Požymiai

Su PRKAR1A susiję požymiai

protein kinase cAMP-dependent type I regulatory subunit alpha

Žmogaus fenotipo ontologija sieja 250 požymių su PRKAR1A, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.

Abnormality of head or neck

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

Abnormality of the endocrine system

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

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
Cone-shaped end part of finger bones	Visada
Short finger bones	Visada
Short fingers or toes	Visada
Short long bone of foot	Visada
Short palm	Visada
Shortened long bone of hand	Visada
Abnormal shape of long bones of hand	Labai dažnai (80–99%)
Short toe	Labai dažnai (80–99%)
Abnormal morphology of the radius	Dažnai (30–79%)
Abnormal morphology of ulna	Dažnai (30–79%)
Abnormal shape of shaft of long bone	Dažnai (30–79%)
Abnormality of the thighbone	Dažnai (30–79%)
Abnormality of the wide portion of a long bone	Dažnai (30–79%)
Bowing of the long bones	Dažnai (30–79%)
Cone-shaped end part of long bone	Dažnai (30–79%)
Coxa valga	Dažnai (30–79%)
Outward bow-leggedness	Dažnai (30–79%)
Smaller or shorter than typical limbs	Dažnai (30–79%)
Underdeveloped inner large forearm bone	Dažnai (30–79%)
Underdeveloped outer large forearm bone	Dažnai (30–79%)
Fluid accumulation in lower limbs	Kartais (5–29%)
Broad palm	Neužfiksuota
Dislocated radial head	Neužfiksuota
Long big toe	Neužfiksuota

Abnormality of the genitourinary system

Požymis	Kaip dažnai pasireiškia
Abnormal female external genitalia	Dažnai (30–79%)
Abnormality of reproductive system physiology	Dažnai (30–79%)
Absent kidney on one side	Dažnai (30–79%)
Gonadal neoplasm	Dažnai (30–79%)
Ovarian cyst	Dažnai (30–79%)
Sertoli cell neoplasm	Dažnai (30–79%)
Testicular cancer	Dažnai (30–79%)
Undescended testes	Dažnai (30–79%)
Abnormal morphology of female internal genitalia	Kartais (5–29%)
Abnormal sperm motility	Kartais (5–29%)
Decreased fertility in males	Kartais (5–29%)
Large testis	Kartais (5–29%)
Leydig cell neoplasia	Kartais (5–29%)
Low sperm count	Kartais (5–29%)
Menstrual irregularity	Kartais (5–29%)
Ovarian carcinoma	Kartais (5–29%)
Ovarian dermoid cyst	Kartais (5–29%)
Ovarian serous cystadenoma	Kartais (5–29%)
Previous menstrual periods stop	Kartais (5–29%)
Testicular adrenal rest tumor	Kartais (5–29%)
Abnormal uterus bleeding	Retai (1–4 %)

Abnormality of the integument

Požymis	Kaip dažnai pasireiškia
Buffalo hump	Visada
Cutaneous myxoma	Visada
Dermal translucency	Visada
Stretch marks	Visada
Thin skin	Visada
Abnormality of the nail	Labai dažnai (80–99%)
Atypical nevi in non-sun exposed areas	Dažnai (30–79%)
Blue nevus	Dažnai (30–79%)
Excessive hair growth	Dažnai (30–79%)
Excessive sweating	Dažnai (30–79%)
Liver spots	Dažnai (30–79%)
Multiple birthmarks	Dažnai (30–79%)
Spotty increased pigmentation	Dažnai (30–79%)
Beauty mark	Kartais (5–29%)
Excessive hairiness	Kartais (5–29%)
Abnormal skin pigmentation	Neužfiksuota
Freckling	Neužfiksuota
Mole	Neužfiksuota
Myxoid subcutaneous tumors	Neužfiksuota
Red hair	Neužfiksuota

Abnormality of blood and blood-forming tissues

Požymis	Kaip dažnai pasireiškia
Bleeding gums	Dažnai (30–79%)
Bleeding tendency	Dažnai (30–79%)
Blood spots	Dažnai (30–79%)
Bloody nose	Dažnai (30–79%)
Bone marrow hypercellularity	Dažnai (30–79%)
Bruising susceptibility	Dažnai (30–79%)
Decreased blood leukocyte number	Dažnai (30–79%)
Disseminated intravascular coagulation	Dažnai (30–79%)
Ecchymosis	Dažnai (30–79%)
Low blood cell count	Dažnai (30–79%)
Low number of red blood cells or hemoglobin	Dažnai (30–79%)
Low platelet count	Dažnai (30–79%)
Petechiae	Dažnai (30–79%)
Diffuse alveolar hemorrhage	Kartais (5–29%)
Elevated white blood count	Kartais (5–29%)
Hypofibrinogenemia	Kartais (5–29%)
Low blood neutrophil count	Kartais (5–29%)
Oral cavity bleeding	Kartais (5–29%)
Thromboembolism	Kartais (5–29%)

