Traits

Traits linked to SH2B1

SH2B adaptor protein 1

The Human Phenotype Ontology links 78 traits to SH2B1, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	Cât de frecvent apare
Attention deficit	Foarte des (80–99%)
Autism spectrum disorder	Foarte des (80–99%)
Behavioral abnormality	Foarte des (80–99%)
Delayed speech and language development	Foarte des (80–99%)
Global developmental delay	Foarte des (80–99%)
Increased appetite	Foarte des (80–99%)
Poor social interactions	Foarte des (80–99%)
Aggressive behavior	Des (30–79%)
Brain imaging abnormality	Des (30–79%)
Epilepsy	Des (30–79%)
Intellectual disability	Des (30–79%)
Intellectual disability, mild	Des (30–79%)
Moderate receptive language delay	Des (30–79%)
Motor delay	Des (30–79%)
No social interaction	Des (30–79%)
Severe expressive language delay	Des (30–79%)
Specific learning disability	Des (30–79%)
Speech articulation difficulties	Des (30–79%)
Autism	Uneori (5–29%)
Chiari type I malformation	Uneori (5–29%)
Choreoathetosis	Uneori (5–29%)
Dystonia	Uneori (5–29%)
Fluid-filled sac located in membrane surrounding brain or spinal cord	Uneori (5–29%)
Migraine	Uneori (5–29%)
Paroxysmal dyskinesia	Uneori (5–29%)
Repetitive movements	Uneori (5–29%)
Speech apraxia	Uneori (5–29%)
Ventriculomegaly	Uneori (5–29%)
Fluid-filled cyst in spinal cord	Rar (1–4%)

Abnormality of head or neck

Trait	Cât de frecvent apare
Low frontal hairline	Foarte des (80–99%)
Narrow mouth	Foarte des (80–99%)
Oval face	Foarte des (80–99%)
Prominent nasal bridge	Foarte des (80–99%)
Big calvaria	Des (30–79%)
Abnormal facial shape	Uneori (5–29%)
Broad forehead	Uneori (5–29%)
Enlarged cisterna magna	Uneori (5–29%)
Flattening of the skull base	Uneori (5–29%)
Little lower jaw	Uneori (5–29%)
Midface retrusion	Uneori (5–29%)
Cleft palate	Rar (1–4%)
Deformity of the skull	Rar (1–4%)

Abnormality of the musculoskeletal system

Trait	Cât de frecvent apare
Low muscle tone, in neonatal onset	Foarte des (80–99%)
Abnormal vertebral morphology	Uneori (5–29%)
Hunched back	Uneori (5–29%)
Scoliosis	Uneori (5–29%)
Congenital diaphragmatic hernia	Rar (1–4%)
Rib fusion	Rar (1–4%)

Laboratory abnormality

Trait	Cât de frecvent apare
Hyperinsulinemia	Foarte des (80–99%)
High blood uric acid level	Des (30–79%)
High urine protein levels	Des (30–79%)
Elevated lipids in blood	Neînregistrat
High blood sugar	Neînregistrat
High liver enzymes	Neînregistrat

Abnormality of the digestive system

Trait	Cât de frecvent apare
Chronic constipation	Des (30–79%)
Enlarged colon lacking nerve cells	Des (30–79%)
Acid reflux	Uneori (5–29%)
Feeding difficulties	Uneori (5–29%)
Pyloric stenosis	Rar (1–4%)

Abnormality of the genitourinary system

Trait	Cât de frecvent apare
Abnormality of the kidney	Des (30–79%)
Absent kidney	Des (30–79%)
Chronic kidney disease	Des (30–79%)
Vesicoureteral reflux	Des (30–79%)
Multicystic kidney dysplasia	Rar (1–4%)

Abnormality of the cardiovascular system

Trait	Cât de frecvent apare
Abnormal aortic valve morphology	Uneori (5–29%)
Abnormality of the heart	Uneori (5–29%)
An opening in the wall separating the top two chambers of the heart	Uneori (5–29%)
Heart tip and four chambers point towards right side of body	Rar (1–4%)

Abnormality of the eye

Trait	Cât de frecvent apare
Breakdown of light-sensitive cells in back of eye	Foarte des (80–99%)
Rod-cone dystrophy	Foarte des (80–99%)
Wide-set eyes	Uneori (5–29%)

Growth abnormality

Trait	Cât de frecvent apare
Obesity	Foarte des (80–99%)
Short stature	Foarte des (80–99%)
Faltering weight	Uneori (5–29%)

Abnormality of limbs

Trait	Cât de frecvent apare
Long slender fingers	Foarte des (80–99%)
Extra finger	Rar (1–4%)

Abnormality of the ear

Trait	Cât de frecvent apare
Conductive deafness	Uneori (5–29%)
Sensorineural hearing impairment	Uneori (5–29%)

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

The Human Phenotype Ontology, release 2026-09-01: the traits linked to SH2B1 and how often each is seen. Find out more at hpo.jax.org.

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