Traits

Traits linked to OBSCN

obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF

The Human Phenotype Ontology links 40 traits to OBSCN, by body system: features seen in people with one of the gene's rare conditions.

Laboratory abnormality

Trait	How often it is seen
Elevated blood creatine phosphokinase	Always
Recurrent myoglobinuria	Always
Dark urine	Very often (80–99%)
Fever	Very often (80–99%)
Highly elevated creatine kinase	Very often (80–99%)
Abnormality of glycolipid metabolism	Often (30–79%)
Elevated circulating aldolase concentration	Often (30–79%)
Exercise-induced myoglobinuria	Often (30–79%)
High liver enzymes	Often (30–79%)
Increased circulating lactate dehydrogenase concentration	Often (30–79%)
High blood phosphate levels	Sometimes (5–29%)
Increased circulating potassium concentration	Sometimes (5–29%)
Low blood calcium levels	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Breakdown of skeletal muscle	Always
Muscle weakness	Very often (80–99%)
Increased variability in muscle fiber diameter	Often (30–79%)
Type 2 muscle fiber atrophy	Often (30–79%)
Viral infection-induced rhabdomyolysis	Often (30–79%)
Centrally nucleated skeletal muscle fibers	Sometimes (5–29%)
Fatigable weakness of swallowing muscles	Sometimes (5–29%)
Muscle spasm	Sometimes (5–29%)
Neck muscle weakness	Sometimes (5–29%)
Type 2 muscle fiber predominance	Sometimes (5–29%)
Weakness of outermost muscles	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Renal failure	Often (30–79%)
Acute kidney injury	Sometimes (5–29%)
Oliguria	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Diminished deep tendon reflex	Often (30–79%)
Abnormal gait	Sometimes (5–29%)
Abnormal speech pattern	Sometimes (5–29%)

Constitutional symptom

Trait	How often it is seen
Muscle ache	Very often (80–99%)
Decreased ability to exercise	Often (30–79%)
Exercise-induced muscle pain	Often (30–79%)

Abnormality of head or neck

Trait	How often it is seen
Abnormality of jaw muscles	Sometimes (5–29%)
Chewing difficulties	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Lower limb muscle weakness	Sometimes (5–29%)
Proximal upper limb muscle weakness	Sometimes (5–29%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Disseminated intravascular coagulation	Rarely (1–4%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormal heart rate	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Muscle inflammation	Often (30–79%)

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 OBSCN and how often each is seen. Find out more at hpo.jax.org.

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