Požymiai

Su LETM1 susiję požymiai

leucine zipper and EF-hand containing transmembrane protein 1

Žmogaus fenotipo ontologija sieja 166 požymių su LETM1, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.

Abnormality of head or neck

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

Abnormality of the nervous system

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

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
Decreased muscle mass	Labai dažnai (80–99%)
Generalized decreased muscle tone	Labai dažnai (80–99%)
Low muscle tone	Labai dažnai (80–99%)
Abnormal vertebral body morphology	Dažnai (30–79%)
Abnormal vertebral morphology	Dažnai (30–79%)
Abnormality of the chest	Dažnai (30–79%)
Abnormality of the vertebral column	Dažnai (30–79%)
Congenital diaphragmatic hernia	Dažnai (30–79%)
Delayed bone maturation	Dažnai (30–79%)
Hunched back	Dažnai (30–79%)
Hypoplastic pubic ramus	Dažnai (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Dažnai (30–79%)
Muscle degeneration	Dažnai (30–79%)
Rib fusion	Dažnai (30–79%)
Rib segmentation abnormalities	Dažnai (30–79%)
Scoliosis	Dažnai (30–79%)
Abnormal formation of the hip	Kartais (5–29%)
Hernia	Kartais (5–29%)
Osteoporosis	Kartais (5–29%)
Abnormal maturation of breastbone	Neužfiksuota
Vertebral fusion	Neužfiksuota

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Visual impairment	Visada
Optic atrophy	Labai dažnai (80–99%)
Wide-set eyes	Labai dažnai (80–99%)
Bulging eye	Dažnai (30–79%)
Cat eye	Dažnai (30–79%)
Clouding of the lens of the eye	Dažnai (30–79%)
Cross-eyed	Dažnai (30–79%)
Drooping upper eyelid	Dažnai (30–79%)
Involuntary, rapid, rhythmic eye movements	Dažnai (30–79%)
Opto-chiasmatic atrophy	Dažnai (30–79%)
Rieger anomaly	Dažnai (30–79%)
Enlarged cornea	Kartais (5–29%)
Glaucoma	Kartais (5–29%)
Hardening of skin and connective tissue	Kartais (5–29%)
Noninflammatory retina disease	Kartais (5–29%)
Displaced pupil	Neužfiksuota

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
Abnormal feet structure	Dažnai (30–79%)
Club feet	Dažnai (30–79%)
Extra thumb	Dažnai (30–79%)
Long slender fingers	Dažnai (30–79%)
Short big toe	Dažnai (30–79%)
Short thumb	Dažnai (30–79%)
Split hand	Dažnai (30–79%)
Preaxial foot polydactyly	Kartais (5–29%)
Single transverse palmar crease	Kartais (5–29%)
Front half of foot turns inward	Neužfiksuota
Fused forearm bones	Neužfiksuota
Hip dislocation	Neužfiksuota
Metacarpal pseudoepiphysis	Neužfiksuota

Abnormality of the ear

Požymis	Kaip dažnai pasireiškia
Ears rotated toward back of head	Labai dažnai (80–99%)
Small ears	Labai dažnai (80–99%)
Abnormally shaped ears	Dažnai (30–79%)
Bilateral sensorineural hearing impairment	Dažnai (30–79%)
Conductive deafness	Dažnai (30–79%)
Hearing impairment	Dažnai (30–79%)
Narrow ear canal	Dažnai (30–79%)
Chronic infections of the middle ear	Kartais (5–29%)
Low-set ears	Kartais (5–29%)
Sensorineural hearing impairment	Kartais (5–29%)

Abnormality of the cardiovascular system

Požymis	Kaip dažnai pasireiškia
Abnormal cardiac septum morphology	Dažnai (30–79%)
Abnormal cardiovascular system morphology	Dažnai (30–79%)
Abnormal heart valve morphology	Dažnai (30–79%)
An opening in the wall separating the top two chambers of the heart	Dažnai (30–79%)
Disease of the heart muscle	Dažnai (30–79%)
Strawberry mark	Dažnai (30–79%)
Fluid around heart	Kartais (5–29%)
Accessory spleen	Neužfiksuota
Hole in heart wall separating two lower heart chambers	Neužfiksuota

Abnormality of the genitourinary system

Požymis	Kaip dažnai pasireiškia
Hypospadias	Labai dažnai (80–99%)
Abnormality of the kidney	Dažnai (30–79%)
Undescended testes	Dažnai (30–79%)
Abnormality of the genitourinary system	Kartais (5–29%)
Abnormality of the reproductive system	Kartais (5–29%)
Absent uterus	Kartais (5–29%)
Streak ovary	Kartais (5–29%)
Urinary tract abnormalities	Kartais (5–29%)

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Faltering weight	Labai dažnai (80–99%)
Growth delay	Labai dažnai (80–99%)
Prenatal growth deficiency	Labai dažnai (80–99%)
Small for gestational age	Labai dažnai (80–99%)
Severe growth delay in children	Dažnai (30–79%)
Short stature	Dažnai (30–79%)
Disproportionate tall stature	Kartais (5–29%)

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Feeding difficulties	Dažnai (30–79%)
Abdominal situs inversus	Kartais (5–29%)
Abnormality of the gallbladder	Kartais (5–29%)
Biliary tract abnormality	Kartais (5–29%)
Acid reflux	Neužfiksuota
Malrotation of small bowel	Neužfiksuota

Abnormality of the integument

Požymis	Kaip dažnai pasireiškia
Dry skin	Dažnai (30–79%)
Focal absence of scalp tissue	Dažnai (30–79%)
Spinal dimple	Dažnai (30–79%)
Hyperconvex fingernails	Neužfiksuota

Laboratory abnormality

Požymis	Kaip dažnai pasireiškia
3-Methylglutaconic aciduria	Dažnai (30–79%)
Higher than normal levels of lactate in blood	Dažnai (30–79%)
Alpha-aminoadipic aciduria	Kartais (5–29%)
Elevated urine acetoacetic acid level	Kartais (5–29%)

Abnormality of the immune system

Požymis	Kaip dažnai pasireiškia
Decreased immune function	Dažnai (30–79%)
Abnormality of the immune system	Kartais (5–29%)
Recurrent respiratory infections	Kartais (5–29%)

Abnormal cellular phenotype

Požymis	Kaip dažnai pasireiškia
Decreased circulating IgA concentration	Dažnai (30–79%)

Abnormality of prenatal development or birth

Požymis	Kaip dažnai pasireiškia
Less than 10 fetal movements in 12 hours	Labai dažnai (80–99%)

Abnormality of the breast

Požymis	Kaip dažnai pasireiškia
Absent/small nipples	Kartais (5–29%)

Abnormality of the endocrine system

Požymis	Kaip dažnai pasireiškia
Early onset of puberty	Neužfiksuota

Abnormality of the respiratory system

Požymis	Kaip dažnai pasireiškia
Absent/small lungs	Dažnai (30–79%)

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 LETM1 susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

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