Traits

Traits linked to PRKAR1A

protein kinase cAMP-dependent type I regulatory subunit alpha

The Human Phenotype Ontology links 250 traits to PRKAR1A, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of head or neck

Trait	How often it is seen
Darkening of skin of the lips	Always
Decreased size of maxilla	Always
Lip freckle	Always
Midface retrusion	Always
Moon face	Always
Palatine myxoma	Always
Depressed nasal bridge	Very often (80–99%)
Flat nose	Very often (80–99%)
Open mouth	Very often (80–99%)
Short nose	Very often (80–99%)
Wide nasal bridge	Very often (80–99%)
Big lower jaw	Often (30–79%)
Broad head shape	Often (30–79%)
Corners of eye widely separated	Often (30–79%)
Delayed eruption of teeth	Often (30–79%)
Frontal bossing	Often (30–79%)
Nasal tip, upturned	Often (30–79%)
Prominent forehead	Often (30–79%)
Abnormal hard palate morphology	Sometimes (5–29%)
Eye folds	Sometimes (5–29%)
Eyelid nodules	Sometimes (5–29%)
Flat face	Sometimes (5–29%)
Gum enlargement	Sometimes (5–29%)
Inflammation of the mouth	Sometimes (5–29%)
Neoplasm of the pharynx	Sometimes (5–29%)
Open bite	Sometimes (5–29%)
Paranasal sinus neoplasm	Sometimes (5–29%)
Tongue nodules	Sometimes (5–29%)
Bad bite	Not recorded
Broad nasal tip	Not recorded
Failure of development of between one and six teeth	Not recorded
Overgrowth of skullcap	Not recorded
Round face	Not recorded

Abnormality of the endocrine system

Trait	How often it is seen
Adrenocortical carcinoma	Always
Adrenocorticotropic hormone deficiency	Always
Decreased growth hormone responses to growth hormone-releasing hormone challenge	Always
Increased circulating cortisol level	Always
Low thyroid gland function due to abnormal pituitary gland	Always
Macronodular adrenal hyperplasia	Always
Pigmented micronodular adrenocortical disease	Always
Abnormal circulating dehydroepiandrosterone concentration	Often (30–79%)
Decreased circulating dehydroepiandrosterone concentration	Often (30–79%)
Elevated circulating thyroid-stimulating hormone concentration	Often (30–79%)
Elevated plasma aldosterone	Often (30–79%)
Elevated serum 11-deoxycortisol	Often (30–79%)
Euthyroid multinodular goiter	Often (30–79%)
Growth hormone excess	Often (30–79%)
Increased circulating androgen concentration	Often (30–79%)
Increased circulating androstenedione concentration	Often (30–79%)
Increased circulating insulin-like growth factor 1 concentration	Often (30–79%)
Increased circulating prolactin concentration	Often (30–79%)
Increased serum estradiol	Often (30–79%)
Increased testosterone	Often (30–79%)
Paradoxical increased cortisol secretion on dexamethasone suppression test	Often (30–79%)
Pituitary growth hormone cell adenoma	Often (30–79%)
Underactive thyroid gland from birth	Often (30–79%)
Decreased activity of gonads	Sometimes (5–29%)
Early onset of puberty	Rarely (1–4%)
Follicular thyroid carcinoma	Rarely (1–4%)
Papillary thyroid carcinoma	Rarely (1–4%)
Thyroid carcinoma	Rarely (1–4%)
Decreased circulating ACTH concentration	Not recorded
Noncancerous tumor in pituitary gland	Not recorded
Pheochromocytoma	Not recorded
Primary hypercortisolism	Not recorded
Thyroid follicular hyperplasia	Not recorded

