Tunnused

Geeniga PRKAR1A seotud tunnused

protein kinase cAMP-dependent type I regulatory subunit alpha

Inimese fenotüübi ontoloogia seostab geeniga PRKAR1A 250 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

Abnormality of head or neck

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

Abnormality of the endocrine system

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

Abnormality of limbs

Tunnus	Kui sageli seda täheldatakse
Cone-shaped end part of finger bones	Alati
Short finger bones	Alati
Short fingers or toes	Alati
Short long bone of foot	Alati
Short palm	Alati
Shortened long bone of hand	Alati
Abnormal shape of long bones of hand	Väga sageli (80–99%)
Short toe	Väga sageli (80–99%)
Abnormal morphology of the radius	Sageli (30–79%)
Abnormal morphology of ulna	Sageli (30–79%)
Abnormal shape of shaft of long bone	Sageli (30–79%)
Abnormality of the thighbone	Sageli (30–79%)
Abnormality of the wide portion of a long bone	Sageli (30–79%)
Bowing of the long bones	Sageli (30–79%)
Cone-shaped end part of long bone	Sageli (30–79%)
Coxa valga	Sageli (30–79%)
Outward bow-leggedness	Sageli (30–79%)
Smaller or shorter than typical limbs	Sageli (30–79%)
Underdeveloped inner large forearm bone	Sageli (30–79%)
Underdeveloped outer large forearm bone	Sageli (30–79%)
Fluid accumulation in lower limbs	Mõnikord (5–29%)
Broad palm	Pole registreeritud
Dislocated radial head	Pole registreeritud
Long big toe	Pole registreeritud

Abnormality of the genitourinary system

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

Abnormality of the integument

Tunnus	Kui sageli seda täheldatakse
Buffalo hump	Alati
Cutaneous myxoma	Alati
Dermal translucency	Alati
Stretch marks	Alati
Thin skin	Alati
Abnormality of the nail	Väga sageli (80–99%)
Atypical nevi in non-sun exposed areas	Sageli (30–79%)
Blue nevus	Sageli (30–79%)
Excessive hair growth	Sageli (30–79%)
Excessive sweating	Sageli (30–79%)
Liver spots	Sageli (30–79%)
Multiple birthmarks	Sageli (30–79%)
Spotty increased pigmentation	Sageli (30–79%)
Beauty mark	Mõnikord (5–29%)
Excessive hairiness	Mõnikord (5–29%)
Abnormal skin pigmentation	Pole registreeritud
Freckling	Pole registreeritud
Mole	Pole registreeritud
Myxoid subcutaneous tumors	Pole registreeritud
Red hair	Pole registreeritud

Abnormality of blood and blood-forming tissues

Tunnus	Kui sageli seda täheldatakse
Bleeding gums	Sageli (30–79%)
Bleeding tendency	Sageli (30–79%)
Blood spots	Sageli (30–79%)
Bloody nose	Sageli (30–79%)
Bone marrow hypercellularity	Sageli (30–79%)
Bruising susceptibility	Sageli (30–79%)
Decreased blood leukocyte number	Sageli (30–79%)
Disseminated intravascular coagulation	Sageli (30–79%)
Ecchymosis	Sageli (30–79%)
Low blood cell count	Sageli (30–79%)
Low number of red blood cells or hemoglobin	Sageli (30–79%)
Low platelet count	Sageli (30–79%)
Petechiae	Sageli (30–79%)
Diffuse alveolar hemorrhage	Mõnikord (5–29%)
Elevated white blood count	Mõnikord (5–29%)
Hypofibrinogenemia	Mõnikord (5–29%)
Low blood neutrophil count	Mõnikord (5–29%)
Oral cavity bleeding	Mõnikord (5–29%)
Thromboembolism	Mõnikord (5–29%)

Abnormality of the musculoskeletal system

Tunnus	Kui sageli seda täheldatakse
Advanced bone age	Alati
Speckled calcifications in end part of bone	Alati
Abnormal vertebral body morphology	Väga sageli (80–99%)
Cone-shaped end part of bone	Väga sageli (80–99%)
Joint dislocation	Sageli (30–79%)
Muscle weakness	Sageli (30–79%)
Narrow spinal canal	Sageli (30–79%)
Narrow vertebral interpedicular distance	Sageli (30–79%)
Tired easily	Sageli (30–79%)
Bone pain	Mõnikord (5–29%)
Enchondroma	Mõnikord (5–29%)
Scoliosis	Mõnikord (5–29%)
Hunched back	Pole registreeritud
Osteopenia	Pole registreeritud
Osteoporosis	Pole registreeritud
Speckled calcifications in bone end parts in neonates	Pole registreeritud
Underdeveloped back bones	Pole registreeritud

