Orofaciodigital syndrome type 6
ORPHA:2754Malformation syndromeAutosomal recessive, X-linked recessiveInfancy, Neonatal
Ассоциированные гены10
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| FAM149B1 | family with sequence similarity 149 member B1 | Disease-causing germline mutation(s) in | gene with protein product | 618413 |
| OFD1 | OFD1 centriole and centriolar satellite protein | Disease-causing germline mutation(s) in | gene with protein product | 300170 |
| TMEM216 | transmembrane protein 216 | Disease-causing germline mutation(s) in | gene with protein product | 613277 |
| KIF7 | kinesin family member 7 | Disease-causing germline mutation(s) in | gene with protein product | 611254 |
| CPLANE1 | ciliogenesis and planar polarity effector complex subunit 1 | Disease-causing germline mutation(s) in | gene with protein product | 614571 |
| TCTN3 | tectonic family member 3 | Disease-causing germline mutation(s) in | gene with protein product | 613847 |
| PDE6D | phosphodiesterase 6D | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 602676 |
| TMEM231 | transmembrane protein 231 | Disease-causing germline mutation(s) in | gene with protein product | 614949 |
| TOPORS | TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Disease-causing germline mutation(s) in | gene with protein product | 609507 |
| KIAA0753 | KIAA0753 | Disease-causing germline mutation(s) in | gene with protein product | 617112 |
Фенотипы (HPO)52
Частый (30–79%)34
HP:0000175Cleft palate
HP:0000180Lobulated tongue
HP:0000190Abnormal oral frenulum morphology
HP:0000199Tongue nodules
HP:0000218High palate
HP:0000276Long face
HP:0000286Epicanthus
HP:0000316Hypertelorism
HP:0000347Micrognathia
HP:0000405Conductive hearing impairment
HP:0000455Broad nasal tip
HP:0000565Esotropia
HP:0000639Nystagmus
HP:0001156Brachydactyly
HP:0001159Syndactyly
HP:0001249Intellectual disability
HP:0001251Ataxia
HP:0001252Hypotonia
HP:0001263Global developmental delay
HP:0001288Gait disturbance
HP:0001290Generalized hypotonia
HP:0001508Failure to thrive
HP:0001510Growth delay
HP:0002007Frontal bossing
HP:0002419Molar tooth sign on MRI
HP:0004322Short stature
HP:0004422Biparietal narrowing
HP:0007036Hypoplasia of olfactory tract
HP:0008689Bilateral cryptorchidism
HP:0008872Feeding difficulties in infancy
HP:0011802Hamartoma of tongue
HP:0040019Finger clinodactyly
HP:0100258Preaxial polydactyly
HP:0000358Posteriorly rotated ears
Периодический (5–29%)18
HP:0000104Renal agenesis
HP:0000426Prominent nasal bridge
HP:0001161Hand polydactyly
HP:0001250Seizure
HP:0001320Cerebellar vermis hypoplasia
HP:0001337Tremor
HP:0001627Abnormal heart morphology
HP:0001829Foot polydactyly
HP:0002104Apnea
HP:0002269Abnormality of neuronal migration
HP:0002444Hypothalamic hamartoma
HP:0002553Highly arched eyebrow
HP:0002876Episodic tachypnea
HP:0006145Central Y-shaped metacarpal
HP:0007370Aplasia/Hypoplasia of the corpus callosum
HP:0008678Renal hypoplasia/aplasia
HP:0009084Midline notch of upper alveolar ridge
HP:0100260Mesoaxial polydactyly
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 2 | Worldwide | Family(ies) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)