Abnormality of limbs

Trait	How often it is seen
Cone-shaped end part of finger bones	Always
Short finger bones	Always
Short fingers or toes	Always
Short long bone of foot	Always
Short palm	Always
Shortened long bone of hand	Always
Abnormal shape of long bones of hand	Very often (80–99%)
Short toe	Very often (80–99%)
Abnormal morphology of the radius	Often (30–79%)
Abnormal morphology of ulna	Often (30–79%)
Abnormal shape of shaft of long bone	Often (30–79%)
Abnormality of the thighbone	Often (30–79%)
Abnormality of the wide portion of a long bone	Often (30–79%)
Bowing of the long bones	Often (30–79%)
Cone-shaped end part of long bone	Often (30–79%)
Coxa valga	Often (30–79%)
Outward bow-leggedness	Often (30–79%)
Smaller or shorter than typical limbs	Often (30–79%)
Underdeveloped inner large forearm bone	Often (30–79%)
Underdeveloped outer large forearm bone	Often (30–79%)
Fluid accumulation in lower limbs	Sometimes (5–29%)
Broad palm	Not recorded
Dislocated radial head	Not recorded
Long big toe	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Abnormal female external genitalia	Often (30–79%)
Abnormality of reproductive system physiology	Often (30–79%)
Absent kidney on one side	Often (30–79%)
Gonadal neoplasm	Often (30–79%)
Ovarian cyst	Often (30–79%)
Sertoli cell neoplasm	Often (30–79%)
Testicular cancer	Often (30–79%)
Undescended testes	Often (30–79%)
Abnormal morphology of female internal genitalia	Sometimes (5–29%)
Abnormal sperm motility	Sometimes (5–29%)
Decreased fertility in males	Sometimes (5–29%)
Large testis	Sometimes (5–29%)
Leydig cell neoplasia	Sometimes (5–29%)
Low sperm count	Sometimes (5–29%)
Menstrual irregularity	Sometimes (5–29%)
Ovarian carcinoma	Sometimes (5–29%)
Ovarian dermoid cyst	Sometimes (5–29%)
Ovarian serous cystadenoma	Sometimes (5–29%)
Previous menstrual periods stop	Sometimes (5–29%)
Testicular adrenal rest tumor	Sometimes (5–29%)
Abnormal uterus bleeding	Rarely (1–4%)

Abnormality of the integument

Trait	How often it is seen
Buffalo hump	Always
Cutaneous myxoma	Always
Dermal translucency	Always
Stretch marks	Always
Thin skin	Always
Abnormality of the nail	Very often (80–99%)
Atypical nevi in non-sun exposed areas	Often (30–79%)
Blue nevus	Often (30–79%)
Excessive hair growth	Often (30–79%)
Excessive sweating	Often (30–79%)
Liver spots	Often (30–79%)
Multiple birthmarks	Often (30–79%)
Spotty increased pigmentation	Often (30–79%)
Beauty mark	Sometimes (5–29%)
Excessive hairiness	Sometimes (5–29%)
Abnormal skin pigmentation	Not recorded
Freckling	Not recorded
Mole	Not recorded
Myxoid subcutaneous tumors	Not recorded
Red hair	Not recorded

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Bleeding gums	Often (30–79%)
Bleeding tendency	Often (30–79%)
Blood spots	Often (30–79%)
Bloody nose	Often (30–79%)
Bone marrow hypercellularity	Often (30–79%)
Bruising susceptibility	Often (30–79%)
Decreased blood leukocyte number	Often (30–79%)
Disseminated intravascular coagulation	Often (30–79%)
Ecchymosis	Often (30–79%)
Low blood cell count	Often (30–79%)
Low number of red blood cells or hemoglobin	Often (30–79%)
Low platelet count	Often (30–79%)
Petechiae	Often (30–79%)
Diffuse alveolar hemorrhage	Sometimes (5–29%)
Elevated white blood count	Sometimes (5–29%)
Hypofibrinogenemia	Sometimes (5–29%)
Low blood neutrophil count	Sometimes (5–29%)
Oral cavity bleeding	Sometimes (5–29%)
Thromboembolism	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Advanced bone age	Always
Speckled calcifications in end part of bone	Always
Abnormal vertebral body morphology	Very often (80–99%)
Cone-shaped end part of bone	Very often (80–99%)
Joint dislocation	Often (30–79%)
Muscle weakness	Often (30–79%)
Narrow spinal canal	Often (30–79%)
Narrow vertebral interpedicular distance	Often (30–79%)
Tired easily	Often (30–79%)
Bone pain	Sometimes (5–29%)
Enchondroma	Sometimes (5–29%)
Scoliosis	Sometimes (5–29%)
Hunched back	Not recorded
Osteopenia	Not recorded
Osteoporosis	Not recorded
Speckled calcifications in bone end parts in neonates	Not recorded
Underdeveloped back bones	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Mild global developmental delay	Always
Pauses in breathing while sleeping	Always
Intellectual disability	Very often (80–99%)
Anxiety	Often (30–79%)
Irritability	Often (30–79%)
Panic attack	Often (30–79%)
Peripheral neuropathy	Often (30–79%)
Addictive alcohol use	Sometimes (5–29%)
Behavioral abnormality	Sometimes (5–29%)
Schwannoma	Sometimes (5–29%)
Agitation	Not recorded
Can't control feelings	Not recorded
Depression	Not recorded
Mental deterioration	Not recorded
Psychosis	Not recorded
Too much cerebrospinal fluid in the brain	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Cardiac myxoma	Always
High blood pressure	Always
Ventricular septal hypertrophy	Always
Heart murmur	Very often (80–99%)
Pulmonic valve myxoma	Very often (80–99%)
Palpitations	Often (30–79%)
Bacterial endocarditis	Sometimes (5–29%)
Cardiac failure	Sometimes (5–29%)
Enlarged heart	Sometimes (5–29%)
Stroke	Sometimes (5–29%)
Swollen lymph nodes	Sometimes (5–29%)
Tricuspid regurgitation	Sometimes (5–29%)
Aneurysm	Rarely (1–4%)
Brain aneurysm	Rarely (1–4%)

