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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.
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Abnormality of the cardiovascular system
| Trait | Kui sageli seda täheldatakse |
|---|---|
| An opening in the wall separating the top two chambers of the heart | Alati |
| Decrease in blood pressure upon standing up | Sageli (30–79%) |
| Fainting spell | Sageli (30–79%) |
| High blood pressure | Sageli (30–79%) |
| Hypertension associated with pheochromocytoma | Sageli (30–79%) |
| Hypertensive retinopathy | Sageli (30–79%) |
| Palpitations | Sageli (30–79%) |
| Patent foramen ovale | Sageli (30–79%) |
| Positive regitine blocking test | Sageli (30–79%) |
| Sinus tachycardia | Sageli (30–79%) |
| Arachnoid hemangiomatosis | Mõnikord (5–29%) |
| Cardiac failure | Mõnikord (5–29%) |
| Disease of the heart muscle | Mõnikord (5–29%) |
| Hypertensive crisis | Mõnikord (5–29%) |
| Inflammation of heart muscle | Mõnikord (5–29%) |
| Elevated heart rate | Pole registreeritud |
| Intermittent high blood pressure | Pole registreeritud |
| Narrowing of kidney artery | Pole registreeritud |
| Strawberry mark | Pole registreeritud |
Abnormality of the nervous system
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Autism spectrum disorder | Alati |
| Episodic paroxysmal anxiety | Sageli (30–79%) |
| Global developmental delay | Sageli (30–79%) |
| Recurrent paroxysmal headache | Sageli (30–79%) |
| Ventriculomegaly | Sageli (30–79%) |
| Cranial nerve compression | Mõnikord (5–29%) |
| Inability to move vocal cords | Mõnikord (5–29%) |
| Panic attack | Mõnikord (5–29%) |
| Tremor | Mõnikord (5–29%) |
Laboratory abnormality
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Elevated urinary dopamine | Sageli (30–79%) |
| Elevated urinary epinephrine level | Sageli (30–79%) |
| Elevated urinary norepinephrine level | Sageli (30–79%) |
| High blood calcium levels | Sageli (30–79%) |
| High urine protein levels | Sageli (30–79%) |
| Blood in urine | Mõnikord (5–29%) |
| Elevated calcitonin | Mõnikord (5–29%) |
| High blood sugar | Mõnikord (5–29%) |
Abnormality of the eye
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Abnormally small eyeball | Sageli (30–79%) |
| Birth defect that causes a hole in the innermost layer at the back of the eye | Sageli (30–79%) |
| Clouding of the lens of the eye | Sageli (30–79%) |
| Serous retinal detachment | Sageli (30–79%) |
| Absent iris | Harva (1–4%) |
| Clouding of the lens of the eye at birth | Pole registreeritud |
Abnormality of the digestive system
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Intermittent abdominal pain | Sageli (30–79%) |
| Nausea | Sageli (30–79%) |
| Perianal abscess | Sageli (30–79%) |
| Abdominal mass | Mõnikord (5–29%) |
| Constipation | Mõnikord (5–29%) |
Abnormality of the endocrine system
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Adrenal pheochromocytoma | Väga sageli (80–99%) |
| Extraadrenal pheochromocytoma | Väga sageli (80–99%) |
| Paraganglioma | Väga sageli (80–99%) |
| Paraganglioma of head and neck | Sageli (30–79%) |
| Pheochromocytoma | Pole registreeritud |
Abnormality of the genitourinary system
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Absent kidney | Sageli (30–79%) |
| Glomerular sclerosis | Sageli (30–79%) |
| Hypospadias | Sageli (30–79%) |
| Cancer starting in small tubes in kidneys | Mõnikord (5–29%) |
| Renal failure | Mõnikord (5–29%) |
Abnormality of the integument
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Flushing | Sageli (30–79%) |
| Sporadic excessive sweating | Sageli (30–79%) |
| Paleness | Mõnikord (5–29%) |
| Birthmark | Pole registreeritud |
| Excessive sweating | Pole registreeritud |
Abnormality of the ear
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Paroxysmal vertigo | Sageli (30–79%) |
| Pulsatile tinnitus | Sageli (30–79%) |
| Conductive deafness | Mõnikord (5–29%) |
Abnormality of head or neck
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Big calvaria | Sageli (30–79%) |
| Retinal capillary hemangioma | Mõnikord (5–29%) |
Abnormality of limbs
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Extra little finger | Alati |
| Extra toe attached near the little toe | Alati |
Abnormality of the musculoskeletal system
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Pigeon chest | Sageli (30–79%) |
| Thoracic platyspondyly | Sageli (30–79%) |
Constitutional symptom
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Chest pain | Sageli (30–79%) |
| Fatigue | Sageli (30–79%) |
Abnormal tissue mass
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Abnormal tissue mass | Pole registreeritud |
Abnormality of blood and blood-forming tissues
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Bleeding in brain | Sageli (30–79%) |
Abnormality of prenatal development or birth
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Only one artery in umbilical cord instead of two | Sageli (30–79%) |
Abnormality of the voice
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Inability to produce voice sounds | Sageli (30–79%) |
Growth abnormality
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Weight loss | Sageli (30–79%) |
Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.
Allikas
- 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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