Tunnused

Geeniga RAB3GAP2 seotud tunnused

RAB3 GTPase activating non-catalytic protein subunit 2

Inimese fenotüübi ontoloogia seostab geeniga RAB3GAP2 137 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

RAB3GAP2

Abnormality of the nervous system

Tunnus	Kui sageli seda täheldatakse
Absent speech development	Alati
Clonus	Alati
Delayed ability to sit	Alati
Delayed ability to walk	Alati
Delayed speech and language development	Alati
Diminished deep tendon reflex	Alati
Enlarged sylvian cistern	Alati
Generalized brain degeneration	Alati
Global developmental delay	Alati
Intellectual disability, severe	Alati
More grooves in brain	Alati
Periventricular white matter hyperintensities	Alati
Severe global developmental delay	Alati
Underdevelopment of part of brain called corpus callosum	Alati
Aplasia/Hypoplasia of the corpus callosum	Väga sageli (80–99%)
Fewer and broader ridges in brain	Väga sageli (80–99%)
Fewer or absent grooves in brain	Väga sageli (80–99%)
Intellectual disability	Väga sageli (80–99%)
Abnormal myelination	Sageli (30–79%)
Abnormality of movement	Sageli (30–79%)
Agenesis of corpus callosum	Sageli (30–79%)
Aplasia/Hypoplasia of the cerebellar vermis	Sageli (30–79%)
Decrease in size of the outer layer of the brain due to loss of brain cells	Sageli (30–79%)
Fluid-filled sac located in membrane surrounding brain or spinal cord	Sageli (30–79%)
Hand tremor	Sageli (30–79%)
Intellectual disability, mild	Sageli (30–79%)
Ventriculomegaly	Sageli (30–79%)
Abnormality of the cerebellum	Mõnikord (5–29%)
Cerebellar vermis hypoplasia	Mõnikord (5–29%)
Epilepsy	Mõnikord (5–29%)
Peripheral neuropathy	Mõnikord (5–29%)

Abnormality of head or neck

Tunnus	Kui sageli seda täheldatakse
Abnormally small head	Alati
Broad head shape	Alati
Decreased size of maxilla	Alati
Long philtrum	Alati
Low hairline at back of neck	Alati
Prominent nasal bridge	Alati
Short nose	Alati
Short philtrum	Alati
Drooping lower lip	Väga sageli (80–99%)
Grooved tongue	Väga sageli (80–99%)
High palate	Väga sageli (80–99%)
Midface retrusion	Väga sageli (80–99%)
Nasal tip, upturned	Väga sageli (80–99%)
Wide nasal bridge	Väga sageli (80–99%)
Zygomatic flattening	Väga sageli (80–99%)
Abnormal dental position	Sageli (30–79%)
Depressed nasal bridge	Sageli (30–79%)
Little lower jaw	Sageli (30–79%)
Low frontal hairline	Sageli (30–79%)
Broad nasal tip	Pole registreeritud
Development of small head that was not present at birth	Pole registreeritud
Downward slanting of the opening between the eyelids	Pole registreeritud
Eye folds	Pole registreeritud

Abnormality of limbs

Tunnus	Kui sageli seda täheldatakse
Avascular necrosis of the capital femoral epiphysis	Alati
Clinodactyly of the 5th toe	Alati
Curvature of 4th toe	Alati
Dropped arches	Alati
Increased mobility in finger joint	Alati
Talipes valgus	Alati
Abnormality of the hand	Sageli (30–79%)
Abnormality of the outermost finger bone	Sageli (30–79%)
Broad femoral neck	Sageli (30–79%)
Finger bends toward pinky	Sageli (30–79%)
Osteopathia striata	Sageli (30–79%)
Broad fingertip	Pole registreeritud
Club feet	Pole registreeritud
Front half of foot turns inward	Pole registreeritud
Overlapping toe	Pole registreeritud
Short finger bones	Pole registreeritud
Short palm	Pole registreeritud
Short toe	Pole registreeritud
Shortened long bone of hand	Pole registreeritud
Slender ulna	Pole registreeritud

