AtlasCui ne adresămȘtiința noastrăProduseRezultate
ConectareÎntrebațiSecvențiați-vă genomul↗
Trăsături
Trăsături asociate cu PRKAR1A
protein kinase cAMP-dependent type I regulatory subunit alpha
Human Phenotype Ontology asociază 250 trăsături cu PRKAR1A, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.
AtlasCui ne adresămȘtiința noastrăProduseRezultate
ConectareÎntrebațiSecvențiați-vă genomul↗
AtlasCui ne adresămȘtiința noastrăProduseRezultate
ConectareÎntrebațiSecvențiați-vă genomul↗
Abnormality of head or neck
Abnormality of the endocrine system
Abnormality of limbs
| Trăsătură | Cât de frecvent apare |
|---|---|
| Cone-shaped end part of finger bones | Întotdeauna |
| Short finger bones | Întotdeauna |
| Short fingers or toes | Întotdeauna |
| Short long bone of foot | Întotdeauna |
| Short palm | Întotdeauna |
| Shortened long bone of hand | Întotdeauna |
| Abnormal shape of long bones of hand | Foarte des (80–99%) |
| Short toe | Foarte des (80–99%) |
| Abnormal morphology of the radius | Des (30–79%) |
| Abnormal morphology of ulna | Des (30–79%) |
| Abnormal shape of shaft of long bone | Des (30–79%) |
| Abnormality of the thighbone | Des (30–79%) |
| Abnormality of the wide portion of a long bone | Des (30–79%) |
| Bowing of the long bones | Des (30–79%) |
| Cone-shaped end part of long bone | Des (30–79%) |
| Coxa valga | Des (30–79%) |
| Outward bow-leggedness | Des (30–79%) |
| Smaller or shorter than typical limbs | Des (30–79%) |
| Underdeveloped inner large forearm bone | Des (30–79%) |
| Underdeveloped outer large forearm bone | Des (30–79%) |
| Fluid accumulation in lower limbs | Uneori (5–29%) |
| Broad palm | Neînregistrat |
| Dislocated radial head | Neînregistrat |
| Long big toe | Neînregistrat |
Abnormality of the genitourinary system
| Trăsătură | Cât de frecvent apare |
|---|---|
| Abnormal female external genitalia | Des (30–79%) |
| Abnormality of reproductive system physiology | Des (30–79%) |
| Absent kidney on one side | Des (30–79%) |
| Gonadal neoplasm | Des (30–79%) |
| Ovarian cyst | Des (30–79%) |
| Sertoli cell neoplasm | Des (30–79%) |
| Testicular cancer | Des (30–79%) |
| Undescended testes | Des (30–79%) |
| Abnormal morphology of female internal genitalia | Uneori (5–29%) |
| Abnormal sperm motility | Uneori (5–29%) |
| Decreased fertility in males | Uneori (5–29%) |
| Large testis | Uneori (5–29%) |
| Leydig cell neoplasia | Uneori (5–29%) |
| Low sperm count | Uneori (5–29%) |
| Menstrual irregularity | Uneori (5–29%) |
| Ovarian carcinoma | Uneori (5–29%) |
| Ovarian dermoid cyst | Uneori (5–29%) |
| Ovarian serous cystadenoma | Uneori (5–29%) |
| Previous menstrual periods stop | Uneori (5–29%) |
| Testicular adrenal rest tumor | Uneori (5–29%) |
| Abnormal uterus bleeding | Rar (1–4%) |
Abnormality of the integument
| Trăsătură | Cât de frecvent apare |
|---|---|
| Buffalo hump | Întotdeauna |
| Cutaneous myxoma | Întotdeauna |
| Dermal translucency | Întotdeauna |
| Stretch marks | Întotdeauna |
| Thin skin | Întotdeauna |
| Abnormality of the nail | Foarte des (80–99%) |
| Atypical nevi in non-sun exposed areas | Des (30–79%) |
| Blue nevus | Des (30–79%) |
| Excessive hair growth | Des (30–79%) |
| Excessive sweating | Des (30–79%) |
| Liver spots | Des (30–79%) |
