Tunnused

Geeniga VPS37D seotud tunnused

VPS37D subunit of ESCRT-I

Inimese fenotüübi ontoloogia seostab geeniga VPS37D 185 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

VPS37D

Abnormality of head or neck

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

Abnormality of the nervous system

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

Abnormality of the cardiovascular system

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

Abnormality of the musculoskeletal system

Tunnus	Kui sageli seda täheldatakse
Abnormal shape of pelvic girdle bone	Väga sageli (80–99%)
Hunched back	Sageli (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Sageli (30–79%)
Joint stiffness	Sageli (30–79%)
Low muscle tone	Sageli (30–79%)
Prominent swayback	Sageli (30–79%)
Rounded shoulders	Sageli (30–79%)
Abnormal vertebral body morphology	Mõnikord (5–29%)
Delayed bone maturation	Mõnikord (5–29%)
Double-Jointed	Mõnikord (5–29%)
Funnel chest	Mõnikord (5–29%)
Fusion of joints	Mõnikord (5–29%)
Increased bone mineral density	Mõnikord (5–29%)
Muscle tissue disease	Mõnikord (5–29%)
Osteopenia	Mõnikord (5–29%)
Osteoporosis	Mõnikord (5–29%)
Scoliosis	Mõnikord (5–29%)
Vertebral segmentation defect	Mõnikord (5–29%)

Abnormality of the genitourinary system

Tunnus	Kui sageli seda täheldatakse
Abnormality of the bladder	Sageli (30–79%)
Pelvic kidney	Sageli (30–79%)
Renal failure	Sageli (30–79%)
Abnormal tubulointerstitial morphology	Mõnikord (5–29%)
Bladder diverticulum	Mõnikord (5–29%)
Frequent urinary tract infections	Mõnikord (5–29%)
Functional abnormality of male internal genitalia	Mõnikord (5–29%)
Increased calcium level in kidney	Mõnikord (5–29%)
Kidney stone	Mõnikord (5–29%)
Multiple kidney cysts	Mõnikord (5–29%)
Narrowing of the urethra	Mõnikord (5–29%)
Polycystic ovaries	Mõnikord (5–29%)
Small kidneys	Mõnikord (5–29%)
Underdeveloped penis	Mõnikord (5–29%)
Undescended testes	Mõnikord (5–29%)
Vesicoureteral reflux	Mõnikord (5–29%)

Abnormality of the digestive system

Tunnus	Kui sageli seda täheldatakse
Abdominal pain	Väga sageli (80–99%)
Colonic diverticula	Sageli (30–79%)
Constipation	Sageli (30–79%)
Inguinal hernia	Sageli (30–79%)
Nausea and vomiting	Sageli (30–79%)
Abnormal connection between trachea and esophagus	Mõnikord (5–29%)
Abnormality of the mucous membrane layer of stomach	Mõnikord (5–29%)
Acid reflux	Mõnikord (5–29%)
Extra kidney	Mõnikord (5–29%)
Gallstones	Mõnikord (5–29%)
Malabsorption	Mõnikord (5–29%)
Rectum protrudes through anus	Mõnikord (5–29%)
Sore in the lining of gastrointestinal tract	Mõnikord (5–29%)
Umbilical hernia	Mõnikord (5–29%)

Abnormality of the eye

Tunnus	Kui sageli seda täheldatakse
Severe farsightedness	Väga sageli (80–99%)
Cross-eyed	Sageli (30–79%)
Nystagmus-induced head nodding	Sageli (30–79%)
Visual impairment	Sageli (30–79%)
Abnormality of tear production	Mõnikord (5–29%)
Absent/small iris	Mõnikord (5–29%)
Blue eyes	Mõnikord (5–29%)
Close sighted	Mõnikord (5–29%)
Clouding of the lens of the eye	Mõnikord (5–29%)
Corneal opacity	Mõnikord (5–29%)
Enlarged cornea	Mõnikord (5–29%)
Flat cornea	Mõnikord (5–29%)
Glaucoma	Mõnikord (5–29%)
Posterior embryotoxon	Mõnikord (5–29%)

Abnormality of limbs

Tunnus	Kui sageli seda täheldatakse
Bunion	Sageli (30–79%)
Curvature of little finger	Sageli (30–79%)
Dropped arches	Sageli (30–79%)
Knock knees	Sageli (30–79%)
Abnormality of the ankle	Mõnikord (5–29%)
Dislocated kneecap	Mõnikord (5–29%)
Fused forearm bones	Mõnikord (5–29%)
Inward turned thumb	Mõnikord (5–29%)

Abnormality of the integument

Tunnus	Kui sageli seda täheldatakse
Abnormal fingernails	Sageli (30–79%)
Loose redundant skin	Sageli (30–79%)
Spinal dimple	Sageli (30–79%)
Underdeveloped toenails	Sageli (30–79%)
Abnormal fingerprints	Mõnikord (5–29%)
port-wine stain	Mõnikord (5–29%)
Prematurely aged appearance	Mõnikord (5–29%)

Laboratory abnormality

Tunnus	Kui sageli seda täheldatakse
High blood calcium levels	Väga sageli (80–99%)
Elevated blood creatine phosphokinase	Sageli (30–79%)
Elevated urine calcium levels	Sageli (30–79%)
High urine protein levels	Sageli (30–79%)
Abnormal circulating lipid concentration	Mõnikord (5–29%)
Noninsulin-dependent diabetes	Mõnikord (5–29%)

Abnormality of the ear

Tunnus	Kui sageli seda täheldatakse
Ears rotated toward back of head	Väga sageli (80–99%)
Large ears	Väga sageli (80–99%)
Prominent ear	Väga sageli (80–99%)
Chronic infections of the middle ear	Sageli (30–79%)
Sensorineural hearing impairment	Sageli (30–79%)

Abnormality of the endocrine system

Tunnus	Kui sageli seda täheldatakse
Early onset of puberty	Mõnikord (5–29%)
Hypogonadotropic hypogonadism	Mõnikord (5–29%)
Underactive thyroid	Mõnikord (5–29%)

Abnormality of the voice

Tunnus	Kui sageli seda täheldatakse
Abnormality of the voice	Väga sageli (80–99%)
Hoarse voice	Väga sageli (80–99%)
Inability to produce voice sounds	Mõnikord (5–29%)

Growth abnormality

Tunnus	Kui sageli seda täheldatakse
Faltering weight in infancy	Väga sageli (80–99%)
Short stature	Väga sageli (80–99%)
Obesity	Sageli (30–79%)

Abnormality of the immune system

Tunnus	Kui sageli seda täheldatakse
Recurrent respiratory infections	Mõnikord (5–29%)

Constitutional symptom

Tunnus	Kui sageli seda täheldatakse
Joint pain	Sageli (30–79%)

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 VPS37D seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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