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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

TraitHvor ofte det ses
Global developmental delayOfte (30–79 %)
Intellectual disabilityOfte (30–79 %)
EpilepsyNogle gange (5–29 %)
More active than typicalNogle gange (5–29 %)
Underdevelopment of part of brain called corpus callosumNogle gange (5–29 %)
Aggressive behaviorIkke registreret
AnxietyIkke registreret
Attention deficitIkke registreret
DepressionIkke registreret
Increased reflexesIkke registreret
IrritabilityIkke registreret
Obsessive compulsive behaviorIkke registreret
PsychosisIkke registreret
Self-mutilationIkke registreret

Abnormality of head or neck

TraitHvor ofte det ses
Abnormal facial shapeOfte (30–79 %)
Abnormally small headOfte (30–79 %)
High palateNogle gange (5–29 %)
Little lower jawNogle gange (5–29 %)
Long philtrumNogle gange (5–29 %)
Nasal tip, upturnedNogle gange (5–29 %)
Wide nasal bridgeNogle gange (5–29 %)
Deviated nasal septumSjældent (1–4%)
Eye foldsSjældent (1–4%)
Sloping foreheadSjældent (1–4%)

Abnormality of the cardiovascular system

TraitHvor ofte det ses
Abnormality of the heartMeget ofte (80–99 %)
Narrowing of aortaOfte (30–79 %)
Underdeveloped left heartOfte (30–79 %)
Double outlet right ventricleNogle gange (5–29 %)
Hole in heart wall separating two lower heart chambersNogle gange (5–29 %)
Tetralogy of FallotNogle gange (5–29 %)

Laboratory abnormality

TraitHvor ofte det ses
Elevated urinary gamma-glutamylphenylalanine levelAltid
Increased level of hippuric acid in urineAltid
Elevated urinary phenylpyruvic acid levelIkke registreret
HyperphenylalaninemiaIkke registreret
Phenylpyruvic acidemiaIkke registreret
Reduced phenylalanine hydroxylase levelIkke registreret

Abnormality of the eye

TraitHvor ofte det ses
Abnormally close eyesSjældent (1–4%)
Cross-eyedSjældent (1–4%)
Drooping of both upper eyelidsSjældent (1–4%)
Blue eyesIkke registreret
Clouding of the lens of the eyeIkke registreret

Abnormality of the integument

TraitHvor ofte det ses
Dry skinIkke registreret
Fair hairIkke registreret
Fair skinIkke registreret
SclerodermaIkke registreret

Abnormality of limbs

TraitHvor ofte det ses
Curvature of digitSjældent (1–4%)
Notched outermost bone of the thumbSjældent (1–4%)
Short fingers or toesSjældent (1–4%)

Abnormality of the digestive system

TraitHvor ofte det ses
Birth defect in which part of esophagus did not developSjældent (1–4%)
Bladder exstrophySjældent (1–4%)

Abnormality of the ear

TraitHvor ofte det ses
Hypoplastic helicesSjældent (1–4%)

Abnormality of the genitourinary system

TraitHvor ofte det ses
Abnormally shaped kidneySjældent (1–4%)

Abnormality of the immune system

TraitHvor ofte det ses
EczemaIkke registreret

Abnormality of the musculoskeletal system

TraitHvor ofte det ses
Abnormal deposits of calcium in the brainIkke registreret

Growth abnormality

TraitHvor ofte det ses
Prenatal growth deficiencyOfte (30–79 %)

Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.

Hvor oplysningerne kommer fra

  • 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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