Tunnused

Geeniga IFT43 seotud tunnused

intraflagellar transport 43

Inimese fenotüübi ontoloogia seostab geeniga IFT43 104 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

Abnormality of the eye

Tunnus	Kui sageli seda täheldatakse
Difficulties with night vision	Alati
Optic disc pallor	Alati
Spicular pigmentation of the retina	Alati
Abnormal electroretinogram	Väga sageli (80–99%)
Abnormal retinal pigmentation	Väga sageli (80–99%)
Blindness	Väga sageli (80–99%)
Extreme sensitivity of the eyes to light	Väga sageli (80–99%)
Involuntary, rapid, rhythmic eye movements	Väga sageli (80–99%)
Optic atrophy	Väga sageli (80–99%)
Progressive night blindness	Väga sageli (80–99%)
Retina degeneration	Väga sageli (80–99%)
Visual impairment	Väga sageli (80–99%)
Abnormal central response of multifocal electroretinogram	Sageli (30–79%)
Abnormal full-field electroretinogram	Sageli (30–79%)
Abnormally close eyes	Sageli (30–79%)
Bulging cornea	Sageli (30–79%)
Cystoid macular edema	Sageli (30–79%)
Eye muscle paralysis	Sageli (30–79%)
Glaucoma	Sageli (30–79%)
Loss of peripheral vision	Sageli (30–79%)
Optic disc drusen	Sageli (30–79%)
Photoreceptor outer segment loss on macular OCT	Sageli (30–79%)
Posterior subcapsular cataract	Sageli (30–79%)
Retinal atrophy	Sageli (30–79%)
Retinal pigment epithelial atrophy	Sageli (30–79%)
Wide-set eyes	Sageli (30–79%)
Abnormal color vision	Mõnikord (5–29%)
Close sighted	Mõnikord (5–29%)
Decreased clarity of vision	Mõnikord (5–29%)
Photopsia	Mõnikord (5–29%)
Severe farsightedness	Mõnikord (5–29%)

Abnormality of head or neck

Tunnus	Kui sageli seda täheldatakse
Widely spaced teeth	Alati
Abnormal dentition	Väga sageli (80–99%)
Decreased size of tooth	Väga sageli (80–99%)
Eye folds	Väga sageli (80–99%)
Frontal bossing	Väga sageli (80–99%)
Long, narrow head	Väga sageli (80–99%)
Prominent back of the head	Väga sageli (80–99%)
Big calvaria	Sageli (30–79%)
Corners of eye widely separated	Sageli (30–79%)
Cystic hygroma	Sageli (30–79%)
Decreased size of teeth	Sageli (30–79%)
Deformity of the skull	Sageli (30–79%)
Drooping lower lip	Sageli (30–79%)
Early closure of midline skull joint	Sageli (30–79%)
Failure of development of between one and six teeth	Sageli (30–79%)
Little lower jaw	Sageli (30–79%)
Nasal tip, upturned	Sageli (30–79%)
Scaphocephaly	Sageli (30–79%)
Soft skullcap	Sageli (30–79%)
Thin red part of the upper lip	Sageli (30–79%)
Abnormal tooth enamel	Mõnikord (5–29%)
Taurodontia	Mõnikord (5–29%)

Abnormality of limbs

Tunnus	Kui sageli seda täheldatakse
Bowing of outer large bone of the forearm	Alati
Curving of inner forearm bone	Alati
Disproportionately short upper portion of limb	Alati
Short fingers or toes	Alati
Smaller or shorter than typical limbs	Alati
Abnormal shape of shaft of long bone	Väga sageli (80–99%)
Abnormality of the wide portion of a long bone	Väga sageli (80–99%)
Short outermost finger bone	Väga sageli (80–99%)
Finger syndactyly	Sageli (30–79%)
Gap between 1st and 2nd toes	Sageli (30–79%)
Postaxial polydactyly	Sageli (30–79%)
Preaxial polydactyly	Sageli (30–79%)
Single transverse palmar crease	Sageli (30–79%)
Webbed 2nd and 3rd toes	Sageli (30–79%)
Webbed 2nd-4th toes	Sageli (30–79%)
Curvature of little finger	Mõnikord (5–29%)

Abnormality of the musculoskeletal system

Tunnus	Kui sageli seda täheldatakse
Flattened vertebrae	Alati
Narrow chest	Alati
Small chest	Alati
Osteoporosis	Väga sageli (80–99%)
Double-Jointed	Sageli (30–79%)
Funnel chest	Sageli (30–79%)
Hypoplastic ischia	Sageli (30–79%)
Missing ribs	Sageli (30–79%)
Short ribs	Sageli (30–79%)
Wedge-shaped vertebrae	Sageli (30–79%)

Abnormality of the integument

Tunnus	Kui sageli seda täheldatakse
Broad nail	Alati
Short nail	Alati
Abnormal fingernails	Väga sageli (80–99%)
Abnormality of the toenail	Väga sageli (80–99%)
Sparse hair	Väga sageli (80–99%)
Dry skin	Pole registreeritud
Ectodermal dysplasia	Pole registreeritud
Fine hair	Pole registreeritud
Hanging skin	Pole registreeritud

Abnormality of the genitourinary system

Tunnus	Kui sageli seda täheldatakse
Nephronophthisis	Alati
Hyperechogenic kidneys	Sageli (30–79%)
Polycystic kidney dysplasia	Sageli (30–79%)
Stage 5 chronic kidney disease	Sageli (30–79%)

Abnormality of the cardiovascular system

Tunnus	Kui sageli seda täheldatakse
Narrowing of blood vessels in back of eye	Alati
Abnormality of retina blood vessels	Väga sageli (80–99%)
Narrowing of peripheral lung artery	Sageli (30–79%)

Abnormality of the nervous system

Tunnus	Kui sageli seda täheldatakse
Choroid plexus cyst	Sageli (30–79%)
Too much cerebrospinal fluid in the brain	Sageli (30–79%)
Ventriculomegaly	Sageli (30–79%)

Abnormality of the digestive system

Tunnus	Kui sageli seda täheldatakse
Intestinal malrotation	Sageli (30–79%)
Scar tissue replaces healthy tissue in the liver	Sageli (30–79%)

Abnormality of the ear

Tunnus	Kui sageli seda täheldatakse
Conductive deafness	Väga sageli (80–99%)
Sensorineural hearing impairment	Väga sageli (80–99%)

Growth abnormality

Tunnus	Kui sageli seda täheldatakse
Short stature	Alati

Laboratory abnormality

Tunnus	Kui sageli seda täheldatakse
Hyperinsulinemia	Sageli (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

Inimese fenotüübi ontoloogia, versioon 2026-09-01: geeniga IFT43 seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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