Tunnused

Geeniga PLEC seotud tunnused

plectin

Inimese fenotüübi ontoloogia seostab geeniga PLEC 137 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

Abnormality of the integument

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

Abnormality of the musculoskeletal system

Tunnus	Kui sageli seda täheldatakse
Increased variability in muscle fiber diameter	Alati
Motheaten muscle fibers	Alati
Muscle fiber splitting	Alati
Muscle flaccidity	Väga sageli (80–99%)
Muscle tissue disease	Väga sageli (80–99%)
Progressive proximal muscle weakness	Väga sageli (80–99%)
Axial muscle atrophy	Sageli (30–79%)
Difficulty walking up stairs	Sageli (30–79%)
EMG: myopathic abnormalities	Sageli (30–79%)
Frequent falls	Sageli (30–79%)
Gowers sign	Sageli (30–79%)
Muscle degeneration	Sageli (30–79%)
Abnormality of bone mineral density	Mõnikord (5–29%)
Fatigable weakness	Mõnikord (5–29%)
Flexed joint that cannot be straightened	Mõnikord (5–29%)
Generalized muscle weakness	Mõnikord (5–29%)
Muscular dystrophy	Mõnikord (5–29%)
Inability to touch chin to chest	Harva (1–4%)
Arthrogryposis multiplex congenita	Pole registreeritud
Excessive inward curvature of lower spine	Pole registreeritud
Increased connective tissue	Pole registreeritud
Proximal neurogenic muscle weakness	Pole registreeritud

Abnormality of head or neck

Tunnus	Kui sageli seda täheldatakse
Big calvaria	Alati
Nasal tip, upturned	Alati
Oral mucosal blisters	Alati
Underdeveloped tissue around nostril	Alati
Cranial defect	Väga sageli (80–99%)
Abnormal tooth enamel	Sageli (30–79%)
Abnormal dentition	Mõnikord (5–29%)
Bell's palsy	Mõnikord (5–29%)
Hair loss on scalp from scarring condition	Mõnikord (5–29%)
Paralysis of both sides of the face	Mõnikord (5–29%)
Dental cavities	Pole registreeritud
Everted eyelid	Pole registreeritud
Thin dental enamel	Pole registreeritud

Abnormality of limbs

Tunnus	Kui sageli seda täheldatakse
Plantar hyperkeratosis	Alati
Limb-girdle muscle weakness	Sageli (30–79%)
Palmoplantar blistering	Sageli (30–79%)
Pelvic girdle muscle weakness	Sageli (30–79%)
Thickening of palms and soles	Sageli (30–79%)
Distal lower limb muscle weakness	Mõnikord (5–29%)
Finger syndactyly	Mõnikord (5–29%)
Fused toes	Mõnikord (5–29%)
Increased size of calf muscles	Mõnikord (5–29%)
Proximal upper limb muscle hypertrophy	Mõnikord (5–29%)
Shortening of the achilles tendon	Mõnikord (5–29%)
Thickening of the outer layer of the skin of the palms and soles	Pole registreeritud

Abnormality of the nervous system

Tunnus	Kui sageli seda täheldatakse
Difficulty finding words	Väga sageli (80–99%)
Echoing another person's speech	Väga sageli (80–99%)
Inability to speak	Väga sageli (80–99%)
Spinal dysraphism	Väga sageli (80–99%)
Loss of ability to walk	Sageli (30–79%)
Motor delay	Sageli (30–79%)
Absent reflexes	Mõnikord (5–29%)
Delayed motor skills	Mõnikord (5–29%)
Global developmental delay	Mõnikord (5–29%)
Tactile hypersensitivity	Mõnikord (5–29%)

Abnormality of the eye

Tunnus	Kui sageli seda täheldatakse
Deeply set eye	Alati
Eye muscle paralysis	Väga sageli (80–99%)
Oculomotor nerve palsy	Väga sageli (80–99%)
Weakness of muscles controlling eye movement	Väga sageli (80–99%)
Drooping upper eyelid	Sageli (30–79%)
Drooping of both upper eyelids	Mõnikord (5–29%)
Abnormality of the eye	Pole registreeritud
Corneal inflammation	Pole registreeritud
Punctate keratitis	Pole registreeritud

Abnormality of the genitourinary system

Tunnus	Kui sageli seda täheldatakse
Urethrovesical occlusion	Alati
Urinary tract abnormalities	Sageli (30–79%)
Absent bladder	Mõnikord (5–29%)
Glomerular sclerosis	Mõnikord (5–29%)
Hydronephrosis	Mõnikord (5–29%)
Renal dysplasia	Mõnikord (5–29%)
Ureterocele	Mõnikord (5–29%)
Urethra issue	Mõnikord (5–29%)
Urethral stricture	Pole registreeritud

Abnormality of the digestive system

Tunnus	Kui sageli seda täheldatakse
Congenital pyloric atresia	Alati
Abdominal bloating	Sageli (30–79%)
Vomiting	Sageli (30–79%)
Extra kidney	Mõnikord (5–29%)
Poor swallowing	Mõnikord (5–29%)
Abnormality of the abdominal organs	Pole registreeritud
Birth defect in which part of esophagus did not develop	Pole registreeritud
Intractable diarrhea	Pole registreeritud

Abnormality of the respiratory system

Tunnus	Kui sageli seda täheldatakse
Abnormality of the respiratory system	Harva (1–4%)
Exertional breathlessness	Harva (1–4%)
Partial or complete collapse of part or entire lung	Harva (1–4%)
Pulmonary scarring	Harva (1–4%)
Neonatal respiratory distress	Pole registreeritud

Abnormality of the cardiovascular system

Tunnus	Kui sageli seda täheldatakse
Redness of skin or mucous membrane	Mõnikord (5–29%)
Abnormality of the cardiovascular system	Harva (1–4%)
Complete right bundle branch block	Harva (1–4%)
Abnormality of the heart	Pole registreeritud

Abnormality of blood and blood-forming tissues

Tunnus	Kui sageli seda täheldatakse
Prolonged bleeding time	Mõnikord (5–29%)
Bruising susceptibility	Pole registreeritud
Low number of red blood cells or hemoglobin	Pole registreeritud

Abnormality of the immune system

Tunnus	Kui sageli seda täheldatakse
Unusual bronchiolitis	Harva (1–4%)
Anti-neuromuscular Junction acetylcholine receptor antibody positivity	Pole registreeritud

Laboratory abnormality

Tunnus	Kui sageli seda täheldatakse
Elevated blood creatine phosphokinase	Sageli (30–79%)
Increased circulating lactate dehydrogenase concentration	Mõnikord (5–29%)

Abnormality of prenatal development or birth

Tunnus	Kui sageli seda täheldatakse
High levels of amniotic fluid	Väga sageli (80–99%)

Abnormality of the ear

Tunnus	Kui sageli seda täheldatakse
Small ears	Alati

Abnormality of the voice

Tunnus	Kui sageli seda täheldatakse
Nasal speech	Mõnikord (5–29%)

Constitutional symptom

Tunnus	Kui sageli seda täheldatakse
Fatigue	Mõnikord (5–29%)

Growth abnormality

Tunnus	Kui sageli seda täheldatakse
Short stature	Pole registreeritud

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

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