Požymiai

Su VPS37D susiję požymiai

VPS37D subunit of ESCRT-I

Žmogaus fenotipo ontologija sieja 185 požymių su VPS37D, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.

VPS37D

Abnormality of head or neck

Požymis	Kaip dažnai pasireiškia
Abnormality of the neck	Labai dažnai (80–99%)
Abnormally large tongue	Labai dažnai (80–99%)
Broad forehead	Labai dažnai (80–99%)
Coarse facial features	Labai dažnai (80–99%)
Drooping lower lip	Labai dažnai (80–99%)
Elf-like facial appearance	Labai dažnai (80–99%)
Eye folds	Labai dažnai (80–99%)
Full lower lip	Labai dažnai (80–99%)
High forehead	Labai dažnai (80–99%)
Little lower jaw	Labai dažnai (80–99%)
Long philtrum	Labai dažnai (80–99%)
Narrow face	Labai dažnai (80–99%)
Narrow opening between the eyelids	Labai dažnai (80–99%)
Open bite	Labai dažnai (80–99%)
Periorbital edema	Labai dažnai (80–99%)
Pointed chin	Labai dažnai (80–99%)
Short nose	Labai dažnai (80–99%)
Wide mouth	Labai dažnai (80–99%)
Wide nasal bridge	Labai dažnai (80–99%)
Abnormal tooth enamel	Dažnai (30–79%)
Abnormality of dental shape	Dažnai (30–79%)
Abnormally small head	Dažnai (30–79%)
Bad bite	Dažnai (30–79%)
Cheekbone underdevelopment	Dažnai (30–79%)
Decreased size of tooth	Dažnai (30–79%)
Failure of development of between one and six teeth	Dažnai (30–79%)
Dental cavities	Kartais (5–29%)
Gum enlargement	Kartais (5–29%)
Increased nuchal translucency	Kartais (5–29%)
Retinal arteriolar tortuosity	Kartais (5–29%)

Abnormality of the nervous system

Požymis	Kaip dažnai pasireiškia
Abnormal gait	Labai dažnai (80–99%)
Abnormal shape of nervous system	Labai dažnai (80–99%)
Abnormal social behavior	Labai dažnai (80–99%)
Abnormal speech pattern	Labai dažnai (80–99%)
Abnormality of balance	Labai dažnai (80–99%)
Abnormality of extrapyramidal motor function	Labai dažnai (80–99%)
Anxiety	Labai dažnai (80–99%)
Ataxia	Labai dažnai (80–99%)
Depression	Labai dažnai (80–99%)
Dysgraphia	Labai dažnai (80–99%)
Fear of loud sounds	Labai dažnai (80–99%)
Hyperacusis	Labai dažnai (80–99%)
Increased reflexes	Labai dažnai (80–99%)
Intellectual disability	Labai dažnai (80–99%)
Involuntary movements	Labai dažnai (80–99%)
Lack of coordination of movement	Labai dažnai (80–99%)
Overfriendliness	Labai dažnai (80–99%)
Tremor	Labai dažnai (80–99%)
Attention deficit	Dažnai (30–79%)
Autism	Dažnai (30–79%)
Difficulty staying or falling asleep	Dažnai (30–79%)
Obsessive compulsive behavior	Dažnai (30–79%)
Abnormal diencephalon morphology	Kartais (5–29%)
Atrophy/Degeneration involving the corticospinal tracts	Kartais (5–29%)
Chiari malformation	Kartais (5–29%)
Decrease in size of the outer layer of the brain due to loss of brain cells	Kartais (5–29%)
Difficulty articulating speech	Kartais (5–29%)
Loss of developmental milestones	Kartais (5–29%)
Spina bifida occulta	Kartais (5–29%)

Abnormality of the cardiovascular system

Požymis	Kaip dažnai pasireiškia
Abnormality of the cardiovascular system	Labai dažnai (80–99%)
Abnormality of the cerebral blood vessels	Dažnai (30–79%)
Disruption of blood oxygen supply to brain	Dažnai (30–79%)
High blood pressure	Dažnai (30–79%)
Mitral regurgitation	Dažnai (30–79%)
Mitral valve prolapse	Dažnai (30–79%)
Narrowing of an artery	Dažnai (30–79%)
Narrowing of peripheral lung artery	Dažnai (30–79%)
Narrowing of pulmonic valve	Dažnai (30–79%)
Renovascular hypertension	Dažnai (30–79%)
Stroke	Dažnai (30–79%)
Supravalvular aortic stenosis	Dažnai (30–79%)
Abnormal cardiac septum morphology	Kartais (5–29%)
Abnormal carotid artery morphology	Kartais (5–29%)
Abnormal endocardium morphology	Kartais (5–29%)
An opening in the wall separating the top two chambers of the heart	Kartais (5–29%)
Aortic arch aneurysm	Kartais (5–29%)
Aortic valve has two leaflets rather than three	Kartais (5–29%)
Cardiac failure	Kartais (5–29%)
Enlarged and thickened heart muscle	Kartais (5–29%)
Enlarged heart	Kartais (5–29%)
Heart attack	Kartais (5–29%)
Hole in heart wall separating two lower heart chambers	Kartais (5–29%)
Overriding aorta	Kartais (5–29%)
Patent ductus arteriosus	Kartais (5–29%)
Sudden cardiac death	Kartais (5–29%)
Tetralogy of Fallot	Kartais (5–29%)

