Trăsături

Trăsături asociate cu HERC2

HECT and RLD domain containing E3 ubiquitin protein ligase 2

Human Phenotype Ontology asociază 106 trăsături cu HERC2, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

HERC2

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Delayed ability to walk	Întotdeauna
Delayed speech and language development	Întotdeauna
Global developmental delay	Întotdeauna
Intellectual disability	Întotdeauna
Autism spectrum disorder	Foarte des (80–99%)
Motor delay	Foarte des (80–99%)
Self-injurious behavior	Foarte des (80–99%)
Specific learning disability	Foarte des (80–99%)
Unsteady walk	Foarte des (80–99%)
Attention deficit	Des (30–79%)
Behavioral abnormality	Des (30–79%)
Difficulty sleeping	Des (30–79%)
Excessive daytime sleepiness	Des (30–79%)
Impaired pain sensation	Des (30–79%)
Increased appetite	Des (30–79%)
Pauses in breathing while sleeping	Des (30–79%)
Self-mutilation	Des (30–79%)
Ventriculomegaly	Des (30–79%)
Autism	Uneori (5–29%)
Epilepsy	Uneori (5–29%)
Febrile seizure (within the age range of 3 months to 6 years)	Uneori (5–29%)
Poor fine motor coordination	Uneori (5–29%)
Psychosis	Uneori (5–29%)
Aggressive behavior	Neînregistrat
Echoing another person's speech	Neînregistrat
More active than typical	Neînregistrat
Poor concentration	Neînregistrat
Poor gross motor coordination	Neînregistrat
Recurrent hand flapping	Neînregistrat

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Almond shaped eyes	Des (30–79%)
Downturned corners of mouth	Des (30–79%)
Narrow forehead	Des (30–79%)
Narrow nasal bridge	Des (30–79%)
Thin red part of the upper lip	Des (30–79%)
Dental cavities	Uneori (5–29%)
Upward slanting of the opening between the eyelids	Uneori (5–29%)
Asymmetry of the posterior head	Neînregistrat
Big lower jaw	Neînregistrat
Long, narrow head	Neînregistrat
Narrow palate	Neînregistrat

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Narrow palm	Foarte des (80–99%)
Short foot	Foarte des (80–99%)
Short palm	Foarte des (80–99%)
Radial deviation of finger	Uneori (5–29%)
Webbed fingers or toes	Uneori (5–29%)
Acromicria	Neînregistrat
Curvature of digit	Neînregistrat
Gap between 1st and 2nd toes	Neînregistrat
Knock knees	Neînregistrat
Small hand	Neînregistrat

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Infertility	Foarte des (80–99%)
Underdevelopment of external reproductive organs	Foarte des (80–99%)
Undescended testes	Foarte des (80–99%)
Light or infrequent menstrual periods	Des (30–79%)
Short penis	Des (30–79%)
Small clitoris	Des (30–79%)
Underdeveloped inner lips	Des (30–79%)
Primary amenorrhea	Uneori (5–29%)
Smaller than typical growth of scrotum	Neînregistrat

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Low muscle tone, in neonatal onset	Întotdeauna
Generalized decreased muscle tone	Foarte des (80–99%)
Scoliosis	Foarte des (80–99%)
Abnormal formation of the hip	Des (30–79%)
Decreased muscle mass	Des (30–79%)
Hunched back	Des (30–79%)
Osteopenia	Uneori (5–29%)
Osteoporosis	Uneori (5–29%)

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Decreased circulating high-density lipoprotein cholesterol	Des (30–79%)
Elevated serum cholesterol	Des (30–79%)
Fluid retention	Des (30–79%)
Increased plasma triglycerides	Uneori (5–29%)
Noninsulin-dependent diabetes	Uneori (5–29%)
Temperature instability	Uneori (5–29%)
Hyperinsulinemia	Neînregistrat

Abnormality of prenatal development or birth

Trăsătură	Cât de frecvent apare
Less than 10 fetal movements in 12 hours	Des (30–79%)
Feet or buttocks of fetus positioned near opening of uterus	Uneori (5–29%)
High levels of amniotic fluid	Uneori (5–29%)
Low 1-minute APGAR score	Uneori (5–29%)
Low 5-minute APGAR score	Uneori (5–29%)
Low levels of amniotic fluid	Uneori (5–29%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Faltering weight in infancy	Foarte des (80–99%)
Short stature	Foarte des (80–99%)
Class III obesity	Des (30–79%)
Obesity	Des (30–79%)
Prenatal growth deficiency	Uneori (5–29%)
Abdominal obesity	Neînregistrat

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Decreased response to growth hormone stimulation test	Foarte des (80–99%)
Hypogonadotropic hypogonadism	Foarte des (80–99%)
Delayed puberty	Des (30–79%)
Adrenal insufficiency	Rar (1–4%)
Early onset of puberty	Neînregistrat

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Close sighted	Uneori (5–29%)
Inward turning cross eyed	Uneori (5–29%)
Blue eyes	Neînregistrat
Cross-eyed	Neînregistrat
Farsightedness	Neînregistrat

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Feeding difficulties in infancy	Foarte des (80–99%)
Poor suck	Foarte des (80–99%)
Tube feeding	Foarte des (80–99%)
Chronic constipation	Des (30–79%)

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Photosensitive skin	Des (30–79%)
Frontal upsweep of hair	Uneori (5–29%)
Fair skin	Neînregistrat

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Recurrent respiratory infections	Des (30–79%)

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Slow breathing	Neînregistrat

Abnormality of the voice

Trăsătură	Cât de frecvent apare
Nasal speech	Des (30–79%)

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 HERC2 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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