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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.
AtlasCui ne adresămȘtiința noastrăProduseRezultate
ConectareÎntrebațiSecvențiați-vă genomul↗
AtlasCui ne adresămȘtiința noastrăProduseRezultate
ConectareÎntrebațiSecvențiați-vă genomul↗
Abnormality of the cardiovascular system
| Trait | Cât de frecvent apare |
|---|---|
| An opening in the wall separating the top two chambers of the heart | Întotdeauna |
| Decrease in blood pressure upon standing up | Des (30–79%) |
| Fainting spell | Des (30–79%) |
| High blood pressure | Des (30–79%) |
| Hypertension associated with pheochromocytoma | Des (30–79%) |
| Hypertensive retinopathy | Des (30–79%) |
| Palpitations | Des (30–79%) |
| Patent foramen ovale | Des (30–79%) |
| Positive regitine blocking test | Des (30–79%) |
| Sinus tachycardia | Des (30–79%) |
| Arachnoid hemangiomatosis | Uneori (5–29%) |
| Cardiac failure | Uneori (5–29%) |
| Disease of the heart muscle | Uneori (5–29%) |
| Hypertensive crisis | Uneori (5–29%) |
| Inflammation of heart muscle | Uneori (5–29%) |
| Elevated heart rate | Neînregistrat |
| Intermittent high blood pressure | Neînregistrat |
| Narrowing of kidney artery | Neînregistrat |
| Strawberry mark | Neînregistrat |
Abnormality of the nervous system
| Trait | Cât de frecvent apare |
|---|---|
| Autism spectrum disorder | Întotdeauna |
| Episodic paroxysmal anxiety | Des (30–79%) |
| Global developmental delay | Des (30–79%) |
| Recurrent paroxysmal headache | Des (30–79%) |
| Ventriculomegaly | Des (30–79%) |
| Cranial nerve compression | Uneori (5–29%) |
| Inability to move vocal cords | Uneori (5–29%) |
| Panic attack | Uneori (5–29%) |
| Tremor | Uneori (5–29%) |
Laboratory abnormality
| Trait | Cât de frecvent apare |
|---|---|
| Elevated urinary dopamine | Des (30–79%) |
| Elevated urinary epinephrine level | Des (30–79%) |
| Elevated urinary norepinephrine level | Des (30–79%) |
| High blood calcium levels | Des (30–79%) |
| High urine protein levels | Des (30–79%) |
| Blood in urine | Uneori (5–29%) |
| Elevated calcitonin | Uneori (5–29%) |
| High blood sugar | Uneori (5–29%) |
Abnormality of the eye
| Trait | Cât de frecvent apare |
|---|---|
| Abnormally small eyeball | Des (30–79%) |
| Birth defect that causes a hole in the innermost layer at the back of the eye | Des (30–79%) |
| Clouding of the lens of the eye | Des (30–79%) |
| Serous retinal detachment | Des (30–79%) |
| Absent iris | Rar (1–4%) |
| Clouding of the lens of the eye at birth | Neînregistrat |
Abnormality of the digestive system
| Trait | Cât de frecvent apare |
|---|---|
| Intermittent abdominal pain | Des (30–79%) |
| Nausea | Des (30–79%) |
| Perianal abscess | Des (30–79%) |
| Abdominal mass | Uneori (5–29%) |
| Constipation | Uneori (5–29%) |
Abnormality of the endocrine system
| Trait | Cât de frecvent apare |
|---|---|
| Adrenal pheochromocytoma | Foarte des (80–99%) |
| Extraadrenal pheochromocytoma | Foarte des (80–99%) |
| Paraganglioma | Foarte des (80–99%) |
| Paraganglioma of head and neck | Des (30–79%) |
| Pheochromocytoma | Neînregistrat |
Abnormality of the genitourinary system
| Trait | Cât de frecvent apare |
|---|---|
| Absent kidney | Des (30–79%) |
| Glomerular sclerosis | Des (30–79%) |
| Hypospadias | Des (30–79%) |
| Cancer starting in small tubes in kidneys | Uneori (5–29%) |
| Renal failure | Uneori (5–29%) |
Abnormality of the integument
| Trait | Cât de frecvent apare |
|---|---|
| Flushing | Des (30–79%) |
| Sporadic excessive sweating | Des (30–79%) |
| Paleness | Uneori (5–29%) |
| Birthmark | Neînregistrat |
| Excessive sweating | Neînregistrat |
Abnormality of the ear
| Trait | Cât de frecvent apare |
|---|---|
| Paroxysmal vertigo | Des (30–79%) |
| Pulsatile tinnitus | Des (30–79%) |
| Conductive deafness | Uneori (5–29%) |
Abnormality of head or neck
| Trait | Cât de frecvent apare |
|---|---|
| Big calvaria | Des (30–79%) |
| Retinal capillary hemangioma | Uneori (5–29%) |
Abnormality of limbs
| Trait | Cât de frecvent apare |
|---|---|
| Extra little finger | Întotdeauna |
| Extra toe attached near the little toe | Întotdeauna |
Abnormality of the musculoskeletal system
| Trait | Cât de frecvent apare |
|---|---|
| Pigeon chest | Des (30–79%) |
| Thoracic platyspondyly | Des (30–79%) |
Constitutional symptom
| Trait | Cât de frecvent apare |
|---|---|
| Chest pain | Des (30–79%) |
| Fatigue | Des (30–79%) |
Abnormal tissue mass
| Trait | Cât de frecvent apare |
|---|---|
| Abnormal tissue mass | Neînregistrat |
Abnormality of blood and blood-forming tissues
| Trait | Cât de frecvent apare |
|---|---|
| Bleeding in brain | Des (30–79%) |
Abnormality of prenatal development or birth
| Trait | Cât de frecvent apare |
|---|---|
| Only one artery in umbilical cord instead of two | Des (30–79%) |
Abnormality of the voice
| Trait | Cât de frecvent apare |
|---|---|
| Inability to produce voice sounds | Des (30–79%) |
Growth abnormality
| Trait | Cât de frecvent apare |
|---|---|
| Weight loss | 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
- 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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