Gå til indhold
Brug dine HSA- eller FSA-midler

Traits

Traits linked to VMA22

vacuolar ATPase assembly factor VMA22

The Human Phenotype Ontology links 23 traits to VMA22, by body system: features seen in people with one of the gene's rare conditions.

Laboratory abnormality

TraitHvor ofte det ses
Abnormal glycosylationAltid
Decreased serum ceruloplasminAltid
Elevated alkaline phosphatase of bone originAltid
Elevated serum cholesterolAltid
High liver enzymesAltid
Increased circulating LDL levelAltid
Elevated blood creatine phosphokinaseNogle gange (5–29 %)
Copper accumulation in liverIkke registreret

Abnormality of the digestive system

TraitHvor ofte det ses
Liver failureOfte (30–79 %)
Cholestatic liver diseaseIkke registreret
Enlarged liverIkke registreret
Prolonged yellowing of skin in newbornIkke registreret
Scar tissue replaces healthy tissue in the liverIkke registreret

Abnormality of head or neck

TraitHvor ofte det ses
Abnormal facial shapeNogle gange (5–29 %)
Downward slanting of the opening between the eyelidsNogle gange (5–29 %)
Long faceNogle gange (5–29 %)

Abnormality of the cardiovascular system

TraitHvor ofte det ses
Enlarged liver and spleenOfte (30–79 %)
Increased spleen sizeIkke registreret

Abnormality of the musculoskeletal system

TraitHvor ofte det ses
Generalized decreased muscle toneOfte (30–79 %)
Muscle degenerationIkke registreret

Abnormality of the nervous system

TraitHvor ofte det ses
Global developmental delayOfte (30–79 %)
EpilepsyNogle gange (5–29 %)

Abnormality of the eye

TraitHvor ofte det ses
Drooping upper eyelidNogle gange (5–29 %)

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 VMA22 and how often each is seen. Find out more at hpo.jax.org.

Én test. Svar for hele livet.

Fra 449 $Gratis forsendelse · Resultater på 6–8 uger

Bestil min Genome Test