Kjennetegn

Kjennetegn knyttet til PRKAR1A

protein kinase cAMP-dependent type I regulatory subunit alpha

Human Phenotype Ontology knytter 250 kjennetegn til PRKAR1A, sortert etter kroppssystem: trekk som ses hos personer med en av genets sjeldne tilstander.

Abnormality of head or neck

Kjennetegn	Hvor ofte den forekommer
Darkening of skin of the lips	Alltid
Decreased size of maxilla	Alltid
Lip freckle	Alltid
Midface retrusion	Alltid
Moon face	Alltid
Palatine myxoma	Alltid
Depressed nasal bridge	Svært ofte (80–99 %)
Flat nose	Svært ofte (80–99 %)
Open mouth	Svært ofte (80–99 %)
Short nose	Svært ofte (80–99 %)
Wide nasal bridge	Svært ofte (80–99 %)
Big lower jaw	Ofte (30–79 %)
Broad head shape	Ofte (30–79 %)
Corners of eye widely separated	Ofte (30–79 %)
Delayed eruption of teeth	Ofte (30–79 %)
Frontal bossing	Ofte (30–79 %)
Nasal tip, upturned	Ofte (30–79 %)
Prominent forehead	Ofte (30–79 %)
Abnormal hard palate morphology	Noen ganger (5–29 %)
Eye folds	Noen ganger (5–29 %)
Eyelid nodules	Noen ganger (5–29 %)
Flat face	Noen ganger (5–29 %)
Gum enlargement	Noen ganger (5–29 %)
Inflammation of the mouth	Noen ganger (5–29 %)
Neoplasm of the pharynx	Noen ganger (5–29 %)
Open bite	Noen ganger (5–29 %)
Paranasal sinus neoplasm	Noen ganger (5–29 %)
Tongue nodules	Noen ganger (5–29 %)
Bad bite	Ikke registrert
Broad nasal tip	Ikke registrert
Failure of development of between one and six teeth	Ikke registrert
Overgrowth of skullcap	Ikke registrert
Round face	Ikke registrert

Abnormality of the endocrine system

Kjennetegn	Hvor ofte den forekommer
Adrenocortical carcinoma	Alltid
Adrenocorticotropic hormone deficiency	Alltid
Decreased growth hormone responses to growth hormone-releasing hormone challenge	Alltid
Increased circulating cortisol level	Alltid
Low thyroid gland function due to abnormal pituitary gland	Alltid
Macronodular adrenal hyperplasia	Alltid
Pigmented micronodular adrenocortical disease	Alltid
Abnormal circulating dehydroepiandrosterone concentration	Ofte (30–79 %)
Decreased circulating dehydroepiandrosterone concentration	Ofte (30–79 %)
Elevated circulating thyroid-stimulating hormone concentration	Ofte (30–79 %)
Elevated plasma aldosterone	Ofte (30–79 %)
Elevated serum 11-deoxycortisol	Ofte (30–79 %)
Euthyroid multinodular goiter	Ofte (30–79 %)
Growth hormone excess	Ofte (30–79 %)
Increased circulating androgen concentration	Ofte (30–79 %)
Increased circulating androstenedione concentration	Ofte (30–79 %)
Increased circulating insulin-like growth factor 1 concentration	Ofte (30–79 %)
Increased circulating prolactin concentration	Ofte (30–79 %)
Increased serum estradiol	Ofte (30–79 %)
Increased testosterone	Ofte (30–79 %)
Paradoxical increased cortisol secretion on dexamethasone suppression test	Ofte (30–79 %)
Pituitary growth hormone cell adenoma	Ofte (30–79 %)
Underactive thyroid gland from birth	Ofte (30–79 %)
Decreased activity of gonads	Noen ganger (5–29 %)
Early onset of puberty	Sjelden (1–4%)
Follicular thyroid carcinoma	Sjelden (1–4%)
Papillary thyroid carcinoma	Sjelden (1–4%)
Thyroid carcinoma	Sjelden (1–4%)
Decreased circulating ACTH concentration	Ikke registrert
Noncancerous tumor in pituitary gland	Ikke registrert
Pheochromocytoma	Ikke registrert
Primary hypercortisolism	Ikke registrert
Thyroid follicular hyperplasia	Ikke registrert

