Traits

Traits linked to AIP

AHR interacting HSP90 co-chaperone

The Human Phenotype Ontology links 163 traits to AIP, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the endocrine system

Trait	How often it is seen
Pituitary prolactin cell adenoma	Always
Abnormal pituitary gland morphology	Very often (80–99%)
Abnormality of the endocrine system	Very often (80–99%)
Anterior hypopituitarism	Very often (80–99%)
Decreased activity of gonads	Very often (80–99%)
Decreased function of male gonad	Very often (80–99%)
Female hypogonadism	Very often (80–99%)
Growth hormone excess	Very often (80–99%)
Hypogonadotropic hypogonadism	Very often (80–99%)
Increased circulating insulin-like growth factor 1 concentration	Very often (80–99%)
Pituitary growth hormone cell adenoma	Very often (80–99%)
Premature pubic hair growth	Very often (80–99%)
Adrenocorticotropic hormone deficiency	Often (30–79%)
Adrenocorticotropin deficient adrenal insufficiency	Often (30–79%)
Central adrenal insufficiency	Often (30–79%)
Decreased circulating ACTH concentration	Often (30–79%)
Increased circulating prolactin concentration	Often (30–79%)
Low thyroid gland function due to abnormal pituitary gland	Often (30–79%)
Multinodular goiter	Often (30–79%)
Noncancerous tumor in pituitary gland	Often (30–79%)
Pituitary macroadenoma	Often (30–79%)
Secondary growth hormone deficiency	Often (30–79%)
Adrenal insufficiency	Sometimes (5–29%)
Delayed puberty	Sometimes (5–29%)
Increased circulating ACTH level	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Abnormally large tongue	Very often (80–99%)
Big lower jaw	Very often (80–99%)
Broad forehead	Very often (80–99%)
Coarse facial features	Very often (80–99%)
Frontal bossing	Very often (80–99%)
Full cheeks	Very often (80–99%)
Long face	Very often (80–99%)
Wide nose	Very often (80–99%)
Abnormal dentition	Often (30–79%)
Broad jaw	Often (30–79%)
Facial shape deformation	Often (30–79%)
Full lips	Often (30–79%)
Fullness of eyelids	Often (30–79%)
Monobrow	Often (30–79%)
Prominent brow	Often (30–79%)
Widely spaced teeth	Often (30–79%)
Bad bite	Sometimes (5–29%)
Furrows in thickened skin on top of scalp	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Anxiety	Often (30–79%)
Constrictive median neuropathy	Often (30–79%)
Depression	Often (30–79%)
Headache	Often (30–79%)
Migraine	Often (30–79%)
Pauses in breathing while sleeping	Often (30–79%)
Pins and needles feeling	Often (30–79%)
Abducens palsy	Sometimes (5–29%)
Cranial nerve paralysis	Sometimes (5–29%)
Epilepsy	Sometimes (5–29%)
Excessive daytime sleepiness	Sometimes (5–29%)
Fourth cranial nerve palsy	Sometimes (5–29%)
Too much cerebrospinal fluid in the brain	Sometimes (5–29%)
Willis-Ekbom disease	Sometimes (5–29%)
Abnormal fear-induced behavior	Not recorded
Can't control feelings	Not recorded
Psychotic mentation	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Abnormal absence of menstruation	Very often (80–99%)
Abnormal erection	Very often (80–99%)
Abnormality of the menstrual cycle	Very often (80–99%)
Decreased female sex drive	Very often (80–99%)
Decreased fertility in females	Very often (80–99%)
Decreased fertility in males	Very often (80–99%)
Difficulty getting a full erection	Very often (80–99%)
Menstrual irregularity	Very often (80–99%)
Dyspareunia	Often (30–79%)
Painful menstruation	Often (30–79%)
Decreased libido	Sometimes (5–29%)
Dull burning sensation with urination	Sometimes (5–29%)
Infertility	Sometimes (5–29%)
Light or infrequent menstrual periods	Sometimes (5–29%)
Previous menstrual periods stop	Sometimes (5–29%)
Kidney stone	Not recorded

