Traits

Traits linked to MAX

MYC associated transcriptional regulator X

The Human Phenotype Ontology links 78 traits to MAX, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the cardiovascular system

Trait	How often it is seen
An opening in the wall separating the top two chambers of the heart	Always
Decrease in blood pressure upon standing up	Often (30–79%)
Fainting spell	Often (30–79%)
High blood pressure	Often (30–79%)
Hypertension associated with pheochromocytoma	Often (30–79%)
Hypertensive retinopathy	Often (30–79%)
Palpitations	Often (30–79%)
Patent foramen ovale	Often (30–79%)
Positive regitine blocking test	Often (30–79%)
Sinus tachycardia	Often (30–79%)
Arachnoid hemangiomatosis	Sometimes (5–29%)
Cardiac failure	Sometimes (5–29%)
Disease of the heart muscle	Sometimes (5–29%)
Hypertensive crisis	Sometimes (5–29%)
Inflammation of heart muscle	Sometimes (5–29%)
Elevated heart rate	Not recorded
Intermittent high blood pressure	Not recorded
Narrowing of kidney artery	Not recorded
Strawberry mark	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Autism spectrum disorder	Always
Episodic paroxysmal anxiety	Often (30–79%)
Global developmental delay	Often (30–79%)
Recurrent paroxysmal headache	Often (30–79%)
Ventriculomegaly	Often (30–79%)
Cranial nerve compression	Sometimes (5–29%)
Inability to move vocal cords	Sometimes (5–29%)
Panic attack	Sometimes (5–29%)
Tremor	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Elevated urinary dopamine	Often (30–79%)
Elevated urinary epinephrine level	Often (30–79%)
Elevated urinary norepinephrine level	Often (30–79%)
High blood calcium levels	Often (30–79%)
High urine protein levels	Often (30–79%)
Blood in urine	Sometimes (5–29%)
Elevated calcitonin	Sometimes (5–29%)
High blood sugar	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Abnormally small eyeball	Often (30–79%)
Birth defect that causes a hole in the innermost layer at the back of the eye	Often (30–79%)
Clouding of the lens of the eye	Often (30–79%)
Serous retinal detachment	Often (30–79%)
Absent iris	Rarely (1–4%)
Clouding of the lens of the eye at birth	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Intermittent abdominal pain	Often (30–79%)
Nausea	Often (30–79%)
Perianal abscess	Often (30–79%)
Abdominal mass	Sometimes (5–29%)
Constipation	Sometimes (5–29%)

Abnormality of the endocrine system

Trait	How often it is seen
Adrenal pheochromocytoma	Very often (80–99%)
Extraadrenal pheochromocytoma	Very often (80–99%)
Paraganglioma	Very often (80–99%)
Paraganglioma of head and neck	Often (30–79%)
Pheochromocytoma	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Absent kidney	Often (30–79%)
Glomerular sclerosis	Often (30–79%)
Hypospadias	Often (30–79%)
Cancer starting in small tubes in kidneys	Sometimes (5–29%)
Renal failure	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Flushing	Often (30–79%)
Sporadic excessive sweating	Often (30–79%)
Paleness	Sometimes (5–29%)
Birthmark	Not recorded
Excessive sweating	Not recorded

Abnormality of the ear

Trait	How often it is seen
Paroxysmal vertigo	Often (30–79%)
Pulsatile tinnitus	Often (30–79%)
Conductive deafness	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Big calvaria	Often (30–79%)
Retinal capillary hemangioma	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Extra little finger	Always
Extra toe attached near the little toe	Always

Abnormality of the musculoskeletal system

Trait	How often it is seen
Pigeon chest	Often (30–79%)
Thoracic platyspondyly	Often (30–79%)

Constitutional symptom

Trait	How often it is seen
Chest pain	Often (30–79%)
Fatigue	Often (30–79%)

Abnormal tissue mass

Trait	How often it is seen
Abnormal tissue mass	Not recorded

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Bleeding in brain	Often (30–79%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Only one artery in umbilical cord instead of two	Often (30–79%)

Abnormality of the voice

Trait	How often it is seen
Inability to produce voice sounds	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Weight loss	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 MAX and how often each is seen. Find out more at hpo.jax.org.

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