Trăsături

Trăsături asociate cu PLEC

plectin

Human Phenotype Ontology asociază 137 trăsături cu PLEC, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Abnormal blistering of the skin	Întotdeauna
Absence of part of skin at birth	Întotdeauna
Aplasia cutis congenita on trunk or limbs	Întotdeauna
Hypoplastic dermoepidermal hemidesmosomes	Întotdeauna
Intra-epidermal blistering	Întotdeauna
Itching	Întotdeauna
Lamina lucida cleavage	Întotdeauna
Poor nail formation	Întotdeauna
Stratum basale cleavage	Întotdeauna
Aplasia cutis congenita over the scalp vertex	Foarte des (80–99%)
Congenital localized absence of skin	Foarte des (80–99%)
Hair loss	Foarte des (80–99%)
Hyperconvex fingernails	Foarte des (80–99%)
Skin vesicle	Foarte des (80–99%)
Small fingernail	Foarte des (80–99%)
Absent/small skin	Des (30–79%)
Acral blistering	Des (30–79%)
Fragile skin	Des (30–79%)
Hyperpigmented skin patches	Des (30–79%)
Hypopigmented macule	Des (30–79%)
Open skin sore	Des (30–79%)
Papule	Des (30–79%)
Skin degeneration	Des (30–79%)
Skin erosion	Des (30–79%)
Skin fragility with non-scarring blistering	Des (30–79%)
Focal absence of scalp tissue	Uneori (5–29%)
Milk spot	Uneori (5–29%)
Sunken or indented skin due to damage	Uneori (5–29%)
Abnormality of the skin	Neînregistrat
Absent nails	Neînregistrat
Atypical nail growth	Neînregistrat
Axillary pterygium	Neînregistrat
Overgrowth and curving of toenails	Neînregistrat

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Increased variability in muscle fiber diameter	Întotdeauna
Motheaten muscle fibers	Întotdeauna
Muscle fiber splitting	Întotdeauna
Muscle flaccidity	Foarte des (80–99%)
Muscle tissue disease	Foarte des (80–99%)
Progressive proximal muscle weakness	Foarte des (80–99%)
Axial muscle atrophy	Des (30–79%)
Difficulty walking up stairs	Des (30–79%)
EMG: myopathic abnormalities	Des (30–79%)
Frequent falls	Des (30–79%)
Gowers sign	Des (30–79%)
Muscle degeneration	Des (30–79%)
Abnormality of bone mineral density	Uneori (5–29%)
Fatigable weakness	Uneori (5–29%)
Flexed joint that cannot be straightened	Uneori (5–29%)
Generalized muscle weakness	Uneori (5–29%)
Muscular dystrophy	Uneori (5–29%)
Inability to touch chin to chest	Rar (1–4%)
Arthrogryposis multiplex congenita	Neînregistrat
Excessive inward curvature of lower spine	Neînregistrat
Increased connective tissue	Neînregistrat
Proximal neurogenic muscle weakness	Neînregistrat

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Big calvaria	Întotdeauna
Nasal tip, upturned	Întotdeauna
Oral mucosal blisters	Întotdeauna
Underdeveloped tissue around nostril	Întotdeauna
Cranial defect	Foarte des (80–99%)
Abnormal tooth enamel	Des (30–79%)
Abnormal dentition	Uneori (5–29%)
Bell's palsy	Uneori (5–29%)
Hair loss on scalp from scarring condition	Uneori (5–29%)
Paralysis of both sides of the face	Uneori (5–29%)
Dental cavities	Neînregistrat
Everted eyelid	Neînregistrat
Thin dental enamel	Neînregistrat

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Plantar hyperkeratosis	Întotdeauna
Limb-girdle muscle weakness	Des (30–79%)
Palmoplantar blistering	Des (30–79%)
Pelvic girdle muscle weakness	Des (30–79%)
Thickening of palms and soles	Des (30–79%)
Distal lower limb muscle weakness	Uneori (5–29%)
Finger syndactyly	Uneori (5–29%)
Fused toes	Uneori (5–29%)
Increased size of calf muscles	Uneori (5–29%)
Proximal upper limb muscle hypertrophy	Uneori (5–29%)
Shortening of the achilles tendon	Uneori (5–29%)
Thickening of the outer layer of the skin of the palms and soles	Neînregistrat

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Difficulty finding words	Foarte des (80–99%)
Echoing another person's speech	Foarte des (80–99%)
Inability to speak	Foarte des (80–99%)
Spinal dysraphism	Foarte des (80–99%)
Loss of ability to walk	Des (30–79%)
Motor delay	Des (30–79%)
Absent reflexes	Uneori (5–29%)
Delayed motor skills	Uneori (5–29%)
Global developmental delay	Uneori (5–29%)
Tactile hypersensitivity	Uneori (5–29%)

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Deeply set eye	Întotdeauna
Eye muscle paralysis	Foarte des (80–99%)
Oculomotor nerve palsy	Foarte des (80–99%)
Weakness of muscles controlling eye movement	Foarte des (80–99%)
Drooping upper eyelid	Des (30–79%)
Drooping of both upper eyelids	Uneori (5–29%)
Abnormality of the eye	Neînregistrat
Corneal inflammation	Neînregistrat
Punctate keratitis	Neînregistrat

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Urethrovesical occlusion	Întotdeauna
Urinary tract abnormalities	Des (30–79%)
Absent bladder	Uneori (5–29%)
Glomerular sclerosis	Uneori (5–29%)
Hydronephrosis	Uneori (5–29%)
Renal dysplasia	Uneori (5–29%)
Ureterocele	Uneori (5–29%)
Urethra issue	Uneori (5–29%)
Urethral stricture	Neînregistrat

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Congenital pyloric atresia	Întotdeauna
Abdominal bloating	Des (30–79%)
Vomiting	Des (30–79%)
Extra kidney	Uneori (5–29%)
Poor swallowing	Uneori (5–29%)
Abnormality of the abdominal organs	Neînregistrat
Birth defect in which part of esophagus did not develop	Neînregistrat
Intractable diarrhea	Neînregistrat

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Abnormality of the respiratory system	Rar (1–4%)
Exertional breathlessness	Rar (1–4%)
Partial or complete collapse of part or entire lung	Rar (1–4%)
Pulmonary scarring	Rar (1–4%)
Neonatal respiratory distress	Neînregistrat

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Redness of skin or mucous membrane	Uneori (5–29%)
Abnormality of the cardiovascular system	Rar (1–4%)
Complete right bundle branch block	Rar (1–4%)
Abnormality of the heart	Neînregistrat

Abnormality of blood and blood-forming tissues

Trăsătură	Cât de frecvent apare
Prolonged bleeding time	Uneori (5–29%)
Bruising susceptibility	Neînregistrat
Low number of red blood cells or hemoglobin	Neînregistrat

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Unusual bronchiolitis	Rar (1–4%)
Anti-neuromuscular Junction acetylcholine receptor antibody positivity	Neînregistrat

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Elevated blood creatine phosphokinase	Des (30–79%)
Increased circulating lactate dehydrogenase concentration	Uneori (5–29%)

Abnormality of prenatal development or birth

Trăsătură	Cât de frecvent apare
High levels of amniotic fluid	Foarte des (80–99%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Small ears	Întotdeauna

Abnormality of the voice

Trăsătură	Cât de frecvent apare
Nasal speech	Uneori (5–29%)

Constitutional symptom

Trăsătură	Cât de frecvent apare
Fatigue	Uneori (5–29%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Short stature	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 PLEC și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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