Abnormality of limbs

Kjennetegn	Hvor ofte den forekommer
Cone-shaped end part of finger bones	Alltid
Short finger bones	Alltid
Short fingers or toes	Alltid
Short long bone of foot	Alltid
Short palm	Alltid
Shortened long bone of hand	Alltid
Abnormal shape of long bones of hand	Svært ofte (80–99 %)
Short toe	Svært ofte (80–99 %)
Abnormal morphology of the radius	Ofte (30–79 %)
Abnormal morphology of ulna	Ofte (30–79 %)
Abnormal shape of shaft of long bone	Ofte (30–79 %)
Abnormality of the thighbone	Ofte (30–79 %)
Abnormality of the wide portion of a long bone	Ofte (30–79 %)
Bowing of the long bones	Ofte (30–79 %)
Cone-shaped end part of long bone	Ofte (30–79 %)
Coxa valga	Ofte (30–79 %)
Outward bow-leggedness	Ofte (30–79 %)
Smaller or shorter than typical limbs	Ofte (30–79 %)
Underdeveloped inner large forearm bone	Ofte (30–79 %)
Underdeveloped outer large forearm bone	Ofte (30–79 %)
Fluid accumulation in lower limbs	Noen ganger (5–29 %)
Broad palm	Ikke registrert
Dislocated radial head	Ikke registrert
Long big toe	Ikke registrert

Abnormality of the genitourinary system

Kjennetegn	Hvor ofte den forekommer
Abnormal female external genitalia	Ofte (30–79 %)
Abnormality of reproductive system physiology	Ofte (30–79 %)
Absent kidney on one side	Ofte (30–79 %)
Gonadal neoplasm	Ofte (30–79 %)
Ovarian cyst	Ofte (30–79 %)
Sertoli cell neoplasm	Ofte (30–79 %)
Testicular cancer	Ofte (30–79 %)
Undescended testes	Ofte (30–79 %)
Abnormal morphology of female internal genitalia	Noen ganger (5–29 %)
Abnormal sperm motility	Noen ganger (5–29 %)
Decreased fertility in males	Noen ganger (5–29 %)
Large testis	Noen ganger (5–29 %)
Leydig cell neoplasia	Noen ganger (5–29 %)
Low sperm count	Noen ganger (5–29 %)
Menstrual irregularity	Noen ganger (5–29 %)
Ovarian carcinoma	Noen ganger (5–29 %)
Ovarian dermoid cyst	Noen ganger (5–29 %)
Ovarian serous cystadenoma	Noen ganger (5–29 %)
Previous menstrual periods stop	Noen ganger (5–29 %)
Testicular adrenal rest tumor	Noen ganger (5–29 %)
Abnormal uterus bleeding	Sjelden (1–4%)

Abnormality of the integument

Kjennetegn	Hvor ofte den forekommer
Buffalo hump	Alltid
Cutaneous myxoma	Alltid
Dermal translucency	Alltid
Stretch marks	Alltid
Thin skin	Alltid
Abnormality of the nail	Svært ofte (80–99 %)
Atypical nevi in non-sun exposed areas	Ofte (30–79 %)
Blue nevus	Ofte (30–79 %)
Excessive hair growth	Ofte (30–79 %)
Excessive sweating	Ofte (30–79 %)
Liver spots	Ofte (30–79 %)
Multiple birthmarks	Ofte (30–79 %)
Spotty increased pigmentation	Ofte (30–79 %)
Beauty mark	Noen ganger (5–29 %)
Excessive hairiness	Noen ganger (5–29 %)
Abnormal skin pigmentation	Ikke registrert
Freckling	Ikke registrert
Mole	Ikke registrert
Myxoid subcutaneous tumors	Ikke registrert
Red hair	Ikke registrert

