특성

POGZ 연관 특성

pogo transposable element derived with ZNF domain

인간 표현형 온톨로지가 POGZ에 연결하는 특성은 157개이며, 신체 계통별로 나뉩니다. 이 특성들은 이 유전자의 희귀 질환 중 하나를 가진 사람들에게서 관찰되는 특징입니다.

Abnormality of the nervous system

특성	나타나는 빈도
Delayed fine motor development	항상
Small cerebellum	항상
Ventriculomegaly	항상
Delayed motor skills	매우 자주 (80–99%)
Delayed speech and language development	매우 자주 (80–99%)
Global developmental delay	매우 자주 (80–99%)
Intellectual disability	매우 자주 (80–99%)
Anxiety	자주 (30–79%)
Attention deficit	자주 (30–79%)
Autism spectrum disorder	자주 (30–79%)
Degeneration of cerebrum	자주 (30–79%)
Delayed CNS myelination	자주 (30–79%)
Difficulty sleeping	자주 (30–79%)
Epilepsy	자주 (30–79%)
Intellectual disability, mild	자주 (30–79%)
Low frustration tolerance	자주 (30–79%)
More active than typical	자주 (30–79%)
Motor delay	자주 (30–79%)
Obstructive sleep apnea	자주 (30–79%)
Poor social interactions	자주 (30–79%)
Self-injurious behavior	자주 (30–79%)
Severe expressive language delay	자주 (30–79%)
Simplified gyral pattern	자주 (30–79%)
Small brainstem	자주 (30–79%)
Thin corpus callosum	자주 (30–79%)
Underdevelopment of part of brain called corpus callosum	자주 (30–79%)
Absent speech development	가끔 (5–29%)
Aggressive behavior	가끔 (5–29%)
Bilateral tonic-clonic seizure with generalized onset	가끔 (5–29%)
EEG abnormality	가끔 (5–29%)
Febrile seizure (within the age range of 3 months to 6 years)	가끔 (5–29%)
Focal impaired awareness seizure	가끔 (5–29%)
Intellectual disability, severe	가끔 (5–29%)
Irritability	가끔 (5–29%)
Overfriendliness	가끔 (5–29%)
Repetitive movements	가끔 (5–29%)
Tic disorder	가끔 (5–29%)
Waddling gait	가끔 (5–29%)
Decrease in size of the outer layer of the brain due to loss of brain cells	드물게 (1–4%)
Degeneration of cerebellum	드물게 (1–4%)
Delayed myelination	드물게 (1–4%)
Hypoplasia of the pons	드물게 (1–4%)
Incoordination	드물게 (1–4%)
Obsessive compulsive behavior	드물게 (1–4%)
Subcortical cerebral atrophy	드물게 (1–4%)

Abnormality of head or neck

특성	나타나는 빈도
Depressed nasal tip	매우 자주 (80–99%)
Exaggerated cupid's bow	매우 자주 (80–99%)
Abnormal facial shape	자주 (30–79%)
Abnormally large tongue	자주 (30–79%)
Abnormally small head	자주 (30–79%)
Big lower jaw	자주 (30–79%)
Broad forehead	자주 (30–79%)
Broad head shape	자주 (30–79%)
Broad nasal tip	자주 (30–79%)
Dandy-Walker malformation	자주 (30–79%)
Decreased facial muscle tone	자주 (30–79%)
Decreased volume of lip	자주 (30–79%)
Depressed nasal bridge	자주 (30–79%)
Downturned corners of mouth	자주 (30–79%)
Downward slanting of the opening between the eyelids	자주 (30–79%)
Drooping lower lip	자주 (30–79%)
Drooping upper lip	자주 (30–79%)
Eye folds	자주 (30–79%)
High palate	자주 (30–79%)
Highly arched eyebrow	자주 (30–79%)
Midface retrusion	자주 (30–79%)
Open mouth	자주 (30–79%)
Pear-shaped nose	자주 (30–79%)
Pointed chin	자주 (30–79%)
Receding chin	자주 (30–79%)
Short neck	자주 (30–79%)
Short philtrum	자주 (30–79%)
Sparse eyebrow	자주 (30–79%)
Thin red part of the upper lip	자주 (30–79%)
Wide mouth	자주 (30–79%)
Asymmetry of the posterior head	가끔 (5–29%)
Bifid uvula	가끔 (5–29%)
Cleft palate	가끔 (5–29%)
Extra bones within cranial sutures	가끔 (5–29%)
Little lower jaw	가끔 (5–29%)
Narrow forehead	가끔 (5–29%)
Narrow mouth	가끔 (5–29%)
Upward slanting of the opening between the eyelids	가끔 (5–29%)
Zygomatic flattening	가끔 (5–29%)
Enlarged cisterna magna	드물게 (1–4%)