Abnormality of the integument

Trait	How often it is seen
Excessive sweating	Very often (80–99%)
Thickened skin	Very often (80–99%)
Abnormal hair quantity	Often (30–79%)
Excessive hairiness over body	Often (30–79%)
Paleness	Often (30–79%)
Skin tags	Often (30–79%)
Darkened and thickened skin	Sometimes (5–29%)
Excessive hair growth	Sometimes (5–29%)
Generalized hyperpigmentation	Sometimes (5–29%)
Excessive hairiness	Not recorded
Poor wound healing	Not recorded
Stretch marks	Not recorded
Thin skin	Not recorded

Abnormality of the eye

Trait	How often it is seen
Progressive loss of vision	Often (30–79%)
Bitemporal hemianopia	Sometimes (5–29%)
Blindness	Sometimes (5–29%)
Double vision	Sometimes (5–29%)
Drooping upper eyelid	Sometimes (5–29%)
Eye muscle paralysis	Sometimes (5–29%)
Hemianopia	Sometimes (5–29%)
Heteronymous hemianopia	Sometimes (5–29%)
Internal ophthalmoplegia	Sometimes (5–29%)
Oculomotor nerve palsy	Sometimes (5–29%)
Partial loss of field of vision	Sometimes (5–29%)
Sudden decrease in vision	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Joint swelling	Very often (80–99%)
Noninsulin-dependent diabetes	Very often (80–99%)
Body fails to respond to insulin	Often (30–79%)
Diabetes mellitus	Often (30–79%)
Decreased circulating high-density lipoprotein cholesterol	Sometimes (5–29%)
Increased plasma triglycerides	Sometimes (5–29%)
Alkalosis	Not recorded
Fluid retention	Not recorded
Glucose intolerance	Not recorded
Impaired glucose tolerance	Not recorded
Low blood potassium levels	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Advanced bone age	Very often (80–99%)
Degenerative joint disease	Very often (80–99%)
Hunched back	Often (30–79%)
Narrow spinal canal	Often (30–79%)
Osteopenia	Often (30–79%)
Osteoporosis	Often (30–79%)
Tired easily	Often (30–79%)
Compression fracture of a vertebral body	Sometimes (5–29%)
Biconcave vertebral bodies	Not recorded
Muscle degeneration	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Enlarged and thickened heart muscle	Very often (80–99%)
Left ventricular hypertrophy	Very often (80–99%)
High blood pressure	Often (30–79%)
Low blood pressure	Often (30–79%)
Abnormal heart rate	Sometimes (5–29%)
Abnormal heart valve physiology	Sometimes (5–29%)
Mitral regurgitation	Sometimes (5–29%)
Blushed cheeks	Not recorded
Disease of the heart muscle	Not recorded

Abnormality of limbs

Trait	How often it is seen
Broad foot	Very often (80–99%)
Cortical diaphyseal thickening of the upper limbs	Very often (80–99%)
Deep palm line	Very often (80–99%)
Deep wrinkles in soles of feet	Very often (80–99%)
Finger overgrowth	Very often (80–99%)
Large hands	Very often (80–99%)
Long foot	Very often (80–99%)
Tapered finger	Very often (80–99%)

Constitutional symptom

Trait	How often it is seen
Fatigue	Very often (80–99%)
Joint pain	Very often (80–99%)
Lack of energy and strength	Often (30–79%)
Muscle ache	Sometimes (5–29%)
Night sweats	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Acral overgrowth	Very often (80–99%)
Proportionate tall stature	Very often (80–99%)
Tall stature	Very often (80–99%)
Abdominal obesity	Not recorded
Obesity	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Nausea and vomiting	Often (30–79%)
Vomiting	Often (30–79%)
Gallstones	Sometimes (5–29%)
Intestinal polyp	Sometimes (5–29%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Blood spots	Not recorded
Bruising susceptibility	Not recorded
Ecchymosis	Not recorded

Abnormality of the breast

Trait	How often it is seen
Spontaneous milk flow from breast	Very often (80–99%)
Enlarged male breast	Often (30–79%)

Abnormality of the ear

Trait	How often it is seen
Large ears	Very often (80–99%)
Dizziness	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Seborrheic dermatitis	Very often (80–99%)
Acne	Sometimes (5–29%)

Abnormality of the voice

Trait	How often it is seen
Hoarse voice	Often (30–79%)

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the traits linked to AIP and how often each is seen. Find out more at hpo.jax.org.

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