Abnormality of blood and blood-forming tissues

Kjennetegn	Hvor ofte den forekommer
Bleeding gums	Ofte (30–79 %)
Bleeding tendency	Ofte (30–79 %)
Blood spots	Ofte (30–79 %)
Bloody nose	Ofte (30–79 %)
Bone marrow hypercellularity	Ofte (30–79 %)
Bruising susceptibility	Ofte (30–79 %)
Decreased blood leukocyte number	Ofte (30–79 %)
Disseminated intravascular coagulation	Ofte (30–79 %)
Ecchymosis	Ofte (30–79 %)
Low blood cell count	Ofte (30–79 %)
Low number of red blood cells or hemoglobin	Ofte (30–79 %)
Low platelet count	Ofte (30–79 %)
Petechiae	Ofte (30–79 %)
Diffuse alveolar hemorrhage	Noen ganger (5–29 %)
Elevated white blood count	Noen ganger (5–29 %)
Hypofibrinogenemia	Noen ganger (5–29 %)
Low blood neutrophil count	Noen ganger (5–29 %)
Oral cavity bleeding	Noen ganger (5–29 %)
Thromboembolism	Noen ganger (5–29 %)

Abnormality of the musculoskeletal system

Kjennetegn	Hvor ofte den forekommer
Advanced bone age	Alltid
Speckled calcifications in end part of bone	Alltid
Abnormal vertebral body morphology	Svært ofte (80–99 %)
Cone-shaped end part of bone	Svært ofte (80–99 %)
Joint dislocation	Ofte (30–79 %)
Muscle weakness	Ofte (30–79 %)
Narrow spinal canal	Ofte (30–79 %)
Narrow vertebral interpedicular distance	Ofte (30–79 %)
Tired easily	Ofte (30–79 %)
Bone pain	Noen ganger (5–29 %)
Enchondroma	Noen ganger (5–29 %)
Scoliosis	Noen ganger (5–29 %)
Hunched back	Ikke registrert
Osteopenia	Ikke registrert
Osteoporosis	Ikke registrert
Speckled calcifications in bone end parts in neonates	Ikke registrert
Underdeveloped back bones	Ikke registrert

Abnormality of the nervous system

Kjennetegn	Hvor ofte den forekommer
Mild global developmental delay	Alltid
Pauses in breathing while sleeping	Alltid
Intellectual disability	Svært ofte (80–99 %)
Anxiety	Ofte (30–79 %)
Irritability	Ofte (30–79 %)
Panic attack	Ofte (30–79 %)
Peripheral neuropathy	Ofte (30–79 %)
Addictive alcohol use	Noen ganger (5–29 %)
Behavioral abnormality	Noen ganger (5–29 %)
Schwannoma	Noen ganger (5–29 %)
Agitation	Ikke registrert
Can't control feelings	Ikke registrert
Depression	Ikke registrert
Mental deterioration	Ikke registrert
Psychosis	Ikke registrert
Too much cerebrospinal fluid in the brain	Ikke registrert

Abnormality of the cardiovascular system

Kjennetegn	Hvor ofte den forekommer
Cardiac myxoma	Alltid
High blood pressure	Alltid
Ventricular septal hypertrophy	Alltid
Heart murmur	Svært ofte (80–99 %)
Pulmonic valve myxoma	Svært ofte (80–99 %)
Palpitations	Ofte (30–79 %)
Bacterial endocarditis	Noen ganger (5–29 %)
Cardiac failure	Noen ganger (5–29 %)
Enlarged heart	Noen ganger (5–29 %)
Stroke	Noen ganger (5–29 %)
Swollen lymph nodes	Noen ganger (5–29 %)
Tricuspid regurgitation	Noen ganger (5–29 %)
Aneurysm	Sjelden (1–4%)
Brain aneurysm	Sjelden (1–4%)

