Požymiai

Su KLHL41 susiję požymiai

kelch like family member 41

Žmogaus fenotipo ontologija sieja 100 požymių su KLHL41, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.

KLHL41

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
EMG: myopathic abnormalities	Labai dažnai (80–99%)
Generalized muscle weakness	Labai dažnai (80–99%)
Muscle tissue disease	Labai dažnai (80–99%)
Severely decreased muscle tone	Labai dažnai (80–99%)
Abnormality of the chest	Dažnai (30–79%)
Axial muscle weakness	Dažnai (30–79%)
Fatigable weakness of distal limb muscles	Dažnai (30–79%)
Flexed joint that cannot be straightened	Dažnai (30–79%)
Generalized muscle wasting	Dažnai (30–79%)
Increased connective tissue	Dažnai (30–79%)
Increased variability in muscle fiber diameter	Dažnai (30–79%)
Low muscle tone, in neonatal onset	Dažnai (30–79%)
Multiple fractures present at birth	Dažnai (30–79%)
Muscle degeneration	Dažnai (30–79%)
Muscle stiffness	Dažnai (30–79%)
Neck flexion weakness	Dažnai (30–79%)
Reduced spine movement	Dažnai (30–79%)
Type 1 muscle fiber predominance	Dažnai (30–79%)
Abnormality of the diaphragm	Kartais (5–29%)
Arthrogryposis multiplex congenita	Kartais (5–29%)
Decreased lung function due to weak breathing muscles	Kartais (5–29%)
Fatigable weakness of bulbar muscles	Kartais (5–29%)
Fatigable weakness of respiratory muscles	Kartais (5–29%)
Fatiguable weakness of proximal limb muscles	Kartais (5–29%)
Funnel chest	Kartais (5–29%)
Generalized decreased muscle tone	Kartais (5–29%)
Narrow chest	Kartais (5–29%)
Neck muscle weakness	Kartais (5–29%)
Prominent swayback	Kartais (5–29%)
Scoliosis	Kartais (5–29%)
Thin ribs	Kartais (5–29%)
Hunched back	Retai (1–4 %)
Muscle weakness	Neužfiksuota

Abnormality of head or neck

Požymis	Kaip dažnai pasireiškia
Bell's palsy	Dažnai (30–79%)
High palate	Dažnai (30–79%)
Myopathic facies	Dažnai (30–79%)
Cleft palate	Kartais (5–29%)
Facial diplegia	Kartais (5–29%)
High, narrow palate	Kartais (5–29%)
Little lower jaw	Kartais (5–29%)
Long face	Kartais (5–29%)
Long philtrum	Kartais (5–29%)
Narrow face	Kartais (5–29%)
Short neck	Kartais (5–29%)
Wide fontanelles	Kartais (5–29%)

Abnormality of the nervous system

Požymis	Kaip dažnai pasireiškia
Abnormal gait	Dažnai (30–79%)
Clumsiness	Dažnai (30–79%)
Decreased muscle movement	Dažnai (30–79%)
Decreased reflex response	Dažnai (30–79%)
Motor delay	Dažnai (30–79%)
Slow movements	Dažnai (30–79%)
Absent reflexes	Kartais (5–29%)
Bulbar signs	Kartais (5–29%)
Falls	Kartais (5–29%)
Tremor	Kartais (5–29%)
Waddling gait	Kartais (5–29%)
Poor fine motor coordination	Neužfiksuota

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
Foot drop	Dažnai (30–79%)
Limb muscle weakness	Dažnai (30–79%)
Limb-girdle muscle weakness	Dažnai (30–79%)
Club feet	Kartais (5–29%)
High-arched foot	Kartais (5–29%)
Hip dislocation	Kartais (5–29%)
Inward turned thumb	Kartais (5–29%)
Knock knees	Kartais (5–29%)
Outward bow-leggedness	Kartais (5–29%)
Winged shoulder blade	Kartais (5–29%)

Abnormality of the respiratory system

Požymis	Kaip dažnai pasireiškia
Breathing difficulties	Dažnai (30–79%)
Respiratory failure	Dažnai (30–79%)
Respiratory function loss	Dažnai (30–79%)
Nocturnal hypoventilation	Kartais (5–29%)
Poorly developed lungs	Kartais (5–29%)
Reduced vital capacity	Kartais (5–29%)

Abnormality of prenatal development or birth

Požymis	Kaip dažnai pasireiškia
Feet or buttocks of fetus positioned near opening of uterus	Dažnai (30–79%)
High levels of amniotic fluid	Dažnai (30–79%)
Less than 10 fetal movements in 12 hours	Dažnai (30–79%)
Fetal akinesia sequence	Kartais (5–29%)
Premature birth	Kartais (5–29%)

Abnormality of the cardiovascular system

Požymis	Kaip dažnai pasireiškia
Disease of the heart muscle	Kartais (5–29%)
Enlarged heart	Kartais (5–29%)
Heart stops beating	Kartais (5–29%)
Hole in heart wall separating two lower heart chambers	Kartais (5–29%)
Stretched and thinned heart muscle	Kartais (5–29%)

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Neuromuscular dysphagia	Dažnai (30–79%)
Poor swallowing	Dažnai (30–79%)
Feeding difficulties	Kartais (5–29%)
Feeding difficulties in infancy	Kartais (5–29%)

Laboratory abnormality

Požymis	Kaip dažnai pasireiškia
Increased muscle lipid content	Dažnai (30–79%)
Edema of the dorsum of hands	Kartais (5–29%)
Elevated blood creatine phosphokinase	Kartais (5–29%)
Mildly elevated creatine kinase	Kartais (5–29%)

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Drooping upper eyelid	Kartais (5–29%)
Eye muscle paralysis	Kartais (5–29%)
Wide-set eyes	Kartais (5–29%)

Abnormality of the genitourinary system

Požymis	Kaip dažnai pasireiškia
Hypospadias	Kartais (5–29%)
Short penis	Kartais (5–29%)

Abnormal cellular phenotype

Požymis	Kaip dažnai pasireiškia
Nemaline bodies	Labai dažnai (80–99%)

Abnormality of the ear

Požymis	Kaip dažnai pasireiškia
Low-set ears	Kartais (5–29%)

Constitutional symptom

Požymis	Kaip dažnai pasireiškia
Decreased ability to exercise	Dažnai (30–79%)

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Slender build	Kartais (5–29%)

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 KLHL41 susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

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