Trăsături

Trăsături asociate cu HRAS

HRas proto-oncogene, GTPase

Human Phenotype Ontology asociază 206 trăsături cu HRAS, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

HRAS

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Adenoma sebaceum	Foarte des (80–99%)
Big calvaria	Foarte des (80–99%)
Corners of eye widely separated	Foarte des (80–99%)
Decreased width of the skull	Foarte des (80–99%)
Depressed nasal bridge	Foarte des (80–99%)
Frontal bossing	Foarte des (80–99%)
Narrow palate	Foarte des (80–99%)
Prominent back of the head	Foarte des (80–99%)
Short neck	Foarte des (80–99%)
Abnormal dentition	Des (30–79%)
Abnormal tooth enamel	Des (30–79%)
Abnormally large tongue	Des (30–79%)
Asymmetry of the posterior head	Des (30–79%)
Eye folds	Des (30–79%)
Facial asymmetry	Des (30–79%)
Full cheeks	Des (30–79%)
Full lower lip	Des (30–79%)
Thickened skin folds of neck	Des (30–79%)
Coarse facial features	Uneori (5–29%)
Dandy-Walker malformation	Uneori (5–29%)
Gap between front teeth	Uneori (5–29%)
Large face	Uneori (5–29%)
Abnormality of dental color	Neînregistrat
Abnormality of dental shape	Neînregistrat
Abnormality of head shape	Neînregistrat
Anterior position of the premaxilla	Neînregistrat
Broad forehead	Neînregistrat
Broad nasal tip	Neînregistrat
Deep philtrum	Neînregistrat
Downward slanting of the opening between the eyelids	Neînregistrat
Drooping lower lip	Neînregistrat
Fullness around the eyes	Neînregistrat
High palate	Neînregistrat
Little lower jaw	Neînregistrat
Long philtrum	Neînregistrat
Narrow nasal ridge	Neînregistrat
Nasal tip, upturned	Neînregistrat
Open mouth	Neînregistrat
Pointed chin	Neînregistrat
Prominent forehead	Neînregistrat
Redundant neck skin	Neînregistrat
Round face	Neînregistrat
Short nose	Neînregistrat
Webbed neck	Neînregistrat
Wider-than-typical soft spot of skull	Neînregistrat

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Abnormal fingernails	Foarte des (80–99%)
Abnormality of the skin	Foarte des (80–99%)
Afro-textured hair	Foarte des (80–99%)
Afro-textured scalp hair	Foarte des (80–99%)
Beauty mark	Foarte des (80–99%)
Curly hair	Foarte des (80–99%)
Darkened and thickened skin	Foarte des (80–99%)
Deep-set nails	Foarte des (80–99%)
Fine hair	Foarte des (80–99%)
Hair loss	Foarte des (80–99%)
Hyperkeratosis	Foarte des (80–99%)
Linear nevus sebaceous	Foarte des (80–99%)
Loose redundant skin	Foarte des (80–99%)
Nevus spilus	Foarte des (80–99%)
Patchy hypopigmentation of hair	Foarte des (80–99%)
Spoon-shaped nails	Foarte des (80–99%)
Tight skin	Foarte des (80–99%)
Abnormal fingerprints	Des (30–79%)
Congenital posterior occipital alopecia	Des (30–79%)
Irregular hyperpigmentation	Des (30–79%)
Papilloma	Des (30–79%)
Underdeveloped toenails	Des (30–79%)
Verrucous epidermal nevus	Des (30–79%)
Abnormality of the hair	Uneori (5–29%)
Basal cell carcinoma	Uneori (5–29%)
Generalized hyperpigmentation	Uneori (5–29%)
Blue nevus	Rar (1–4%)
Cutaneous melanoma	Rar (1–4%)
Excessive sweating	Rar (1–4%)
Patchy baldness	Rar (1–4%)
Brittle nails	Neînregistrat
Giant pigmented mole	Neînregistrat
Ichthyosis	Neînregistrat
Mole	Neînregistrat
Nevus sebaceous	Neînregistrat
Numerous moles	Neînregistrat
Patchy darkened skin	Neînregistrat
Patchy lightened skin	Neînregistrat
Sparse hair	Neînregistrat
Thin nail	Neînregistrat

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Absent/small cerebellum	Foarte des (80–99%)
Diminished deep tendon reflex	Foarte des (80–99%)
EEG abnormality	Foarte des (80–99%)
Epilepsy	Foarte des (80–99%)
Increased reflexes	Foarte des (80–99%)
Intellectual disability	Foarte des (80–99%)
Ventriculomegaly	Foarte des (80–99%)
Cavity within brain	Des (30–79%)
Decrease in size of the outer layer of the brain due to loss of brain cells	Des (30–79%)
Aplasia/Hypoplasia of the corpus callosum	Uneori (5–29%)
Neurodevelopmental delay	Uneori (5–29%)
Fluid-filled sac located in membrane surrounding brain or spinal cord	Rar (1–4%)
Hyperesthesia	Rar (1–4%)
Split spine	Rar (1–4%)
Weakness of one side of body	Rar (1–4%)
Chiari type I malformation	Neînregistrat
Degeneration of cerebrum	Neînregistrat
Enlarged cerebellum	Neînregistrat
Global developmental delay	Neînregistrat
Hemimegalencephaly	Neînregistrat
Obstructive sleep apnea	Neînregistrat
Too much cerebrospinal fluid in the brain	Neînregistrat