Abnormality of the eye

특성	나타나는 빈도
Wide-set eyes	매우 자주 (80–99%)
Abnormal electroretinogram	자주 (30–79%)
Abnormality of visual evoked potentials	자주 (30–79%)
Astigmatism	자주 (30–79%)
Cat eye	자주 (30–79%)
Cerebral visual impairment	자주 (30–79%)
Cross-eyed	자주 (30–79%)
Drooping upper eyelid	자주 (30–79%)
Farsightedness	자주 (30–79%)
Optic atrophy	자주 (30–79%)
Optic nerve hypoplasia	자주 (30–79%)
Outward facing eye ball	자주 (30–79%)
Visual impairment	자주 (30–79%)
Anisometropia	가끔 (5–29%)
Close sighted	가끔 (5–29%)
Mild myopia	가끔 (5–29%)
Notched pupil	가끔 (5–29%)
Rod-cone dystrophy	가끔 (5–29%)
Blindness	드물게 (1–4%)
Involuntary, rapid, rhythmic eye movements	드물게 (1–4%)

Abnormality of the digestive system

특성	나타나는 빈도
Abnormality of the gastrointestinal tract	자주 (30–79%)
Constipation	자주 (30–79%)
Episodic vomiting	자주 (30–79%)
Feeding difficulties	자주 (30–79%)
Feeding difficulties in infancy	자주 (30–79%)
Acid reflux	가끔 (5–29%)
Chronic constipation	가끔 (5–29%)
Inguinal hernia	가끔 (5–29%)
Poor suck	가끔 (5–29%)
Umbilical hernia	가끔 (5–29%)
Ventral hernia	드물게 (1–4%)

Abnormality of the musculoskeletal system

특성	나타나는 빈도
Appendicular hypotonia	자주 (30–79%)
Decreased muscle tone in infant	자주 (30–79%)
Generalized decreased muscle tone	자주 (30–79%)
Low muscle tone in trunk	자주 (30–79%)
Congenital diaphragmatic hernia	가끔 (5–29%)
Double-Jointed	가끔 (5–29%)
Hypoplastic cervical vertebrae	가끔 (5–29%)
Joint contracture	가끔 (5–29%)
Low muscle tone	가끔 (5–29%)
Scoliosis	가끔 (5–29%)

Abnormality of limbs

특성	나타나는 빈도
Broad finger	자주 (30–79%)
Broad toe	자주 (30–79%)
Short fingers or toes	자주 (30–79%)
Broad foot	가끔 (5–29%)
Broad thumb	가끔 (5–29%)
Curvature of digit	가끔 (5–29%)
Webbed fingers or toes	가끔 (5–29%)

Abnormality of the ear

특성	나타나는 빈도
Abnormality of the outer ear	자주 (30–79%)
Bilateral sensorineural hearing impairment	자주 (30–79%)
Ears rotated toward back of head	자주 (30–79%)
Low-set ears	자주 (30–79%)
Overfolded ears	자주 (30–79%)
Recurrent middle ear infection	자주 (30–79%)
Sensorineural hearing impairment	자주 (30–79%)

Abnormality of the cardiovascular system

특성	나타나는 빈도
An opening in the wall separating the top two chambers of the heart	가끔 (5–29%)
Patent ductus arteriosus	가끔 (5–29%)
Patent foramen ovale	가끔 (5–29%)
Abnormality of the heart	드물게 (1–4%)

Growth abnormality

특성	나타나는 빈도
Faltering weight	자주 (30–79%)
Obesity	자주 (30–79%)
Short stature	자주 (30–79%)
Prenatal growth deficiency	가끔 (5–29%)

Abnormality of the genitourinary system

특성	나타나는 빈도
Duplicated collecting system	자주 (30–79%)
Undescended testes	자주 (30–79%)
Short penis	가끔 (5–29%)

Abnormality of the immune system

특성	나타나는 빈도
Recurrent respiratory infections	자주 (30–79%)
Decreased immune function	가끔 (5–29%)
Recurrent infections	가끔 (5–29%)

Abnormality of the integument

특성	나타나는 빈도
Sparse hair	가끔 (5–29%)
Blotchy loss of skin color	드물게 (1–4%)

Laboratory abnormality

특성	나타나는 빈도
Hypoglycemic seizures	자주 (30–79%)

Human Phenotype Ontology가 기록한, 해당 유전자와 관련된 질환을 가진 사람들 가운데 이 특징이 나타나는 빈도입니다. 이 페이지는 특징과 그 바탕이 되는 연구를 설명하며, 진단이 아닙니다. 증상에 대해서는 의사나 유전 상담사에게 문의하시기 바랍니다.

출처

인간 표현형 온톨로지 릴리스 2026-09-01: POGZ에 연결된 특성과 각 특성이 관찰되는 빈도입니다. 자세한 내용은 hpo.jax.org에서 확인해 주세요.

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