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

Trait	Kui sageli seda täheldatakse
Absent speech development	Alati
Ataxia	Alati
Babinski sign	Alati
Brisk reflexes	Alati
Clonus	Alati
Coma	Alati
Difficulty articulating speech	Alati
Global developmental delay	Alati
Intellectual disability	Alati
Loss of developmental milestones	Alati
Motor delay	Alati
Repeated seizures without recovery between them	Alati
Abnormality of extrapyramidal motor function	Sageli (30–79%)
Degeneration of cerebrum	Sageli (30–79%)
Delayed ability to walk	Sageli (30–79%)
Delayed speech and language development	Sageli (30–79%)
Epilepsy	Sageli (30–79%)
Generalized brain degeneration	Sageli (30–79%)
Incoordination	Sageli (30–79%)
Involuntary movements	Sageli (30–79%)
Moderate global developmental delay	Sageli (30–79%)
Dystonia	Mõnikord (5–29%)
Focal impaired awareness seizure	Mõnikord (5–29%)
Generalized myoclonic seizure	Mõnikord (5–29%)
Generalized tonic seizure	Mõnikord (5–29%)
Grand mal seizures	Mõnikord (5–29%)
Increased reflexes	Mõnikord (5–29%)
Infantile spasms	Mõnikord (5–29%)
Mild global developmental delay	Mõnikord (5–29%)
Multifocal seizures	Mõnikord (5–29%)
Severe global developmental delay	Mõnikord (5–29%)
Abnormal gait	Pole registreeritud
Hyperactive deep tendon reflexes	Pole registreeritud
Inability to coordinate movements when walking	Pole registreeritud
Ongoing loss of nerve cells	Pole registreeritud

Laboratory abnormality

Trait	Kui sageli seda täheldatakse
Elevated blood creatine phosphokinase	Alati
Elevated circulating alanine aminotransferase concentration	Alati
Elevated circulating aldolase concentration	Alati
Elevated circulating aspartate aminotransferase concentration	Alati
Metabolic acidosis	Alati
Myoglobinuria	Alati
Elevated circulating tetradecenoylcarnitine concentration	Väga sageli (80–99%)
High blood ammonia levels	Väga sageli (80–99%)
Higher than normal levels of lactate in blood	Väga sageli (80–99%)
Increased lactate in body	Väga sageli (80–99%)
Ketonuria	Väga sageli (80–99%)
High liver enzymes	Sageli (30–79%)
Low blood sugar	Sageli (30–79%)
Elevated circulating fatty acylcarnitine concentration	Mõnikord (5–29%)
Hypoglycemic seizures	Mõnikord (5–29%)

Abnormality of the cardiovascular system

Trait	Kui sageli seda täheldatakse
Abnormal EKG	Väga sageli (80–99%)
Abnormal heart rate	Sageli (30–79%)
Prolonged QT interval	Sageli (30–79%)
Prolonged QTc interval	Sageli (30–79%)
Ventricular tachycardia	Sageli (30–79%)
Enlarged and thickened heart muscle	Mõnikord (5–29%)
Extra heart beat	Mõnikord (5–29%)
Slow heartbeats	Mõnikord (5–29%)
Stroke	Mõnikord (5–29%)
Torsade de pointes	Mõnikord (5–29%)
Heart stops beating	Pole registreeritud
Ventricular fibrillation	Pole registreeritud

Abnormality of the musculoskeletal system

Trait	Kui sageli seda täheldatakse
Lower limb spasticity	Alati
Breakdown of skeletal muscle	Väga sageli (80–99%)
EMG: myopathic abnormalities	Väga sageli (80–99%)
Acute rhabdomyolysis	Sageli (30–79%)
Spastic diplegia	Mõnikord (5–29%)
Spastic tetraplegia	Mõnikord (5–29%)
Spasticity and rigidity of muscles	Mõnikord (5–29%)
Generalized decreased muscle tone	Pole registreeritud
Muscle weakness	Pole registreeritud

Abnormality of the eye

Trait	Kui sageli seda täheldatakse
Cerebral visual impairment	Mõnikord (5–29%)
Involuntary, rapid, rhythmic eye movements	Mõnikord (5–29%)
Lazy eye	Mõnikord (5–29%)
Optic atrophy	Mõnikord (5–29%)
Supranuclear gaze palsy	Mõnikord (5–29%)

Abnormality of the digestive system

Trait	Kui sageli seda täheldatakse
Feeding difficulties in infancy	Sageli (30–79%)
Gastrointestinal dysmotility	Sageli (30–79%)
Poor swallowing	Mõnikord (5–29%)
Oral-pharyngeal dysphagia	Pole registreeritud

Abnormality of the endocrine system

Trait	Kui sageli seda täheldatakse
Compensated hypothyroidism	Sageli (30–79%)
Premature breast development	Mõnikord (5–29%)
Premature pubic hair growth	Mõnikord (5–29%)
Underactive thyroid	Pole registreeritud

Abnormality of head or neck

Trait	Kui sageli seda täheldatakse
Drooling	Alati
Myopathic facies	Alati
Abnormally small head	Sageli (30–79%)

Abnormality of the ear

Trait	Kui sageli seda täheldatakse
Sensorineural hearing impairment	Mõnikord (5–29%)

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 TANGO2 and how often each is seen. Find out more at hpo.jax.org.

Üks test. Vastused kogu eluks.

Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast

Telli oma Genome Test