Tunnused

Geeniga VPS33A seotud tunnused

VPS33A core subunit of CORVET and HOPS complexes

Inimese fenotüübi ontoloogia seostab geeniga VPS33A 98 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

VPS33A

Abnormality of head or neck

Tunnus	Kui sageli seda täheldatakse
Corners of eye widely separated	Alati
Eye folds	Alati
Prominent forehead	Alati
Wide nose	Alati
Abnormally large tongue	Väga sageli (80–99%)
Coarse facial features	Väga sageli (80–99%)
Short neck	Väga sageli (80–99%)
Abnormally small head	Sageli (30–79%)
J-shaped sella turcica	Sageli (30–79%)
Large forehead	Sageli (30–79%)
Long eyelashes	Sageli (30–79%)
Low frontal hairline	Sageli (30–79%)
Low hairline at back of neck	Sageli (30–79%)
Monobrow	Sageli (30–79%)
Wide nasal bridge	Sageli (30–79%)
Full cheeks	Mõnikord (5–29%)
Full lips	Mõnikord (5–29%)
Fullness around the eyes	Mõnikord (5–29%)
Pink eye	Mõnikord (5–29%)
Short nose	Mõnikord (5–29%)

Abnormality of the musculoskeletal system

Tunnus	Kui sageli seda täheldatakse
Dysostosis multiplex	Alati
Flexed joint that cannot be straightened	Alati
Low muscle tone	Alati
Funnel chest	Sageli (30–79%)
Joint stiffness	Sageli (30–79%)
Pigeon chest	Sageli (30–79%)
Abnormal deposits of calcium in the brain	Mõnikord (5–29%)
Abnormal skeletal development	Mõnikord (5–29%)
Barrel-shaped chest	Mõnikord (5–29%)
Excessive inward curvature of lower spine	Mõnikord (5–29%)
Hernia	Mõnikord (5–29%)
Rounded lower back	Mõnikord (5–29%)
Thoracic kyphosis	Mõnikord (5–29%)
Flared iliac wing	Pole registreeritud

Abnormality of the cardiovascular system

Tunnus	Kui sageli seda täheldatakse
Cardiac failure	Väga sageli (80–99%)
Enlarged liver and spleen	Väga sageli (80–99%)
Increased spleen size	Väga sageli (80–99%)
Abnormality of the heart	Sageli (30–79%)
An opening in the wall separating the top two chambers of the heart	Sageli (30–79%)
Elevated heart rate	Sageli (30–79%)
Enlarged and thickened heart muscle	Sageli (30–79%)
Increased blood pressure in blood vessels of lungs	Sageli (30–79%)
Patent ductus arteriosus	Sageli (30–79%)
Mitral regurgitation	Mõnikord (5–29%)
Patent foramen ovale	Mõnikord (5–29%)
Tricuspid regurgitation	Mõnikord (5–29%)

Abnormality of the nervous system

Tunnus	Kui sageli seda täheldatakse
Absent speech development	Alati
Global developmental delay	Alati
Motor delay	Alati
Brain degeneration	Sageli (30–79%)
Decreased reflex response	Sageli (30–79%)
Delayed CNS myelination	Sageli (30–79%)
Inability to walk	Sageli (30–79%)
Brain imaging abnormality	Mõnikord (5–29%)
Delayed myelination	Mõnikord (5–29%)
Too much cerebrospinal fluid in the brain	Mõnikord (5–29%)

Abnormality of blood and blood-forming tissues

Tunnus	Kui sageli seda täheldatakse
Low number of red blood cells or hemoglobin	Alati
Low blood neutrophil count	Väga sageli (80–99%)
Low platelet count	Väga sageli (80–99%)
Bone marrow failure	Sageli (30–79%)
Decreased blood leukocyte number	Sageli (30–79%)
Abnormality of coagulation	Mõnikord (5–29%)

Laboratory abnormality

Tunnus	Kui sageli seda täheldatakse
High urine protein levels	Alati
Low albumin	Alati
Heparan sulfate excretion in urine	Sageli (30–79%)
Macrovesicular hepatic steatosis	Sageli (30–79%)
Urinary glycosaminoglycan excretion	Sageli (30–79%)
Severely high blood protein levels	Mõnikord (5–29%)

Abnormality of the genitourinary system

Tunnus	Kui sageli seda täheldatakse
Nephrotic syndrome	Väga sageli (80–99%)
Focal segmental glomerulosclerosis	Sageli (30–79%)
Kidney inflammation	Sageli (30–79%)
Renal tubular atrophy	Sageli (30–79%)
Enlarged kidney	Mõnikord (5–29%)

Abnormality of the integument

Tunnus	Kui sageli seda täheldatakse
Coarse hair	Sageli (30–79%)
Excessive hairiness	Sageli (30–79%)
Thickened skin	Sageli (30–79%)
Excessive hair growth	Mõnikord (5–29%)
Thick hair	Mõnikord (5–29%)

Abnormality of limbs

Tunnus	Kui sageli seda täheldatakse
Clubbing of fingers and toes	Sageli (30–79%)
Deep palm line	Mõnikord (5–29%)
Acetabular dysplasia	Pole registreeritud
Broad wide portion of long bone	Pole registreeritud

Abnormality of the eye

Tunnus	Kui sageli seda täheldatakse
Optic atrophy	Sageli (30–79%)
Abnormal retinal pigmentation	Mõnikord (5–29%)
Chorioretinal hypopigmentation	Mõnikord (5–29%)
Involuntary, rapid, rhythmic eye movements	Mõnikord (5–29%)

Abnormality of the immune system

Tunnus	Kui sageli seda täheldatakse
Recurrent infections in bronchi and lungs	Alati
Recurrent pneumonia	Alati
Recurrent respiratory infections	Alati
Infection in blood stream	Mõnikord (5–29%)

Abnormality of the respiratory system

Tunnus	Kui sageli seda täheldatakse
Breathing difficulties	Alati
Abnormality of the respiratory system	Väga sageli (80–99%)
Obstructive lung disease	Sageli (30–79%)
Noisy breathing	Mõnikord (5–29%)

Abnormal cellular phenotype

Tunnus	Kui sageli seda täheldatakse
Increased circulating IgM concentration	Väga sageli (80–99%)
Decreased circulating IgG concentration	Mõnikord (5–29%)

Abnormality of the digestive system

Tunnus	Kui sageli seda täheldatakse
Enlarged liver	Väga sageli (80–99%)
Recurrent gastroenteritis	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 VPS33A seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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