Požymiai

Su WAC susiję požymiai

WW domain containing adaptor with coiled-coil

Žmogaus fenotipo ontologija sieja 102 požymių su WAC, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.

WAC

Abnormality of head or neck

Požymis	Kaip dažnai pasireiškia
Abnormal facial shape	Labai dažnai (80–99%)
Full cheeks	Dažnai (30–79%)
Short opening between the eyelids	Dažnai (30–79%)
Square face	Dažnai (30–79%)
Abnormality of the nostrils	Kartais (5–29%)
Absent cupid's bow	Kartais (5–29%)
Blockage of the rear opening of the nasal cavity	Kartais (5–29%)
Branchial anomaly	Kartais (5–29%)
Broad chin	Kartais (5–29%)
Broad forehead	Kartais (5–29%)
Broad nasal tip	Kartais (5–29%)
Broad opening between the eyelids	Kartais (5–29%)
Bulbous nose	Kartais (5–29%)
Depressed nasal bridge	Kartais (5–29%)
Downward slanting of the opening between the eyelids	Kartais (5–29%)
Eye folds	Kartais (5–29%)
Monobrow	Kartais (5–29%)
Prominent forehead	Kartais (5–29%)
Short nose	Kartais (5–29%)
Thick eyebrow	Kartais (5–29%)
Thin red part of the upper lip	Kartais (5–29%)
Wide mouth	Kartais (5–29%)
Wide nasal bridge	Kartais (5–29%)
Broad head shape	Neužfiksuota
Coarse facial features	Neužfiksuota
Downturned corners of mouth	Neužfiksuota
Midface retrusion	Neužfiksuota
Short neck	Neužfiksuota

Abnormality of the nervous system

Požymis	Kaip dažnai pasireiškia
Global developmental delay	Visada
Abnormal shape of brain	Labai dažnai (80–99%)
Attention deficit	Labai dažnai (80–99%)
Behavioral abnormality	Labai dažnai (80–99%)
Delayed speech and language development	Labai dažnai (80–99%)
Intellectual disability	Labai dažnai (80–99%)
Intellectual disability, mild	Labai dažnai (80–99%)
Motor delay	Labai dažnai (80–99%)
Aggressive behavior	Dažnai (30–79%)
Anxiety	Dažnai (30–79%)
Difficulty sleeping	Dažnai (30–79%)
Epilepsy	Dažnai (30–79%)
Absent speech development	Kartais (5–29%)
Autism spectrum disorder	Kartais (5–29%)
Borderline personality disorder	Kartais (5–29%)
Difficulty articulating speech	Kartais (5–29%)
Fluid-filled sac located in membrane surrounding brain or spinal cord	Kartais (5–29%)
Grand mal seizures	Kartais (5–29%)
Self-injurious behavior	Kartais (5–29%)
Simple febrile seizure	Kartais (5–29%)
Small cerebellum	Kartais (5–29%)
Typical absence seizure	Kartais (5–29%)
Underdevelopment of part of brain called corpus callosum	Kartais (5–29%)
Ventriculomegaly	Kartais (5–29%)
Widened subarachnoid space	Kartais (5–29%)
Agitation	Neužfiksuota

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Visual impairment	Labai dažnai (80–99%)
Abnormality of vision	Dažnai (30–79%)
Astigmatism	Dažnai (30–79%)
Cross-eyed	Dažnai (30–79%)
Abnormality of refraction	Kartais (5–29%)
Birth defect that causes a hole in the innermost layer at the back of the eye	Kartais (5–29%)
Close sighted	Kartais (5–29%)
Deeply set eye	Kartais (5–29%)
Farsightedness	Kartais (5–29%)
Lazy eye	Kartais (5–29%)
Visual loss	Kartais (5–29%)
Wide-set eyes	Kartais (5–29%)

Abnormality of the cardiovascular system

Požymis	Kaip dažnai pasireiškia
Abnormality of the heart	Labai dažnai (80–99%)
Aortic valve has two leaflets rather than three	Kartais (5–29%)
Hole in heart wall separating two lower heart chambers	Kartais (5–29%)
Narrowing of aorta	Kartais (5–29%)
Narrowing of pulmonic valve	Kartais (5–29%)
Patent ductus arteriosus	Kartais (5–29%)
Ventricular hypertrophy	Kartais (5–29%)

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
Dropped arches	Kartais (5–29%)
Pes valgus	Kartais (5–29%)
Prominent fingertip pads	Kartais (5–29%)
Short fingers or toes	Kartais (5–29%)
Short palm	Kartais (5–29%)
Single transverse palmar crease	Kartais (5–29%)

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Constipation	Labai dažnai (80–99%)
Feeding difficulties	Dažnai (30–79%)
Acid reflux	Kartais (5–29%)
Celiac disease	Kartais (5–29%)
Nasogastric tube feeding	Kartais (5–29%)
Poor swallowing	Kartais (5–29%)

Abnormality of the ear

Požymis	Kaip dažnai pasireiškia
Ears rotated toward back of head	Kartais (5–29%)
Hearing impairment	Kartais (5–29%)
Prominent antihelix	Kartais (5–29%)
Sensorineural hearing impairment	Kartais (5–29%)
Abnormally shaped ears	Neužfiksuota

Abnormality of the genitourinary system

Požymis	Kaip dažnai pasireiškia
Dilatation of renal calices	Kartais (5–29%)
Pelvic kidney	Kartais (5–29%)

Abnormality of the immune system

Požymis	Kaip dažnai pasireiškia
Asthma	Kartais (5–29%)
Recurrent respiratory infections	Kartais (5–29%)

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
Low muscle tone, in neonatal onset	Dažnai (30–79%)
Generalized decreased muscle tone	Neužfiksuota

Abnormality of the respiratory system

Požymis	Kaip dažnai pasireiškia
Abnormality of the respiratory system	Dažnai (30–79%)
Abnormal pattern of respiration	Kartais (5–29%)

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Obesity	Kartais (5–29%)
Truncal obesity	Kartais (5–29%)

Abnormality of the breast

Požymis	Kaip dažnai pasireiškia
Inverted nipples	Kartais (5–29%)

Abnormality of the integument

Požymis	Kaip dažnai pasireiškia
Excessive hairiness	Kartais (5–29%)

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 WAC susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

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