Abnormality of the musculoskeletal system

Tunnus	Kui sageli seda täheldatakse
Low muscle tone	Alati
Spastic diplegia	Alati
Thoracic scoliosis	Alati
Involuntary muscle stiffness, contraction, or spasm	Väga sageli (80–99%)
Joint stiffness	Väga sageli (80–99%)
Hunched back	Sageli (30–79%)
Lower limb spasticity	Sageli (30–79%)
Progressive spastic paraplegia	Sageli (30–79%)
Prominent swayback	Sageli (30–79%)
Scoliosis	Sageli (30–79%)
Spastic dysarthria	Sageli (30–79%)
Double-Jointed	Pole registreeritud
Excessive inward curvature of lower spine	Pole registreeritud
Flexed joint that cannot be straightened	Pole registreeritud
Funnel chest	Pole registreeritud
Low muscle tone in trunk	Pole registreeritud
Pigeon chest	Pole registreeritud

Abnormality of the eye

Tunnus	Kui sageli seda täheldatakse
Abnormally small eyeball	Alati
Clouding of the lens of the eye	Alati
Clouding of the lens of the eye at birth	Alati
Deeply set eye	Alati
Cerebral visual impairment	Väga sageli (80–99%)
Cornea of eye less than 10mm in diameter	Väga sageli (80–99%)
Optic atrophy	Väga sageli (80–99%)
Abnormal retinal pigmentation	Sageli (30–79%)
Abnormality of visual evoked potentials	Sageli (30–79%)
Abnormally close eyes	Sageli (30–79%)
Cross-eyed	Sageli (30–79%)
Hole in the back of the eye	Mõnikord (5–29%)
Undetectable visual evoked potentials	Pole registreeritud

Abnormality of the genitourinary system

Tunnus	Kui sageli seda täheldatakse
Short penis	Alati
Undescended testes	Alati
Small clitoris	Sageli (30–79%)
Underdeveloped inner lips	Sageli (30–79%)
Underdeveloped penis	Sageli (30–79%)
Abnormal localisation of kidneys	Mõnikord (5–29%)
Hydronephrosis	Mõnikord (5–29%)
Small labia majora	Pole registreeritud
Smaller than typical growth of scrotum	Pole registreeritud

Abnormality of the ear

Tunnus	Kui sageli seda täheldatakse
Asymmetric ears	Alati
Large ears	Alati
Low-set ears	Alati
Ears rotated toward back of head	Sageli (30–79%)
Hearing impairment	Sageli (30–79%)
Abnormal antihelix morphology	Mõnikord (5–29%)
Prominent antitragus	Pole registreeritud

Abnormality of the integument

Tunnus	Kui sageli seda täheldatakse
Abnormal fingerprints	Väga sageli (80–99%)
Prematurely aged appearance	Väga sageli (80–99%)
Abnormality of the toenail	Sageli (30–79%)
Excessive hairiness over body	Sageli (30–79%)

Abnormality of the cardiovascular system

Tunnus	Kui sageli seda täheldatakse
Heart stops beating	Sageli (30–79%)
Cardiac failure	Pole registreeritud
Disease of the heart muscle	Pole registreeritud

Growth abnormality

Tunnus	Kui sageli seda täheldatakse
Short stature	Väga sageli (80–99%)
Prenatal growth deficiency	Sageli (30–79%)
Growth delay as children	Pole registreeritud

Abnormality of the digestive system

Tunnus	Kui sageli seda täheldatakse
Feeding difficulties in infancy	Alati
Inguinal hernia	Sageli (30–79%)

Abnormality of the endocrine system

Tunnus	Kui sageli seda täheldatakse
Delayed puberty	Väga sageli (80–99%)
Hypogonadotropic hypogonadism	Väga sageli (80–99%)

Abnormality of the breast

Tunnus	Kui sageli seda täheldatakse
Prominent nipples	Pole registreeritud

Abnormality of the immune system

Tunnus	Kui sageli seda täheldatakse
Recurrent respiratory infections	Pole registreeritud

Abnormality of the respiratory system

Tunnus	Kui sageli seda täheldatakse
Floppy windpipe	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 RAB3GAP2 seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

Üks test. Vastused kogu eluks.

Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast

Telli oma Genome Test