Požymiai

Su SMARCA2 susiję požymiai

SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2

Žmogaus fenotipo ontologija sieja 152 požymių su SMARCA2, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.

Abnormality of head or neck

Požymis	Kaip dažnai pasireiškia
Eye folds	Visada
Narrow opening between the eyelids	Visada
Triangular face	Visada
Abnormally small head	Labai dažnai (80–99%)
Broad philtrum	Labai dažnai (80–99%)
Decreased volume of lip	Labai dažnai (80–99%)
Drooping lower lip	Labai dažnai (80–99%)
Full lower lip	Labai dažnai (80–99%)
High, narrow palate	Labai dažnai (80–99%)
Long philtrum	Labai dažnai (80–99%)
Nasal tip, upturned	Labai dažnai (80–99%)
Smooth philtrum	Labai dažnai (80–99%)
Sparse scalp hair	Labai dažnai (80–99%)
Thick nasal alae	Labai dažnai (80–99%)
Thin red part of the upper lip	Labai dažnai (80–99%)
Wide mouth	Labai dažnai (80–99%)
Bulbous nose	Dažnai (30–79%)
Curly eyelashes	Dažnai (30–79%)
Dimple chin	Dažnai (30–79%)
Downward slanting of the opening between the eyelids	Dažnai (30–79%)
Drooling	Dažnai (30–79%)
Exaggerated cupid's bow	Dažnai (30–79%)
Flat face	Dažnai (30–79%)
Frontal bossing	Dažnai (30–79%)
Highly arched eyebrow	Dažnai (30–79%)
Long eyelashes	Dažnai (30–79%)
Low frontal hairline	Dažnai (30–79%)
Low hairline at back of neck	Dažnai (30–79%)
Low hanging columella	Dažnai (30–79%)
Narrow eyelid opening	Dažnai (30–79%)
Narrow nasal bridge	Dažnai (30–79%)
Short lingual frenulum	Dažnai (30–79%)
Short nose	Dažnai (30–79%)
Short opening between the eyelids	Dažnai (30–79%)
Skin tag in front of the ear	Dažnai (30–79%)
Sparse eyebrow	Dažnai (30–79%)
Sparse eyelashes	Dažnai (30–79%)
Sparse medial eyebrow	Dažnai (30–79%)
Underdeveloped tissue around nostril	Dažnai (30–79%)
Wide nasal bridge	Dažnai (30–79%)
Widely spaced teeth	Dažnai (30–79%)
Wrinkles around the eyes	Dažnai (30–79%)
Asymmetry of the posterior head	Kartais (5–29%)
Bad bite	Kartais (5–29%)
Decreased size of tooth	Kartais (5–29%)
Monobrow	Kartais (5–29%)
Narrow nasal ridge	Kartais (5–29%)
Short philtrum	Kartais (5–29%)
Thick eyebrow	Kartais (5–29%)
Thin dental enamel	Kartais (5–29%)
Wide nose	Kartais (5–29%)
Absent eyebrow	Neužfiksuota
Unequal size of opening between the eyelids	Neužfiksuota
Wide nasal base	Neužfiksuota

Abnormality of the nervous system

Požymis	Kaip dažnai pasireiškia
Epilepsy	Visada
Global developmental delay	Visada
Intellectual disability	Visada
Difficulty finding words	Labai dažnai (80–99%)
Echoing another person's speech	Labai dažnai (80–99%)
Inability to speak	Labai dažnai (80–99%)
Specific learning disability	Labai dažnai (80–99%)
Aggressive behavior	Dažnai (30–79%)
Attention deficit	Dažnai (30–79%)
Brief seizures with staring spells	Dažnai (30–79%)
Delayed ability to walk	Dažnai (30–79%)
Delayed speech and language development	Dažnai (30–79%)
Epileptic spasm	Dažnai (30–79%)
Inability to coordinate movements when walking	Dažnai (30–79%)
Intellectual disability, severe	Dažnai (30–79%)
Repeated seizures without recovery between them	Dažnai (30–79%)
Short attention span	Dažnai (30–79%)
Autism spectrum disorder	Kartais (5–29%)
Chiari malformation	Kartais (5–29%)
Hypoplasia of the pons	Kartais (5–29%)
Low frustration tolerance	Kartais (5–29%)
Overfriendliness	Kartais (5–29%)
Repetitive movements	Kartais (5–29%)
Thin corpus callosum	Kartais (5–29%)
Absent speech development	Neužfiksuota
Poor speech	Neužfiksuota

