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Tunnused
Geeniga AIP seotud tunnused
AHR interacting HSP90 co-chaperone
Inimese fenotüübi ontoloogia seostab geeniga AIP 163 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.
AtlasKellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
AtlasKellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
Abnormality of the endocrine system
Abnormality of head or neck
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Abnormally large tongue | Väga sageli (80–99%) |
| Big lower jaw | Väga sageli (80–99%) |
| Broad forehead | Väga sageli (80–99%) |
| Coarse facial features | Väga sageli (80–99%) |
| Frontal bossing | Väga sageli (80–99%) |
| Full cheeks | Väga sageli (80–99%) |
| Long face | Väga sageli (80–99%) |
| Wide nose | Väga sageli (80–99%) |
| Abnormal dentition | Sageli (30–79%) |
| Broad jaw | Sageli (30–79%) |
| Facial shape deformation | Sageli (30–79%) |
| Full lips | Sageli (30–79%) |
| Fullness of eyelids | Sageli (30–79%) |
| Monobrow | Sageli (30–79%) |
| Prominent brow | Sageli (30–79%) |
| Widely spaced teeth | Sageli (30–79%) |
| Bad bite | Mõnikord (5–29%) |
| Furrows in thickened skin on top of scalp | Mõnikord (5–29%) |
Abnormality of the nervous system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Anxiety | Sageli (30–79%) |
| Constrictive median neuropathy | Sageli (30–79%) |
| Depression | Sageli (30–79%) |
| Headache | Sageli (30–79%) |
| Migraine | Sageli (30–79%) |
| Pauses in breathing while sleeping | Sageli (30–79%) |
| Pins and needles feeling | Sageli (30–79%) |
| Abducens palsy | Mõnikord (5–29%) |
| Cranial nerve paralysis | Mõnikord (5–29%) |
| Epilepsy | Mõnikord (5–29%) |
| Excessive daytime sleepiness | Mõnikord (5–29%) |
| Fourth cranial nerve palsy | Mõnikord (5–29%) |
| Too much cerebrospinal fluid in the brain | Mõnikord (5–29%) |
| Willis-Ekbom disease | Mõnikord (5–29%) |
| Abnormal fear-induced behavior | Pole registreeritud |
| Can't control feelings | Pole registreeritud |
| Psychotic mentation | Pole registreeritud |
Abnormality of the genitourinary system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Abnormal absence of menstruation | Väga sageli (80–99%) |
| Abnormal erection | Väga sageli (80–99%) |
| Abnormality of the menstrual cycle | Väga sageli (80–99%) |
| Decreased female sex drive | Väga sageli (80–99%) |
| Decreased fertility in females | Väga sageli (80–99%) |
| Decreased fertility in males | Väga sageli (80–99%) |
| Difficulty getting a full erection | Väga sageli (80–99%) |
| Menstrual irregularity | Väga sageli (80–99%) |
| Dyspareunia | Sageli (30–79%) |
| Painful menstruation | Sageli (30–79%) |
| Decreased libido | Mõnikord (5–29%) |
| Dull burning sensation with urination | Mõnikord (5–29%) |
| Infertility | Mõnikord (5–29%) |
| Light or infrequent menstrual periods | Mõnikord (5–29%) |
| Previous menstrual periods stop | Mõnikord (5–29%) |
| Kidney stone | Pole registreeritud |
Abnormality of the integument
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Excessive sweating | Väga sageli (80–99%) |
| Thickened skin | Väga sageli (80–99%) |
| Abnormal hair quantity | Sageli (30–79%) |
| Excessive hairiness over body | Sageli (30–79%) |
| Paleness | Sageli (30–79%) |
| Skin tags | Sageli (30–79%) |
| Darkened and thickened skin | Mõnikord (5–29%) |
| Excessive hair growth | Mõnikord (5–29%) |
| Generalized hyperpigmentation | Mõnikord (5–29%) |
| Excessive hairiness | Pole registreeritud |
| Poor wound healing | Pole registreeritud |
| Stretch marks | Pole registreeritud |
| Thin skin | Pole registreeritud |
Abnormality of the eye
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Progressive loss of vision | Sageli (30–79%) |
| Bitemporal hemianopia | Mõnikord (5–29%) |
| Blindness | Mõnikord (5–29%) |
| Double vision | Mõnikord (5–29%) |
| Drooping upper eyelid | Mõnikord (5–29%) |
| Eye muscle paralysis | Mõnikord (5–29%) |
| Hemianopia | Mõnikord (5–29%) |
| Heteronymous hemianopia | Mõnikord (5–29%) |
| Internal ophthalmoplegia | Mõnikord (5–29%) |