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
Abnormal shape of pelvic girdle bone	Labai dažnai (80–99%)
Hunched back	Dažnai (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Dažnai (30–79%)
Joint stiffness	Dažnai (30–79%)
Low muscle tone	Dažnai (30–79%)
Prominent swayback	Dažnai (30–79%)
Rounded shoulders	Dažnai (30–79%)
Abnormal vertebral body morphology	Kartais (5–29%)
Delayed bone maturation	Kartais (5–29%)
Double-Jointed	Kartais (5–29%)
Funnel chest	Kartais (5–29%)
Fusion of joints	Kartais (5–29%)
Increased bone mineral density	Kartais (5–29%)
Muscle tissue disease	Kartais (5–29%)
Osteopenia	Kartais (5–29%)
Osteoporosis	Kartais (5–29%)
Scoliosis	Kartais (5–29%)
Vertebral segmentation defect	Kartais (5–29%)

Abnormality of the genitourinary system

Požymis	Kaip dažnai pasireiškia
Abnormality of the bladder	Dažnai (30–79%)
Pelvic kidney	Dažnai (30–79%)
Renal failure	Dažnai (30–79%)
Abnormal tubulointerstitial morphology	Kartais (5–29%)
Bladder diverticulum	Kartais (5–29%)
Frequent urinary tract infections	Kartais (5–29%)
Functional abnormality of male internal genitalia	Kartais (5–29%)
Increased calcium level in kidney	Kartais (5–29%)
Kidney stone	Kartais (5–29%)
Multiple kidney cysts	Kartais (5–29%)
Narrowing of the urethra	Kartais (5–29%)
Polycystic ovaries	Kartais (5–29%)
Small kidneys	Kartais (5–29%)
Underdeveloped penis	Kartais (5–29%)
Undescended testes	Kartais (5–29%)
Vesicoureteral reflux	Kartais (5–29%)

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Abdominal pain	Labai dažnai (80–99%)
Colonic diverticula	Dažnai (30–79%)
Constipation	Dažnai (30–79%)
Inguinal hernia	Dažnai (30–79%)
Nausea and vomiting	Dažnai (30–79%)
Abnormal connection between trachea and esophagus	Kartais (5–29%)
Abnormality of the mucous membrane layer of stomach	Kartais (5–29%)
Acid reflux	Kartais (5–29%)
Extra kidney	Kartais (5–29%)
Gallstones	Kartais (5–29%)
Malabsorption	Kartais (5–29%)
Rectum protrudes through anus	Kartais (5–29%)
Sore in the lining of gastrointestinal tract	Kartais (5–29%)
Umbilical hernia	Kartais (5–29%)

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Severe farsightedness	Labai dažnai (80–99%)
Cross-eyed	Dažnai (30–79%)
Nystagmus-induced head nodding	Dažnai (30–79%)
Visual impairment	Dažnai (30–79%)
Abnormality of tear production	Kartais (5–29%)
Absent/small iris	Kartais (5–29%)
Blue eyes	Kartais (5–29%)
Close sighted	Kartais (5–29%)
Clouding of the lens of the eye	Kartais (5–29%)
Corneal opacity	Kartais (5–29%)
Enlarged cornea	Kartais (5–29%)
Flat cornea	Kartais (5–29%)
Glaucoma	Kartais (5–29%)
Posterior embryotoxon	Kartais (5–29%)

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
Bunion	Dažnai (30–79%)
Curvature of little finger	Dažnai (30–79%)
Dropped arches	Dažnai (30–79%)
Knock knees	Dažnai (30–79%)
Abnormality of the ankle	Kartais (5–29%)
Dislocated kneecap	Kartais (5–29%)
Fused forearm bones	Kartais (5–29%)
Inward turned thumb	Kartais (5–29%)

Abnormality of the integument

Požymis	Kaip dažnai pasireiškia
Abnormal fingernails	Dažnai (30–79%)
Loose redundant skin	Dažnai (30–79%)
Spinal dimple	Dažnai (30–79%)
Underdeveloped toenails	Dažnai (30–79%)
Abnormal fingerprints	Kartais (5–29%)
port-wine stain	Kartais (5–29%)
Prematurely aged appearance	Kartais (5–29%)

Laboratory abnormality

Požymis	Kaip dažnai pasireiškia
High blood calcium levels	Labai dažnai (80–99%)
Elevated blood creatine phosphokinase	Dažnai (30–79%)
Elevated urine calcium levels	Dažnai (30–79%)
High urine protein levels	Dažnai (30–79%)
Abnormal circulating lipid concentration	Kartais (5–29%)
Noninsulin-dependent diabetes	Kartais (5–29%)

Abnormality of the ear

Požymis	Kaip dažnai pasireiškia
Ears rotated toward back of head	Labai dažnai (80–99%)
Large ears	Labai dažnai (80–99%)
Prominent ear	Labai dažnai (80–99%)
Chronic infections of the middle ear	Dažnai (30–79%)
Sensorineural hearing impairment	Dažnai (30–79%)

Abnormality of the endocrine system

Požymis	Kaip dažnai pasireiškia
Early onset of puberty	Kartais (5–29%)
Hypogonadotropic hypogonadism	Kartais (5–29%)
Underactive thyroid	Kartais (5–29%)

Abnormality of the voice

Požymis	Kaip dažnai pasireiškia
Abnormality of the voice	Labai dažnai (80–99%)
Hoarse voice	Labai dažnai (80–99%)
Inability to produce voice sounds	Kartais (5–29%)

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Faltering weight in infancy	Labai dažnai (80–99%)
Short stature	Labai dažnai (80–99%)
Obesity	Dažnai (30–79%)

Abnormality of the immune system

Požymis	Kaip dažnai pasireiškia
Recurrent respiratory infections	Kartais (5–29%)

Constitutional symptom

Požymis	Kaip dažnai pasireiškia
Joint pain	Dažnai (30–79%)

Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.

Iš kur tai žinoma

Žmogaus fenotipo ontologija, 2026-09-01 leidimas: su VPS37D susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

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