Trăsături

Trăsături asociate cu SRCAP

Snf2 related CREBBP activator protein

Human Phenotype Ontology asociază 126 trăsături cu SRCAP, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Bulbous nose	Întotdeauna
Low hanging columella	Întotdeauna
Prominent metopic ridge	Întotdeauna
Prominent nasal bridge	Întotdeauna
Prominent nose	Întotdeauna
Underdeveloped tissue around nostril	Întotdeauna
Short philtrum	Foarte des (80–99%)
Triangular face	Foarte des (80–99%)
Wide mouth	Foarte des (80–99%)
Decreased size of tooth	Des (30–79%)
Dental cavities	Des (30–79%)
Short neck	Des (30–79%)
Thin red part of the upper lip	Des (30–79%)
Big calvaria	Uneori (5–29%)
Broad nasal tip	Uneori (5–29%)
Decreased size of maxilla	Uneori (5–29%)
Delayed loss of baby teeth	Uneori (5–29%)
Failure of development of more than six teeth	Uneori (5–29%)
Long nose	Uneori (5–29%)
Narrow nasal bridge	Uneori (5–29%)
Abnormally small head	Rar (1–4%)
Big lower jaw	Neînregistrat
Downturned corners of mouth	Neînregistrat
Drooping lower lip	Neînregistrat
Eye folds	Neînregistrat
Fullness around the eyes	Neînregistrat
Long eyelashes	Neînregistrat
Long face	Neînregistrat
Long philtrum	Neînregistrat
Low hairline at back of neck	Neînregistrat
Narrow eyelid opening	Neînregistrat
Prominent forehead	Neînregistrat
Receding chin	Neînregistrat
Wide nasal bridge	Neînregistrat

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Aggressive behavior	Întotdeauna
Communication delay	Întotdeauna
Delayed ability to walk	Întotdeauna
Delayed speech and language development	Întotdeauna
Speech apraxia	Foarte des (80–99%)
Autism spectrum disorder	Des (30–79%)
Behavioral abnormality	Des (30–79%)
Intellectual disability	Des (30–79%)
Intellectual disability, mild	Des (30–79%)
IQ between 34 and 49	Des (30–79%)
Abnormal temper tantrums	Uneori (5–29%)
Absent speech development	Uneori (5–29%)
Anxiety	Uneori (5–29%)
Attention deficit	Uneori (5–29%)
Difficulty articulating speech	Uneori (5–29%)
Epilepsy	Uneori (5–29%)
High pitched voice	Uneori (5–29%)
Impulsivity	Uneori (5–29%)
Obsessive compulsive behavior	Uneori (5–29%)
Psychosis	Uneori (5–29%)
Restlessness	Uneori (5–29%)
Short attention span	Uneori (5–29%)
Wide based walk	Uneori (5–29%)

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Broad fingertip	Des (30–79%)
Broad thumb	Des (30–79%)
Curvature of little finger	Des (30–79%)
Short fingers or toes	Des (30–79%)
Avascular necrosis of the capital femoral epiphysis	Uneori (5–29%)
Curvature of digit	Uneori (5–29%)
Dislocated radial head	Uneori (5–29%)
False joint (long bone in upper arm)	Uneori (5–29%)
Increased bone density of end part of the outermost hand bones	Uneori (5–29%)
Short middle bone of index finger	Uneori (5–29%)
Short middle bone of the little finger	Uneori (5–29%)
Short thumb	Uneori (5–29%)
Shortened 1st long bone of hand	Uneori (5–29%)
Shortened 5th long bone of hand	Uneori (5–29%)
Shortened long bone of hand	Uneori (5–29%)
Cone-shaped end part of finger bones	Neînregistrat

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Glanular hypospadias	Întotdeauna
Absent kidney	Uneori (5–29%)
Congenital posterior urethral valve	Uneori (5–29%)
Cystic kidney disease	Uneori (5–29%)
Dilatation of the renal pelvis	Uneori (5–29%)
Epididymal cyst	Uneori (5–29%)
Hydronephrosis	Uneori (5–29%)
Hypospadias	Uneori (5–29%)
Increased calcium level in kidney	Uneori (5–29%)
Undescended testes	Uneori (5–29%)
Varicocele	Uneori (5–29%)
Polycystic kidney dysplasia	Rar (1–4%)
Stage 5 chronic kidney disease	Rar (1–4%)

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Delayed bone maturation	Foarte des (80–99%)
Double-Jointed	Des (30–79%)
Low muscle tone	Des (30–79%)
Shield chest	Des (30–79%)
11 pairs of ribs	Uneori (5–29%)
Abnormal formation of the hip	Uneori (5–29%)
Enlarged joints	Uneori (5–29%)
Kyphoscoliosis	Uneori (5–29%)
Short collarbone	Uneori (5–29%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Acid reflux	Uneori (5–29%)
Celiac disease	Uneori (5–29%)
Constipation	Uneori (5–29%)
Inguinal hernia	Uneori (5–29%)
Nasogastric tube feeding	Uneori (5–29%)
Umbilical hernia	Uneori (5–29%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Low-set ears	Des (30–79%)
Conductive deafness	Uneori (5–29%)
Recurrent middle ear infection	Uneori (5–29%)
Cochlear malformation	Rar (1–4%)
Ears rotated toward back of head	Neînregistrat
Prominent ear	Neînregistrat

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
An opening in the wall separating the top two chambers of the heart	Uneori (5–29%)
Mesocardia	Uneori (5–29%)
Narrowing of aorta	Uneori (5–29%)
Persistent left superior vena cava	Uneori (5–29%)
Tetralogy of Fallot	Rar (1–4%)

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Cross-eyed	Des (30–79%)
Deeply set eye	Uneori (5–29%)
Farsightedness	Uneori (5–29%)
Abnormal anterior chamber morphology	Rar (1–4%)
Close sighted	Neînregistrat

Growth abnormality

Trăsătură	Cât de frecvent apare
Short stature	Foarte des (80–99%)
Small for gestational age	Foarte des (80–99%)
Growth delay	Des (30–79%)

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Generalized hypertrichosis	Întotdeauna
Excessive hairiness	Neînregistrat

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Early onset of puberty	Uneori (5–29%)

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Baby eczema	Întotdeauna

Abnormality of the voice

Trăsătură	Cât de frecvent apare
Nasal speech	Uneori (5–29%)

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Gluten intolerance	Rar (1–4%)

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

Human Phenotype Ontology, versiunea 2026-09-01: trăsăturile asociate cu SRCAP și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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