Septopreoptic holoprosencephaly
ORPHA:280195Clinical subtypeMultigenic/multifactorialInfancy, Neonatal
Ассоциированные гены15
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| STIL | STIL centriolar assembly protein | Disease-causing germline mutation(s) in | gene with protein product | 181590 |
| 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)24
Частый (30–79%)13
HP:0000826Precocious puberty
HP:0000830Anterior hypopituitarism
HP:0000863Central diabetes insipidus
HP:0001249Intellectual disability
HP:0001273Abnormal corpus callosum morphology
HP:0001290Generalized hypotonia
HP:0001328Specific learning disability
HP:0002418Abnormality of midbrain morphology
HP:0002474Expressive language delay
HP:0003468Abnormal vertebral morphology
HP:0100710Impulsivity
HP:0000736Short attention span
HP:0000772Abnormal rib morphology
Периодический (5–29%)11
HP:0000252Microcephaly
HP:0001355Megalencephaly
HP:0001545Anteriorly placed anus
HP:0001680Coarctation of aorta
HP:0002015Dysphagia
HP:0007330Frontoethmoidal encephalocele
HP:0007375Abnormality of the septum pellucidum
HP:0011471Gastrostomy tube feeding in infancy
HP:0012110Hypoplasia of the pons
HP:0012650Perisylvian polymicrogyria
HP:0031913Rhombencephalosynapsis
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)