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Logi sisseKüsiSekveneeri oma genoom↗
Tunnused
Geeniga SMARCA4 seotud tunnused
SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4
Inimese fenotüübi ontoloogia seostab geeniga SMARCA4 85 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.
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Logi sisseKüsiSekveneeri oma genoom↗
AtlasKellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
Abnormality of head or neck
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Abnormally small head | Väga sageli (80–99%) |
| Coarse facial features | Väga sageli (80–99%) |
| Full lower lip | Väga sageli (80–99%) |
| Long eyelashes | Väga sageli (80–99%) |
| Prominent eyelashes | Väga sageli (80–99%) |
| Thick eyebrow | Väga sageli (80–99%) |
| Wide mouth | Väga sageli (80–99%) |
| Abnormal facial shape | Sageli (30–79%) |
| Broad nasal tip | Sageli (30–79%) |
| Broad philtrum | Sageli (30–79%) |
| Cleft palate | Sageli (30–79%) |
| Delayed eruption of teeth | Sageli (30–79%) |
| Depressed nasal bridge | Sageli (30–79%) |
| Drooping upper lip | Sageli (30–79%) |
| Low frontal hairline | Sageli (30–79%) |
| Nasal tip, upturned | Sageli (30–79%) |
| Recurrent colds | Sageli (30–79%) |
| Short nose | Sageli (30–79%) |
| Short philtrum | Sageli (30–79%) |
| Sparse scalp hair | Sageli (30–79%) |
| Thick nasal alae | Sageli (30–79%) |
| Thin red part of the upper lip | Sageli (30–79%) |
| Wide nasal base | Sageli (30–79%) |
| Dandy-Walker malformation | Mõnikord (5–29%) |
| Long philtrum | Mõnikord (5–29%) |
| Narrow nasal bridge | Mõnikord (5–29%) |
| Abnormally large tongue | Pole registreeritud |
| Wide nose | Pole registreeritud |
Abnormality of the nervous system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Global developmental delay | Alati |
| Intellectual disability | Alati |
| Absent speech development | Sageli (30–79%) |
| Agenesis of corpus callosum | Sageli (30–79%) |
| Behavioral abnormality | Sageli (30–79%) |
| Epilepsy | Sageli (30–79%) |
| Intellectual disability, severe | Sageli (30–79%) |
| IQ between 34 and 49 | Sageli (30–79%) |
| Aggressive behavior | Mõnikord (5–29%) |
| Autism spectrum disorder | Mõnikord (5–29%) |
| More active than typical | Mõnikord (5–29%) |
| Oral aversion | Mõnikord (5–29%) |
| Simplified gyral pattern | Mõnikord (5–29%) |
Abnormality of the cardiovascular system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Abnormality of the heart | Sageli (30–79%) |
| An opening in the wall separating the top two chambers of the heart | Mõnikord (5–29%) |
| Hole in heart wall separating two lower heart chambers | Mõnikord (5–29%) |
| Mitral atresia | Mõnikord (5–29%) |
| Narrowing of pulmonic valve | Mõnikord (5–29%) |
| Patent ductus arteriosus | Mõnikord (5–29%) |
| Pulmonary artery atresia | Mõnikord (5–29%) |
| Tetralogy of Fallot | Mõnikord (5–29%) |
Abnormality of the musculoskeletal system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Decreased muscle tone in infant | Sageli (30–79%) |
| Delayed bone maturation | Sageli (30–79%) |
| Double-Jointed | Sageli (30–79%) |
| Low muscle tone | Sageli (30–79%) |
| Scoliosis | Sageli (30–79%) |
| Hernia | Mõnikord (5–29%) |
Abnormality of the genitourinary system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Abnormality of the genitourinary system | Sageli (30–79%) |
| Rhabdoid tumor of the kidney | Sageli (30–79%) |
| Undescended testes | Sageli (30–79%) |
| Horseshoe kidney | Mõnikord (5–29%) |
| Hypospadias | Mõnikord (5–29%) |
Abnormality of the integument
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Excessive hair growth | Alati |
| Small nail | Väga sageli (80–99%) |
| Excessive hairiness | Sageli (30–79%) |
| Small fifth toenail | Sageli (30–79%) |
| Underdeveloped fifth fingernail | Sageli (30–79%) |
Abnormality of limbs
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Short 5th finger | Alati |
| Short little toe bone | Alati |
| Curvature of digit | Sageli (30–79%) |
| Prominent hinge joints | Mõnikord (5–29%) |
Abnormality of the eye
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Cross-eyed | Sageli (30–79%) |
| Drooping upper eyelid | Sageli (30–79%) |
| Visual impairment | Sageli (30–79%) |
| Close sighted | Mõnikord (5–29%) |
Growth abnormality
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Growth delay | Sageli (30–79%) |
| Growth delay as children | Sageli (30–79%) |
| Prenatal growth deficiency | Harva (1–4%) |
| Short stature | Pole registreeritud |
Abnormality of the digestive system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Feeding difficulties | Väga sageli (80–99%) |
| Hepatoblastoma | Harva (1–4%) |
Abnormality of the ear
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Hearing impairment | Alati |
| Otosclerosis | Alati |
Abnormality of the immune system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Aspiration pneumonia | Sageli (30–79%) |
| Recurrent infections | Sageli (30–79%) |
Abnormal tissue mass
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Atypical teratoid/rhabdoid tumor | Sageli (30–79%) |
Abnormality of the endocrine system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Papillary thyroid carcinoma | Harva (1–4%) |
Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.
Allikas
- Inimese fenotüübi ontoloogia, versioon 2026-09-01: geeniga SMARCA4 seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.
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