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PrisijungtiKlaustiSekvenuokite savo genomą↗
Požymiai
Su TMEM237 susiję požymiai
transmembrane protein 237
Žmogaus fenotipo ontologija sieja 113 požymių su TMEM237, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.
AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
Abnormality of head or neck
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Abnormally small head | Labai dažnai (80–99%) |
| Encephalocele | Labai dažnai (80–99%) |
| Cleft palate | Dažnai (30–79%) |
| Decreased width of the skull | Dažnai (30–79%) |
| Flat nose | Dažnai (30–79%) |
| Full cheeks | Dažnai (30–79%) |
| Little lower jaw | Dažnai (30–79%) |
| Long face | Dažnai (30–79%) |
| Sloping forehead | Dažnai (30–79%) |
| Aplasia/Hypoplasia of the tongue | Kartais (5–29%) |
| Cleft of the mouth | Kartais (5–29%) |
| Dandy-Walker malformation | Kartais (5–29%) |
| Grooved tongue | Kartais (5–29%) |
| Highly arched eyebrow | Kartais (5–29%) |
| Nasal tip, upturned | Kartais (5–29%) |
| Prominent nasal bridge | Kartais (5–29%) |
| Downward slanting of the opening between the eyelids | Neužfiksuota |
| Eye folds | Neužfiksuota |
| High forehead | Neužfiksuota |
| Open mouth | Neužfiksuota |
| Short philtrum | Neužfiksuota |
| Tented mouth | Neužfiksuota |
| Zygomatic flattening | Neužfiksuota |
Abnormality of the nervous system
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Ataxia | Labai dažnai (80–99%) |
| Cerebellar vermis hypoplasia | Labai dažnai (80–99%) |
| Global developmental delay | Labai dažnai (80–99%) |
| Intellectual disability | Labai dažnai (80–99%) |
| Molar tooth sign on MRI | Labai dažnai (80–99%) |
| Abnormal gait | Dažnai (30–79%) |
| Autism spectrum disorder | Dažnai (30–79%) |
| Behavioral abnormality | Dažnai (30–79%) |
| Lobar holoprosencephaly | Dažnai (30–79%) |
| Too much cerebrospinal fluid in the brain | Dažnai (30–79%) |
| Abnormality of neuronal migration | Kartais (5–29%) |
| Agenesis of cerebellar vermis | Kartais (5–29%) |
| Agenesis of corpus callosum | Kartais (5–29%) |
| Anencephaly | Kartais (5–29%) |
| Aplasia/Hypoplasia of the corpus callosum | Kartais (5–29%) |
| Epilepsy | Kartais (5–29%) |
| Meningocele | Kartais (5–29%) |
| More grooves in brain | Kartais (5–29%) |
| Small brainstem | Kartais (5–29%) |
| Tremor | Kartais (5–29%) |
| Underdevelopment of part of brain called corpus callosum | Kartais (5–29%) |
| Intellectual disability, severe | Neužfiksuota |
| Irritability | Neužfiksuota |
Abnormality of the eye
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Breakdown of light-sensitive cells in back of eye | Labai dažnai (80–99%) |
| Involuntary, rapid, rhythmic eye movements | Labai dažnai (80–99%) |
| Oculomotor apraxia | Labai dažnai (80–99%) |
| Abnormal chorioretinal morphology | Dažnai (30–79%) |
| Abnormally small eyeball | Dažnai (30–79%) |
| Absent/small iris | Dažnai (30–79%) |
| Birth defect that causes a hole in the innermost layer at the back of the eye | Dažnai (30–79%) |
| Blindness | Dažnai (30–79%) |
| Cat eye | Dažnai (30–79%) |
| Clouding of the lens of the eye | Dažnai (30–79%) |
| Cornea of eye less than 10mm in diameter | Dažnai (30–79%) |
| Cross-eyed | Dažnai (30–79%) |
| Drooping upper eyelid | Dažnai (30–79%) |
| Hardening of skin and connective tissue | Dažnai (30–79%) |
| Optic atrophy | Dažnai (30–79%) |
| Visual impairment | Dažnai (30–79%) |
| Wide-set eyes | Dažnai (30–79%) |
| Absence of eyeballs | Kartais (5–29%) |
| Cerebral visual impairment | Kartais (5–29%) |
| Morning glory anomaly | Kartais (5–29%) |
