Tunnused

Geeniga HRAS seotud tunnused

HRas proto-oncogene, GTPase

Inimese fenotüübi ontoloogia seostab geeniga HRAS 206 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

HRAS

Abnormality of head or neck

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

Abnormality of the integument

Tunnus	Kui sageli seda täheldatakse
Abnormal fingernails	Väga sageli (80–99%)
Abnormality of the skin	Väga sageli (80–99%)
Afro-textured hair	Väga sageli (80–99%)
Afro-textured scalp hair	Väga sageli (80–99%)
Beauty mark	Väga sageli (80–99%)
Curly hair	Väga sageli (80–99%)
Darkened and thickened skin	Väga sageli (80–99%)
Deep-set nails	Väga sageli (80–99%)
Fine hair	Väga sageli (80–99%)
Hair loss	Väga sageli (80–99%)
Hyperkeratosis	Väga sageli (80–99%)
Linear nevus sebaceous	Väga sageli (80–99%)
Loose redundant skin	Väga sageli (80–99%)
Nevus spilus	Väga sageli (80–99%)
Patchy hypopigmentation of hair	Väga sageli (80–99%)
Spoon-shaped nails	Väga sageli (80–99%)
Tight skin	Väga sageli (80–99%)
Abnormal fingerprints	Sageli (30–79%)
Congenital posterior occipital alopecia	Sageli (30–79%)
Irregular hyperpigmentation	Sageli (30–79%)
Papilloma	Sageli (30–79%)
Underdeveloped toenails	Sageli (30–79%)
Verrucous epidermal nevus	Sageli (30–79%)
Abnormality of the hair	Mõnikord (5–29%)
Basal cell carcinoma	Mõnikord (5–29%)
Generalized hyperpigmentation	Mõnikord (5–29%)
Blue nevus	Harva (1–4%)
Cutaneous melanoma	Harva (1–4%)
Excessive sweating	Harva (1–4%)
Patchy baldness	Harva (1–4%)
Brittle nails	Pole registreeritud
Giant pigmented mole	Pole registreeritud
Ichthyosis	Pole registreeritud
Mole	Pole registreeritud
Nevus sebaceous	Pole registreeritud
Numerous moles	Pole registreeritud
Patchy darkened skin	Pole registreeritud
Patchy lightened skin	Pole registreeritud
Sparse hair	Pole registreeritud
Thin nail	Pole registreeritud

Abnormality of the nervous system

Tunnus	Kui sageli seda täheldatakse
Absent/small cerebellum	Väga sageli (80–99%)
Diminished deep tendon reflex	Väga sageli (80–99%)
EEG abnormality	Väga sageli (80–99%)
Epilepsy	Väga sageli (80–99%)
Increased reflexes	Väga sageli (80–99%)
Intellectual disability	Väga sageli (80–99%)
Ventriculomegaly	Väga sageli (80–99%)
Cavity within brain	Sageli (30–79%)
Decrease in size of the outer layer of the brain due to loss of brain cells	Sageli (30–79%)
Aplasia/Hypoplasia of the corpus callosum	Mõnikord (5–29%)
Neurodevelopmental delay	Mõnikord (5–29%)
Fluid-filled sac located in membrane surrounding brain or spinal cord	Harva (1–4%)
Hyperesthesia	Harva (1–4%)
Split spine	Harva (1–4%)
Weakness of one side of body	Harva (1–4%)
Chiari type I malformation	Pole registreeritud
Degeneration of cerebrum	Pole registreeritud
Enlarged cerebellum	Pole registreeritud
Global developmental delay	Pole registreeritud
Hemimegalencephaly	Pole registreeritud
Obstructive sleep apnea	Pole registreeritud
Too much cerebrospinal fluid in the brain	Pole registreeritud

Abnormality of the eye

Tunnus	Kui sageli seda täheldatakse
Abnormally small eyeball	Väga sageli (80–99%)
Cat eye	Väga sageli (80–99%)
Drooping upper eyelid	Väga sageli (80–99%)
Abnormality of the eye	Sageli (30–79%)
Abnormality of vision	Sageli (30–79%)
Astigmatism	Sageli (30–79%)
Bulging cornea	Sageli (30–79%)
Close sighted	Sageli (30–79%)
Cross-eyed	Sageli (30–79%)
Involuntary, rapid, rhythmic eye movements	Sageli (30–79%)
Optic disc pallor	Sageli (30–79%)
Compensatory head posture	Mõnikord (5–29%)
Corneal opacity	Mõnikord (5–29%)
Different colored eyes	Mõnikord (5–29%)
Eye muscle paralysis	Mõnikord (5–29%)
Farsightedness	Mõnikord (5–29%)
Persistent pupillary membrane	Mõnikord (5–29%)
Glaucoma	Harva (1–4%)
Notched pupil	Harva (1–4%)
Wide-set eyes	Pole registreeritud

