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Traits

Traits linked to PAH

phenylalanine hydroxylase

The Human Phenotype Ontology links 55 traits to PAH, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

TraitKui sageli seda täheldatakse
Global developmental delaySageli (30–79%)
Intellectual disabilitySageli (30–79%)
EpilepsyMõnikord (5–29%)
More active than typicalMõnikord (5–29%)
Underdevelopment of part of brain called corpus callosumMõnikord (5–29%)
Aggressive behaviorPole registreeritud
AnxietyPole registreeritud
Attention deficitPole registreeritud
DepressionPole registreeritud
Increased reflexesPole registreeritud
IrritabilityPole registreeritud
Obsessive compulsive behaviorPole registreeritud
PsychosisPole registreeritud
Self-mutilationPole registreeritud

Abnormality of head or neck

TraitKui sageli seda täheldatakse
Abnormal facial shapeSageli (30–79%)
Abnormally small headSageli (30–79%)
High palateMõnikord (5–29%)
Little lower jawMõnikord (5–29%)
Long philtrumMõnikord (5–29%)
Nasal tip, upturnedMõnikord (5–29%)
Wide nasal bridgeMõnikord (5–29%)
Deviated nasal septumHarva (1–4%)
Eye foldsHarva (1–4%)
Sloping foreheadHarva (1–4%)

Abnormality of the cardiovascular system

TraitKui sageli seda täheldatakse
Abnormality of the heartVäga sageli (80–99%)
Narrowing of aortaSageli (30–79%)
Underdeveloped left heartSageli (30–79%)
Double outlet right ventricleMõnikord (5–29%)
Hole in heart wall separating two lower heart chambersMõnikord (5–29%)
Tetralogy of FallotMõnikord (5–29%)

Laboratory abnormality

TraitKui sageli seda täheldatakse
Elevated urinary gamma-glutamylphenylalanine levelAlati
Increased level of hippuric acid in urineAlati
Elevated urinary phenylpyruvic acid levelPole registreeritud
HyperphenylalaninemiaPole registreeritud
Phenylpyruvic acidemiaPole registreeritud
Reduced phenylalanine hydroxylase levelPole registreeritud

Abnormality of the eye

TraitKui sageli seda täheldatakse
Abnormally close eyesHarva (1–4%)
Cross-eyedHarva (1–4%)
Drooping of both upper eyelidsHarva (1–4%)
Blue eyesPole registreeritud
Clouding of the lens of the eyePole registreeritud

Abnormality of the integument

TraitKui sageli seda täheldatakse
Dry skinPole registreeritud
Fair hairPole registreeritud
Fair skinPole registreeritud
SclerodermaPole registreeritud

Abnormality of limbs

TraitKui sageli seda täheldatakse
Curvature of digitHarva (1–4%)
Notched outermost bone of the thumbHarva (1–4%)
Short fingers or toesHarva (1–4%)

Abnormality of the digestive system

TraitKui sageli seda täheldatakse
Birth defect in which part of esophagus did not developHarva (1–4%)
Bladder exstrophyHarva (1–4%)

Abnormality of the ear

TraitKui sageli seda täheldatakse
Hypoplastic helicesHarva (1–4%)

Abnormality of the genitourinary system

TraitKui sageli seda täheldatakse
Abnormally shaped kidneyHarva (1–4%)

Abnormality of the immune system

TraitKui sageli seda täheldatakse
EczemaPole registreeritud

Abnormality of the musculoskeletal system

TraitKui sageli seda täheldatakse
Abnormal deposits of calcium in the brainPole registreeritud

Growth abnormality

TraitKui sageli seda täheldatakse
Prenatal growth deficiencySageli (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

  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to PAH and how often each is seen. Find out more at hpo.jax.org.

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