| Notched pupil | Kartais (5–29%) |
| Deeply set eye | Neužfiksuota |
Abnormality of the genitourinary system
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Cystic kidney disease | Labai dažnai (80–99%) |
| Kidney damage | Labai dažnai (80–99%) |
| Multicystic kidney dysplasia | Labai dažnai (80–99%) |
| Ambiguous external genitalia | Dažnai (30–79%) |
| Undescended testes | Dažnai (30–79%) |
| Double ureter | Kartais (5–29%) |
| Male pseudohermaphroditism | Kartais (5–29%) |
| Renal failure | Kartais (5–29%) |
| True hermaphroditism | Kartais (5–29%) |
| Urethral atresia | Kartais (5–29%) |
Abnormality of limbs
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Extra little finger | Labai dažnai (80–99%) |
| Extra toe attached near the little toe | Labai dažnai (80–99%) |
| Talipes | Dažnai (30–79%) |
| Bowing of the long bones | Kartais (5–29%) |
| Duplication of bones of the toes | Kartais (5–29%) |
| Extra finger | Kartais (5–29%) |
| Extra thumb | Kartais (5–29%) |
| Postaxial polydactyly | Kartais (5–29%) |
Abnormality of the digestive system
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Excessive buildup of connective tissue and scarring of liver at birth | Labai dažnai (80–99%) |
| Feeding difficulties | Dažnai (30–79%) |
| Feeding difficulties in infancy | Dažnai (30–79%) |
| Cystic liver disease | Kartais (5–29%) |
| Enlarged colon lacking nerve cells | Kartais (5–29%) |
| Pancreatic cysts | Kartais (5–29%) |
| Pancreatic fibrosis | Kartais (5–29%) |
Abnormality of the cardiovascular system
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| High blood pressure | Dažnai (30–79%) |
| Abnormal cardiovascular system morphology | Kartais (5–29%) |
| Absent spleen | Kartais (5–29%) |
| Accessory spleen | Kartais (5–29%) |
| All organs on wrong side of body | Kartais (5–29%) |
| Hole in heart wall separating two lower heart chambers | Kartais (5–29%) |
Abnormality of the musculoskeletal system
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Low muscle tone | Labai dažnai (80–99%) |
| Abnormal vertebral body morphology | Kartais (5–29%) |
| Scoliosis | Kartais (5–29%) |
| Generalized decreased muscle tone | Neužfiksuota |
Abnormality of the respiratory system
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Abnormal pattern of respiration | Labai dažnai (80–99%) |
| Apnea | Labai dažnai (80–99%) |
| Episodic tachypnea | Labai dažnai (80–99%) |
| Increased respiratory rate or depth of breathing | Labai dažnai (80–99%) |
Abnormality of the ear
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Ears rotated toward back of head | Dažnai (30–79%) |
| Low-set ears | Kartais (5–29%) |
Abnormality of blood and blood-forming tissues
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Bleeding within the skull | Kartais (5–29%) |
Abnormality of prenatal development or birth
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Low levels of amniotic fluid | Dažnai (30–79%) |
Abnormality of the endocrine system
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Abnormality of the hypothalamus-pituitary axis | Kartais (5–29%) |
Growth abnormality
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Growth delay | Neužfiksuota |
Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.
Iš kur tai žinoma
- Žmogaus fenotipo ontologija, 2026-09-01 leidimas: su TMEM237 susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.
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PrisijungtiKlaustiSekvenuokite savo genomą↗
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