Tunnused

Geeniga PGAP1 seotud tunnused

post-GPI attachment to proteins inositol deacylase 1

Inimese fenotüübi ontoloogia seostab geeniga PGAP1 66 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

Abnormality of the nervous system

Tunnus	Kui sageli seda täheldatakse
Babinski sign	Alati
Degeneration of cerebrum	Alati
Delayed ability to roll over	Alati
Delayed ability to sit	Alati
Delayed ability to walk	Alati
Delayed CNS myelination	Alati
Delayed speech and language development	Alati
Disorder of involuntary muscle movements	Alati
Global developmental delay	Alati
Increased reflexes	Alati
Intellectual disability, severe	Alati
IQ between 34 and 49	Alati
Motor delay	Alati
Repetitive movements	Alati
Underdevelopment of part of brain called corpus callosum	Alati
Abnormal gait	Sageli (30–79%)
Abnormal myelination	Sageli (30–79%)
Abnormality of movement	Sageli (30–79%)
Absent speech development	Sageli (30–79%)
Agenesis of corpus callosum	Sageli (30–79%)
Aplasia/Hypoplasia of the cerebellar vermis	Sageli (30–79%)
Brief seizures with staring spells	Sageli (30–79%)
Cerebellar vermis hypoplasia	Sageli (30–79%)
Decrease in size of the outer layer of the brain due to loss of brain cells	Sageli (30–79%)
Delayed ability to crawl	Sageli (30–79%)
Enlarged sylvian cistern	Sageli (30–79%)
Grand mal seizures	Sageli (30–79%)
Inappropriate laughter	Sageli (30–79%)
Intellectual disability	Sageli (30–79%)
Intellectual disability, mild	Sageli (30–79%)
Limb tremor	Sageli (30–79%)

Abnormality of head or neck

Tunnus	Kui sageli seda täheldatakse
Abnormal dentition	Alati
Depressed nasal bridge	Alati
Highly arched eyebrow	Alati
Short neck	Alati
Thin dental enamel	Alati
Upward slanting of the opening between the eyelids	Alati
Wide mouth	Alati
Abnormally small head	Sageli (30–79%)
Bifid uvula	Sageli (30–79%)
Low frontal hairline	Sageli (30–79%)
Low hairline at back of neck	Sageli (30–79%)

Abnormality of the musculoskeletal system

Tunnus	Kui sageli seda täheldatakse
Involuntary muscle stiffness, contraction, or spasm	Alati
Low muscle tone, in neonatal onset	Alati
Diffuse skeletal muscle wasting	Sageli (30–79%)
Low muscle tone	Sageli (30–79%)
Low muscle tone in trunk	Sageli (30–79%)
Lower limb spasticity	Sageli (30–79%)
Muscle degeneration	Sageli (30–79%)
Progressive spastic paraplegia	Sageli (30–79%)
Spastic walk	Sageli (30–79%)
Spasticity and rigidity of muscles	Sageli (30–79%)

Abnormality of the eye

Tunnus	Kui sageli seda täheldatakse
Breakdown of light-sensitive cells in back of eye	Alati
Cerebral visual impairment	Alati
Deeply set eye	Alati
Divergence nystagmus	Alati
Involuntary, rapid, rhythmic eye movements	Alati
Congenital nystagmus	Sageli (30–79%)

Abnormality of the cardiovascular system

Tunnus	Kui sageli seda täheldatakse
Narrowing of pulmonic valve	Sageli (30–79%)
Secundum atrial septal defect	Sageli (30–79%)

Abnormality of the digestive system

Tunnus	Kui sageli seda täheldatakse
Feeding difficulties	Alati
Gastrostomy tube feeding in infancy	Alati

Abnormality of the ear

Tunnus	Kui sageli seda täheldatakse
Large ears	Alati
Prominent antihelix	Alati

Growth abnormality

Tunnus	Kui sageli seda täheldatakse
Faltering weight	Sageli (30–79%)
Short stature	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 PGAP1 seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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