Growth abnormality

Kjennetegn	Hvor ofte den forekommer
Abdominal obesity	Alltid
Short stature	Svært ofte (80–99 %)
Acral overgrowth	Ofte (30–79 %)
Increased body weight	Ofte (30–79 %)
Small for gestational age	Ofte (30–79 %)
Weight loss	Ofte (30–79 %)
Growth abnormality	Noen ganger (5–29 %)
Prenatal growth deficiency	Noen ganger (5–29 %)
Tall stature	Sjelden (1–4%)
Disproportionate short-limb short stature	Ikke registrert
Mild growth deficiency	Ikke registrert
Truncal obesity	Ikke registrert

Abnormality of the digestive system

Kjennetegn	Hvor ofte den forekommer
Abdominal pain	Ofte (30–79 %)
Anorexia	Ofte (30–79 %)
Accumulation of fluid in the abdomen	Noen ganger (5–29 %)
Esophageal tumor	Noen ganger (5–29 %)
Jaundice	Noen ganger (5–29 %)
Slowed or blocked flow of bile from liver	Noen ganger (5–29 %)
Stomach tumor	Noen ganger (5–29 %)
Cancer of the pancreas	Sjelden (1–4%)
Hepatocellular carcinoma	Sjelden (1–4%)
Rectal tumor	Sjelden (1–4%)

Laboratory abnormality

Kjennetegn	Hvor ofte den forekommer
Elevated calcitonin	Alltid
Elevated circulating parathyroid hormone level	Alltid
High blood phosphate levels	Alltid
High urine cortisol level	Alltid
Diabetes mellitus	Ofte (30–79 %)
Fever	Ofte (30–79 %)
Laboratory abnormality	Ofte (30–79 %)
Low blood potassium levels	Ofte (30–79 %)
Pee issues	Noen ganger (5–29 %)
Blood in urine	Sjelden (1–4%)

Abnormality of the eye

Kjennetegn	Hvor ofte den forekommer
Wide-set eyes	Ofte (30–79 %)
Blue eyes	Ikke registrert
Cross-eyed	Ikke registrert
Optic atrophy	Ikke registrert
Pigmentation of the outer white part of the eyeball	Ikke registrert

Abnormality of the breast

Kjennetegn	Hvor ofte den forekommer
Breast tumor	Noen ganger (5–29 %)
Ductal carcinoma in situ	Noen ganger (5–29 %)
Enlarged male breast	Noen ganger (5–29 %)
Fibroadenoma of the breast	Noen ganger (5–29 %)

Abnormality of the respiratory system

Kjennetegn	Hvor ofte den forekommer
Breathing difficulty	Alltid
Exertional breathlessness	Ofte (30–79 %)
Lung adenocarcinoma	Ofte (30–79 %)
Wet cough	Noen ganger (5–29 %)

Constitutional symptom

Kjennetegn	Hvor ofte den forekommer
Decreased ability to exercise	Alltid
Fatigue	Alltid
Chest pain	Noen ganger (5–29 %)
Death of body tissue due to lack of blood flow or infection	Sjelden (1–4%)

Abnormality of the ear

Kjennetegn	Hvor ofte den forekommer
Dizziness	Ofte (30–79 %)
Hearing impairment	Ofte (30–79 %)

Abnormality of the immune system

Kjennetegn	Hvor ofte den forekommer
Abnormality of immune system physiology	Ofte (30–79 %)
Chronic infection	Ofte (30–79 %)

Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.

Slik er informasjonen samlet

Human Phenotype Ontology, versjon 2026-09-01: kjennetegnene knyttet til PRKAR1A og hvor ofte hvert enn observeres. Finn ut mer på hpo.jax.org.

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