| Multiple birthmarks | Des (30–79%) |
| Spotty increased pigmentation | Des (30–79%) |
| Beauty mark | Uneori (5–29%) |
| Excessive hairiness | Uneori (5–29%) |
| Abnormal skin pigmentation | Neînregistrat |
| Freckling | Neînregistrat |
| Mole | Neînregistrat |
| Myxoid subcutaneous tumors | Neînregistrat |
| Red hair | Neînregistrat |
Abnormality of blood and blood-forming tissues
| Trăsătură | Cât de frecvent apare |
|---|---|
| Bleeding gums | Des (30–79%) |
| Bleeding tendency | Des (30–79%) |
| Blood spots | Des (30–79%) |
| Bloody nose | Des (30–79%) |
| Bone marrow hypercellularity | Des (30–79%) |
| Bruising susceptibility | Des (30–79%) |
| Decreased blood leukocyte number | Des (30–79%) |
| Disseminated intravascular coagulation | Des (30–79%) |
| Ecchymosis | Des (30–79%) |
| Low blood cell count | Des (30–79%) |
| Low number of red blood cells or hemoglobin | Des (30–79%) |
| Low platelet count | Des (30–79%) |
| Petechiae | Des (30–79%) |
| Diffuse alveolar hemorrhage | Uneori (5–29%) |
| Elevated white blood count | Uneori (5–29%) |
| Hypofibrinogenemia | Uneori (5–29%) |
| Low blood neutrophil count | Uneori (5–29%) |
| Oral cavity bleeding | Uneori (5–29%) |
| Thromboembolism | Uneori (5–29%) |
Abnormality of the musculoskeletal system
| Trăsătură | Cât de frecvent apare |
|---|---|
| Advanced bone age | Întotdeauna |
| Speckled calcifications in end part of bone | Întotdeauna |
| Abnormal vertebral body morphology | Foarte des (80–99%) |
| Cone-shaped end part of bone | Foarte des (80–99%) |
| Joint dislocation | Des (30–79%) |
| Muscle weakness | Des (30–79%) |
| Narrow spinal canal | Des (30–79%) |
| Narrow vertebral interpedicular distance | Des (30–79%) |
| Tired easily | Des (30–79%) |
| Bone pain | Uneori (5–29%) |
| Enchondroma | Uneori (5–29%) |
| Scoliosis | Uneori (5–29%) |
| Hunched back | Neînregistrat |
| Osteopenia | Neînregistrat |
| Osteoporosis | Neînregistrat |
| Speckled calcifications in bone end parts in neonates | Neînregistrat |
| Underdeveloped back bones | Neînregistrat |
Abnormality of the nervous system
| Trăsătură | Cât de frecvent apare |
|---|---|
| Mild global developmental delay | Întotdeauna |
| Pauses in breathing while sleeping | Întotdeauna |
| Intellectual disability | Foarte des (80–99%) |
| Anxiety | Des (30–79%) |
| Irritability | Des (30–79%) |
| Panic attack | Des (30–79%) |
| Peripheral neuropathy | Des (30–79%) |
| Addictive alcohol use | Uneori (5–29%) |
| Behavioral abnormality | Uneori (5–29%) |
| Schwannoma | Uneori (5–29%) |
| Agitation | Neînregistrat |
| Can't control feelings | Neînregistrat |
| Depression | Neînregistrat |
| Mental deterioration | Neînregistrat |
| Psychosis | Neînregistrat |
| Too much cerebrospinal fluid in the brain | Neînregistrat |
Abnormality of the cardiovascular system
| Trăsătură | Cât de frecvent apare |
|---|---|
| Cardiac myxoma | Întotdeauna |
| High blood pressure | Întotdeauna |
| Ventricular septal hypertrophy | Întotdeauna |
| Heart murmur | Foarte des (80–99%) |
| Pulmonic valve myxoma | Foarte des (80–99%) |
| Palpitations | Des (30–79%) |
| Bacterial endocarditis | Uneori (5–29%) |
| Cardiac failure | Uneori (5–29%) |
| Enlarged heart | Uneori (5–29%) |
| Stroke | Uneori (5–29%) |
| Swollen lymph nodes | Uneori (5–29%) |