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Abnormally small eyeball	Foarte des (80–99%)
Cat eye	Foarte des (80–99%)
Drooping upper eyelid	Foarte des (80–99%)
Abnormality of the eye	Des (30–79%)
Abnormality of vision	Des (30–79%)
Astigmatism	Des (30–79%)
Bulging cornea	Des (30–79%)
Close sighted	Des (30–79%)
Cross-eyed	Des (30–79%)
Involuntary, rapid, rhythmic eye movements	Des (30–79%)
Optic disc pallor	Des (30–79%)
Compensatory head posture	Uneori (5–29%)
Corneal opacity	Uneori (5–29%)
Different colored eyes	Uneori (5–29%)
Eye muscle paralysis	Uneori (5–29%)
Farsightedness	Uneori (5–29%)
Persistent pupillary membrane	Uneori (5–29%)
Glaucoma	Rar (1–4%)
Notched pupil	Rar (1–4%)
Wide-set eyes	Neînregistrat

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Back knee	Foarte des (80–99%)
Finger bends toward pinky	Des (30–79%)
Thickened Achilles tendon	Des (30–79%)
Asymmetric limb shortening	Uneori (5–29%)
Short fingers or toes	Uneori (5–29%)
Asymmetric overgrowth	Rar (1–4%)
Abnormalities of the fingers	Neînregistrat
Abnormalities of the toes	Neînregistrat
Club feet	Neînregistrat
Deep palm line	Neînregistrat
Deep wrinkles in soles of feet	Neînregistrat
Finger joint hyperextensibility	Neînregistrat
Limited elbow movement	Neînregistrat
Shortening of the achilles tendon	Neînregistrat

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Delayed bone maturation	Foarte des (80–99%)
Low muscle tone	Foarte des (80–99%)
Vertebral segmentation defect	Foarte des (80–99%)
Double-Jointed	Des (30–79%)
Scoliosis	Des (30–79%)
Abnormal deposits of calcium in the brain	Uneori (5–29%)
Hypophosphatemic rickets	Uneori (5–29%)
Rhabdomyosarcoma	Uneori (5–29%)
Barrel-shaped chest	Neînregistrat
Kyphoscoliosis	Neînregistrat
Osteopenia	Neînregistrat
Pigeon chest	Neînregistrat
Recurrent fractures	Neînregistrat

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Collection of dilated blood vessels that forms mass	Foarte des (80–99%)
Hole in heart wall separating two lower heart chambers	Foarte des (80–99%)
Narrowing of pulmonic valve	Foarte des (80–99%)
Enlarged and thickened heart muscle	Des (30–79%)
Mitral valve prolapse	Des (30–79%)
Abnormal heart rate	Rar (1–4%)
Raynaud phenomenon	Rar (1–4%)
Strawberry mark	Rar (1–4%)
An opening in the wall separating the top two chambers of the heart	Neînregistrat
Lymphangiectasis	Neînregistrat
Narrowing of aorta	Neînregistrat

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Undescended testes	Des (30–79%)
Renal failure	Uneori (5–29%)
Nephroblastoma	Rar (1–4%)
Renal transitional cell carcinoma	Rar (1–4%)
Small kidney on one side	Rar (1–4%)
Bladder carcinoma	Neînregistrat
Bladder neoplasm	Neînregistrat
Horseshoe kidney	Neînregistrat
Transitional cell carcinoma of the bladder	Neînregistrat

Growth abnormality

Trăsătură	Cât de frecvent apare
Faltering weight in infancy	Foarte des (80–99%)
Short stature	Foarte des (80–99%)
Uneven or disproportionate growth of one body part compared to another	Foarte des (80–99%)
Growth delay	Uneori (5–29%)
Faltering weight	Neînregistrat
General overgrowth	Neînregistrat

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Ears rotated toward back of head	Uneori (5–29%)
Enlarged vestibular aqueduct	Uneori (5–29%)
Large earlobe	Uneori (5–29%)
Low-set ears	Neînregistrat
Vestibular schwannoma	Neînregistrat

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Early onset of puberty	Uneori (5–29%)
Pheochromocytoma	Rar (1–4%)
Follicular thyroid carcinoma	Neînregistrat
Non-medullary thyroid carcinoma	Neînregistrat
Papillary thyroid carcinoma	Neînregistrat

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Bronchomalacia	Neînregistrat
Collapsed lung	Neînregistrat
Floppy windpipe	Neînregistrat
Respiratory failure	Neînregistrat
Respiratory function loss	Neînregistrat

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Feeding difficulties in infancy	Foarte des (80–99%)
Acid reflux	Des (30–79%)
Poor suck	Uneori (5–29%)
Pyloric stenosis	Neînregistrat

Laboratory abnormality

Trăsătură	Cât de frecvent apare
High urine phosphate levels	Uneori (5–29%)
Swelling caused by excess lymph fluid under skin	Rar (1–4%)
Low blood sugar	Neînregistrat

Abnormality of prenatal development or birth

Trăsătură	Cât de frecvent apare
High levels of amniotic fluid	Des (30–79%)
Premature birth	Neînregistrat

Abnormality of the voice

Trăsătură	Cât de frecvent apare
Hoarse voice	Neînregistrat

Constitutional symptom

Trăsătură	Cât de frecvent apare
Sudden death	Neînregistrat

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

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