Abnormality of the nervous system

Tunnus	Kui sageli seda täheldatakse
Mild global developmental delay	Alati
Pauses in breathing while sleeping	Alati
Intellectual disability	Väga sageli (80–99%)
Anxiety	Sageli (30–79%)
Irritability	Sageli (30–79%)
Panic attack	Sageli (30–79%)
Peripheral neuropathy	Sageli (30–79%)
Addictive alcohol use	Mõnikord (5–29%)
Behavioral abnormality	Mõnikord (5–29%)
Schwannoma	Mõnikord (5–29%)
Agitation	Pole registreeritud
Can't control feelings	Pole registreeritud
Depression	Pole registreeritud
Mental deterioration	Pole registreeritud
Psychosis	Pole registreeritud
Too much cerebrospinal fluid in the brain	Pole registreeritud

Abnormality of the cardiovascular system

Tunnus	Kui sageli seda täheldatakse
Cardiac myxoma	Alati
High blood pressure	Alati
Ventricular septal hypertrophy	Alati
Heart murmur	Väga sageli (80–99%)
Pulmonic valve myxoma	Väga sageli (80–99%)
Palpitations	Sageli (30–79%)
Bacterial endocarditis	Mõnikord (5–29%)
Cardiac failure	Mõnikord (5–29%)
Enlarged heart	Mõnikord (5–29%)
Stroke	Mõnikord (5–29%)
Swollen lymph nodes	Mõnikord (5–29%)
Tricuspid regurgitation	Mõnikord (5–29%)
Aneurysm	Harva (1–4%)
Brain aneurysm	Harva (1–4%)

Growth abnormality

Tunnus	Kui sageli seda täheldatakse
Abdominal obesity	Alati
Short stature	Väga sageli (80–99%)
Acral overgrowth	Sageli (30–79%)
Increased body weight	Sageli (30–79%)
Small for gestational age	Sageli (30–79%)
Weight loss	Sageli (30–79%)
Growth abnormality	Mõnikord (5–29%)
Prenatal growth deficiency	Mõnikord (5–29%)
Tall stature	Harva (1–4%)
Disproportionate short-limb short stature	Pole registreeritud
Mild growth deficiency	Pole registreeritud
Truncal obesity	Pole registreeritud

Abnormality of the digestive system

Tunnus	Kui sageli seda täheldatakse
Abdominal pain	Sageli (30–79%)
Anorexia	Sageli (30–79%)
Accumulation of fluid in the abdomen	Mõnikord (5–29%)
Esophageal tumor	Mõnikord (5–29%)
Jaundice	Mõnikord (5–29%)
Slowed or blocked flow of bile from liver	Mõnikord (5–29%)
Stomach tumor	Mõnikord (5–29%)
Cancer of the pancreas	Harva (1–4%)
Hepatocellular carcinoma	Harva (1–4%)
Rectal tumor	Harva (1–4%)

Laboratory abnormality

Tunnus	Kui sageli seda täheldatakse
Elevated calcitonin	Alati
Elevated circulating parathyroid hormone level	Alati
High blood phosphate levels	Alati
High urine cortisol level	Alati
Diabetes mellitus	Sageli (30–79%)
Fever	Sageli (30–79%)
Laboratory abnormality	Sageli (30–79%)
Low blood potassium levels	Sageli (30–79%)
Pee issues	Mõnikord (5–29%)
Blood in urine	Harva (1–4%)

Abnormality of the eye

Tunnus	Kui sageli seda täheldatakse
Wide-set eyes	Sageli (30–79%)
Blue eyes	Pole registreeritud
Cross-eyed	Pole registreeritud
Optic atrophy	Pole registreeritud
Pigmentation of the outer white part of the eyeball	Pole registreeritud

Abnormality of the breast

Tunnus	Kui sageli seda täheldatakse
Breast tumor	Mõnikord (5–29%)
Ductal carcinoma in situ	Mõnikord (5–29%)
Enlarged male breast	Mõnikord (5–29%)
Fibroadenoma of the breast	Mõnikord (5–29%)

Abnormality of the respiratory system

Tunnus	Kui sageli seda täheldatakse
Breathing difficulty	Alati
Exertional breathlessness	Sageli (30–79%)
Lung adenocarcinoma	Sageli (30–79%)
Wet cough	Mõnikord (5–29%)

Constitutional symptom

Tunnus	Kui sageli seda täheldatakse
Decreased ability to exercise	Alati
Fatigue	Alati
Chest pain	Mõnikord (5–29%)
Death of body tissue due to lack of blood flow or infection	Harva (1–4%)

Abnormality of the ear

Tunnus	Kui sageli seda täheldatakse
Dizziness	Sageli (30–79%)
Hearing impairment	Sageli (30–79%)

Abnormality of the immune system

Tunnus	Kui sageli seda täheldatakse
Abnormality of immune system physiology	Sageli (30–79%)
Chronic infection	Sageli (30–79%)

Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.

Allikas

Inimese fenotüübi ontoloogia, versioon 2026-09-01: geeniga PRKAR1A seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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