Trăsături

Trăsături asociate cu VPS33A

VPS33A core subunit of CORVET and HOPS complexes

Human Phenotype Ontology asociază 98 trăsături cu VPS33A, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

VPS33A

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Corners of eye widely separated	Întotdeauna
Eye folds	Întotdeauna
Prominent forehead	Întotdeauna
Wide nose	Întotdeauna
Abnormally large tongue	Foarte des (80–99%)
Coarse facial features	Foarte des (80–99%)
Short neck	Foarte des (80–99%)
Abnormally small head	Des (30–79%)
J-shaped sella turcica	Des (30–79%)
Large forehead	Des (30–79%)
Long eyelashes	Des (30–79%)
Low frontal hairline	Des (30–79%)
Low hairline at back of neck	Des (30–79%)
Monobrow	Des (30–79%)
Wide nasal bridge	Des (30–79%)
Full cheeks	Uneori (5–29%)
Full lips	Uneori (5–29%)
Fullness around the eyes	Uneori (5–29%)
Pink eye	Uneori (5–29%)
Short nose	Uneori (5–29%)

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Dysostosis multiplex	Întotdeauna
Flexed joint that cannot be straightened	Întotdeauna
Low muscle tone	Întotdeauna
Funnel chest	Des (30–79%)
Joint stiffness	Des (30–79%)
Pigeon chest	Des (30–79%)
Abnormal deposits of calcium in the brain	Uneori (5–29%)
Abnormal skeletal development	Uneori (5–29%)
Barrel-shaped chest	Uneori (5–29%)
Excessive inward curvature of lower spine	Uneori (5–29%)
Hernia	Uneori (5–29%)
Rounded lower back	Uneori (5–29%)
Thoracic kyphosis	Uneori (5–29%)
Flared iliac wing	Neînregistrat

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Cardiac failure	Foarte des (80–99%)
Enlarged liver and spleen	Foarte des (80–99%)
Increased spleen size	Foarte des (80–99%)
Abnormality of the heart	Des (30–79%)
An opening in the wall separating the top two chambers of the heart	Des (30–79%)
Elevated heart rate	Des (30–79%)
Enlarged and thickened heart muscle	Des (30–79%)
Increased blood pressure in blood vessels of lungs	Des (30–79%)
Patent ductus arteriosus	Des (30–79%)
Mitral regurgitation	Uneori (5–29%)
Patent foramen ovale	Uneori (5–29%)
Tricuspid regurgitation	Uneori (5–29%)

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Absent speech development	Întotdeauna
Global developmental delay	Întotdeauna
Motor delay	Întotdeauna
Brain degeneration	Des (30–79%)
Decreased reflex response	Des (30–79%)
Delayed CNS myelination	Des (30–79%)
Inability to walk	Des (30–79%)
Brain imaging abnormality	Uneori (5–29%)
Delayed myelination	Uneori (5–29%)
Too much cerebrospinal fluid in the brain	Uneori (5–29%)

Abnormality of blood and blood-forming tissues

Trăsătură	Cât de frecvent apare
Low number of red blood cells or hemoglobin	Întotdeauna
Low blood neutrophil count	Foarte des (80–99%)
Low platelet count	Foarte des (80–99%)
Bone marrow failure	Des (30–79%)
Decreased blood leukocyte number	Des (30–79%)
Abnormality of coagulation	Uneori (5–29%)

Laboratory abnormality

Trăsătură	Cât de frecvent apare
High urine protein levels	Întotdeauna
Low albumin	Întotdeauna
Heparan sulfate excretion in urine	Des (30–79%)
Macrovesicular hepatic steatosis	Des (30–79%)
Urinary glycosaminoglycan excretion	Des (30–79%)
Severely high blood protein levels	Uneori (5–29%)

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Nephrotic syndrome	Foarte des (80–99%)
Focal segmental glomerulosclerosis	Des (30–79%)
Kidney inflammation	Des (30–79%)
Renal tubular atrophy	Des (30–79%)
Enlarged kidney	Uneori (5–29%)

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Coarse hair	Des (30–79%)
Excessive hairiness	Des (30–79%)
Thickened skin	Des (30–79%)
Excessive hair growth	Uneori (5–29%)
Thick hair	Uneori (5–29%)

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Clubbing of fingers and toes	Des (30–79%)
Deep palm line	Uneori (5–29%)
Acetabular dysplasia	Neînregistrat
Broad wide portion of long bone	Neînregistrat

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Optic atrophy	Des (30–79%)
Abnormal retinal pigmentation	Uneori (5–29%)
Chorioretinal hypopigmentation	Uneori (5–29%)
Involuntary, rapid, rhythmic eye movements	Uneori (5–29%)

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Recurrent infections in bronchi and lungs	Întotdeauna
Recurrent pneumonia	Întotdeauna
Recurrent respiratory infections	Întotdeauna
Infection in blood stream	Uneori (5–29%)

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Breathing difficulties	Întotdeauna
Abnormality of the respiratory system	Foarte des (80–99%)
Obstructive lung disease	Des (30–79%)
Noisy breathing	Uneori (5–29%)

Abnormal cellular phenotype

Trăsătură	Cât de frecvent apare
Increased circulating IgM concentration	Foarte des (80–99%)
Decreased circulating IgG concentration	Uneori (5–29%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Enlarged liver	Foarte des (80–99%)
Recurrent gastroenteritis	Des (30–79%)

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

Human Phenotype Ontology, versiunea 2026-09-01: trăsăturile asociate cu VPS33A și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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