Traits

Traits linked to GGPS1

geranylgeranyl diphosphate synthase 1

The Human Phenotype Ontology links 19 traits to GGPS1, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the musculoskeletal system

Trait	How often it is seen
Centrally nucleated skeletal muscle fibers	Always
Progressive muscle weakness	Always
Rimmed vacuoles	Always
Scoliosis	Often (30–79%)
Skeletal muscle autophagosome accumulation	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Early menopause	Always
Female infertility	Always

Abnormality of the nervous system

Trait	How often it is seen
Motor delay	Always
Loss of ability to walk	Often (30–79%)

Abnormality of the respiratory system

Trait	How often it is seen
Respiratory function loss	Very often (80–99%)
Reduced forced vital capacity	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Faltering weight	Often (30–79%)
Short stature	Often (30–79%)

Abnormal cellular phenotype

Trait	How often it is seen
Mitochondrial hypertrophy	Sometimes (5–29%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Less than 10 fetal movements in 12 hours	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Poor suck	Not recorded

Abnormality of the ear

Trait	How often it is seen
Sensorineural hearing impairment	Very often (80–99%)

Abnormality of the voice

Trait	How often it is seen
Weak cry	Not recorded

Laboratory abnormality

Trait	How often it is seen
Elevated blood creatine phosphokinase	Always

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 GGPS1 and how often each is seen. Find out more at hpo.jax.org.

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