Traits

Traits linked to AASS

aminoadipate-semialdehyde synthase

The Human Phenotype Ontology links 76 traits to AASS, 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
More active than typical	Alati
Behavioral abnormality	Sageli (30–79%)
Clumsiness	Sageli (30–79%)
Delayed speech and language development	Sageli (30–79%)
Difficulty performing quick and alternating movements	Sageli (30–79%)
EEG with spike-wave complexes	Sageli (30–79%)
Epilepsy	Sageli (30–79%)
Febrile seizure (within the age range of 3 months to 6 years)	Sageli (30–79%)
Global developmental delay	Sageli (30–79%)
Intellectual disability	Sageli (30–79%)
Intellectual disability, mild	Sageli (30–79%)
Neurodevelopmental delay	Sageli (30–79%)
Short attention span	Sageli (30–79%)
Abnormality of movement	Mõnikord (5–29%)
Brisk reflexes	Mõnikord (5–29%)
Cognitive impairment	Mõnikord (5–29%)
Decreased sensation in extremities	Mõnikord (5–29%)
Inability to coordinate movements when walking	Mõnikord (5–29%)
Incoordination	Mõnikord (5–29%)
Intellectual disability, borderline	Mõnikord (5–29%)
Lack of coordination of movement	Mõnikord (5–29%)
Mental deterioration	Mõnikord (5–29%)
Mild global developmental delay	Mõnikord (5–29%)
Simple febrile seizure	Mõnikord (5–29%)
Toe walking	Mõnikord (5–29%)
Tremor	Mõnikord (5–29%)

Laboratory abnormality

Trait	Kui sageli seda täheldatakse
Decreased blood ornithine concentrations	Alati
Decreased CSF arginine concentration	Alati
Elevated blood lysine	Alati
High urine arginine levels	Alati
High urine lysine levels	Alati
Homocitrullinuria	Alati
Increased CSF lysine concentration	Alati
Ornithinuria	Alati
Abnormal circulating enzyme concentration	Väga sageli (80–99%)
Abnormal circulating enzyme concentration or activity	Sageli (30–79%)
Abnormal CSF ornithine concentration	Sageli (30–79%)
Decreased urine alpha-ketoglutarate concentration	Sageli (30–79%)
High blood ammonia levels	Sageli (30–79%)
High urine cystine levels	Sageli (30–79%)
Citrullinuria	Mõnikord (5–29%)
Elevated circulating citrulline concentration	Mõnikord (5–29%)
High blood cystine levels	Mõnikord (5–29%)
Elevated CSF saccharopine concentration	Pole registreeritud

Abnormality of head or neck

Trait	Kui sageli seda täheldatakse
Abnormally small head	Sageli (30–79%)
Abnormal facial shape	Mõnikord (5–29%)
Deformity of the skull	Mõnikord (5–29%)
Flat nose	Mõnikord (5–29%)
High palate	Mõnikord (5–29%)
Smooth philtrum	Mõnikord (5–29%)
Thin eyebrow	Mõnikord (5–29%)

Abnormality of the digestive system

Trait	Kui sageli seda täheldatakse
Acid reflux	Mõnikord (5–29%)
Feeding difficulties	Mõnikord (5–29%)
Nasogastric tube feeding	Mõnikord (5–29%)
Poor suck	Mõnikord (5–29%)
Poor swallowing	Mõnikord (5–29%)
Vomiting	Mõnikord (5–29%)

Abnormality of the musculoskeletal system

Trait	Kui sageli seda täheldatakse
Decreased muscle tone in infant	Sageli (30–79%)
Neck hypertonia	Mõnikord (5–29%)
Opisthotonus	Mõnikord (5–29%)
Spastic diplegia	Mõnikord (5–29%)
Spastic tetraparesis	Mõnikord (5–29%)
Low muscle tone	Pole registreeritud

Abnormality of the eye

Trait	Kui sageli seda täheldatakse
Optic nerve hypoplasia	Sageli (30–79%)
Abnormally close eyes	Mõnikord (5–29%)
Cross-eyed	Mõnikord (5–29%)
Upgaze palsy	Mõnikord (5–29%)
Ectopia lentis	Pole registreeritud

Growth abnormality

Trait	Kui sageli seda täheldatakse
Growth abnormality	Sageli (30–79%)
Short stature	Sageli (30–79%)
Faltering weight	Mõnikord (5–29%)

Abnormality of the ear

Trait	Kui sageli seda täheldatakse
Hypoplasia of the antihelix	Mõnikord (5–29%)
Hypoplastic helices	Mõnikord (5–29%)

Abnormality of blood and blood-forming tissues

Trait	Kui sageli seda täheldatakse
Low number of red blood cells or hemoglobin	Pole registreeritud

Abnormality of the cardiovascular system

Trait	Kui sageli seda täheldatakse
Underdeveloped lung artery	Mõnikord (5–29%)

Abnormality of the immune system

Trait	Kui sageli seda täheldatakse
Recurrent pneumonia	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 AASS and how often each is seen. Find out more at hpo.jax.org.

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