Tunnused

Geeniga LETM1 seotud tunnused

leucine zipper and EF-hand containing transmembrane protein 1

Inimese fenotüübi ontoloogia seostab geeniga LETM1 166 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

Abnormality of head or neck

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

Abnormality of the nervous system

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

Abnormality of the musculoskeletal system

Tunnus	Kui sageli seda täheldatakse
Decreased muscle mass	Väga sageli (80–99%)
Generalized decreased muscle tone	Väga sageli (80–99%)
Low muscle tone	Väga sageli (80–99%)
Abnormal vertebral body morphology	Sageli (30–79%)
Abnormal vertebral morphology	Sageli (30–79%)
Abnormality of the chest	Sageli (30–79%)
Abnormality of the vertebral column	Sageli (30–79%)
Congenital diaphragmatic hernia	Sageli (30–79%)
Delayed bone maturation	Sageli (30–79%)
Hunched back	Sageli (30–79%)
Hypoplastic pubic ramus	Sageli (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Sageli (30–79%)
Muscle degeneration	Sageli (30–79%)
Rib fusion	Sageli (30–79%)
Rib segmentation abnormalities	Sageli (30–79%)
Scoliosis	Sageli (30–79%)
Abnormal formation of the hip	Mõnikord (5–29%)
Hernia	Mõnikord (5–29%)
Osteoporosis	Mõnikord (5–29%)
Abnormal maturation of breastbone	Pole registreeritud
Vertebral fusion	Pole registreeritud

Abnormality of the eye

Tunnus	Kui sageli seda täheldatakse
Visual impairment	Alati
Optic atrophy	Väga sageli (80–99%)
Wide-set eyes	Väga sageli (80–99%)
Bulging eye	Sageli (30–79%)
Cat eye	Sageli (30–79%)
Clouding of the lens of the eye	Sageli (30–79%)
Cross-eyed	Sageli (30–79%)
Drooping upper eyelid	Sageli (30–79%)
Involuntary, rapid, rhythmic eye movements	Sageli (30–79%)
Opto-chiasmatic atrophy	Sageli (30–79%)
Rieger anomaly	Sageli (30–79%)
Enlarged cornea	Mõnikord (5–29%)
Glaucoma	Mõnikord (5–29%)
Hardening of skin and connective tissue	Mõnikord (5–29%)
Noninflammatory retina disease	Mõnikord (5–29%)
Displaced pupil	Pole registreeritud

Abnormality of limbs

Tunnus	Kui sageli seda täheldatakse
Abnormal feet structure	Sageli (30–79%)
Club feet	Sageli (30–79%)
Extra thumb	Sageli (30–79%)
Long slender fingers	Sageli (30–79%)
Short big toe	Sageli (30–79%)
Short thumb	Sageli (30–79%)
Split hand	Sageli (30–79%)
Preaxial foot polydactyly	Mõnikord (5–29%)
Single transverse palmar crease	Mõnikord (5–29%)
Front half of foot turns inward	Pole registreeritud
Fused forearm bones	Pole registreeritud
Hip dislocation	Pole registreeritud
Metacarpal pseudoepiphysis	Pole registreeritud

Abnormality of the ear

Tunnus	Kui sageli seda täheldatakse
Ears rotated toward back of head	Väga sageli (80–99%)
Small ears	Väga sageli (80–99%)
Abnormally shaped ears	Sageli (30–79%)
Bilateral sensorineural hearing impairment	Sageli (30–79%)
Conductive deafness	Sageli (30–79%)
Hearing impairment	Sageli (30–79%)
Narrow ear canal	Sageli (30–79%)
Chronic infections of the middle ear	Mõnikord (5–29%)
Low-set ears	Mõnikord (5–29%)
Sensorineural hearing impairment	Mõnikord (5–29%)

Abnormality of the cardiovascular system

Tunnus	Kui sageli seda täheldatakse
Abnormal cardiac septum morphology	Sageli (30–79%)
Abnormal cardiovascular system morphology	Sageli (30–79%)
Abnormal heart valve morphology	Sageli (30–79%)
An opening in the wall separating the top two chambers of the heart	Sageli (30–79%)
Disease of the heart muscle	Sageli (30–79%)
Strawberry mark	Sageli (30–79%)
Fluid around heart	Mõnikord (5–29%)
Accessory spleen	Pole registreeritud
Hole in heart wall separating two lower heart chambers	Pole registreeritud

Abnormality of the genitourinary system

Tunnus	Kui sageli seda täheldatakse
Hypospadias	Väga sageli (80–99%)
Abnormality of the kidney	Sageli (30–79%)
Undescended testes	Sageli (30–79%)
Abnormality of the genitourinary system	Mõnikord (5–29%)
Abnormality of the reproductive system	Mõnikord (5–29%)
Absent uterus	Mõnikord (5–29%)
Streak ovary	Mõnikord (5–29%)
Urinary tract abnormalities	Mõnikord (5–29%)

Growth abnormality

Tunnus	Kui sageli seda täheldatakse
Faltering weight	Väga sageli (80–99%)
Growth delay	Väga sageli (80–99%)
Prenatal growth deficiency	Väga sageli (80–99%)
Small for gestational age	Väga sageli (80–99%)
Severe growth delay in children	Sageli (30–79%)
Short stature	Sageli (30–79%)
Disproportionate tall stature	Mõnikord (5–29%)

Abnormality of the digestive system

Tunnus	Kui sageli seda täheldatakse
Feeding difficulties	Sageli (30–79%)
Abdominal situs inversus	Mõnikord (5–29%)
Abnormality of the gallbladder	Mõnikord (5–29%)
Biliary tract abnormality	Mõnikord (5–29%)
Acid reflux	Pole registreeritud
Malrotation of small bowel	Pole registreeritud

Abnormality of the integument

Tunnus	Kui sageli seda täheldatakse
Dry skin	Sageli (30–79%)
Focal absence of scalp tissue	Sageli (30–79%)
Spinal dimple	Sageli (30–79%)
Hyperconvex fingernails	Pole registreeritud

Laboratory abnormality

Tunnus	Kui sageli seda täheldatakse
3-Methylglutaconic aciduria	Sageli (30–79%)
Higher than normal levels of lactate in blood	Sageli (30–79%)
Alpha-aminoadipic aciduria	Mõnikord (5–29%)
Elevated urine acetoacetic acid level	Mõnikord (5–29%)

Abnormality of the immune system

Tunnus	Kui sageli seda täheldatakse
Decreased immune function	Sageli (30–79%)
Abnormality of the immune system	Mõnikord (5–29%)
Recurrent respiratory infections	Mõnikord (5–29%)

Abnormal cellular phenotype

Tunnus	Kui sageli seda täheldatakse
Decreased circulating IgA concentration	Sageli (30–79%)

Abnormality of prenatal development or birth

Tunnus	Kui sageli seda täheldatakse
Less than 10 fetal movements in 12 hours	Väga sageli (80–99%)

Abnormality of the breast

Tunnus	Kui sageli seda täheldatakse
Absent/small nipples	Mõnikord (5–29%)

Abnormality of the endocrine system

Tunnus	Kui sageli seda täheldatakse
Early onset of puberty	Pole registreeritud

Abnormality of the respiratory system

Tunnus	Kui sageli seda täheldatakse
Absent/small lungs	Sageli (30–79%)

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 LETM1 seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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