Abnormality of limbs

Tunnus	Kui sageli seda täheldatakse
Back knee	Väga sageli (80–99%)
Finger bends toward pinky	Sageli (30–79%)
Thickened Achilles tendon	Sageli (30–79%)
Asymmetric limb shortening	Mõnikord (5–29%)
Short fingers or toes	Mõnikord (5–29%)
Asymmetric overgrowth	Harva (1–4%)
Abnormalities of the fingers	Pole registreeritud
Abnormalities of the toes	Pole registreeritud
Club feet	Pole registreeritud
Deep palm line	Pole registreeritud
Deep wrinkles in soles of feet	Pole registreeritud
Finger joint hyperextensibility	Pole registreeritud
Limited elbow movement	Pole registreeritud
Shortening of the achilles tendon	Pole registreeritud

Abnormality of the musculoskeletal system

Tunnus	Kui sageli seda täheldatakse
Delayed bone maturation	Väga sageli (80–99%)
Low muscle tone	Väga sageli (80–99%)
Vertebral segmentation defect	Väga sageli (80–99%)
Double-Jointed	Sageli (30–79%)
Scoliosis	Sageli (30–79%)
Abnormal deposits of calcium in the brain	Mõnikord (5–29%)
Hypophosphatemic rickets	Mõnikord (5–29%)
Rhabdomyosarcoma	Mõnikord (5–29%)
Barrel-shaped chest	Pole registreeritud
Kyphoscoliosis	Pole registreeritud
Osteopenia	Pole registreeritud
Pigeon chest	Pole registreeritud
Recurrent fractures	Pole registreeritud

Abnormality of the cardiovascular system

Tunnus	Kui sageli seda täheldatakse
Collection of dilated blood vessels that forms mass	Väga sageli (80–99%)
Hole in heart wall separating two lower heart chambers	Väga sageli (80–99%)
Narrowing of pulmonic valve	Väga sageli (80–99%)
Enlarged and thickened heart muscle	Sageli (30–79%)
Mitral valve prolapse	Sageli (30–79%)
Abnormal heart rate	Harva (1–4%)
Raynaud phenomenon	Harva (1–4%)
Strawberry mark	Harva (1–4%)
An opening in the wall separating the top two chambers of the heart	Pole registreeritud
Lymphangiectasis	Pole registreeritud
Narrowing of aorta	Pole registreeritud

Abnormality of the genitourinary system

Tunnus	Kui sageli seda täheldatakse
Undescended testes	Sageli (30–79%)
Renal failure	Mõnikord (5–29%)
Nephroblastoma	Harva (1–4%)
Renal transitional cell carcinoma	Harva (1–4%)
Small kidney on one side	Harva (1–4%)
Bladder carcinoma	Pole registreeritud
Bladder neoplasm	Pole registreeritud
Horseshoe kidney	Pole registreeritud
Transitional cell carcinoma of the bladder	Pole registreeritud

Growth abnormality

Tunnus	Kui sageli seda täheldatakse
Faltering weight in infancy	Väga sageli (80–99%)
Short stature	Väga sageli (80–99%)
Uneven or disproportionate growth of one body part compared to another	Väga sageli (80–99%)
Growth delay	Mõnikord (5–29%)
Faltering weight	Pole registreeritud
General overgrowth	Pole registreeritud

Abnormality of the ear

Tunnus	Kui sageli seda täheldatakse
Ears rotated toward back of head	Mõnikord (5–29%)
Enlarged vestibular aqueduct	Mõnikord (5–29%)
Large earlobe	Mõnikord (5–29%)
Low-set ears	Pole registreeritud
Vestibular schwannoma	Pole registreeritud

Abnormality of the endocrine system

Tunnus	Kui sageli seda täheldatakse
Early onset of puberty	Mõnikord (5–29%)
Pheochromocytoma	Harva (1–4%)
Follicular thyroid carcinoma	Pole registreeritud
Non-medullary thyroid carcinoma	Pole registreeritud
Papillary thyroid carcinoma	Pole registreeritud

Abnormality of the respiratory system

Tunnus	Kui sageli seda täheldatakse
Bronchomalacia	Pole registreeritud
Collapsed lung	Pole registreeritud
Floppy windpipe	Pole registreeritud
Respiratory failure	Pole registreeritud
Respiratory function loss	Pole registreeritud

Abnormality of the digestive system

Tunnus	Kui sageli seda täheldatakse
Feeding difficulties in infancy	Väga sageli (80–99%)
Acid reflux	Sageli (30–79%)
Poor suck	Mõnikord (5–29%)
Pyloric stenosis	Pole registreeritud

Laboratory abnormality

Tunnus	Kui sageli seda täheldatakse
High urine phosphate levels	Mõnikord (5–29%)
Swelling caused by excess lymph fluid under skin	Harva (1–4%)
Low blood sugar	Pole registreeritud

Abnormality of prenatal development or birth

Tunnus	Kui sageli seda täheldatakse
High levels of amniotic fluid	Sageli (30–79%)
Premature birth	Pole registreeritud

Abnormality of the voice

Tunnus	Kui sageli seda täheldatakse
Hoarse voice	Pole registreeritud

Constitutional symptom

Tunnus	Kui sageli seda täheldatakse
Sudden death	Pole registreeritud

Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.

Allikas

Inimese fenotüübi ontoloogia, versioon 2026-09-01: geeniga HRAS seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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