand polydactyly
HP:0001250Seizure
HP:0001337Tremor
HP:0001696Situs inversus totalis
HP:0001829Foot polydactyly
HP:0002084Encephalocele
HP:0002126Polymicrogyria
HP:0002251Aganglionic megacolon
HP:0002269Abnormality of neuronal migration
HP:0002553Highly arched eyebrow
HP:0002650Scoliosis
HP:0003312Abnormal form of the vertebral bodies
HP:0007370Aplasia/Hypoplasia of the corpus callosum
HP:0030680Abnormal cardiovascular system morphology
Эпидемиология4
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.47 | Italy | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1.6666 | Worldwide | Value and class |
| Point prevalence | Unknown | — | Worldwide | Class only |
| Prevalence at birth | 1-9 / 100 000 | 5 | Spain | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)