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
Gap between 1st and 2nd toes	Visada
Abnormal shape of long bones of hand	Labai dažnai (80–99%)
Short fingers or toes	Labai dažnai (80–99%)
Short palm	Labai dažnai (80–99%)
Abnormalities of the fingers	Dažnai (30–79%)
Broad outermost finger bone	Dažnai (30–79%)
Bunion	Dažnai (30–79%)
Clubbed toes	Dažnai (30–79%)
Dropped arches	Dažnai (30–79%)
Long fingers	Dažnai (30–79%)
Long toe	Dažnai (30–79%)
Prominent hinge joints	Dažnai (30–79%)
Short long bone of foot	Dažnai (30–79%)
Shortened long bone of hand	Dažnai (30–79%)
Single transverse palmar crease	Dažnai (30–79%)
Tapered finger	Dažnai (30–79%)
Wide 2nd toe	Dažnai (30–79%)
Club feet	Kartais (5–29%)
Curvature of little finger	Kartais (5–29%)
Short outermost finger bone	Kartais (5–29%)
Short finger bones	Neužfiksuota

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
Joint dislocation	Labai dažnai (80–99%)
Delayed bone maturation	Dažnai (30–79%)
Enlarged joints	Dažnai (30–79%)
Flexed joint that cannot be straightened	Dažnai (30–79%)
Low muscle tone	Dažnai (30–79%)
Scoliosis	Dažnai (30–79%)
Abnormal formation of the hip	Kartais (5–29%)
Abnormal shape of end part of bone	Kartais (5–29%)
Advanced bone age	Kartais (5–29%)
Double-Jointed	Kartais (5–29%)
Hernia	Kartais (5–29%)

Abnormality of the integument

Požymis	Kaip dažnai pasireiškia
Hair loss	Labai dažnai (80–99%)
Sparse hair	Labai dažnai (80–99%)
Abnormal hair pattern	Dažnai (30–79%)
Absent/small toenails	Dažnai (30–79%)
Birthmark	Dažnai (30–79%)
Dry hair	Dažnai (30–79%)
Excessive hair growth	Dažnai (30–79%)
Excessive wrinkled skin	Dažnai (30–79%)
Ichthyosis	Dažnai (30–79%)
Premature skin wrinkling	Dažnai (30–79%)

Abnormality of the genitourinary system

Požymis	Kaip dažnai pasireiškia
Abnormality of the testis	Dažnai (30–79%)
Undescended testes	Dažnai (30–79%)
Enuresis	Kartais (5–29%)
Frequent urinary tract infections	Kartais (5–29%)
Hypospadias	Kartais (5–29%)
Underdeveloped labia	Kartais (5–29%)

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Faltering weight	Dažnai (30–79%)
Growth delay	Dažnai (30–79%)
Mild short stature	Dažnai (30–79%)
Severe short stature	Dažnai (30–79%)
Short stature	Dažnai (30–79%)
Prenatal growth deficiency	Kartais (5–29%)

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Acid reflux	Dažnai (30–79%)
Constipation	Dažnai (30–79%)
Feeding difficulties	Dažnai (30–79%)
Inguinal hernia	Dažnai (30–79%)
Umbilical hernia	Dažnai (30–79%)

Abnormality of the immune system

Požymis	Kaip dažnai pasireiškia
Eczema	Dažnai (30–79%)
Recurrent respiratory infections	Dažnai (30–79%)
Recurrent bronchitis	Kartais (5–29%)
Recurrent pneumonia	Kartais (5–29%)

Abnormality of the cardiovascular system

Požymis	Kaip dažnai pasireiškia
Narrowing of aorta	Dažnai (30–79%)
Abnormal cardiovascular system morphology	Kartais (5–29%)
Patent ductus arteriosus	Kartais (5–29%)

Abnormality of the ear

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

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Wide-set eyes	Dažnai (30–79%)
Drooping upper eyelid	Kartais (5–29%)

Abnormality of the breast

Požymis	Kaip dažnai pasireiškia
Wide-spaced nipples	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 SMARCA2 susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

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