Growth abnormality

Trait	How often it is seen
Abdominal obesity	Always
Short stature	Very often (80–99%)
Acral overgrowth	Often (30–79%)
Increased body weight	Often (30–79%)
Small for gestational age	Often (30–79%)
Weight loss	Often (30–79%)
Growth abnormality	Sometimes (5–29%)
Prenatal growth deficiency	Sometimes (5–29%)
Tall stature	Rarely (1–4%)
Disproportionate short-limb short stature	Not recorded
Mild growth deficiency	Not recorded
Truncal obesity	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Abdominal pain	Often (30–79%)
Anorexia	Often (30–79%)
Accumulation of fluid in the abdomen	Sometimes (5–29%)
Esophageal tumor	Sometimes (5–29%)
Jaundice	Sometimes (5–29%)
Slowed or blocked flow of bile from liver	Sometimes (5–29%)
Stomach tumor	Sometimes (5–29%)
Cancer of the pancreas	Rarely (1–4%)
Hepatocellular carcinoma	Rarely (1–4%)
Rectal tumor	Rarely (1–4%)

Laboratory abnormality

Trait	How often it is seen
Elevated calcitonin	Always
Elevated circulating parathyroid hormone level	Always
High blood phosphate levels	Always
High urine cortisol level	Always
Diabetes mellitus	Often (30–79%)
Fever	Often (30–79%)
Laboratory abnormality	Often (30–79%)
Low blood potassium levels	Often (30–79%)
Pee issues	Sometimes (5–29%)
Blood in urine	Rarely (1–4%)

Abnormality of the eye

Trait	How often it is seen
Wide-set eyes	Often (30–79%)
Blue eyes	Not recorded
Cross-eyed	Not recorded
Optic atrophy	Not recorded
Pigmentation of the outer white part of the eyeball	Not recorded

Abnormality of the breast

Trait	How often it is seen
Breast tumor	Sometimes (5–29%)
Ductal carcinoma in situ	Sometimes (5–29%)
Enlarged male breast	Sometimes (5–29%)
Fibroadenoma of the breast	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Breathing difficulty	Always
Exertional breathlessness	Often (30–79%)
Lung adenocarcinoma	Often (30–79%)
Wet cough	Sometimes (5–29%)

Constitutional symptom

Trait	How often it is seen
Decreased ability to exercise	Always
Fatigue	Always
Chest pain	Sometimes (5–29%)
Death of body tissue due to lack of blood flow or infection	Rarely (1–4%)

Abnormality of the ear

Trait	How often it is seen
Dizziness	Often (30–79%)
Hearing impairment	Often (30–79%)

Abnormality of the immune system

Trait	How often it is seen
Abnormality of immune system physiology	Often (30–79%)
Chronic infection	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 PRKAR1A and how often each is seen. Find out more at hpo.jax.org.

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