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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

TraitKui sageli seda täheldatakse
Decreased circulating cholesterol levelAlati
Decreased circulating LDL-C concentrationAlati
Elevated urinary mevalonate lactone levelAlati
Elevated urine 3-methyladipic acid levelAlati
Elevated urine mesaconic acid levelAlati
Increased circulating farnesol concentrationAlati
Elevated circulating methylsuccinic acid concentrationPole registreeritud

Abnormality of the nervous system

TraitKui sageli seda täheldatakse
EpilepsyAlati
IrritabilityAlati
Profound global developmental delayAlati
More grooves in brainSageli (30–79%)
Underdevelopment of part of brain called corpus callosumSageli (30–79%)
Elevated methylhex-dienedioic level by MRSPole registreeritud

Abnormality of head or neck

TraitKui sageli seda täheldatakse
Depressed nasal bridgeSageli (30–79%)
Eye foldsSageli (30–79%)
Little lower jawSageli (30–79%)
Receding chinSageli (30–79%)

Abnormality of limbs

TraitKui sageli seda täheldatakse
Elbow flexion contractureSageli (30–79%)
Inability to straighten kneeSageli (30–79%)
Webbed 2nd and 3rd toesSageli (30–79%)

Abnormality of the ear

TraitKui sageli seda täheldatakse
Ears rotated toward back of headSageli (30–79%)
Large earsSageli (30–79%)
Low-set earsSageli (30–79%)

Abnormality of the integument

TraitKui sageli seda täheldatakse
Dry skinAlati
Photosensitive skinAlati
Abnormality of hair pigmentationPole registreeritud

Abnormality of the digestive system

TraitKui sageli seda täheldatakse
ConstipationAlati
Gastrostomy tube feeding in infancyAlati

Abnormality of the eye

TraitKui sageli seda täheldatakse
Cerebral visual impairmentAlati
Optic nerve hypoplasiaSageli (30–79%)

Abnormality of the genitourinary system

TraitKui sageli seda täheldatakse
Bilateral cryptorchidismSageli (30–79%)
HypospadiasSageli (30–79%)

Growth abnormality

TraitKui sageli seda täheldatakse
Faltering weight in infancyAlati
Prenatal growth deficiencyAlati

Abnormality of the cardiovascular system

TraitKui sageli seda täheldatakse
Aortic valve has two leaflets rather than threeSageli (30–79%)

Abnormality of the musculoskeletal system

TraitKui sageli seda täheldatakse
Slender long boneSageli (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 FDFT1 and how often each is seen. Find out more at hpo.jax.org.

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