Egenskaper

Egenskaper kopplade till VPS37D

VPS37D subunit of ESCRT-I

Human Phenotype Ontology kopplar 185 egenskaper till VPS37D, sorterade efter kroppssystem: drag som ses hos personer med ett av genens sällsynta tillstånd.

VPS37D

Abnormality of head or neck

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

Abnormality of the nervous system

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

Abnormality of the cardiovascular system

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

Abnormality of the musculoskeletal system

Egenskap	Hur ofta den förekommer
Abnormal shape of pelvic girdle bone	Mycket ofta (80–99 %)
Hunched back	Ofta (30–79 %)
Involuntary muscle stiffness, contraction, or spasm	Ofta (30–79 %)
Joint stiffness	Ofta (30–79 %)
Low muscle tone	Ofta (30–79 %)
Prominent swayback	Ofta (30–79 %)
Rounded shoulders	Ofta (30–79 %)
Abnormal vertebral body morphology	Ibland (5–29 %)
Delayed bone maturation	Ibland (5–29 %)
Double-Jointed	Ibland (5–29 %)
Funnel chest	Ibland (5–29 %)
Fusion of joints	Ibland (5–29 %)
Increased bone mineral density	Ibland (5–29 %)
Muscle tissue disease	Ibland (5–29 %)
Osteopenia	Ibland (5–29 %)
Osteoporosis	Ibland (5–29 %)
Scoliosis	Ibland (5–29 %)
Vertebral segmentation defect	Ibland (5–29 %)

Abnormality of the genitourinary system

Egenskap	Hur ofta den förekommer
Abnormality of the bladder	Ofta (30–79 %)
Pelvic kidney	Ofta (30–79 %)
Renal failure	Ofta (30–79 %)
Abnormal tubulointerstitial morphology	Ibland (5–29 %)
Bladder diverticulum	Ibland (5–29 %)
Frequent urinary tract infections	Ibland (5–29 %)
Functional abnormality of male internal genitalia	Ibland (5–29 %)
Increased calcium level in kidney	Ibland (5–29 %)
Kidney stone	Ibland (5–29 %)
Multiple kidney cysts	Ibland (5–29 %)
Narrowing of the urethra	Ibland (5–29 %)
Polycystic ovaries	Ibland (5–29 %)
Small kidneys	Ibland (5–29 %)
Underdeveloped penis	Ibland (5–29 %)
Undescended testes	Ibland (5–29 %)
Vesicoureteral reflux	Ibland (5–29 %)

Abnormality of the digestive system

Egenskap	Hur ofta den förekommer
Abdominal pain	Mycket ofta (80–99 %)
Colonic diverticula	Ofta (30–79 %)
Constipation	Ofta (30–79 %)
Inguinal hernia	Ofta (30–79 %)
Nausea and vomiting	Ofta (30–79 %)
Abnormal connection between trachea and esophagus	Ibland (5–29 %)
Abnormality of the mucous membrane layer of stomach	Ibland (5–29 %)
Acid reflux	Ibland (5–29 %)
Extra kidney	Ibland (5–29 %)
Gallstones	Ibland (5–29 %)
Malabsorption	Ibland (5–29 %)
Rectum protrudes through anus	Ibland (5–29 %)
Sore in the lining of gastrointestinal tract	Ibland (5–29 %)
Umbilical hernia	Ibland (5–29 %)

Abnormality of the eye

Egenskap	Hur ofta den förekommer
Severe farsightedness	Mycket ofta (80–99 %)
Cross-eyed	Ofta (30–79 %)
Nystagmus-induced head nodding	Ofta (30–79 %)
Visual impairment	Ofta (30–79 %)
Abnormality of tear production	Ibland (5–29 %)
Absent/small iris	Ibland (5–29 %)
Blue eyes	Ibland (5–29 %)
Close sighted	Ibland (5–29 %)
Clouding of the lens of the eye	Ibland (5–29 %)
Corneal opacity	Ibland (5–29 %)
Enlarged cornea	Ibland (5–29 %)
Flat cornea	Ibland (5–29 %)
Glaucoma	Ibland (5–29 %)
Posterior embryotoxon	Ibland (5–29 %)

Abnormality of limbs

Egenskap	Hur ofta den förekommer
Bunion	Ofta (30–79 %)
Curvature of little finger	Ofta (30–79 %)
Dropped arches	Ofta (30–79 %)
Knock knees	Ofta (30–79 %)
Abnormality of the ankle	Ibland (5–29 %)
Dislocated kneecap	Ibland (5–29 %)
Fused forearm bones	Ibland (5–29 %)
Inward turned thumb	Ibland (5–29 %)

Abnormality of the integument

Egenskap	Hur ofta den förekommer
Abnormal fingernails	Ofta (30–79 %)
Loose redundant skin	Ofta (30–79 %)
Spinal dimple	Ofta (30–79 %)
Underdeveloped toenails	Ofta (30–79 %)
Abnormal fingerprints	Ibland (5–29 %)
port-wine stain	Ibland (5–29 %)
Prematurely aged appearance	Ibland (5–29 %)

Laboratory abnormality

Egenskap	Hur ofta den förekommer
High blood calcium levels	Mycket ofta (80–99 %)
Elevated blood creatine phosphokinase	Ofta (30–79 %)
Elevated urine calcium levels	Ofta (30–79 %)
High urine protein levels	Ofta (30–79 %)
Abnormal circulating lipid concentration	Ibland (5–29 %)
Noninsulin-dependent diabetes	Ibland (5–29 %)

Abnormality of the ear

Egenskap	Hur ofta den förekommer
Ears rotated toward back of head	Mycket ofta (80–99 %)
Large ears	Mycket ofta (80–99 %)
Prominent ear	Mycket ofta (80–99 %)
Chronic infections of the middle ear	Ofta (30–79 %)
Sensorineural hearing impairment	Ofta (30–79 %)

Abnormality of the endocrine system

Egenskap	Hur ofta den förekommer
Early onset of puberty	Ibland (5–29 %)
Hypogonadotropic hypogonadism	Ibland (5–29 %)
Underactive thyroid	Ibland (5–29 %)

Abnormality of the voice

Egenskap	Hur ofta den förekommer
Abnormality of the voice	Mycket ofta (80–99 %)
Hoarse voice	Mycket ofta (80–99 %)
Inability to produce voice sounds	Ibland (5–29 %)

Growth abnormality

Egenskap	Hur ofta den förekommer
Faltering weight in infancy	Mycket ofta (80–99 %)
Short stature	Mycket ofta (80–99 %)
Obesity	Ofta (30–79 %)

Abnormality of the immune system

Egenskap	Hur ofta den förekommer
Recurrent respiratory infections	Ibland (5–29 %)

Constitutional symptom

Egenskap	Hur ofta den förekommer
Joint pain	Ofta (30–79 %)

Hur ofta det förekommer hos personer med ett av genens tillstånd, den vanligaste frekvensen bland dem, enligt Human Phenotype Ontology. Dessa sidor beskriver egenskaper och forskningen bakom dem. De är inte en diagnos, och det är läkare eller genetisk rådgivare du bör fråga om symtom.

Varifrån informationen kommer

Human Phenotype Ontology, version 2026-09-01: egenskaperna som kopplas till VPS37D och hur ofta varje egenskap ses. Läs mer på hpo.jax.org.

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