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Traits

Traits linked to FDFT1

farnesyl-diphosphate farnesyltransferase 1

The Human Phenotype Ontology links 36 traits to FDFT1, by body system: features seen in people with one of the gene's rare conditions.

Laboratory abnormality

TraitHvor ofte den forekommer
Decreased circulating cholesterol levelAlltid
Decreased circulating LDL-C concentrationAlltid
Elevated urinary mevalonate lactone levelAlltid
Elevated urine 3-methyladipic acid levelAlltid
Elevated urine mesaconic acid levelAlltid
Increased circulating farnesol concentrationAlltid
Elevated circulating methylsuccinic acid concentrationIkke registrert

Abnormality of the nervous system

TraitHvor ofte den forekommer
EpilepsyAlltid
IrritabilityAlltid
Profound global developmental delayAlltid
More grooves in brainOfte (30–79 %)
Underdevelopment of part of brain called corpus callosumOfte (30–79 %)
Elevated methylhex-dienedioic level by MRSIkke registrert

Abnormality of head or neck

TraitHvor ofte den forekommer
Depressed nasal bridgeOfte (30–79 %)
Eye foldsOfte (30–79 %)
Little lower jawOfte (30–79 %)
Receding chinOfte (30–79 %)

Abnormality of limbs

TraitHvor ofte den forekommer
Elbow flexion contractureOfte (30–79 %)
Inability to straighten kneeOfte (30–79 %)
Webbed 2nd and 3rd toesOfte (30–79 %)

Abnormality of the ear

TraitHvor ofte den forekommer
Ears rotated toward back of headOfte (30–79 %)
Large earsOfte (30–79 %)
Low-set earsOfte (30–79 %)

Abnormality of the integument

TraitHvor ofte den forekommer
Dry skinAlltid
Photosensitive skinAlltid
Abnormality of hair pigmentationIkke registrert

Abnormality of the digestive system

TraitHvor ofte den forekommer
ConstipationAlltid
Gastrostomy tube feeding in infancyAlltid

Abnormality of the eye

TraitHvor ofte den forekommer
Cerebral visual impairmentAlltid
Optic nerve hypoplasiaOfte (30–79 %)

Abnormality of the genitourinary system

TraitHvor ofte den forekommer
Bilateral cryptorchidismOfte (30–79 %)
HypospadiasOfte (30–79 %)

Growth abnormality

TraitHvor ofte den forekommer
Faltering weight in infancyAlltid
Prenatal growth deficiencyAlltid

Abnormality of the cardiovascular system

TraitHvor ofte den forekommer
Aortic valve has two leaflets rather than threeOfte (30–79 %)

Abnormality of the musculoskeletal system

TraitHvor ofte den forekommer
Slender long boneOfte (30–79 %)

Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.

Slik er informasjonen samlet

  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to FDFT1 and how often each is seen. Find out more at hpo.jax.org.

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