Požymiai

Su USP9X susiję požymiai

ubiquitin specific peptidase 9 X-linked

Žmogaus fenotipo ontologija sieja 115 požymių su USP9X, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.

USP9X

Abnormality of head or neck

Požymis	Kaip dažnai pasireiškia
Blockage of the rear opening of the nasal cavity	Dažnai (30–79%)
Dandy-Walker malformation	Dažnai (30–79%)
Abnormal dental position	Kartais (5–29%)
Abnormal dentition	Kartais (5–29%)
Abnormal periodontium morphology	Kartais (5–29%)
Bifid uvula	Kartais (5–29%)
Broad head shape	Kartais (5–29%)
Cleft palate	Kartais (5–29%)
Corners of eye widely separated	Kartais (5–29%)
Deep laugh lines	Kartais (5–29%)
Depressed nasal bridge	Kartais (5–29%)
Downward slanting of the opening between the eyelids	Kartais (5–29%)
Facial asymmetry	Kartais (5–29%)
Flared nostrils	Kartais (5–29%)
Full lips	Kartais (5–29%)
Gum enlargement	Kartais (5–29%)
High palate	Kartais (5–29%)
Long philtrum	Kartais (5–29%)
Narrow forehead	Kartais (5–29%)
Prominent forehead	Kartais (5–29%)
Prominent nose	Kartais (5–29%)
Recurrent upper and lower respiratory tract infections	Kartais (5–29%)
Relatively large head	Kartais (5–29%)
Short opening between the eyelids	Kartais (5–29%)
Thin red part of the upper lip	Kartais (5–29%)
Upward slanting of the opening between the eyelids	Kartais (5–29%)
Wide nasal base	Kartais (5–29%)
Wide nasal bridge	Kartais (5–29%)
Bulbous nose	Neužfiksuota
Smooth philtrum	Neužfiksuota

Abnormality of the nervous system

Požymis	Kaip dažnai pasireiškia
Global developmental delay	Visada
Intellectual disability	Visada
IQ between 34 and 49	Labai dažnai (80–99%)
Abnormal cortical gyration	Dažnai (30–79%)
Small cerebellum	Dažnai (30–79%)
Underdevelopment of part of brain called corpus callosum	Dažnai (30–79%)
Ventriculomegaly	Dažnai (30–79%)
Abnormal gait	Kartais (5–29%)
Absent/small cerebellum	Kartais (5–29%)
Aggressive behavior	Kartais (5–29%)
Autism spectrum disorder	Kartais (5–29%)
Brain degeneration	Kartais (5–29%)
Cerebellar vermis hypoplasia	Kartais (5–29%)
Dilated fourth ventricle	Kartais (5–29%)
Epilepsy	Kartais (5–29%)
Obsessive compulsive behavior	Kartais (5–29%)
Small brainstem	Kartais (5–29%)
Delayed speech and language development	Neužfiksuota

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
Broad thumb	Dažnai (30–79%)
Left and right leg differ in length or width	Dažnai (30–79%)
Postaxial polydactyly	Dažnai (30–79%)
Broad big toe	Kartais (5–29%)
Bunion	Kartais (5–29%)
Curved fingers	Kartais (5–29%)
Dislocated hip since birth	Kartais (5–29%)
Dropped arches	Kartais (5–29%)
High-arched foot	Kartais (5–29%)
Overlapping toe	Kartais (5–29%)
Partial knee cap dislocation	Kartais (5–29%)
Short foot	Kartais (5–29%)
Slender finger	Kartais (5–29%)
Small hand	Kartais (5–29%)
Tapered finger	Kartais (5–29%)
Hip dislocation	Neužfiksuota

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
Low muscle tone	Visada
Abnormal formation of the hip	Dažnai (30–79%)
Decreased muscle tone in infant	Dažnai (30–79%)
Generalized decreased muscle tone	Dažnai (30–79%)
Scoliosis	Dažnai (30–79%)
Double jointed thumb	Kartais (5–29%)
Double-Jointed	Kartais (5–29%)
Limitation of joint mobility	Kartais (5–29%)
Osteopenia	Kartais (5–29%)
Thoracolumbar scoliosis	Kartais (5–29%)

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Abnormality of the eye	Dažnai (30–79%)
Astigmatism	Kartais (5–29%)
Close sighted	Kartais (5–29%)
Clouding of the lens of the eye	Kartais (5–29%)
Cross-eyed	Kartais (5–29%)
Farsightedness	Kartais (5–29%)
Abnormally close eyes	Neužfiksuota

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Absent anus	Dažnai (30–79%)
Abnormality of the abdominal wall	Kartais (5–29%)
Acid reflux	Kartais (5–29%)
Chronic constipation	Kartais (5–29%)
Cyst of the ductus choledochus	Kartais (5–29%)
Feeding difficulties	Kartais (5–29%)

Abnormality of the genitourinary system

Požymis	Kaip dažnai pasireiškia
Abnormality of the genitourinary system	Dažnai (30–79%)
Abnormal kidney location	Kartais (5–29%)
Hydronephrosis	Kartais (5–29%)
Hypospadias	Kartais (5–29%)
Renal dysplasia	Kartais (5–29%)

Abnormality of the integument

Požymis	Kaip dažnai pasireiškia
Depigmentation/hyperpigmentation of skin	Dažnai (30–79%)
Curly hair	Kartais (5–29%)
Excessive hair growth	Kartais (5–29%)
Spinal dimple	Kartais (5–29%)

Abnormality of the cardiovascular system

Požymis	Kaip dažnai pasireiškia
An opening in the wall separating the top two chambers of the heart	Kartais (5–29%)
Disease of the heart muscle	Kartais (5–29%)
Patent ductus arteriosus	Kartais (5–29%)

Abnormality of the ear

Požymis	Kaip dažnai pasireiškia
Hearing impairment	Dažnai (30–79%)
Ears rotated toward back of head	Kartais (5–29%)
Low-set ears	Kartais (5–29%)

Abnormality of the endocrine system

Požymis	Kaip dažnai pasireiškia
Abnormal thyroid function	Dažnai (30–79%)
Abnormal circulating thyroid hormone concentration	Kartais (5–29%)
Delayed puberty	Kartais (5–29%)

Abnormality of prenatal development or birth

Požymis	Kaip dažnai pasireiškia
1-minute APGAR score of 1	Kartais (5–29%)
5-minute APGAR score of 5	Kartais (5–29%)

Abnormality of the breast

Požymis	Kaip dažnai pasireiškia
One underdeveloped breast	Kartais (5–29%)
Small nipples	Kartais (5–29%)

Abnormality of the respiratory system

Požymis	Kaip dažnai pasireiškia
Breathing difficulties	Kartais (5–29%)
Floppy windpipe	Kartais (5–29%)

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Short stature	Dažnai (30–79%)
Prenatal growth deficiency	Kartais (5–29%)

Abnormal tissue mass

Požymis	Kaip dažnai pasireiškia
Abnormal tissue mass	Kartais (5–29%)

Abnormality of the immune system

Požymis	Kaip dažnai pasireiškia
Recurrent respiratory infections	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 USP9X susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

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