Trăsături

Trăsături asociate cu LETM1

leucine zipper and EF-hand containing transmembrane protein 1

Human Phenotype Ontology asociază 166 trăsături cu LETM1, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Abnormal lip	Foarte des (80–99%)
Abnormality of the mouth	Foarte des (80–99%)
Abnormality of the philtrum	Foarte des (80–99%)
Abnormally small head	Foarte des (80–99%)
Downturned corners of mouth	Foarte des (80–99%)
Downward slanting of the opening between the eyelids	Foarte des (80–99%)
Eye folds	Foarte des (80–99%)
Failure of development of between one and six teeth	Foarte des (80–99%)
Frontal bossing	Foarte des (80–99%)
High forehead	Foarte des (80–99%)
High frontal hairline	Foarte des (80–99%)
Highly arched eyebrow	Foarte des (80–99%)
Little lower jaw	Foarte des (80–99%)
Long, narrow head	Foarte des (80–99%)
Low hairline at back of neck	Foarte des (80–99%)
Short philtrum	Foarte des (80–99%)
Wide nasal bridge	Foarte des (80–99%)
Abnormality of craniofacial shape	Des (30–79%)
Beaked nose	Des (30–79%)
Cleft of the mouth	Des (30–79%)
Cleft upper lip	Des (30–79%)
Cranial defect	Des (30–79%)
Delayed eruption of teeth	Des (30–79%)
Pit in front of the ear	Des (30–79%)
Prominent area between the eyebrows	Des (30–79%)
Short upper lip	Des (30–79%)
Skin tag in front of the ear	Des (30–79%)
Taurodontia	Des (30–79%)
Cleft palate	Uneori (5–29%)
High palate	Uneori (5–29%)
Long face	Uneori (5–29%)
Narrow forehead	Uneori (5–29%)
Webbed neck	Uneori (5–29%)

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Ataxia	Foarte des (80–99%)
EEG abnormality	Foarte des (80–99%)
Epilepsy	Foarte des (80–99%)
Global developmental delay	Foarte des (80–99%)
Intellectual disability	Foarte des (80–99%)
Intellectual disability, severe	Foarte des (80–99%)
Babinski sign	Des (30–79%)
Brisk reflexes	Des (30–79%)
Cerebellar vermis hypoplasia	Des (30–79%)
Difficulty sleeping	Des (30–79%)
Hyperactive movements	Des (30–79%)
Inability to coordinate movements when walking	Des (30–79%)
Loss of ability to walk	Des (30–79%)
Loss of developmental milestones	Des (30–79%)
Morphological central nervous system abnormality	Des (30–79%)
Peripheral neuropathy	Des (30–79%)
Repetitive movements	Des (30–79%)
Tethered cord	Des (30–79%)
Abnormality of movement	Uneori (5–29%)
Absent/small cerebellum	Uneori (5–29%)
Agenesis of corpus callosum	Uneori (5–29%)
Degeneration of cerebellum	Uneori (5–29%)
Too much cerebrospinal fluid in the brain	Uneori (5–29%)
Absent septum pellucidum	Neînregistrat
Cavum septum pellucidum	Neînregistrat
Periventricular cysts	Neînregistrat
Ventriculomegaly	Neînregistrat

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Decreased muscle mass	Foarte des (80–99%)
Generalized decreased muscle tone	Foarte des (80–99%)
Low muscle tone	Foarte des (80–99%)
Abnormal vertebral body morphology	Des (30–79%)
Abnormal vertebral morphology	Des (30–79%)
Abnormality of the chest	Des (30–79%)
Abnormality of the vertebral column	Des (30–79%)
Congenital diaphragmatic hernia	Des (30–79%)
Delayed bone maturation	Des (30–79%)
Hunched back	Des (30–79%)
Hypoplastic pubic ramus	Des (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Des (30–79%)
Muscle degeneration	Des (30–79%)
Rib fusion	Des (30–79%)
Rib segmentation abnormalities	Des (30–79%)
Scoliosis	Des (30–79%)
Abnormal formation of the hip	Uneori (5–29%)
Hernia	Uneori (5–29%)
Osteoporosis	Uneori (5–29%)
Abnormal maturation of breastbone	Neînregistrat
Vertebral fusion	Neînregistrat

