Trăsături

Trăsături asociate cu AIP

AHR interacting HSP90 co-chaperone

Human Phenotype Ontology asociază 163 trăsături cu AIP, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Pituitary prolactin cell adenoma	Întotdeauna
Abnormal pituitary gland morphology	Foarte des (80–99%)
Abnormality of the endocrine system	Foarte des (80–99%)
Anterior hypopituitarism	Foarte des (80–99%)
Decreased activity of gonads	Foarte des (80–99%)
Decreased function of male gonad	Foarte des (80–99%)
Female hypogonadism	Foarte des (80–99%)
Growth hormone excess	Foarte des (80–99%)
Hypogonadotropic hypogonadism	Foarte des (80–99%)
Increased circulating insulin-like growth factor 1 concentration	Foarte des (80–99%)
Pituitary growth hormone cell adenoma	Foarte des (80–99%)
Premature pubic hair growth	Foarte des (80–99%)
Adrenocorticotropic hormone deficiency	Des (30–79%)
Adrenocorticotropin deficient adrenal insufficiency	Des (30–79%)
Central adrenal insufficiency	Des (30–79%)
Decreased circulating ACTH concentration	Des (30–79%)
Increased circulating prolactin concentration	Des (30–79%)
Low thyroid gland function due to abnormal pituitary gland	Des (30–79%)
Multinodular goiter	Des (30–79%)
Noncancerous tumor in pituitary gland	Des (30–79%)
Pituitary macroadenoma	Des (30–79%)
Secondary growth hormone deficiency	Des (30–79%)
Adrenal insufficiency	Uneori (5–29%)
Delayed puberty	Uneori (5–29%)
Increased circulating ACTH level	Neînregistrat

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Abnormally large tongue	Foarte des (80–99%)
Big lower jaw	Foarte des (80–99%)
Broad forehead	Foarte des (80–99%)
Coarse facial features	Foarte des (80–99%)
Frontal bossing	Foarte des (80–99%)
Full cheeks	Foarte des (80–99%)
Long face	Foarte des (80–99%)
Wide nose	Foarte des (80–99%)
Abnormal dentition	Des (30–79%)
Broad jaw	Des (30–79%)
Facial shape deformation	Des (30–79%)
Full lips	Des (30–79%)
Fullness of eyelids	Des (30–79%)
Monobrow	Des (30–79%)
Prominent brow	Des (30–79%)
Widely spaced teeth	Des (30–79%)
Bad bite	Uneori (5–29%)
Furrows in thickened skin on top of scalp	Uneori (5–29%)

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Anxiety	Des (30–79%)
Constrictive median neuropathy	Des (30–79%)
Depression	Des (30–79%)
Headache	Des (30–79%)
Migraine	Des (30–79%)
Pauses in breathing while sleeping	Des (30–79%)
Pins and needles feeling	Des (30–79%)
Abducens palsy	Uneori (5–29%)
Cranial nerve paralysis	Uneori (5–29%)
Epilepsy	Uneori (5–29%)
Excessive daytime sleepiness	Uneori (5–29%)
Fourth cranial nerve palsy	Uneori (5–29%)
Too much cerebrospinal fluid in the brain	Uneori (5–29%)
Willis-Ekbom disease	Uneori (5–29%)
Abnormal fear-induced behavior	Neînregistrat
Can't control feelings	Neînregistrat
Psychotic mentation	Neînregistrat

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Abnormal absence of menstruation	Foarte des (80–99%)
Abnormal erection	Foarte des (80–99%)
Abnormality of the menstrual cycle	Foarte des (80–99%)
Decreased female sex drive	Foarte des (80–99%)
Decreased fertility in females	Foarte des (80–99%)
Decreased fertility in males	Foarte des (80–99%)
Difficulty getting a full erection	Foarte des (80–99%)
Menstrual irregularity	Foarte des (80–99%)
Dyspareunia	Des (30–79%)
Painful menstruation	Des (30–79%)
Decreased libido	Uneori (5–29%)
Dull burning sensation with urination	Uneori (5–29%)
Infertility	Uneori (5–29%)
Light or infrequent menstrual periods	Uneori (5–29%)
Previous menstrual periods stop	Uneori (5–29%)
Kidney stone	Neînregistrat

