Tunnused

Geeniga DAG1 seotud tunnused

dystroglycan 1

Inimese fenotüübi ontoloogia seostab geeniga DAG1 91 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

Abnormality of the nervous system

Tunnus	Kui sageli seda täheldatakse
Abnormal gait	Alati
Absent speech development	Alati
Cerebellar vermis hypoplasia	Alati
Delayed speech and language development	Alati
Global developmental delay	Alati
Intellectual disability	Alati
More grooves in brain	Alati
Underdevelopment of part of brain called corpus callosum	Alati
Unsteady walk	Alati
Ventriculomegaly	Alati
Abnormal cerebellar vermis morphology	Väga sageli (80–99%)
Abnormal cortical gyration	Väga sageli (80–99%)
Abnormality of neuronal migration	Väga sageli (80–99%)
Absent reflexes	Väga sageli (80–99%)
Decreased reflex response	Väga sageli (80–99%)
Fewer and broader ridges in brain	Väga sageli (80–99%)
Fewer or absent grooves in brain	Väga sageli (80–99%)
Small cerebellum	Väga sageli (80–99%)
Specific learning disability	Väga sageli (80–99%)
Too much cerebrospinal fluid in the brain	Väga sageli (80–99%)
Abnormal pons morphology	Sageli (30–79%)
Abnormal shape of brainstem	Sageli (30–79%)
Absent septum pellucidum	Sageli (30–79%)
Agenesis of corpus callosum	Sageli (30–79%)
Agyria	Sageli (30–79%)
Cerebellar cyst	Sageli (30–79%)
Delayed ability to sit	Sageli (30–79%)
Delayed ability to walk	Sageli (30–79%)
EEG with focal spike waves	Sageli (30–79%)
Intellectual disability, severe	Sageli (30–79%)
Leukodystrophy	Sageli (30–79%)
Motor delay	Sageli (30–79%)
Severe global developmental delay	Sageli (30–79%)
Waddling gait	Sageli (30–79%)
Epilepsy	Mõnikord (5–29%)
Intellectual disability, mild	Mõnikord (5–29%)
Poor speech	Mõnikord (5–29%)

Abnormality of the musculoskeletal system

Tunnus	Kui sageli seda täheldatakse
Difficulty walking up stairs	Alati
Excessive inward curvature of lower spine	Alati
Generalized decreased muscle tone	Alati
Hypoglycosylation of alpha-dystroglycan	Alati
Increased variability in muscle fiber diameter	Alati
Poor head control	Alati
Absent/small skeletal muscles	Väga sageli (80–99%)
Low muscle tone	Väga sageli (80–99%)
Muscle degeneration	Väga sageli (80–99%)
Muscle weakness	Väga sageli (80–99%)
Muscular dystrophy	Väga sageli (80–99%)
Reduced muscle fiber alpha dystroglycan	Väga sageli (80–99%)
Decreased muscle tone in infant	Sageli (30–79%)
Gowers sign	Mõnikord (5–29%)
Abnormal deposits of calcium in the brain	Pole registreeritud
Muscle tissue disease	Pole registreeritud

Abnormality of the eye

Tunnus	Kui sageli seda täheldatakse
Breakdown of light-sensitive cells in back of eye	Alati
Chorioretinal dysplasia	Väga sageli (80–99%)
Optic atrophy	Väga sageli (80–99%)
Optic nerve issue	Väga sageli (80–99%)
Retinal detachment	Väga sageli (80–99%)
Retinal dysplasia	Väga sageli (80–99%)
Abnormally small eyeball	Sageli (30–79%)
Absence of eyeballs	Sageli (30–79%)
Clouding of the lens of the eye	Sageli (30–79%)
Corneal opacity	Sageli (30–79%)
Enlarged eyeball	Sageli (30–79%)
Glaucoma	Sageli (30–79%)
Severe near sightedness	Sageli (30–79%)
Cat eye	Mõnikord (5–29%)
Cornea of eye less than 10mm in diameter	Mõnikord (5–29%)

Abnormality of head or neck

Tunnus	Kui sageli seda täheldatakse
Big calvaria	Sageli (30–79%)
Dandy-Walker malformation	Sageli (30–79%)
Abnormally small head	Mõnikord (5–29%)
Bifid uvula	Mõnikord (5–29%)
Cleft palate	Mõnikord (5–29%)
Submucous cleft hard palate	Mõnikord (5–29%)

Abnormality of limbs

Tunnus	Kui sageli seda täheldatakse
Ankle flexion contracture	Alati
Limb-girdle muscle weakness	Alati
Limb-girdle muscular dystrophy	Väga sageli (80–99%)
Metatarsus valgus	Väga sageli (80–99%)
Increased size of calf muscles	Sageli (30–79%)
Calf muscle pseudohypertrophy	Mõnikord (5–29%)

Laboratory abnormality

Tunnus	Kui sageli seda täheldatakse
Elevated blood creatine phosphokinase	Alati
Abnormal circulating aldolase concentration	Väga sageli (80–99%)
Abnormal circulating lactate dehydrogenase concentration	Väga sageli (80–99%)
Abnormal levels of creatine kinase in blood	Väga sageli (80–99%)
Elevated creatine kinase after exercise	Pole registreeritud

Abnormality of the ear

Tunnus	Kui sageli seda täheldatakse
Ears rotated toward back of head	Mõnikord (5–29%)
Low-set ears	Mõnikord (5–29%)
Prominent ear	Mõnikord (5–29%)

Abnormality of the genitourinary system

Tunnus	Kui sageli seda täheldatakse
Underdeveloped penis	Sageli (30–79%)
Undescended testes	Sageli (30–79%)

Abnormality of the respiratory system

Tunnus	Kui sageli seda täheldatakse
Respiratory failure	Pole registreeritud

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 DAG1 seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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