Trăsături

Trăsături asociate cu TMEM237

transmembrane protein 237

Human Phenotype Ontology asociază 113 trăsături cu TMEM237, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

TMEM237

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Abnormally small head	Foarte des (80–99%)
Encephalocele	Foarte des (80–99%)
Cleft palate	Des (30–79%)
Decreased width of the skull	Des (30–79%)
Flat nose	Des (30–79%)
Full cheeks	Des (30–79%)
Little lower jaw	Des (30–79%)
Long face	Des (30–79%)
Sloping forehead	Des (30–79%)
Aplasia/Hypoplasia of the tongue	Uneori (5–29%)
Cleft of the mouth	Uneori (5–29%)
Dandy-Walker malformation	Uneori (5–29%)
Grooved tongue	Uneori (5–29%)
Highly arched eyebrow	Uneori (5–29%)
Nasal tip, upturned	Uneori (5–29%)
Prominent nasal bridge	Uneori (5–29%)
Downward slanting of the opening between the eyelids	Neînregistrat
Eye folds	Neînregistrat
High forehead	Neînregistrat
Open mouth	Neînregistrat
Short philtrum	Neînregistrat
Tented mouth	Neînregistrat
Zygomatic flattening	Neînregistrat

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Ataxia	Foarte des (80–99%)
Cerebellar vermis hypoplasia	Foarte des (80–99%)
Global developmental delay	Foarte des (80–99%)
Intellectual disability	Foarte des (80–99%)
Molar tooth sign on MRI	Foarte des (80–99%)
Abnormal gait	Des (30–79%)
Autism spectrum disorder	Des (30–79%)
Behavioral abnormality	Des (30–79%)
Lobar holoprosencephaly	Des (30–79%)
Too much cerebrospinal fluid in the brain	Des (30–79%)
Abnormality of neuronal migration	Uneori (5–29%)
Agenesis of cerebellar vermis	Uneori (5–29%)
Agenesis of corpus callosum	Uneori (5–29%)
Anencephaly	Uneori (5–29%)
Aplasia/Hypoplasia of the corpus callosum	Uneori (5–29%)
Epilepsy	Uneori (5–29%)
Meningocele	Uneori (5–29%)
More grooves in brain	Uneori (5–29%)
Small brainstem	Uneori (5–29%)
Tremor	Uneori (5–29%)
Underdevelopment of part of brain called corpus callosum	Uneori (5–29%)
Intellectual disability, severe	Neînregistrat
Irritability	Neînregistrat

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Breakdown of light-sensitive cells in back of eye	Foarte des (80–99%)
Involuntary, rapid, rhythmic eye movements	Foarte des (80–99%)
Oculomotor apraxia	Foarte des (80–99%)
Abnormal chorioretinal morphology	Des (30–79%)
Abnormally small eyeball	Des (30–79%)
Absent/small iris	Des (30–79%)
Birth defect that causes a hole in the innermost layer at the back of the eye	Des (30–79%)
Blindness	Des (30–79%)
Cat eye	Des (30–79%)
Clouding of the lens of the eye	Des (30–79%)
Cornea of eye less than 10mm in diameter	Des (30–79%)
Cross-eyed	Des (30–79%)
Drooping upper eyelid	Des (30–79%)
Hardening of skin and connective tissue	Des (30–79%)
Optic atrophy	Des (30–79%)
Visual impairment	Des (30–79%)
Wide-set eyes	Des (30–79%)
Absence of eyeballs	Uneori (5–29%)
Cerebral visual impairment	Uneori (5–29%)
Morning glory anomaly	Uneori (5–29%)
Notched pupil	Uneori (5–29%)
Deeply set eye	Neînregistrat

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Cystic kidney disease	Foarte des (80–99%)
Kidney damage	Foarte des (80–99%)
Multicystic kidney dysplasia	Foarte des (80–99%)
Ambiguous external genitalia	Des (30–79%)
Undescended testes	Des (30–79%)
Double ureter	Uneori (5–29%)
Male pseudohermaphroditism	Uneori (5–29%)
Renal failure	Uneori (5–29%)
True hermaphroditism	Uneori (5–29%)
Urethral atresia	Uneori (5–29%)

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Extra little finger	Foarte des (80–99%)
Extra toe attached near the little toe	Foarte des (80–99%)
Talipes	Des (30–79%)
Bowing of the long bones	Uneori (5–29%)
Duplication of bones of the toes	Uneori (5–29%)
Extra finger	Uneori (5–29%)
Extra thumb	Uneori (5–29%)
Postaxial polydactyly	Uneori (5–29%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Excessive buildup of connective tissue and scarring of liver at birth	Foarte des (80–99%)
Feeding difficulties	Des (30–79%)
Feeding difficulties in infancy	Des (30–79%)
Cystic liver disease	Uneori (5–29%)
Enlarged colon lacking nerve cells	Uneori (5–29%)
Pancreatic cysts	Uneori (5–29%)
Pancreatic fibrosis	Uneori (5–29%)

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
High blood pressure	Des (30–79%)
Abnormal cardiovascular system morphology	Uneori (5–29%)
Absent spleen	Uneori (5–29%)
Accessory spleen	Uneori (5–29%)
All organs on wrong side of body	Uneori (5–29%)
Hole in heart wall separating two lower heart chambers	Uneori (5–29%)

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Low muscle tone	Foarte des (80–99%)
Abnormal vertebral body morphology	Uneori (5–29%)
Scoliosis	Uneori (5–29%)
Generalized decreased muscle tone	Neînregistrat

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Abnormal pattern of respiration	Foarte des (80–99%)
Apnea	Foarte des (80–99%)
Episodic tachypnea	Foarte des (80–99%)
Increased respiratory rate or depth of breathing	Foarte des (80–99%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Ears rotated toward back of head	Des (30–79%)
Low-set ears	Uneori (5–29%)

Abnormality of blood and blood-forming tissues

Trăsătură	Cât de frecvent apare
Bleeding within the skull	Uneori (5–29%)

Abnormality of prenatal development or birth

Trăsătură	Cât de frecvent apare
Low levels of amniotic fluid	Des (30–79%)

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Abnormality of the hypothalamus-pituitary axis	Uneori (5–29%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Growth delay	Neînregistrat

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

Human Phenotype Ontology, versiunea 2026-09-01: trăsăturile asociate cu TMEM237 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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