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Visual impairment	Întotdeauna
Optic atrophy	Foarte des (80–99%)
Wide-set eyes	Foarte des (80–99%)
Bulging eye	Des (30–79%)
Cat eye	Des (30–79%)
Clouding of the lens of the eye	Des (30–79%)
Cross-eyed	Des (30–79%)
Drooping upper eyelid	Des (30–79%)
Involuntary, rapid, rhythmic eye movements	Des (30–79%)
Opto-chiasmatic atrophy	Des (30–79%)
Rieger anomaly	Des (30–79%)
Enlarged cornea	Uneori (5–29%)
Glaucoma	Uneori (5–29%)
Hardening of skin and connective tissue	Uneori (5–29%)
Noninflammatory retina disease	Uneori (5–29%)
Displaced pupil	Neînregistrat

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Abnormal feet structure	Des (30–79%)
Club feet	Des (30–79%)
Extra thumb	Des (30–79%)
Long slender fingers	Des (30–79%)
Short big toe	Des (30–79%)
Short thumb	Des (30–79%)
Split hand	Des (30–79%)
Preaxial foot polydactyly	Uneori (5–29%)
Single transverse palmar crease	Uneori (5–29%)
Front half of foot turns inward	Neînregistrat
Fused forearm bones	Neînregistrat
Hip dislocation	Neînregistrat
Metacarpal pseudoepiphysis	Neînregistrat

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Ears rotated toward back of head	Foarte des (80–99%)
Small ears	Foarte des (80–99%)
Abnormally shaped ears	Des (30–79%)
Bilateral sensorineural hearing impairment	Des (30–79%)
Conductive deafness	Des (30–79%)
Hearing impairment	Des (30–79%)
Narrow ear canal	Des (30–79%)
Chronic infections of the middle ear	Uneori (5–29%)
Low-set ears	Uneori (5–29%)
Sensorineural hearing impairment	Uneori (5–29%)

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Abnormal cardiac septum morphology	Des (30–79%)
Abnormal cardiovascular system morphology	Des (30–79%)
Abnormal heart valve morphology	Des (30–79%)
An opening in the wall separating the top two chambers of the heart	Des (30–79%)
Disease of the heart muscle	Des (30–79%)
Strawberry mark	Des (30–79%)
Fluid around heart	Uneori (5–29%)
Accessory spleen	Neînregistrat
Hole in heart wall separating two lower heart chambers	Neînregistrat

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Hypospadias	Foarte des (80–99%)
Abnormality of the kidney	Des (30–79%)
Undescended testes	Des (30–79%)
Abnormality of the genitourinary system	Uneori (5–29%)
Abnormality of the reproductive system	Uneori (5–29%)
Absent uterus	Uneori (5–29%)
Streak ovary	Uneori (5–29%)
Urinary tract abnormalities	Uneori (5–29%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Faltering weight	Foarte des (80–99%)
Growth delay	Foarte des (80–99%)
Prenatal growth deficiency	Foarte des (80–99%)
Small for gestational age	Foarte des (80–99%)
Severe growth delay in children	Des (30–79%)
Short stature	Des (30–79%)
Disproportionate tall stature	Uneori (5–29%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Feeding difficulties	Des (30–79%)
Abdominal situs inversus	Uneori (5–29%)
Abnormality of the gallbladder	Uneori (5–29%)
Biliary tract abnormality	Uneori (5–29%)
Acid reflux	Neînregistrat
Malrotation of small bowel	Neînregistrat

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Dry skin	Des (30–79%)
Focal absence of scalp tissue	Des (30–79%)
Spinal dimple	Des (30–79%)
Hyperconvex fingernails	Neînregistrat

Laboratory abnormality

Trăsătură	Cât de frecvent apare
3-Methylglutaconic aciduria	Des (30–79%)
Higher than normal levels of lactate in blood	Des (30–79%)
Alpha-aminoadipic aciduria	Uneori (5–29%)
Elevated urine acetoacetic acid level	Uneori (5–29%)

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Decreased immune function	Des (30–79%)
Abnormality of the immune system	Uneori (5–29%)
Recurrent respiratory infections	Uneori (5–29%)

Abnormal cellular phenotype

Trăsătură	Cât de frecvent apare
Decreased circulating IgA concentration	Des (30–79%)

Abnormality of prenatal development or birth

Trăsătură	Cât de frecvent apare
Less than 10 fetal movements in 12 hours	Foarte des (80–99%)

Abnormality of the breast

Trăsătură	Cât de frecvent apare
Absent/small nipples	Uneori (5–29%)

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Early onset of puberty	Neînregistrat

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Absent/small lungs	Des (30–79%)

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 LETM1 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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