Tunnused

Geeniga COL6A1 seotud tunnused

collagen type VI alpha 1 chain

Inimese fenotüübi ontoloogia seostab geeniga COL6A1 102 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

COL6A1

Abnormality of the musculoskeletal system

Tunnus	Kui sageli seda täheldatakse
Axial muscle weakness	Alati
Centrally nucleated skeletal muscle fibers	Alati
Difficulty walking up stairs	Alati
Distal lower limb amyotrophy	Alati
Double-Jointed	Alati
Elbow contracture	Alati
EMG: myopathic abnormalities	Alati
Fatty replacement of skeletal muscle	Alati
Fiber type grouping	Alati
Muscle fiber necrosis	Alati
Neck muscle weakness	Alati
Proximal neurogenic muscle weakness	Alati
Reduced spine movement	Alati
Abnormal muscle fiber morphology	Väga sageli (80–99%)
Flexed joint that cannot be straightened	Väga sageli (80–99%)
Generalized muscle weakness	Väga sageli (80–99%)
Hunched back	Väga sageli (80–99%)
Increased endomysial connective tissue	Väga sageli (80–99%)
Increased variability in muscle fiber diameter	Väga sageli (80–99%)
Increased wrist mobility	Väga sageli (80–99%)
Muscle weakness	Väga sageli (80–99%)
Muscular dystrophy	Väga sageli (80–99%)
Progressive proximal muscle weakness	Väga sageli (80–99%)
Reduced muscle collagen VI	Väga sageli (80–99%)
Scoliosis	Väga sageli (80–99%)
Difficulty running	Sageli (30–79%)
Diffuse skeletal muscle wasting	Sageli (30–79%)
Frequent falls	Sageli (30–79%)
Generalized decreased muscle tone	Sageli (30–79%)
Multiple joint contractures	Sageli (30–79%)
Weak diaphragm	Sageli (30–79%)
Weakness of outermost muscles	Sageli (30–79%)
Excessive inward curvature of lower spine	Mõnikord (5–29%)
Gowers sign	Mõnikord (5–29%)
Reduced maximal expiratory pressure	Mõnikord (5–29%)
Rimmed vacuoles	Mõnikord (5–29%)
Decreased lung function due to weak breathing muscles	Pole registreeritud
Distal joint hypermobility	Pole registreeritud
Low muscle tone, in neonatal onset	Pole registreeritud
Muscle degeneration	Pole registreeritud
Muscle tissue disease	Pole registreeritud
Type 1 muscle fiber predominance	Pole registreeritud

Abnormality of limbs

Tunnus	Kui sageli seda täheldatakse
High-arched foot	Alati
Shoulder girdle muscle wasting	Alati
Increased laxity of fingers	Väga sageli (80–99%)
Ankle contracture	Sageli (30–79%)
Ankle flexion contracture	Sageli (30–79%)
Elbow flexion contracture	Sageli (30–79%)
Finger joint contracture	Sageli (30–79%)
Hip dislocation	Sageli (30–79%)
Inability to straighten knee	Sageli (30–79%)
Interphalangeal joint contracture of finger	Sageli (30–79%)
Inward turned thumb	Sageli (30–79%)
Limb-girdle muscle weakness	Sageli (30–79%)
Long toe	Sageli (30–79%)
Permanent flexion of the finger	Sageli (30–79%)
Pes valgus	Sageli (30–79%)
Quadriceps weakness	Sageli (30–79%)
Slender finger	Sageli (30–79%)
Wrist flexion contracture	Sageli (30–79%)
Curved toe bone	Mõnikord (5–29%)
Foot drop	Mõnikord (5–29%)
Shortening of the achilles tendon	Mõnikord (5–29%)
Winged shoulder blade	Mõnikord (5–29%)
Ankle hypermobility	Pole registreeritud
Club feet	Pole registreeritud

Abnormality of head or neck

Tunnus	Kui sageli seda täheldatakse
Abnormality of the palate	Väga sageli (80–99%)
Little lower jaw	Sageli (30–79%)
Short neck	Sageli (30–79%)
Wry neck	Sageli (30–79%)
Bell's palsy	Pole registreeritud
Congenital muscular torticollis	Pole registreeritud
High palate	Pole registreeritud
Round face	Pole registreeritud

Abnormality of the integument

Tunnus	Kui sageli seda täheldatakse
Chicken skin	Alati
Follicular hyperkeratosis	Alati
Cigarette-paper scars	Mõnikord (5–29%)
Hyperkeratosis	Mõnikord (5–29%)
Excessive sweating	Pole registreeritud

Abnormality of the nervous system

Tunnus	Kui sageli seda täheldatakse
Absent reflexes	Alati
Motor delay	Alati
Toe walking	Alati
Abnormal gait	Sageli (30–79%)
Waddling gait	Mõnikord (5–29%)

Abnormality of the respiratory system

Tunnus	Kui sageli seda täheldatakse
Respiratory failure	Sageli (30–79%)
Abnormality of the respiratory system	Mõnikord (5–29%)
Slow breathing	Mõnikord (5–29%)
Nocturnal hypoventilation	Pole registreeritud
Respiratory function loss	Pole registreeritud

Laboratory abnormality

Tunnus	Kui sageli seda täheldatakse
Bloody urine	Alati
High urine protein levels	Alati
Elevated blood creatine phosphokinase	Väga sageli (80–99%)
Increased muscle lipid content	Sageli (30–79%)
Mildly elevated creatine kinase	Sageli (30–79%)

Growth abnormality

Tunnus	Kui sageli seda täheldatakse
Faltering weight	Pole registreeritud
Slender build	Pole registreeritud

Abnormality of prenatal development or birth

Tunnus	Kui sageli seda täheldatakse
Less than 10 fetal movements in 12 hours	Alati

Abnormality of the cardiovascular system

Tunnus	Kui sageli seda täheldatakse
Abnormality of the cardiovascular system	Pole registreeritud

Abnormality of the digestive system

Tunnus	Kui sageli seda täheldatakse
Feeding difficulties in infancy	Pole registreeritud

Abnormality of the ear

Tunnus	Kui sageli seda täheldatakse
Prominent ear	Pole registreeritud

Abnormality of the eye

Tunnus	Kui sageli seda täheldatakse
Inward turning cross eyed	Sageli (30–79%)

Abnormality of the immune system

Tunnus	Kui sageli seda täheldatakse
Recurrent chest infections	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 COL6A1 seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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