Požymiai

Su KIF7 susiję požymiai

kinesin family member 7

Žmogaus fenotipo ontologija sieja 168 požymių su KIF7, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.

KIF7

Abnormality of head or neck

Požymis	Kaip dažnai pasireiškia
Big calvaria	Visada
Depressed nasal bridge	Visada
Frontal bossing	Visada
Short neck	Visada
Wide nasal bridge	Visada
Zygomatic flattening	Visada
Little lower jaw	Labai dažnai (80–99%)
Receding chin	Labai dažnai (80–99%)
Triangular mouth	Labai dažnai (80–99%)
Abnormal oral frenulum morphology	Dažnai (30–79%)
Abnormality of the sense of smell	Dažnai (30–79%)
Bifid uvula	Dažnai (30–79%)
Broad forehead	Dažnai (30–79%)
Broad nasal tip	Dažnai (30–79%)
Bumpy tongue	Dažnai (30–79%)
Cleft palate	Dažnai (30–79%)
Dandy-Walker malformation	Dažnai (30–79%)
Decreased width of the skull	Dažnai (30–79%)
Downward slanting of the opening between the eyelids	Dažnai (30–79%)
Eye folds	Dažnai (30–79%)
Gingival cleft	Dažnai (30–79%)
Hamartoma of tongue	Dažnai (30–79%)
High palate	Dažnai (30–79%)
Long face	Dažnai (30–79%)
One sided cleft upper lip	Dažnai (30–79%)
Prominent back of the head	Dažnai (30–79%)
Short nose	Dažnai (30–79%)
Short philtrum	Dažnai (30–79%)
Skin tag in front of the ear	Dažnai (30–79%)
Sloping forehead	Dažnai (30–79%)
Submucous cleft hard palate	Dažnai (30–79%)
Tongue nodules	Dažnai (30–79%)
Wider-than-typical soft spot of skull	Dažnai (30–79%)
Cleft upper lip	Kartais (5–29%)
Decreased volume of lip	Kartais (5–29%)
Downturned corners of mouth	Kartais (5–29%)
Drooping upper lip	Kartais (5–29%)
Exaggerated cupid's bow	Kartais (5–29%)
Full lips	Kartais (5–29%)
Highly arched eyebrow	Kartais (5–29%)
Long philtrum	Kartais (5–29%)
Midline notch of upper alveolar ridge	Kartais (5–29%)
Open mouth	Kartais (5–29%)
Prominent nasal bridge	Kartais (5–29%)
Small retruded chin	Kartais (5–29%)
Alveolar process hypoplasia	Retai (1–4 %)
Big lower jaw	Retai (1–4 %)
Decreased size of teeth	Retai (1–4 %)
Delayed loss of baby teeth	Retai (1–4 %)
Excessive salivation	Retai (1–4 %)
Gum enlargement	Retai (1–4 %)
Narrow mouth	Retai (1–4 %)
Prominent palatine ridges	Retai (1–4 %)
Protruding tongue	Retai (1–4 %)
Smooth philtrum	Retai (1–4 %)
Wide mouth	Retai (1–4 %)
Abnormal facial shape	Neužfiksuota
Prominent forehead	Neužfiksuota

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
Curvature of digit	Visada
Knock knees	Visada
Tapered finger	Visada
Duplication of big toe bone	Labai dažnai (80–99%)
Duplication of thumb phalanx	Labai dažnai (80–99%)
Extra little finger	Labai dažnai (80–99%)
Extra thumb	Labai dažnai (80–99%)
Extra toe attached near the little toe	Labai dažnai (80–99%)
Preaxial foot polydactyly	Labai dažnai (80–99%)
Spindle-shaped finger	Labai dažnai (80–99%)
Curvature of finger	Dažnai (30–79%)
Finger syndactyly	Dažnai (30–79%)
Finger-like thumb	Dažnai (30–79%)
Fused toes	Dažnai (30–79%)
Preaxial polydactyly	Dažnai (30–79%)
Short fingers or toes	Dažnai (30–79%)
Webbed fingers or toes	Dažnai (30–79%)
Cutaneous syndactyly	Kartais (5–29%)
Duplication of bones of the toes	Kartais (5–29%)
Extra finger	Kartais (5–29%)
Mesoaxial polydactyly	Kartais (5–29%)
Smaller or shorter than typical limbs	Kartais (5–29%)
Y-shaped central long bones of hand	Kartais (5–29%)
Curvature of little finger	Neužfiksuota
Notched outermost bone of the thumb	Neužfiksuota

