Alobar holoprosencephaly
ORPHA:93925Clinical subtypeMultigenic/multifactorial, Not applicableInfancy, Neonatal
Ассоциированные гены17
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| STIL | STIL centriolar assembly protein | Disease-causing germline mutation(s) in | gene with protein product | 181590 |
| PLCH1 | phospholipase C eta 1 | Disease-causing germline mutation(s) in | gene with protein product | 612835 |
| STAG2 | STAG2 cohesin complex component | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 300826 |
| PTCH1 | patched 1 | Disease-causing germline mutation(s) in | gene with protein product | 601309 |
| SHH | sonic hedgehog signaling molecule | Disease-causing germline mutation(s) in | gene with protein product | 600725 |
| SIX3 | SIX homeobox 3 | Disease-causing germline mutation(s) in | gene with protein product | 603714 |
| TGIF1 | TGFB induced factor homeobox 1 | Disease-causing germline mutation(s) in | gene with protein product | 602630 |
| ZIC2 | Zic family zinc finger 2 | Disease-causing germline mutation(s) in | gene with protein product | 603073 |
| GLI2 | GLI family zinc finger 2 | Disease-causing germline mutation(s) in | gene with protein product | 165230 |
| CRIPTO | cripto, EGF-CFC family member | Disease-causing germline mutation(s) in | gene with protein product | 187395 |
| FOXH1 | forkhead box H1 | Disease-causing germline mutation(s) in | gene with protein product | 603621 |
| FGF8 | fibroblast growth factor 8 | Disease-causing germline mutation(s) in | gene with protein product | 600483 |
| DISP1 | dispatched RND transporter family member 1 | Disease-causing germline mutation(s) in | gene with protein product | 607502 |
| CDON | cell adhesion associated, oncogene regulated | Disease-causing germline mutation(s) in | gene with protein product | 608707 |
| NODAL | nodal growth differentiation factor | Disease-causing germline mutation(s) in | gene with protein product | 601265 |
| DLL1 | delta like canonical Notch ligand 1 | Disease-causing germline mutation(s) in | gene with protein product | 606582 |
| GAS1 | growth arrest specific 1 | Disease-causing germline mutation(s) in | gene with protein product | 139185 |
Фенотипы (HPO)72
Очень частый (80–99%)7
HP:0000478Abnormality of the eye
HP:0000601Hypotelorism
HP:0001508Failure to thrive
HP:0001510Growth delay
HP:0002033Poor suck
HP:0004322Short stature
HP:0011968Feeding difficulties
Частый (30–79%)41
HP:0000161Median cleft lip
HP:0000175Cleft palate
HP:0000193Bifid uvula
HP:0000218High palate
HP:0000252Microcephaly
HP:0000407Sensorineural hearing impairment
HP:0000457Depressed nasal ridge
HP:0000708Atypical behavior
HP:0000716Depression
HP:0000737Irritability
HP:0000739Anxiety
HP:0000741Apathy
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001254Lethargy
HP:0001257Spasticity
HP:0001328Specific learning disability
HP:0001344Absent speech
HP:0002013Vomiting
HP:0002015Dysphagia
HP:0002019Constipation
HP:0002020Gastroesophageal reflux
HP:0002270Abnormality of the autonomic nervous system
HP:0002363Abnormal brainstem morphology
HP:0002451Limb dystonia
HP:0002540Inability to walk
HP:0002793Abnormal pattern of respiration
HP:0002871Central apnea
HP:0005968Temperature instability
HP:0006528Chronic lung disease
HP:0006979Sleep-wake cycle disturbance
HP:0007018Attention deficit hyperactivity disorder
HP:0007301Oromotor apraxia
HP:0008947Floppy infant
HP:0010654Aplasia of the falx cerebri
HP:0011442Abnormality of central motor function
HP:0011951Aspiration pneumonia
HP:0012285Abnormal hypothalamus physiology
HP:0040327Abnormal morphology of the olfactory bulb
HP:0045005Neural tube defect
HP:0100704Cerebral visual impairment
Периодический (5–29%)24
HP:0008936Axial hypotonia
HP:0001371Flexion contracture
HP:0001627Abnormal heart morphology
HP:0002465Poor speech
HP:0002650Scoliosis
HP:0002827Hip dislocation
HP:0006315Single median maxillary incisor
HP:0009914Cyclopia
HP:0009932Single naris
HP:0011471Gastrostomy tube feeding in infancy
HP:0011787Central hypothyroidism
HP:0012718Morphological abnormality of the gastrointestinal tract
HP:0012806Proboscis
HP:0031860Abnormal heart rate variability
HP:0040064Abnormality of limbs
HP:0000119Abnormality of the genitourinary system
HP:0000238Hydrocephalus
HP:0000256Macrocephaly
HP:0000818Abnormality of the endocrine system
HP:0000824Decreased response to growth hormone stimulation test
HP:0000871Panhypopituitarism
HP:0000873Diabetes insipidus
HP:0000924Abnormality of the skeletal system
HP:0001274Agenesis of corpus callosum
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)