Traits

Traits linked to MVK

mevalonate kinase

The Human Phenotype Ontology links 96 traits to MVK, by body system: features seen in people with one of the gene's rare conditions.

MVK

Abnormality of the nervous system

Trait	How often it is seen
Ataxia	Always
Degeneration of cerebellum	Always
Global developmental delay	Always
Decrease in size of the outer layer of the brain due to loss of brain cells	Very often (80–99%)
Epilepsy	Very often (80–99%)
Intellectual disability	Very often (80–99%)
Difficulty articulating speech	Often (30–79%)
Headache	Often (30–79%)
Migraine	Often (30–79%)
Febrile seizure (within the age range of 3 months to 6 years)	Sometimes (5–29%)
Agenesis of cerebellar vermis	Not recorded
Degeneration of cerebrum	Not recorded
Progressive cerebellar ataxia	Not recorded

Abnormality of the integument

Trait	How often it is seen
Absent/small skin	Very often (80–99%)
Hyperkeratosis	Very often (80–99%)
Porokeratosis	Very often (80–99%)
Itching	Often (30–79%)
Papule	Often (30–79%)
Photosensitive skin	Often (30–79%)
Persistent blue color of hands or feet	Sometimes (5–29%)
Poor nail formation	Sometimes (5–29%)
Squamous cell carcinoma	Sometimes (5–29%)
Parakeratosis	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Very often (80–99%)
Downward slanting of the opening between the eyelids	Very often (80–99%)
Long, narrow head	Very often (80–99%)
Triangular face	Very often (80–99%)
Wide fontanelles	Very often (80–99%)
Mouth sore	Often (30–79%)
Recurrent canker sores	Often (30–79%)
Underdeveloped tissue around nostril	Often (30–79%)
Chronic oral thrush	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Enlarged liver and spleen	Always
Narrowing of blood vessels in back of eye	Always
Increased spleen size	Very often (80–99%)
Inflammation of the lymph nodes	Very often (80–99%)
Swollen lymph nodes	Very often (80–99%)
Hives	Often (30–79%)
Inflammation of blood vessel	Often (30–79%)
Redness of skin or mucous membrane	Sometimes (5–29%)
Fluctuating splenomegaly	Not recorded

Laboratory abnormality

Trait	How often it is seen
Elevated blood creatine phosphokinase	Always
Elevated urine mevalonic acid level	Always
Episodic fever	Always
High ESR	Always
High liver enzymes	Always
Increased circulating lactate dehydrogenase concentration	Always
Elevated circulating C-reactive protein concentration	Often (30–79%)
Fluid retention	Often (30–79%)
Elevated urinary D-glyceric acid level	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Abdominal pain	Very often (80–99%)
Diarrhea	Very often (80–99%)
Enlarged liver	Very often (80–99%)
Chronic diarrhea	Often (30–79%)
Vomiting	Often (30–79%)
Intestinal obstruction	Sometimes (5–29%)
Peritonitis	Sometimes (5–29%)
Fluctuating hepatomegaly	Not recorded

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Elevated white blood count	Always
Low number of red blood cells or hemoglobin	Always
Gastrointestinal bleeding	Very often (80–99%)
Blood spots	Sometimes (5–29%)
Increased blood neutrophil counts	Not recorded
Low platelet count	Not recorded
Normocytic hypoplastic anemia	Not recorded

Abnormality of the eye

Trait	How often it is seen
Clouding of the lens of the eye	Always
Blue outer white part of eyeball	Often (30–79%)
Optic disc pallor	Often (30–79%)
Yellowish cloudy center of lens	Often (30–79%)
Rod-cone dystrophy	Sometimes (5–29%)
Difficulties with night vision	Not recorded
Involuntary, rapid, rhythmic eye movements	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Always
Delayed bone maturation	Very often (80–99%)
Arthritis	Often (30–79%)
Kyphoscoliosis	Often (30–79%)
Limitation of joint mobility	Sometimes (5–29%)
Generalized decreased muscle tone	Not recorded

Abnormality of the immune system

Trait	How often it is seen
Recurrent infections	Always
Skin rash	Always
Serositis	Sometimes (5–29%)
Unusual molluscum contagiosum	Sometimes (5–29%)
Morbilliform rash	Not recorded

Growth abnormality

Trait	How often it is seen
Faltering weight in infancy	Always
Short stature	Always
Growth delay	Sometimes (5–29%)
Faltering weight	Not recorded

Abnormality of the ear

Trait	How often it is seen
Ears rotated toward back of head	Often (30–79%)
Dizziness	Not recorded
Low-set ears	Not recorded

Constitutional symptom

Trait	How often it is seen
Joint pain	Very often (80–99%)
Muscle ache	Very often (80–99%)
Chills	Often (30–79%)

Abnormal cellular phenotype

Trait	How often it is seen
Increased circulating IgA concentration	Very often (80–99%)
Increased circulating IgD concentration	Very often (80–99%)

Abnormality of the genitourinary system

Trait	How often it is seen
Renal angiomyolipoma	Sometimes (5–29%)

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

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