Microform holoprosencephaly
ORPHA:280200Malformation syndromeMultigenic/multifactorialChildhood, Infancy, Neonatal
Ассоциированные гены16
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| FGFR1 | fibroblast growth factor receptor 1 | Candidate gene tested in | gene with protein product | 136350 |
| SUFU | SUFU negative regulator of hedgehog signaling | Candidate gene tested in | gene with protein product | 607035 |
| PTCH1 | patched 1 | Disease-causing germline mutation(s) in | gene with protein product | 601309 |
| 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 |
| SHH | sonic hedgehog signaling molecule | Disease-causing germline mutation(s) in | gene with protein product | 600725 |
Фенотипы (HPO)35
Очень частый (80–99%)3
HP:0000453Choanal atresia
HP:0006315Single median maxillary incisor
HP:0010644Midnasal stenosis
Частый (30–79%)9
HP:0000252Microcephaly
HP:0000322Short philtrum
HP:0000446Narrow nasal bridge
HP:0000601Hypotelorism
HP:0001249Intellectual disability
HP:0001511Intrauterine growth retardation
HP:0001622Premature birth
HP:0004322Short stature
HP:0010804Tented upper lip vermilion
Периодический (5–29%)23
HP:0000062Ambiguous genitalia
HP:0000104Renal agenesis
HP:0000175Cleft palate
HP:0000202Orofacial cleft
HP:0000463Anteverted nares
HP:0000486Strabismus
HP:0000612Iris coloboma
HP:0000821Hypothyroidism
HP:0000871Panhypopituitarism
HP:0001028Hemangioma
HP:0001250Seizure
HP:0001274Agenesis of corpus callosum
HP:0001360Holoprosencephaly
HP:0001636Tetralogy of Fallot
HP:0002099Asthma
HP:0002247Duodenal atresia
HP:0002650Scoliosis
HP:0003196Short nose
HP:0003458EMG: myopathic abnormalities
HP:0008736Hypoplasia of penis
HP:0009800Maternal diabetes
HP:0009914Cyclopia
HP:0030680Abnormal cardiovascular system morphology
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)