Traits

Traits linked to PRKACA

protein kinase cAMP-activated catalytic subunit alpha

The Human Phenotype Ontology links 81 traits to PRKACA, by body system: features seen in people with one of the gene's rare conditions.

PRKACA

Abnormality of head or neck

Trait	How often it is seen
Accessory oral frenulum	Always
Abnormal dentition	Very often (80–99%)
Abnormality of lining of mouth	Very often (80–99%)
Abnormal oral frenulum morphology	Often (30–79%)
Cone shaped front tooth	Often (30–79%)
Cone shaped tooth	Often (30–79%)
Decreased size of maxilla	Often (30–79%)
Decreased size of tooth	Often (30–79%)
Failure of development of between one and six teeth	Often (30–79%)
Gap between teeth	Often (30–79%)
Long face	Often (30–79%)
Midface retrusion	Often (30–79%)
Overhanging nasal tip	Often (30–79%)
Short philtrum	Often (30–79%)
Decreased volume of lip	Sometimes (5–29%)
Delayed eruption of teeth	Sometimes (5–29%)
Moon face	Not recorded

Abnormality of limbs

Trait	How often it is seen
Knock knees	Always
Postaxial polydactyly	Always
Duplication of bones of the toes	Very often (80–99%)
Extra finger	Very often (80–99%)
Limb undergrowth	Very often (80–99%)
Short outermost finger bone	Very often (80–99%)
Smaller or shorter than typical limbs	Very often (80–99%)
Capitate-hamate fusion	Often (30–79%)
Fusion of wrist bones	Sometimes (5–29%)
Outward turned elbows	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Abnormal fingernails	Very often (80–99%)
Abnormality of the hair	Very often (80–99%)
Abnormality of the nail	Very often (80–99%)
Atypical nail growth	Very often (80–99%)
Underdeveloped toenails	Very often (80–99%)
Abnormal hair quantity	Sometimes (5–29%)
Buffalo hump	Not recorded
Excessive hairiness	Not recorded
Fragile skin	Not recorded
Hair loss	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormal cardiovascular system morphology	Very often (80–99%)
Abnormal heart valve morphology	Very often (80–99%)
Hole in center of heart	Very often (80–99%)
All organs on wrong side of body	Often (30–79%)
An opening in the wall separating the top two chambers of the heart	Often (30–79%)
Heart tip and four chambers point towards right side of body	Often (30–79%)
Hole in heart wall separating two lower heart chambers	Often (30–79%)
Complete atrioventricular canal defect	Not recorded
High blood pressure	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Narrow chest	Very often (80–99%)
Shorter than typical length between neck and abdomen	Very often (80–99%)
Abnormal shape of pelvic girdle bone	Often (30–79%)
Long rib cage	Often (30–79%)
Abnormality of the skeletal system	Sometimes (5–29%)
Delayed bone maturation	Sometimes (5–29%)
Osteopenia	Not recorded
Osteoporosis	Not recorded
Proximal neurogenic muscle weakness	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Abnormality of the kidney	Often (30–79%)
Abnormality of the ureter	Often (30–79%)
Epispadias	Often (30–79%)
Hypospadias	Often (30–79%)
Undescended testes	Often (30–79%)
Abnormal morphology of female internal genitalia	Sometimes (5–29%)
Absent/small kidney	Sometimes (5–29%)
Hydroureter	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Faltering weight	Very often (80–99%)
Neonatal short-limb short stature	Very often (80–99%)
Prenatal growth deficiency	Often (30–79%)
Increased body weight	Not recorded

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Acute blood cancer	Sometimes (5–29%)
Bone marrow disease	Sometimes (5–29%)
Bruising susceptibility	Not recorded

Abnormality of the endocrine system

Trait	How often it is seen
Enlarged adrenal glands	Not recorded
Increased circulating cortisol level	Not recorded
Primary hypercortisolism	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Intellectual disability	Sometimes (5–29%)
Can't control feelings	Not recorded
Depression	Not recorded

Abnormality of the respiratory system

Trait	How often it is seen
Absent/small lungs	Often (30–79%)
Emphysema	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Cross-eyed	Often (30–79%)

Abnormality of the immune system

Trait	How often it is seen
Acne	Not recorded

Laboratory abnormality

Trait	How often it is seen
Diabetes mellitus	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 PRKACA and how often each is seen. Find out more at hpo.jax.org.

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