Tunnused

Geeniga ALG2 seotud tunnused

ALG2 alpha-1,3/1,6-mannosyltransferase

Inimese fenotüübi ontoloogia seostab geeniga ALG2 96 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

ALG2

Abnormality of the nervous system

Tunnus	Kui sageli seda täheldatakse
Delayed CNS myelination	Alati
Epileptic spasm	Alati
Hypsarrhythmia	Alati
Infantile spasms	Alati
Intellectual disability, severe	Alati
Motor delay	Alati
Severe global developmental delay	Alati
Abnormal peripheral nervous system synaptic transmission	Sageli (30–79%)
Abnormality of the nervous system	Sageli (30–79%)
Absent reflexes	Sageli (30–79%)
Delayed speech and language development	Sageli (30–79%)
Dystonia	Sageli (30–79%)
Epilepsy	Sageli (30–79%)
Favorable response of weakness to acetylcholine esterase inhibitors	Sageli (30–79%)
Focal T2 hyperintense basal ganglia lesion	Sageli (30–79%)
Global developmental delay	Sageli (30–79%)
Intellectual disability	Sageli (30–79%)
Poor eye contact	Sageli (30–79%)
Thin corpus callosum	Sageli (30–79%)
Ventriculomegaly	Sageli (30–79%)
Abnormal basal ganglia MRI signal intensity	Mõnikord (5–29%)
Abnormal gait	Mõnikord (5–29%)
Cerebral hypomyelination	Mõnikord (5–29%)
Hyperintensity of cerebral white matter on MRI	Mõnikord (5–29%)
Lateral ventricle dilatation	Mõnikord (5–29%)
Underdevelopment of part of brain called corpus callosum	Mõnikord (5–29%)
Waddling gait	Mõnikord (5–29%)
Widened subarachnoid space	Mõnikord (5–29%)
Increased reflexes	Pole registreeritud

Abnormality of the musculoskeletal system

Tunnus	Kui sageli seda täheldatakse
EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	Alati
Fatigable weakness	Alati
Increased variability in muscle fiber diameter	Alati
Centrally nucleated skeletal muscle fibers	Sageli (30–79%)
Distal joint hypermobility	Sageli (30–79%)
Double-Jointed	Sageli (30–79%)
Generalized decreased muscle tone	Sageli (30–79%)
Increased jitter at single fiber EMG	Sageli (30–79%)
Low muscle tone	Sageli (30–79%)
Muscle tissue disease	Sageli (30–79%)
Proximal neurogenic muscle weakness	Sageli (30–79%)
Type 1 muscle fiber predominance	Sageli (30–79%)
Difficulty running	Mõnikord (5–29%)
Difficulty walking up stairs	Mõnikord (5–29%)
Excessive inward curvature of lower spine	Mõnikord (5–29%)
Flexed joint that cannot be straightened	Mõnikord (5–29%)
Frequent falls	Mõnikord (5–29%)
Gowers sign	Mõnikord (5–29%)
Muscle spasm	Mõnikord (5–29%)
Poor head control	Mõnikord (5–29%)
Prominent swayback	Mõnikord (5–29%)
Ragged-red muscle fibers	Mõnikord (5–29%)
Scoliosis	Mõnikord (5–29%)
Tired easily	Mõnikord (5–29%)
Weakness of outermost muscles	Harva (1–4%)

Abnormality of head or neck

Tunnus	Kui sageli seda täheldatakse
Weakness of facial musculature	Väga sageli (80–99%)
Abnormal facial shape	Sageli (30–79%)
Abnormally small head	Sageli (30–79%)
Downward slanting of the opening between the eyelids	Sageli (30–79%)
Eye folds	Sageli (30–79%)
Flat face	Sageli (30–79%)
High palate	Sageli (30–79%)
Upward slanting of the opening between the eyelids	Sageli (30–79%)
Wide nasal bridge	Sageli (30–79%)
Bell's palsy	Mõnikord (5–29%)

Abnormality of the eye

Tunnus	Kui sageli seda täheldatakse
Cat eye	Alati
Involuntary, rapid, rhythmic eye movements	Alati
Visual impairment	Alati
Clouding of the lens of the eye	Sageli (30–79%)
Esodeviation	Sageli (30–79%)
Inward turning cross eyed	Sageli (30–79%)
Drooping upper eyelid	Mõnikord (5–29%)

Abnormality of limbs

Tunnus	Kui sageli seda täheldatakse
Limb-girdle muscle weakness	Alati
Dropped arches	Sageli (30–79%)
Inability to straighten knee	Sageli (30–79%)
Generalized weakness of limb muscles	Mõnikord (5–29%)
Winged shoulder blade	Mõnikord (5–29%)

Abnormality of blood and blood-forming tissues

Tunnus	Kui sageli seda täheldatakse
Prolonged partial thromboplastin time	Alati
Reduced factor XI activity	Alati
Abnormality of coagulation	Sageli (30–79%)
Iron deficiency anemia	Sageli (30–79%)

Abnormality of the digestive system

Tunnus	Kui sageli seda täheldatakse
Enlarged liver	Alati
Acid reflux	Sageli (30–79%)
Diarrhea	Sageli (30–79%)
Nasogastric tube feeding	Sageli (30–79%)

Laboratory abnormality

Tunnus	Kui sageli seda täheldatakse
Type I transferrin isoform profile	Alati
Abnormal circulating enzyme concentration or activity	Väga sageli (80–99%)
Mildly elevated creatine kinase	Sageli (30–79%)
Elevated blood creatine phosphokinase	Mõnikord (5–29%)

Abnormality of the ear

Tunnus	Kui sageli seda täheldatakse
Low-set ears	Sageli (30–79%)
Sensorineural hearing impairment	Sageli (30–79%)

Growth abnormality

Tunnus	Kui sageli seda täheldatakse
Decreased body weight	Sageli (30–79%)
Short stature	Sageli (30–79%)

Abnormal cellular phenotype

Tunnus	Kui sageli seda täheldatakse
Muscle fiber tubular inclusions	Sageli (30–79%)

Abnormality of the breast

Tunnus	Kui sageli seda täheldatakse
Inverted nipples	Sageli (30–79%)

Abnormality of the cardiovascular system

Tunnus	Kui sageli seda täheldatakse
Dilation of Virchow-Robin spaces	Sageli (30–79%)

Abnormality of the endocrine system

Tunnus	Kui sageli seda täheldatakse
Underactive thyroid	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

Inimese fenotüübi ontoloogia, versioon 2026-09-01: geeniga ALG2 seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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