Traits

Traits linked to COL6A1

collagen type VI alpha 1 chain

The Human Phenotype Ontology links 102 traits to COL6A1, by body system: features seen in people with one of the gene's rare conditions.

COL6A1

Abnormality of the musculoskeletal system

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

Abnormality of limbs

Trait	How often it is seen
High-arched foot	Always
Shoulder girdle muscle wasting	Always
Increased laxity of fingers	Very often (80–99%)
Ankle contracture	Often (30–79%)
Ankle flexion contracture	Often (30–79%)
Elbow flexion contracture	Often (30–79%)
Finger joint contracture	Often (30–79%)
Hip dislocation	Often (30–79%)
Inability to straighten knee	Often (30–79%)
Interphalangeal joint contracture of finger	Often (30–79%)
Inward turned thumb	Often (30–79%)
Limb-girdle muscle weakness	Often (30–79%)
Long toe	Often (30–79%)
Permanent flexion of the finger	Often (30–79%)
Pes valgus	Often (30–79%)
Quadriceps weakness	Often (30–79%)
Slender finger	Often (30–79%)
Wrist flexion contracture	Often (30–79%)
Curved toe bone	Sometimes (5–29%)
Foot drop	Sometimes (5–29%)
Shortening of the achilles tendon	Sometimes (5–29%)
Winged shoulder blade	Sometimes (5–29%)
Ankle hypermobility	Not recorded
Club feet	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Abnormality of the palate	Very often (80–99%)
Little lower jaw	Often (30–79%)
Short neck	Often (30–79%)
Wry neck	Often (30–79%)
Bell's palsy	Not recorded
Congenital muscular torticollis	Not recorded
High palate	Not recorded
Round face	Not recorded

Abnormality of the integument

Trait	How often it is seen
Chicken skin	Always
Follicular hyperkeratosis	Always
Cigarette-paper scars	Sometimes (5–29%)
Hyperkeratosis	Sometimes (5–29%)
Excessive sweating	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Absent reflexes	Always
Motor delay	Always
Toe walking	Always
Abnormal gait	Often (30–79%)
Waddling gait	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Respiratory failure	Often (30–79%)
Abnormality of the respiratory system	Sometimes (5–29%)
Slow breathing	Sometimes (5–29%)
Nocturnal hypoventilation	Not recorded
Respiratory function loss	Not recorded

Laboratory abnormality

Trait	How often it is seen
Bloody urine	Always
High urine protein levels	Always
Elevated blood creatine phosphokinase	Very often (80–99%)
Increased muscle lipid content	Often (30–79%)
Mildly elevated creatine kinase	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Faltering weight	Not recorded
Slender build	Not recorded

Abnormality of prenatal development or birth

Trait	How often it is seen
Less than 10 fetal movements in 12 hours	Always

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormality of the cardiovascular system	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties in infancy	Not recorded

Abnormality of the ear

Trait	How often it is seen
Prominent ear	Not recorded

Abnormality of the eye

Trait	How often it is seen
Inward turning cross eyed	Often (30–79%)

Abnormality of the immune system

Trait	How often it is seen
Recurrent chest infections	Not recorded

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the traits linked to COL6A1 and how often each is seen. Find out more at hpo.jax.org.

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