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Traits

Traits linked to TANGO2

transport and golgi organization 2 homolog

The Human Phenotype Ontology links 88 traits to TANGO2, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

TraitHur ofta den förekommer
Absent speech developmentAlltid
AtaxiaAlltid
Babinski signAlltid
Brisk reflexesAlltid
ClonusAlltid
ComaAlltid
Difficulty articulating speechAlltid
Global developmental delayAlltid
Intellectual disabilityAlltid
Loss of developmental milestonesAlltid
Motor delayAlltid
Repeated seizures without recovery between themAlltid
Abnormality of extrapyramidal motor functionOfta (30–79 %)
Degeneration of cerebrumOfta (30–79 %)
Delayed ability to walkOfta (30–79 %)
Delayed speech and language developmentOfta (30–79 %)
EpilepsyOfta (30–79 %)
Generalized brain degenerationOfta (30–79 %)
IncoordinationOfta (30–79 %)
Involuntary movementsOfta (30–79 %)
Moderate global developmental delayOfta (30–79 %)
DystoniaIbland (5–29 %)
Focal impaired awareness seizureIbland (5–29 %)
Generalized myoclonic seizureIbland (5–29 %)
Generalized tonic seizureIbland (5–29 %)
Grand mal seizuresIbland (5–29 %)
Increased reflexesIbland (5–29 %)
Infantile spasmsIbland (5–29 %)
Mild global developmental delayIbland (5–29 %)
Multifocal seizuresIbland (5–29 %)
Severe global developmental delayIbland (5–29 %)
Abnormal gaitInte registrerat
Hyperactive deep tendon reflexesInte registrerat
Inability to coordinate movements when walkingInte registrerat
Ongoing loss of nerve cellsInte registrerat

Laboratory abnormality

TraitHur ofta den förekommer
Elevated blood creatine phosphokinaseAlltid
Elevated circulating alanine aminotransferase concentrationAlltid
Elevated circulating aldolase concentrationAlltid
Elevated circulating aspartate aminotransferase concentrationAlltid
Metabolic acidosisAlltid
MyoglobinuriaAlltid
Elevated circulating tetradecenoylcarnitine concentrationMycket ofta (80–99 %)
High blood ammonia levelsMycket ofta (80–99 %)
Higher than normal levels of lactate in bloodMycket ofta (80–99 %)
Increased lactate in bodyMycket ofta (80–99 %)
KetonuriaMycket ofta (80–99 %)
High liver enzymesOfta (30–79 %)
Low blood sugarOfta (30–79 %)
Elevated circulating fatty acylcarnitine concentrationIbland (5–29 %)
Hypoglycemic seizuresIbland (5–29 %)

Abnormality of the cardiovascular system

TraitHur ofta den förekommer
Abnormal EKGMycket ofta (80–99 %)
Abnormal heart rateOfta (30–79 %)
Prolonged QT intervalOfta (30–79 %)
Prolonged QTc intervalOfta (30–79 %)
Ventricular tachycardiaOfta (30–79 %)
Enlarged and thickened heart muscleIbland (5–29 %)
Extra heart beatIbland (5–29 %)
Slow heartbeatsIbland (5–29 %)
StrokeIbland (5–29 %)
Torsade de pointesIbland (5–29 %)
Heart stops beatingInte registrerat
Ventricular fibrillationInte registrerat

Abnormality of the musculoskeletal system

TraitHur ofta den förekommer
Lower limb spasticityAlltid
Breakdown of skeletal muscleMycket ofta (80–99 %)
EMG: myopathic abnormalitiesMycket ofta (80–99 %)
Acute rhabdomyolysisOfta (30–79 %)
Spastic diplegiaIbland (5–29 %)
Spastic tetraplegiaIbland (5–29 %)
Spasticity and rigidity of musclesIbland (5–29 %)
Generalized decreased muscle toneInte registrerat
Muscle weaknessInte registrerat

Abnormality of the eye

TraitHur ofta den förekommer
Cerebral visual impairmentIbland (5–29 %)
Involuntary, rapid, rhythmic eye movementsIbland (5–29 %)
Lazy eyeIbland (5–29 %)
Optic atrophyIbland (5–29 %)
Supranuclear gaze palsyIbland (5–29 %)

Abnormality of the digestive system

TraitHur ofta den förekommer
Feeding difficulties in infancyOfta (30–79 %)
Gastrointestinal dysmotilityOfta (30–79 %)
Poor swallowingIbland (5–29 %)
Oral-pharyngeal dysphagiaInte registrerat

Abnormality of the endocrine system

TraitHur ofta den förekommer
Compensated hypothyroidismOfta (30–79 %)
Premature breast developmentIbland (5–29 %)
Premature pubic hair growthIbland (5–29 %)
Underactive thyroidInte registrerat

Abnormality of head or neck

TraitHur ofta den förekommer
DroolingAlltid
Myopathic faciesAlltid
Abnormally small headOfta (30–79 %)

Abnormality of the ear

TraitHur ofta den förekommer
Sensorineural hearing impairmentIbland (5–29 %)

Hur ofta det förekommer hos personer med ett av genens tillstånd, den vanligaste frekvensen bland dem, enligt Human Phenotype Ontology. Dessa sidor beskriver egenskaper och forskningen bakom dem. De är inte en diagnos, och det är läkare eller genetisk rådgivare du bör fråga om symtom.

Varifrån informationen kommer

  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to TANGO2 and how often each is seen. Find out more at hpo.jax.org.

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