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
Advanced bone age	Visada
Speckled calcifications in end part of bone	Visada
Abnormal vertebral body morphology	Labai dažnai (80–99%)
Cone-shaped end part of bone	Labai dažnai (80–99%)
Joint dislocation	Dažnai (30–79%)
Muscle weakness	Dažnai (30–79%)
Narrow spinal canal	Dažnai (30–79%)
Narrow vertebral interpedicular distance	Dažnai (30–79%)
Tired easily	Dažnai (30–79%)
Bone pain	Kartais (5–29%)
Enchondroma	Kartais (5–29%)
Scoliosis	Kartais (5–29%)
Hunched back	Neužfiksuota
Osteopenia	Neužfiksuota
Osteoporosis	Neužfiksuota
Speckled calcifications in bone end parts in neonates	Neužfiksuota
Underdeveloped back bones	Neužfiksuota

Abnormality of the nervous system

Požymis	Kaip dažnai pasireiškia
Mild global developmental delay	Visada
Pauses in breathing while sleeping	Visada
Intellectual disability	Labai dažnai (80–99%)
Anxiety	Dažnai (30–79%)
Irritability	Dažnai (30–79%)
Panic attack	Dažnai (30–79%)
Peripheral neuropathy	Dažnai (30–79%)
Addictive alcohol use	Kartais (5–29%)
Behavioral abnormality	Kartais (5–29%)
Schwannoma	Kartais (5–29%)
Agitation	Neužfiksuota
Can't control feelings	Neužfiksuota
Depression	Neužfiksuota
Mental deterioration	Neužfiksuota
Psychosis	Neužfiksuota
Too much cerebrospinal fluid in the brain	Neužfiksuota

Abnormality of the cardiovascular system

Požymis	Kaip dažnai pasireiškia
Cardiac myxoma	Visada
High blood pressure	Visada
Ventricular septal hypertrophy	Visada
Heart murmur	Labai dažnai (80–99%)
Pulmonic valve myxoma	Labai dažnai (80–99%)
Palpitations	Dažnai (30–79%)
Bacterial endocarditis	Kartais (5–29%)
Cardiac failure	Kartais (5–29%)
Enlarged heart	Kartais (5–29%)
Stroke	Kartais (5–29%)
Swollen lymph nodes	Kartais (5–29%)
Tricuspid regurgitation	Kartais (5–29%)
Aneurysm	Retai (1–4 %)
Brain aneurysm	Retai (1–4 %)

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Abdominal obesity	Visada
Short stature	Labai dažnai (80–99%)
Acral overgrowth	Dažnai (30–79%)
Increased body weight	Dažnai (30–79%)
Small for gestational age	Dažnai (30–79%)
Weight loss	Dažnai (30–79%)
Growth abnormality	Kartais (5–29%)
Prenatal growth deficiency	Kartais (5–29%)
Tall stature	Retai (1–4 %)
Disproportionate short-limb short stature	Neužfiksuota
Mild growth deficiency	Neužfiksuota
Truncal obesity	Neužfiksuota

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Abdominal pain	Dažnai (30–79%)
Anorexia	Dažnai (30–79%)
Accumulation of fluid in the abdomen	Kartais (5–29%)
Esophageal tumor	Kartais (5–29%)
Jaundice	Kartais (5–29%)
Slowed or blocked flow of bile from liver	Kartais (5–29%)
Stomach tumor	Kartais (5–29%)
Cancer of the pancreas	Retai (1–4 %)
Hepatocellular carcinoma	Retai (1–4 %)
Rectal tumor	Retai (1–4 %)

Laboratory abnormality

Požymis	Kaip dažnai pasireiškia
Elevated calcitonin	Visada
Elevated circulating parathyroid hormone level	Visada
High blood phosphate levels	Visada
High urine cortisol level	Visada
Diabetes mellitus	Dažnai (30–79%)
Fever	Dažnai (30–79%)
Laboratory abnormality	Dažnai (30–79%)
Low blood potassium levels	Dažnai (30–79%)
Pee issues	Kartais (5–29%)
Blood in urine	Retai (1–4 %)

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Wide-set eyes	Dažnai (30–79%)
Blue eyes	Neužfiksuota
Cross-eyed	Neužfiksuota
Optic atrophy	Neužfiksuota
Pigmentation of the outer white part of the eyeball	Neužfiksuota

Abnormality of the breast

Požymis	Kaip dažnai pasireiškia
Breast tumor	Kartais (5–29%)
Ductal carcinoma in situ	Kartais (5–29%)
Enlarged male breast	Kartais (5–29%)
Fibroadenoma of the breast	Kartais (5–29%)

Abnormality of the respiratory system

Požymis	Kaip dažnai pasireiškia
Breathing difficulty	Visada
Exertional breathlessness	Dažnai (30–79%)
Lung adenocarcinoma	Dažnai (30–79%)
Wet cough	Kartais (5–29%)

Constitutional symptom

Požymis	Kaip dažnai pasireiškia
Decreased ability to exercise	Visada
Fatigue	Visada
Chest pain	Kartais (5–29%)
Death of body tissue due to lack of blood flow or infection	Retai (1–4 %)

Abnormality of the ear

Požymis	Kaip dažnai pasireiškia
Dizziness	Dažnai (30–79%)
Hearing impairment	Dažnai (30–79%)

Abnormality of the immune system

Požymis	Kaip dažnai pasireiškia
Abnormality of immune system physiology	Dažnai (30–79%)
Chronic infection	Dažnai (30–79%)

Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.

Iš kur tai žinoma

Žmogaus fenotipo ontologija, 2026-09-01 leidimas: su PRKAR1A susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

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