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Tunnused
Geeniga TMEM237 seotud tunnused
transmembrane protein 237
Inimese fenotüübi ontoloogia seostab geeniga TMEM237 113 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.
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AtlasKellele me abi osutameMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
Abnormality of head or neck
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Abnormally small head | Väga sageli (80–99%) |
| Encephalocele | Väga sageli (80–99%) |
| Cleft palate | Sageli (30–79%) |
| Decreased width of the skull | Sageli (30–79%) |
| Flat nose | Sageli (30–79%) |
| Full cheeks | Sageli (30–79%) |
| Little lower jaw | Sageli (30–79%) |
| Long face | Sageli (30–79%) |
| Sloping forehead | Sageli (30–79%) |
| Aplasia/Hypoplasia of the tongue | Mõnikord (5–29%) |
| Cleft of the mouth | Mõnikord (5–29%) |
| Dandy-Walker malformation | Mõnikord (5–29%) |
| Grooved tongue | Mõnikord (5–29%) |
| Highly arched eyebrow | Mõnikord (5–29%) |
| Nasal tip, upturned | Mõnikord (5–29%) |
| Prominent nasal bridge | Mõnikord (5–29%) |
| Downward slanting of the opening between the eyelids | Pole registreeritud |
| Eye folds | Pole registreeritud |
| High forehead | Pole registreeritud |
| Open mouth | Pole registreeritud |
| Short philtrum | Pole registreeritud |
| Tented mouth | Pole registreeritud |
| Zygomatic flattening | Pole registreeritud |
Abnormality of the nervous system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Ataxia | Väga sageli (80–99%) |
| Cerebellar vermis hypoplasia | Väga sageli (80–99%) |
| Global developmental delay | Väga sageli (80–99%) |
| Intellectual disability | Väga sageli (80–99%) |
| Molar tooth sign on MRI | Väga sageli (80–99%) |
| Abnormal gait | Sageli (30–79%) |
| Autism spectrum disorder | Sageli (30–79%) |
| Behavioral abnormality | Sageli (30–79%) |
| Lobar holoprosencephaly | Sageli (30–79%) |
| Too much cerebrospinal fluid in the brain | Sageli (30–79%) |
| Abnormality of neuronal migration | Mõnikord (5–29%) |
| Agenesis of cerebellar vermis | Mõnikord (5–29%) |
| Agenesis of corpus callosum | Mõnikord (5–29%) |
| Anencephaly | Mõnikord (5–29%) |
| Aplasia/Hypoplasia of the corpus callosum | Mõnikord (5–29%) |
| Epilepsy | Mõnikord (5–29%) |
| Meningocele | Mõnikord (5–29%) |
| More grooves in brain | Mõnikord (5–29%) |
| Small brainstem | Mõnikord (5–29%) |
| Tremor | Mõnikord (5–29%) |
| Underdevelopment of part of brain called corpus callosum | Mõnikord (5–29%) |
| Intellectual disability, severe | Pole registreeritud |
| Irritability | Pole registreeritud |
Abnormality of the eye
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Breakdown of light-sensitive cells in back of eye | Väga sageli (80–99%) |
| Involuntary, rapid, rhythmic eye movements | Väga sageli (80–99%) |
| Oculomotor apraxia | Väga sageli (80–99%) |
| Abnormal chorioretinal morphology | Sageli (30–79%) |
| Abnormally small eyeball | Sageli (30–79%) |
| Absent/small iris | Sageli (30–79%) |
| Birth defect that causes a hole in the innermost layer at the back of the eye | Sageli (30–79%) |
| Blindness | Sageli (30–79%) |
| Cat eye | Sageli (30–79%) |
| Clouding of the lens of the eye | Sageli (30–79%) |
| Cornea of eye less than 10mm in diameter | Sageli (30–79%) |
| Cross-eyed | Sageli (30–79%) |
| Drooping upper eyelid | Sageli (30–79%) |
| Hardening of skin and connective tissue | Sageli (30–79%) |
| Optic atrophy | Sageli (30–79%) |
| Visual impairment | Sageli (30–79%) |
| Wide-set eyes | Sageli (30–79%) |
| Absence of eyeballs | Mõnikord (5–29%) |
| Cerebral visual impairment | Mõnikord (5–29%) |
| Morning glory anomaly | Mõnikord (5–29%) |
| Notched pupil | Mõnikord (5–29%) |
| Deeply set eye | Pole registreeritud |
Abnormality of the genitourinary system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Cystic kidney disease | Väga sageli (80–99%) |
| Kidney damage | Väga sageli (80–99%) |
| Multicystic kidney dysplasia | Väga sageli (80–99%) |
| Ambiguous external genitalia | Sageli (30–79%) |
| Undescended testes | Sageli (30–79%) |
| Double ureter | Mõnikord (5–29%) |
| Male pseudohermaphroditism | Mõnikord (5–29%) |
| Renal failure | Mõnikord (5–29%) |
| True hermaphroditism | Mõnikord (5–29%) |
| Urethral atresia | Mõnikord (5–29%) |
Abnormality of limbs
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Extra little finger | Väga sageli (80–99%) |
| Extra toe attached near the little toe | Väga sageli (80–99%) |
| Talipes | Sageli (30–79%) |
| Bowing of the long bones | Mõnikord (5–29%) |
| Duplication of bones of the toes | Mõnikord (5–29%) |
| Extra finger | Mõnikord (5–29%) |
| Extra thumb | Mõnikord (5–29%) |
| Postaxial polydactyly | Mõnikord (5–29%) |
Abnormality of the digestive system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Excessive buildup of connective tissue and scarring of liver at birth | Väga sageli (80–99%) |
| Feeding difficulties | Sageli (30–79%) |
| Feeding difficulties in infancy | Sageli (30–79%) |
| Cystic liver disease | Mõnikord (5–29%) |
| Enlarged colon lacking nerve cells | Mõnikord (5–29%) |
| Pancreatic cysts | Mõnikord (5–29%) |
| Pancreatic fibrosis | Mõnikord (5–29%) |
Abnormality of the cardiovascular system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| High blood pressure | Sageli (30–79%) |
| Abnormal cardiovascular system morphology | Mõnikord (5–29%) |
| Absent spleen | Mõnikord (5–29%) |
| Accessory spleen | Mõnikord (5–29%) |
| All organs on wrong side of body | Mõnikord (5–29%) |
| Hole in heart wall separating two lower heart chambers | Mõnikord (5–29%) |
Abnormality of the musculoskeletal system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Low muscle tone | Väga sageli (80–99%) |
| Abnormal vertebral body morphology | Mõnikord (5–29%) |
| Scoliosis | Mõnikord (5–29%) |
| Generalized decreased muscle tone | Pole registreeritud |
Abnormality of the respiratory system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Abnormal pattern of respiration | Väga sageli (80–99%) |
| Apnea | Väga sageli (80–99%) |
| Episodic tachypnea | Väga sageli (80–99%) |
| Increased respiratory rate or depth of breathing | Väga sageli (80–99%) |
Abnormality of the ear
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Ears rotated toward back of head | Sageli (30–79%) |
| Low-set ears | Mõnikord (5–29%) |
Abnormality of blood and blood-forming tissues
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Bleeding within the skull | Mõnikord (5–29%) |
Abnormality of prenatal development or birth
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Low levels of amniotic fluid | Sageli (30–79%) |
Abnormality of the endocrine system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Abnormality of the hypothalamus-pituitary axis | Mõnikord (5–29%) |
Growth abnormality
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Growth delay | Pole registreeritud |
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 TMEM237 seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.
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