Kenmerken

Kenmerken gekoppeld aan VPS37D

VPS37D subunit of ESCRT-I

De Human Phenotype Ontology koppelt 185 kenmerken aan VPS37D, per lichaamssysteem: kenmerken die worden gezien bij mensen met een van de zeldzame aandoeningen van dit gen.

Abnormality of head or neck

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

Abnormality of the nervous system

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

Abnormality of the cardiovascular system

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

Abnormality of the musculoskeletal system

Kenmerk	Hoe vaak het voorkomt
Abnormal shape of pelvic girdle bone	Heel vaak (80–99%)
Hunched back	Vaak (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Vaak (30–79%)
Joint stiffness	Vaak (30–79%)
Low muscle tone	Vaak (30–79%)
Prominent swayback	Vaak (30–79%)
Rounded shoulders	Vaak (30–79%)
Abnormal vertebral body morphology	Soms (5–29%)
Delayed bone maturation	Soms (5–29%)
Double-Jointed	Soms (5–29%)
Funnel chest	Soms (5–29%)
Fusion of joints	Soms (5–29%)
Increased bone mineral density	Soms (5–29%)
Muscle tissue disease	Soms (5–29%)
Osteopenia	Soms (5–29%)
Osteoporosis	Soms (5–29%)
Scoliosis	Soms (5–29%)
Vertebral segmentation defect	Soms (5–29%)

Abnormality of the genitourinary system

Kenmerk	Hoe vaak het voorkomt
Abnormality of the bladder	Vaak (30–79%)
Pelvic kidney	Vaak (30–79%)
Renal failure	Vaak (30–79%)
Abnormal tubulointerstitial morphology	Soms (5–29%)
Bladder diverticulum	Soms (5–29%)
Frequent urinary tract infections	Soms (5–29%)
Functional abnormality of male internal genitalia	Soms (5–29%)
Increased calcium level in kidney	Soms (5–29%)
Kidney stone	Soms (5–29%)
Multiple kidney cysts	Soms (5–29%)
Narrowing of the urethra	Soms (5–29%)
Polycystic ovaries	Soms (5–29%)
Small kidneys	Soms (5–29%)
Underdeveloped penis	Soms (5–29%)
Undescended testes	Soms (5–29%)
Vesicoureteral reflux	Soms (5–29%)

Abnormality of the digestive system

Kenmerk	Hoe vaak het voorkomt
Abdominal pain	Heel vaak (80–99%)
Colonic diverticula	Vaak (30–79%)
Constipation	Vaak (30–79%)
Inguinal hernia	Vaak (30–79%)
Nausea and vomiting	Vaak (30–79%)
Abnormal connection between trachea and esophagus	Soms (5–29%)
Abnormality of the mucous membrane layer of stomach	Soms (5–29%)
Acid reflux	Soms (5–29%)
Extra kidney	Soms (5–29%)
Gallstones	Soms (5–29%)
Malabsorption	Soms (5–29%)
Rectum protrudes through anus	Soms (5–29%)
Sore in the lining of gastrointestinal tract	Soms (5–29%)
Umbilical hernia	Soms (5–29%)

Abnormality of the eye

Kenmerk	Hoe vaak het voorkomt
Severe farsightedness	Heel vaak (80–99%)
Cross-eyed	Vaak (30–79%)
Nystagmus-induced head nodding	Vaak (30–79%)
Visual impairment	Vaak (30–79%)
Abnormality of tear production	Soms (5–29%)
Absent/small iris	Soms (5–29%)
Blue eyes	Soms (5–29%)
Close sighted	Soms (5–29%)
Clouding of the lens of the eye	Soms (5–29%)
Corneal opacity	Soms (5–29%)
Enlarged cornea	Soms (5–29%)
Flat cornea	Soms (5–29%)
Glaucoma	Soms (5–29%)
Posterior embryotoxon	Soms (5–29%)

Abnormality of limbs

Kenmerk	Hoe vaak het voorkomt
Bunion	Vaak (30–79%)
Curvature of little finger	Vaak (30–79%)
Dropped arches	Vaak (30–79%)
Knock knees	Vaak (30–79%)
Abnormality of the ankle	Soms (5–29%)
Dislocated kneecap	Soms (5–29%)
Fused forearm bones	Soms (5–29%)
Inward turned thumb	Soms (5–29%)

Abnormality of the integument

Kenmerk	Hoe vaak het voorkomt
Abnormal fingernails	Vaak (30–79%)
Loose redundant skin	Vaak (30–79%)
Spinal dimple	Vaak (30–79%)
Underdeveloped toenails	Vaak (30–79%)
Abnormal fingerprints	Soms (5–29%)
port-wine stain	Soms (5–29%)
Prematurely aged appearance	Soms (5–29%)

Laboratory abnormality

Kenmerk	Hoe vaak het voorkomt
High blood calcium levels	Heel vaak (80–99%)
Elevated blood creatine phosphokinase	Vaak (30–79%)
Elevated urine calcium levels	Vaak (30–79%)
High urine protein levels	Vaak (30–79%)
Abnormal circulating lipid concentration	Soms (5–29%)
Noninsulin-dependent diabetes	Soms (5–29%)

Abnormality of the ear

Kenmerk	Hoe vaak het voorkomt
Ears rotated toward back of head	Heel vaak (80–99%)
Large ears	Heel vaak (80–99%)
Prominent ear	Heel vaak (80–99%)
Chronic infections of the middle ear	Vaak (30–79%)
Sensorineural hearing impairment	Vaak (30–79%)

Abnormality of the endocrine system

Kenmerk	Hoe vaak het voorkomt
Early onset of puberty	Soms (5–29%)
Hypogonadotropic hypogonadism	Soms (5–29%)
Underactive thyroid	Soms (5–29%)

Abnormality of the voice

Kenmerk	Hoe vaak het voorkomt
Abnormality of the voice	Heel vaak (80–99%)
Hoarse voice	Heel vaak (80–99%)
Inability to produce voice sounds	Soms (5–29%)

Growth abnormality

Kenmerk	Hoe vaak het voorkomt
Faltering weight in infancy	Heel vaak (80–99%)
Short stature	Heel vaak (80–99%)
Obesity	Vaak (30–79%)

Abnormality of the immune system

Kenmerk	Hoe vaak het voorkomt
Recurrent respiratory infections	Soms (5–29%)

Constitutional symptom

Kenmerk	Hoe vaak het voorkomt
Joint pain	Vaak (30–79%)

Hoe vaak dit voorkomt bij mensen met een van de aandoeningen van het gen, de hoogste frequentie binnen die aandoeningen, zoals de Human Phenotype Ontology dit vastlegt. Deze pagina's beschrijven kenmerken en het onderzoek erachter; het zijn geen diagnose, en over symptomen kunt u het best een arts of genetisch adviseur raadplegen.

Waar dit vandaan komt

De Human Phenotype Ontology, versie 2026-09-01: de aan VPS37D gekoppelde kenmerken en hoe vaak elk voorkomt. Meer informatie vindt u op hpo.jax.org.

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