| Tricuspid regurgitation | Uneori (5–29%) |
| Aneurysm | Rar (1–4%) |
| Brain aneurysm | Rar (1–4%) |
Growth abnormality
| Trăsătură | Cât de frecvent apare |
|---|---|
| Abdominal obesity | Întotdeauna |
| Short stature | Foarte des (80–99%) |
| Acral overgrowth | Des (30–79%) |
| Increased body weight | Des (30–79%) |
| Small for gestational age | Des (30–79%) |
| Weight loss | Des (30–79%) |
| Growth abnormality | Uneori (5–29%) |
| Prenatal growth deficiency | Uneori (5–29%) |
| Tall stature | Rar (1–4%) |
| Disproportionate short-limb short stature | Neînregistrat |
| Mild growth deficiency | Neînregistrat |
| Truncal obesity | Neînregistrat |
Abnormality of the digestive system
| Trăsătură | Cât de frecvent apare |
|---|---|
| Abdominal pain | Des (30–79%) |
| Anorexia | Des (30–79%) |
| Accumulation of fluid in the abdomen | Uneori (5–29%) |
| Esophageal tumor | Uneori (5–29%) |
| Jaundice | Uneori (5–29%) |
| Slowed or blocked flow of bile from liver | Uneori (5–29%) |
| Stomach tumor | Uneori (5–29%) |
| Cancer of the pancreas | Rar (1–4%) |
| Hepatocellular carcinoma | Rar (1–4%) |
| Rectal tumor | Rar (1–4%) |
Laboratory abnormality
| Trăsătură | Cât de frecvent apare |
|---|---|
| Elevated calcitonin | Întotdeauna |
| Elevated circulating parathyroid hormone level | Întotdeauna |
| High blood phosphate levels | Întotdeauna |
| High urine cortisol level | Întotdeauna |
| Diabetes mellitus | Des (30–79%) |
| Fever | Des (30–79%) |
| Laboratory abnormality | Des (30–79%) |
| Low blood potassium levels | Des (30–79%) |
| Pee issues | Uneori (5–29%) |
| Blood in urine | Rar (1–4%) |
Abnormality of the eye
| Trăsătură | Cât de frecvent apare |
|---|---|
| Wide-set eyes | Des (30–79%) |
| Blue eyes | Neînregistrat |
| Cross-eyed | Neînregistrat |
| Optic atrophy | Neînregistrat |
| Pigmentation of the outer white part of the eyeball | Neînregistrat |
Abnormality of the breast
| Trăsătură | Cât de frecvent apare |
|---|---|
| Breast tumor | Uneori (5–29%) |
| Ductal carcinoma in situ | Uneori (5–29%) |
| Enlarged male breast | Uneori (5–29%) |
| Fibroadenoma of the breast | Uneori (5–29%) |
Abnormality of the respiratory system
| Trăsătură | Cât de frecvent apare |
|---|---|
| Breathing difficulty | Întotdeauna |
| Exertional breathlessness | Des (30–79%) |
| Lung adenocarcinoma | Des (30–79%) |
| Wet cough | Uneori (5–29%) |
Constitutional symptom
| Trăsătură | Cât de frecvent apare |
|---|---|
| Decreased ability to exercise | Întotdeauna |
| Fatigue | Întotdeauna |
| Chest pain | Uneori (5–29%) |
| Death of body tissue due to lack of blood flow or infection | Rar (1–4%) |
Abnormality of the ear
| Trăsătură | Cât de frecvent apare |
|---|---|
| Dizziness | Des (30–79%) |
| Hearing impairment | Des (30–79%) |
Abnormality of the immune system
| Trăsătură | Cât de frecvent apare |
|---|---|
| Abnormality of immune system physiology | Des (30–79%) |
| Chronic infection | Des (30–79%) |
Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.
De unde provin aceste informații
- Human Phenotype Ontology, versiunea 2026-09-01: trăsăturile asociate cu PRKAR1A și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.
AtlasCui ne adresămȘtiința noastrăProduseRezultate
ConectareÎntrebațiSecvențiați-vă genomul↗
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