Abnormality of the nervous system

Požymis	Kaip dažnai pasireiškia
Aplasia/Hypoplasia of the corpus callosum	Visada
Molar tooth sign on MRI	Visada
Absent septum pellucidum	Labai dažnai (80–99%)
Agenesis of corpus callosum	Labai dažnai (80–99%)
Global developmental delay	Labai dažnai (80–99%)
Intellectual disability	Labai dažnai (80–99%)
Intellectual disability, severe	Labai dažnai (80–99%)
Too much cerebrospinal fluid in the brain	Labai dažnai (80–99%)
Abnormal gait	Dažnai (30–79%)
Anencephaly	Dažnai (30–79%)
Ataxia	Dažnai (30–79%)
Epilepsy	Dažnai (30–79%)
Hypoplasia of olfactory tract	Dažnai (30–79%)
Intracranial cystic lesion	Dažnai (30–79%)
Underdevelopment of part of brain called corpus callosum	Dažnai (30–79%)
Abnormality of neuronal migration	Kartais (5–29%)
Absent/small cerebellum	Kartais (5–29%)
Arrhinencephaly	Kartais (5–29%)
Cerebellar vermis hypoplasia	Kartais (5–29%)
Degeneration of cerebrum	Kartais (5–29%)
Hypothalamic hamartoma	Kartais (5–29%)
Tremor	Kartais (5–29%)
Brain degeneration	Neužfiksuota
Motor delay	Neužfiksuota
Ventriculomegaly	Neužfiksuota

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
Abnormal development of end part of bone	Visada
Enlarged joints	Visada
Flat end part of bone	Visada
Funnel chest	Visada
Abnormality of the skeletal system	Labai dažnai (80–99%)
Delayed maturation of end part of long bone	Labai dažnai (80–99%)
Generalized decreased muscle tone	Labai dažnai (80–99%)
Multiple epiphyseal dysplasia	Labai dažnai (80–99%)
Low muscle tone	Dažnai (30–79%)
Abnormal collarbone	Kartais (5–29%)
Congenital diaphragmatic hernia	Kartais (5–29%)
Abnormal vertebral morphology	Retai (1–4 %)
Pigeon chest	Neužfiksuota

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Wide-set eyes	Visada
Deeply set eye	Dažnai (30–79%)
Involuntary, rapid, rhythmic eye movements	Dažnai (30–79%)
Inward turning cross eyed	Dažnai (30–79%)
Abnormally small eyeball	Kartais (5–29%)
Absence of eyeballs	Kartais (5–29%)
Cross-eyed	Kartais (5–29%)
Notched pupil	Kartais (5–29%)
Optic atrophy	Kartais (5–29%)
Fundus hypopigmentation	Neužfiksuota

Abnormality of the genitourinary system

Požymis	Kaip dažnai pasireiškia
Bilateral cryptorchidism	Dažnai (30–79%)
Hypospadias	Dažnai (30–79%)
Abnormal fallopian tube morphology	Kartais (5–29%)
Absent kidney	Kartais (5–29%)
Absent/small kidney	Kartais (5–29%)
Short penis	Kartais (5–29%)
Undescended testes	Kartais (5–29%)

Abnormality of the ear

Požymis	Kaip dažnai pasireiškia
Low-set ears	Visada
Abnormally shaped ears	Labai dažnai (80–99%)
Conductive deafness	Dažnai (30–79%)
Ears rotated toward back of head	Dažnai (30–79%)
Hearing impairment	Kartais (5–29%)
Sensorineural hearing impairment	Kartais (5–29%)

Abnormality of the cardiovascular system

Požymis	Kaip dažnai pasireiškia
Abnormal cardiovascular system morphology	Dažnai (30–79%)
Abnormality of the heart	Kartais (5–29%)
Abnormal cardiac septum morphology	Neužfiksuota
Abnormal pulmonary valve morphology	Neužfiksuota
Pulmonary valve defects	Neužfiksuota

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Feeding difficulties in infancy	Dažnai (30–79%)
Inguinal hernia	Dažnai (30–79%)
Umbilical hernia	Dažnai (30–79%)
Abnormal connection between rectum and vagina	Neužfiksuota
Absent anus	Neužfiksuota

Abnormality of the respiratory system

Požymis	Kaip dažnai pasireiškia
Abnormality of the respiratory system	Dažnai (30–79%)
Softening of voice box tissue	Dažnai (30–79%)
Tracheal atresia	Dažnai (30–79%)
Apnea	Kartais (5–29%)
Episodic tachypnea	Kartais (5–29%)

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Faltering weight	Dažnai (30–79%)
Growth delay	Dažnai (30–79%)
Short stature	Dažnai (30–79%)
Tall stature	Kartais (5–29%)
Growth delay as children	Neužfiksuota

Abnormality of prenatal development or birth

Požymis	Kaip dažnai pasireiškia
High levels of amniotic fluid	Labai dažnai (80–99%)
Premature birth	Labai dažnai (80–99%)

Constitutional symptom

Požymis	Kaip dažnai pasireiškia
Joint pain	Dažnai (30–79%)

Laboratory abnormality

Požymis	Kaip dažnai pasireiškia
Swelling caused by excess lymph fluid under skin	Dažnai (30–79%)

Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.

Iš kur tai žinoma

Žmogaus fenotipo ontologija, 2026-09-01 leidimas: su KIF7 susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

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