| Oculomotor nerve palsy | Mõnikord (5–29%) |
| Partial loss of field of vision | Mõnikord (5–29%) |
| Sudden decrease in vision | Mõnikord (5–29%) |
Laboratory abnormality
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Joint swelling | Väga sageli (80–99%) |
| Noninsulin-dependent diabetes | Väga sageli (80–99%) |
| Body fails to respond to insulin | Sageli (30–79%) |
| Diabetes mellitus | Sageli (30–79%) |
| Decreased circulating high-density lipoprotein cholesterol | Mõnikord (5–29%) |
| Increased plasma triglycerides | Mõnikord (5–29%) |
| Alkalosis | Pole registreeritud |
| Fluid retention | Pole registreeritud |
| Glucose intolerance | Pole registreeritud |
| Impaired glucose tolerance | Pole registreeritud |
| Low blood potassium levels | Pole registreeritud |
Abnormality of the musculoskeletal system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Advanced bone age | Väga sageli (80–99%) |
| Degenerative joint disease | Väga sageli (80–99%) |
| Hunched back | Sageli (30–79%) |
| Narrow spinal canal | Sageli (30–79%) |
| Osteopenia | Sageli (30–79%) |
| Osteoporosis | Sageli (30–79%) |
| Tired easily | Sageli (30–79%) |
| Compression fracture of a vertebral body | Mõnikord (5–29%) |
| Biconcave vertebral bodies | Pole registreeritud |
| Muscle degeneration | Pole registreeritud |
Abnormality of the cardiovascular system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Enlarged and thickened heart muscle | Väga sageli (80–99%) |
| Left ventricular hypertrophy | Väga sageli (80–99%) |
| High blood pressure | Sageli (30–79%) |
| Low blood pressure | Sageli (30–79%) |
| Abnormal heart rate | Mõnikord (5–29%) |
| Abnormal heart valve physiology | Mõnikord (5–29%) |
| Mitral regurgitation | Mõnikord (5–29%) |
| Blushed cheeks | Pole registreeritud |
| Disease of the heart muscle | Pole registreeritud |
Abnormality of limbs
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Broad foot | Väga sageli (80–99%) |
| Cortical diaphyseal thickening of the upper limbs | Väga sageli (80–99%) |
| Deep palm line | Väga sageli (80–99%) |
| Deep wrinkles in soles of feet | Väga sageli (80–99%) |
| Finger overgrowth | Väga sageli (80–99%) |
| Large hands | Väga sageli (80–99%) |
| Long foot | Väga sageli (80–99%) |
| Tapered finger | Väga sageli (80–99%) |
Constitutional symptom
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Fatigue | Väga sageli (80–99%) |
| Joint pain | Väga sageli (80–99%) |
| Lack of energy and strength | Sageli (30–79%) |
| Muscle ache | Mõnikord (5–29%) |
| Night sweats | Mõnikord (5–29%) |
Growth abnormality
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Acral overgrowth | Väga sageli (80–99%) |
| Proportionate tall stature | Väga sageli (80–99%) |
| Tall stature | Väga sageli (80–99%) |
| Abdominal obesity | Pole registreeritud |
| Obesity | Pole registreeritud |
Abnormality of the digestive system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Nausea and vomiting | Sageli (30–79%) |
| Vomiting | Sageli (30–79%) |
| Gallstones | Mõnikord (5–29%) |
| Intestinal polyp | Mõnikord (5–29%) |
Abnormality of blood and blood-forming tissues
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Blood spots | Pole registreeritud |
| Bruising susceptibility | Pole registreeritud |
| Ecchymosis | Pole registreeritud |
Abnormality of the breast
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Spontaneous milk flow from breast | Väga sageli (80–99%) |
| Enlarged male breast | Sageli (30–79%) |
Abnormality of the ear
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Large ears | Väga sageli (80–99%) |
| Dizziness | Mõnikord (5–29%) |
Abnormality of the immune system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Seborrheic dermatitis | Väga sageli (80–99%) |
| Acne | Mõnikord (5–29%) |
Abnormality of the voice
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Hoarse voice | 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 AIP seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.
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