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	Hvor ofte den forekommer
An opening in the wall separating the top two chambers of the heart	Alltid
Decrease in blood pressure upon standing up	Ofte (30–79 %)
Fainting spell	Ofte (30–79 %)
High blood pressure	Ofte (30–79 %)
Hypertension associated with pheochromocytoma	Ofte (30–79 %)
Hypertensive retinopathy	Ofte (30–79 %)
Palpitations	Ofte (30–79 %)
Patent foramen ovale	Ofte (30–79 %)
Positive regitine blocking test	Ofte (30–79 %)
Sinus tachycardia	Ofte (30–79 %)
Arachnoid hemangiomatosis	Noen ganger (5–29 %)
Cardiac failure	Noen ganger (5–29 %)
Disease of the heart muscle	Noen ganger (5–29 %)
Hypertensive crisis	Noen ganger (5–29 %)
Inflammation of heart muscle	Noen ganger (5–29 %)
Elevated heart rate	Ikke registrert
Intermittent high blood pressure	Ikke registrert
Narrowing of kidney artery	Ikke registrert
Strawberry mark	Ikke registrert

Abnormality of the nervous system

Trait	Hvor ofte den forekommer
Autism spectrum disorder	Alltid
Episodic paroxysmal anxiety	Ofte (30–79 %)
Global developmental delay	Ofte (30–79 %)
Recurrent paroxysmal headache	Ofte (30–79 %)
Ventriculomegaly	Ofte (30–79 %)
Cranial nerve compression	Noen ganger (5–29 %)
Inability to move vocal cords	Noen ganger (5–29 %)
Panic attack	Noen ganger (5–29 %)
Tremor	Noen ganger (5–29 %)

Laboratory abnormality

Trait	Hvor ofte den forekommer
Elevated urinary dopamine	Ofte (30–79 %)
Elevated urinary epinephrine level	Ofte (30–79 %)
Elevated urinary norepinephrine level	Ofte (30–79 %)
High blood calcium levels	Ofte (30–79 %)
High urine protein levels	Ofte (30–79 %)
Blood in urine	Noen ganger (5–29 %)
Elevated calcitonin	Noen ganger (5–29 %)
High blood sugar	Noen ganger (5–29 %)

Abnormality of the eye

Trait	Hvor ofte den forekommer
Abnormally small eyeball	Ofte (30–79 %)
Birth defect that causes a hole in the innermost layer at the back of the eye	Ofte (30–79 %)
Clouding of the lens of the eye	Ofte (30–79 %)
Serous retinal detachment	Ofte (30–79 %)
Absent iris	Sjelden (1–4%)
Clouding of the lens of the eye at birth	Ikke registrert

Abnormality of the digestive system

Trait	Hvor ofte den forekommer
Intermittent abdominal pain	Ofte (30–79 %)
Nausea	Ofte (30–79 %)
Perianal abscess	Ofte (30–79 %)
Abdominal mass	Noen ganger (5–29 %)
Constipation	Noen ganger (5–29 %)

Abnormality of the endocrine system

Trait	Hvor ofte den forekommer
Adrenal pheochromocytoma	Svært ofte (80–99 %)
Extraadrenal pheochromocytoma	Svært ofte (80–99 %)
Paraganglioma	Svært ofte (80–99 %)
Paraganglioma of head and neck	Ofte (30–79 %)
Pheochromocytoma	Ikke registrert

Abnormality of the genitourinary system

Trait	Hvor ofte den forekommer
Absent kidney	Ofte (30–79 %)
Glomerular sclerosis	Ofte (30–79 %)
Hypospadias	Ofte (30–79 %)
Cancer starting in small tubes in kidneys	Noen ganger (5–29 %)
Renal failure	Noen ganger (5–29 %)

Abnormality of the integument

Trait	Hvor ofte den forekommer
Flushing	Ofte (30–79 %)
Sporadic excessive sweating	Ofte (30–79 %)
Paleness	Noen ganger (5–29 %)
Birthmark	Ikke registrert
Excessive sweating	Ikke registrert

Abnormality of the ear

Trait	Hvor ofte den forekommer
Paroxysmal vertigo	Ofte (30–79 %)
Pulsatile tinnitus	Ofte (30–79 %)
Conductive deafness	Noen ganger (5–29 %)

Abnormality of head or neck

Trait	Hvor ofte den forekommer
Big calvaria	Ofte (30–79 %)
Retinal capillary hemangioma	Noen ganger (5–29 %)

Abnormality of limbs

Trait	Hvor ofte den forekommer
Extra little finger	Alltid
Extra toe attached near the little toe	Alltid

Abnormality of the musculoskeletal system

Trait	Hvor ofte den forekommer
Pigeon chest	Ofte (30–79 %)
Thoracic platyspondyly	Ofte (30–79 %)

Constitutional symptom

Trait	Hvor ofte den forekommer
Chest pain	Ofte (30–79 %)
Fatigue	Ofte (30–79 %)

Abnormal tissue mass

Trait	Hvor ofte den forekommer
Abnormal tissue mass	Ikke registrert

Abnormality of blood and blood-forming tissues

Trait	Hvor ofte den forekommer
Bleeding in brain	Ofte (30–79 %)

Abnormality of prenatal development or birth

Trait	Hvor ofte den forekommer
Only one artery in umbilical cord instead of two	Ofte (30–79 %)

Abnormality of the voice

Trait	Hvor ofte den forekommer
Inability to produce voice sounds	Ofte (30–79 %)

Growth abnormality

Trait	Hvor ofte den forekommer
Weight loss	Ofte (30–79 %)

Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.

Slik er informasjonen samlet

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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