Tunnused

Geeniga CAV1 seotud tunnused

caveolin 1

Inimese fenotüübi ontoloogia seostab geeniga CAV1 95 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

CAV1

Abnormality of the integument

Tunnus	Kui sageli seda täheldatakse
Abnormal skin pigmentation	Väga sageli (80–99%)
Abnormality of the skin	Väga sageli (80–99%)
Patchy loss of skin color	Väga sageli (80–99%)
Darkened and thickened skin	Sageli (30–79%)
Dry skin	Sageli (30–79%)
Facial wrinkling	Sageli (30–79%)
Open skin sore	Sageli (30–79%)
Premature aged appearance	Sageli (30–79%)
Reduced fat tissue below the skin	Sageli (30–79%)
Sparse hair	Sageli (30–79%)
Thin skin	Sageli (30–79%)
Excessive hairiness	Pole registreeritud
Lack of facial fat below the skin	Pole registreeritud
Loss of fat around neck	Pole registreeritud

Abnormality of the cardiovascular system

Tunnus	Kui sageli seda täheldatakse
Cutis marmorata	Alati
Decrease in blood pressure upon standing up	Sageli (30–79%)
High blood pressure	Sageli (30–79%)
Increased blood pressure in blood vessels of lungs	Sageli (30–79%)
Mucosal telangiectasiae	Sageli (30–79%)
Pulmonary arteriovenous malformation	Sageli (30–79%)
Telangiectasia of the skin	Sageli (30–79%)
Cardiac failure	Mõnikord (5–29%)
Hypertensive crisis	Mõnikord (5–29%)
Enlarged liver and spleen	Pole registreeritud
increased pulmonary artery pressure	Pole registreeritud
Increased pulmonary vascular resistance	Pole registreeritud
Increased spleen size	Pole registreeritud

Abnormality of the digestive system

Tunnus	Kui sageli seda täheldatakse
Acid reflux	Väga sageli (80–99%)
Diarrhea	Sageli (30–79%)
Feeding difficulties	Sageli (30–79%)
Malabsorption	Sageli (30–79%)
Nausea and vomiting	Sageli (30–79%)
Poor swallowing	Sageli (30–79%)
Recurring pancreas inflammation	Sageli (30–79%)
Vomiting	Sageli (30–79%)
Abnormal bowel sounds	Mõnikord (5–29%)
Enlarged liver	Pole registreeritud

Laboratory abnormality

Tunnus	Kui sageli seda täheldatakse
Increased plasma triglycerides	Alati
Body fails to respond to insulin	Sageli (30–79%)
Elevated serum cholesterol	Sageli (30–79%)
Fluid around lungs	Sageli (30–79%)
Type 1 diabetes	Sageli (30–79%)
Diabetes mellitus	Pole registreeritud
Fatty infiltration of liver	Pole registreeritud
Glucose intolerance	Pole registreeritud
Impaired glucose tolerance	Pole registreeritud
Low blood calcium levels	Pole registreeritud

Abnormality of head or neck

Tunnus	Kui sageli seda täheldatakse
Triangular face	Alati
Decreased salivary flow	Sageli (30–79%)
Dental cavities	Sageli (30–79%)
Narrow mouth	Sageli (30–79%)
Narrow nasal ridge	Sageli (30–79%)
Short nose	Sageli (30–79%)
Sparse scalp hair	Sageli (30–79%)
Sunken cheeks	Sageli (30–79%)
Wide fontanelles	Sageli (30–79%)

Abnormality of the musculoskeletal system

Tunnus	Kui sageli seda täheldatakse
Inability to make and keep healthy fat tissue	Väga sageli (80–99%)
Narrow foramen obturatorium	Väga sageli (80–99%)
Arthritis	Sageli (30–79%)
Breakdown of bone	Sageli (30–79%)
Flexed joint that cannot be straightened	Sageli (30–79%)
Muscle weakness	Sageli (30–79%)
Absent fat below the skin	Pole registreeritud
Generalized lipodystrophy	Pole registreeritud
Loss of fat tissue below the skin in limbs	Pole registreeritud

Abnormality of the nervous system

Tunnus	Kui sageli seda täheldatakse
Babinski sign	Sageli (30–79%)
Decreased sensation in extremities	Sageli (30–79%)
Difficulty performing quick and alternating movements	Sageli (30–79%)
Clonus	Pole registreeritud
Inability to coordinate movements when walking	Pole registreeritud
Increased reflexes	Pole registreeritud
Lack of coordination of movement	Pole registreeritud

Abnormality of the genitourinary system

Tunnus	Kui sageli seda täheldatakse
Oliguria	Väga sageli (80–99%)
Dyspareunia	Sageli (30–79%)
Increased urine output	Sageli (30–79%)
Renal failure	Mõnikord (5–29%)
Primary amenorrhea	Pole registreeritud

Abnormality of the eye

Tunnus	Kui sageli seda täheldatakse
Clouding of the lens of the eye	Sageli (30–79%)
Clouding of the lens of the eye at birth	Sageli (30–79%)
Involuntary, rapid, rhythmic eye movements	Sageli (30–79%)
Pigmentary retinopathy	Sageli (30–79%)

Abnormality of the respiratory system

Tunnus	Kui sageli seda täheldatakse
Breathing difficulty	Väga sageli (80–99%)
Lung infiltrates	Väga sageli (80–99%)
Pulmonary scarring	Sageli (30–79%)
Spontaneous collapsed lung	Sageli (30–79%)

Abnormality of limbs

Tunnus	Kui sageli seda täheldatakse
Lower limb muscle weakness	Sageli (30–79%)
Contractures of the foot joints	Mõnikord (5–29%)
Joint contracture of the hand	Mõnikord (5–29%)

Growth abnormality

Tunnus	Kui sageli seda täheldatakse
Faltering weight	Sageli (30–79%)
Small for gestational age	Sageli (30–79%)
Short stature	Pole registreeritud

Abnormality of the ear

Tunnus	Kui sageli seda täheldatakse
Low-set ears	Sageli (30–79%)
Ringing in ears	Sageli (30–79%)

Abnormality of the immune system

Tunnus	Kui sageli seda täheldatakse
Autoimmunity	Väga sageli (80–99%)

Constitutional symptom

Tunnus	Kui sageli seda täheldatakse
Joint pain	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 CAV1 seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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