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Excessive sweating	Foarte des (80–99%)
Thickened skin	Foarte des (80–99%)
Abnormal hair quantity	Des (30–79%)
Excessive hairiness over body	Des (30–79%)
Paleness	Des (30–79%)
Skin tags	Des (30–79%)
Darkened and thickened skin	Uneori (5–29%)
Excessive hair growth	Uneori (5–29%)
Generalized hyperpigmentation	Uneori (5–29%)
Excessive hairiness	Neînregistrat
Poor wound healing	Neînregistrat
Stretch marks	Neînregistrat
Thin skin	Neînregistrat

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Progressive loss of vision	Des (30–79%)
Bitemporal hemianopia	Uneori (5–29%)
Blindness	Uneori (5–29%)
Double vision	Uneori (5–29%)
Drooping upper eyelid	Uneori (5–29%)
Eye muscle paralysis	Uneori (5–29%)
Hemianopia	Uneori (5–29%)
Heteronymous hemianopia	Uneori (5–29%)
Internal ophthalmoplegia	Uneori (5–29%)
Oculomotor nerve palsy	Uneori (5–29%)
Partial loss of field of vision	Uneori (5–29%)
Sudden decrease in vision	Uneori (5–29%)

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Joint swelling	Foarte des (80–99%)
Noninsulin-dependent diabetes	Foarte des (80–99%)
Body fails to respond to insulin	Des (30–79%)
Diabetes mellitus	Des (30–79%)
Decreased circulating high-density lipoprotein cholesterol	Uneori (5–29%)
Increased plasma triglycerides	Uneori (5–29%)
Alkalosis	Neînregistrat
Fluid retention	Neînregistrat
Glucose intolerance	Neînregistrat
Impaired glucose tolerance	Neînregistrat
Low blood potassium levels	Neînregistrat

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Advanced bone age	Foarte des (80–99%)
Degenerative joint disease	Foarte des (80–99%)
Hunched back	Des (30–79%)
Narrow spinal canal	Des (30–79%)
Osteopenia	Des (30–79%)
Osteoporosis	Des (30–79%)
Tired easily	Des (30–79%)
Compression fracture of a vertebral body	Uneori (5–29%)
Biconcave vertebral bodies	Neînregistrat
Muscle degeneration	Neînregistrat

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Enlarged and thickened heart muscle	Foarte des (80–99%)
Left ventricular hypertrophy	Foarte des (80–99%)
High blood pressure	Des (30–79%)
Low blood pressure	Des (30–79%)
Abnormal heart rate	Uneori (5–29%)
Abnormal heart valve physiology	Uneori (5–29%)
Mitral regurgitation	Uneori (5–29%)
Blushed cheeks	Neînregistrat
Disease of the heart muscle	Neînregistrat

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Broad foot	Foarte des (80–99%)
Cortical diaphyseal thickening of the upper limbs	Foarte des (80–99%)
Deep palm line	Foarte des (80–99%)
Deep wrinkles in soles of feet	Foarte des (80–99%)
Finger overgrowth	Foarte des (80–99%)
Large hands	Foarte des (80–99%)
Long foot	Foarte des (80–99%)
Tapered finger	Foarte des (80–99%)

Constitutional symptom

Trăsătură	Cât de frecvent apare
Fatigue	Foarte des (80–99%)
Joint pain	Foarte des (80–99%)
Lack of energy and strength	Des (30–79%)
Muscle ache	Uneori (5–29%)
Night sweats	Uneori (5–29%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Acral overgrowth	Foarte des (80–99%)
Proportionate tall stature	Foarte des (80–99%)
Tall stature	Foarte des (80–99%)
Abdominal obesity	Neînregistrat
Obesity	Neînregistrat

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Nausea and vomiting	Des (30–79%)
Vomiting	Des (30–79%)
Gallstones	Uneori (5–29%)
Intestinal polyp	Uneori (5–29%)

Abnormality of blood and blood-forming tissues

Trăsătură	Cât de frecvent apare
Blood spots	Neînregistrat
Bruising susceptibility	Neînregistrat
Ecchymosis	Neînregistrat

Abnormality of the breast

Trăsătură	Cât de frecvent apare
Spontaneous milk flow from breast	Foarte des (80–99%)
Enlarged male breast	Des (30–79%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Large ears	Foarte des (80–99%)
Dizziness	Uneori (5–29%)

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Seborrheic dermatitis	Foarte des (80–99%)
Acne	Uneori (5–29%)

Abnormality of the voice

Trăsătură	Cât de frecvent apare
Hoarse voice	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 AIP și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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