Kjennetegn

Kjennetegn knyttet til VPS37D

VPS37D subunit of ESCRT-I

Human Phenotype Ontology knytter 185 kjennetegn til VPS37D, sortert etter kroppssystem: trekk som ses hos personer med en av genets sjeldne tilstander.

VPS37D

Abnormality of head or neck

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

Abnormality of the nervous system

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

Abnormality of the cardiovascular system

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

Abnormality of the musculoskeletal system

Kjennetegn	Hvor ofte den forekommer
Abnormal shape of pelvic girdle bone	Svært ofte (80–99 %)
Hunched back	Ofte (30–79 %)
Involuntary muscle stiffness, contraction, or spasm	Ofte (30–79 %)
Joint stiffness	Ofte (30–79 %)
Low muscle tone	Ofte (30–79 %)
Prominent swayback	Ofte (30–79 %)
Rounded shoulders	Ofte (30–79 %)
Abnormal vertebral body morphology	Noen ganger (5–29 %)
Delayed bone maturation	Noen ganger (5–29 %)
Double-Jointed	Noen ganger (5–29 %)
Funnel chest	Noen ganger (5–29 %)
Fusion of joints	Noen ganger (5–29 %)
Increased bone mineral density	Noen ganger (5–29 %)
Muscle tissue disease	Noen ganger (5–29 %)
Osteopenia	Noen ganger (5–29 %)
Osteoporosis	Noen ganger (5–29 %)
Scoliosis	Noen ganger (5–29 %)
Vertebral segmentation defect	Noen ganger (5–29 %)

Abnormality of the genitourinary system

Kjennetegn	Hvor ofte den forekommer
Abnormality of the bladder	Ofte (30–79 %)
Pelvic kidney	Ofte (30–79 %)
Renal failure	Ofte (30–79 %)
Abnormal tubulointerstitial morphology	Noen ganger (5–29 %)
Bladder diverticulum	Noen ganger (5–29 %)
Frequent urinary tract infections	Noen ganger (5–29 %)
Functional abnormality of male internal genitalia	Noen ganger (5–29 %)
Increased calcium level in kidney	Noen ganger (5–29 %)
Kidney stone	Noen ganger (5–29 %)
Multiple kidney cysts	Noen ganger (5–29 %)
Narrowing of the urethra	Noen ganger (5–29 %)
Polycystic ovaries	Noen ganger (5–29 %)
Small kidneys	Noen ganger (5–29 %)
Underdeveloped penis	Noen ganger (5–29 %)
Undescended testes	Noen ganger (5–29 %)
Vesicoureteral reflux	Noen ganger (5–29 %)

Abnormality of the digestive system

Kjennetegn	Hvor ofte den forekommer
Abdominal pain	Svært ofte (80–99 %)
Colonic diverticula	Ofte (30–79 %)
Constipation	Ofte (30–79 %)
Inguinal hernia	Ofte (30–79 %)
Nausea and vomiting	Ofte (30–79 %)
Abnormal connection between trachea and esophagus	Noen ganger (5–29 %)
Abnormality of the mucous membrane layer of stomach	Noen ganger (5–29 %)
Acid reflux	Noen ganger (5–29 %)
Extra kidney	Noen ganger (5–29 %)
Gallstones	Noen ganger (5–29 %)
Malabsorption	Noen ganger (5–29 %)
Rectum protrudes through anus	Noen ganger (5–29 %)
Sore in the lining of gastrointestinal tract	Noen ganger (5–29 %)
Umbilical hernia	Noen ganger (5–29 %)

Abnormality of the eye

Kjennetegn	Hvor ofte den forekommer
Severe farsightedness	Svært ofte (80–99 %)
Cross-eyed	Ofte (30–79 %)
Nystagmus-induced head nodding	Ofte (30–79 %)
Visual impairment	Ofte (30–79 %)
Abnormality of tear production	Noen ganger (5–29 %)
Absent/small iris	Noen ganger (5–29 %)
Blue eyes	Noen ganger (5–29 %)
Close sighted	Noen ganger (5–29 %)
Clouding of the lens of the eye	Noen ganger (5–29 %)
Corneal opacity	Noen ganger (5–29 %)
Enlarged cornea	Noen ganger (5–29 %)
Flat cornea	Noen ganger (5–29 %)
Glaucoma	Noen ganger (5–29 %)
Posterior embryotoxon	Noen ganger (5–29 %)

Abnormality of limbs

Kjennetegn	Hvor ofte den forekommer
Bunion	Ofte (30–79 %)
Curvature of little finger	Ofte (30–79 %)
Dropped arches	Ofte (30–79 %)
Knock knees	Ofte (30–79 %)
Abnormality of the ankle	Noen ganger (5–29 %)
Dislocated kneecap	Noen ganger (5–29 %)
Fused forearm bones	Noen ganger (5–29 %)
Inward turned thumb	Noen ganger (5–29 %)

Abnormality of the integument

Kjennetegn	Hvor ofte den forekommer
Abnormal fingernails	Ofte (30–79 %)
Loose redundant skin	Ofte (30–79 %)
Spinal dimple	Ofte (30–79 %)
Underdeveloped toenails	Ofte (30–79 %)
Abnormal fingerprints	Noen ganger (5–29 %)
port-wine stain	Noen ganger (5–29 %)
Prematurely aged appearance	Noen ganger (5–29 %)

Laboratory abnormality

Kjennetegn	Hvor ofte den forekommer
High blood calcium levels	Svært ofte (80–99 %)
Elevated blood creatine phosphokinase	Ofte (30–79 %)
Elevated urine calcium levels	Ofte (30–79 %)
High urine protein levels	Ofte (30–79 %)
Abnormal circulating lipid concentration	Noen ganger (5–29 %)
Noninsulin-dependent diabetes	Noen ganger (5–29 %)

Abnormality of the ear

Kjennetegn	Hvor ofte den forekommer
Ears rotated toward back of head	Svært ofte (80–99 %)
Large ears	Svært ofte (80–99 %)
Prominent ear	Svært ofte (80–99 %)
Chronic infections of the middle ear	Ofte (30–79 %)
Sensorineural hearing impairment	Ofte (30–79 %)

Abnormality of the endocrine system

Kjennetegn	Hvor ofte den forekommer
Early onset of puberty	Noen ganger (5–29 %)
Hypogonadotropic hypogonadism	Noen ganger (5–29 %)
Underactive thyroid	Noen ganger (5–29 %)

Abnormality of the voice

Kjennetegn	Hvor ofte den forekommer
Abnormality of the voice	Svært ofte (80–99 %)
Hoarse voice	Svært ofte (80–99 %)
Inability to produce voice sounds	Noen ganger (5–29 %)

Growth abnormality

Kjennetegn	Hvor ofte den forekommer
Faltering weight in infancy	Svært ofte (80–99 %)
Short stature	Svært ofte (80–99 %)
Obesity	Ofte (30–79 %)

Abnormality of the immune system

Kjennetegn	Hvor ofte den forekommer
Recurrent respiratory infections	Noen ganger (5–29 %)

Constitutional symptom

Kjennetegn	Hvor ofte den forekommer
Joint pain	Ofte (30–79 %)

Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.

Slik er informasjonen samlet

Human Phenotype Ontology, versjon 2026-09-01: kjennetegnene knyttet til VPS37D og hvor ofte hvert enn observeres. Finn ut mer på hpo.jax.org.

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