Tunnused

Geeniga TINF2 seotud tunnused

TERF1 interacting nuclear factor 2

Inimese fenotüübi ontoloogia seostab geeniga TINF2 128 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

TINF2

Abnormality of the integument

Tunnus	Kui sageli seda täheldatakse
Fine, reticulate skin pigmentation	Alati
Poor nail formation	Alati
Abnormal blistering of the skin	Väga sageli (80–99%)
Abnormal fingernails	Väga sageli (80–99%)
Atypical nail growth	Väga sageli (80–99%)
Flat, discolored area of skin	Väga sageli (80–99%)
Hyperpigmented skin patches	Väga sageli (80–99%)
Reticular hyperpigmentation	Väga sageli (80–99%)
Skin degeneration	Väga sageli (80–99%)
Absent/small skin	Sageli (30–79%)
Absent/small toenails	Sageli (30–79%)
Excessive sweating	Sageli (30–79%)
Excessive wrinkled skin	Sageli (30–79%)
Generalized hyperpigmentation	Sageli (30–79%)
Generalized hypopigmentation of hair	Sageli (30–79%)
Open skin sore	Sageli (30–79%)
Patchy loss of skin color	Sageli (30–79%)
Premature graying of hair	Sageli (30–79%)
Reticulated skin pigmentation	Sageli (30–79%)
Sparse hair	Sageli (30–79%)
Hair loss	Mõnikord (5–29%)
Skin vesicle	Mõnikord (5–29%)
White hair	Mõnikord (5–29%)
Dry skin	Pole registreeritud
Fine hair	Pole registreeritud
Grooved nails	Pole registreeritud
Nail pits	Pole registreeritud
Ridged fingernail	Pole registreeritud
Squamous cell carcinoma of the skin	Pole registreeritud

Abnormality of blood and blood-forming tissues

Tunnus	Kui sageli seda täheldatakse
Aplastic anemia	Alati
Bone marrow failure	Alati
Decreased blood leukocyte number	Alati
Low blood cell count	Alati
Low blood neutrophil count	Alati
Macrocytic anemia	Alati
Abnormality of neutrophils	Väga sageli (80–99%)
Increased mean corpuscular volume	Väga sageli (80–99%)
Low number of red blood cells or hemoglobin	Väga sageli (80–99%)
Low platelet count	Väga sageli (80–99%)
Abnormality of coagulation	Sageli (30–79%)
Gastrointestinal bleeding	Sageli (30–79%)
Abnormal leukocyte morphology	Mõnikord (5–29%)
Cancer of lymphatic system	Mõnikord (5–29%)
Decreased blood lymphocyte number	Pole registreeritud
Myelodysplasia	Pole registreeritud

Abnormality of the nervous system

Tunnus	Kui sageli seda täheldatakse
Global developmental delay	Alati
Incoordination	Alati
Small cerebellum	Alati
Wide based walk	Alati
Intellectual disability	Väga sageli (80–99%)
Decrease in size of the outer layer of the brain due to loss of brain cells	Sageli (30–79%)
Neurodevelopmental delay	Sageli (30–79%)
Ventriculomegaly	Sageli (30–79%)
Ataxia	Mõnikord (5–29%)
Decreased reflex response	Mõnikord (5–29%)
Epilepsy	Mõnikord (5–29%)
Delayed speech and language development	Pole registreeritud
Specific learning disability	Pole registreeritud
Worsening neurological symptoms	Pole registreeritud

Abnormality of head or neck

Tunnus	Kui sageli seda täheldatakse
Abnormally small head	Alati
Oral white patch	Alati
Abnormal dentition	Sageli (30–79%)
Dental cavities	Sageli (30–79%)
Failure of development of between one and six teeth	Sageli (30–79%)
Gum disease	Sageli (30–79%)
Sparse scalp hair	Sageli (30–79%)
Taurodontia	Sageli (30–79%)
Abnormal eyelashes	Mõnikord (5–29%)
Abnormality of the eyebrow	Mõnikord (5–29%)
Decreased size of maxilla	Mõnikord (5–29%)
Inflammation of eyelids	Mõnikord (5–29%)
Early tooth loss	Pole registreeritud

Abnormality of the digestive system

Tunnus	Kui sageli seda täheldatakse
Abnormal connection between trachea and esophagus	Sageli (30–79%)
Anorectal anomaly	Sageli (30–79%)
Malabsorption	Sageli (30–79%)
Narrowing of esophagus due to inflammation and scar tissue	Sageli (30–79%)
Narrowing of the esophagus	Sageli (30–79%)
Cancer of the pancreas	Mõnikord (5–29%)
Enlarged liver	Mõnikord (5–29%)
Hepatic necrosis	Mõnikord (5–29%)
Liver failure	Mõnikord (5–29%)
Scar tissue replaces healthy tissue in the liver	Mõnikord (5–29%)

Abnormality of the eye

Tunnus	Kui sageli seda täheldatakse
Serous retinal detachment	Alati
Visual loss	Alati
Increased tears	Sageli (30–79%)
Retinal detachment	Sageli (30–79%)
Clouding of the lens of the eye	Mõnikord (5–29%)
Enlarged cornea	Pole registreeritud
Involuntary, rapid, rhythmic eye movements	Pole registreeritud
Leukocoria	Pole registreeritud

Abnormality of the musculoskeletal system

Tunnus	Kui sageli seda täheldatakse
Intracranial calcification	Väga sageli (80–99%)
Osteopenia	Sageli (30–79%)
Recurrent fractures	Sageli (30–79%)
Spasticity and rigidity of muscles	Sageli (30–79%)
Abnormal deposits of calcium in the brain	Mõnikord (5–29%)
Death of bone due to decreased blood supply	Mõnikord (5–29%)
Osteoporosis	Mõnikord (5–29%)
Scoliosis	Mõnikord (5–29%)

Abnormality of the genitourinary system

Tunnus	Kui sageli seda täheldatakse
Abnormal morphology of female internal genitalia	Sageli (30–79%)
Narrowing of the urethra	Sageli (30–79%)
Abnormality of the testis	Mõnikord (5–29%)
Displacement of the urethral meatus	Mõnikord (5–29%)
Urethral stricture	Mõnikord (5–29%)
Undescended testes	Pole registreeritud

Abnormality of the respiratory system

Tunnus	Kui sageli seda täheldatakse
Abnormality in area between air sacs in lung	Sageli (30–79%)
Abnormality of the pharynx	Sageli (30–79%)
Decreased DLCO	Sageli (30–79%)
Breathing difficulty	Mõnikord (5–29%)
Interstitial pneumonitis	Mõnikord (5–29%)
Pulmonary scarring	Mõnikord (5–29%)

Growth abnormality

Tunnus	Kui sageli seda täheldatakse
Faltering weight	Väga sageli (80–99%)
Prenatal growth deficiency	Väga sageli (80–99%)
Short stature	Väga sageli (80–99%)
Growth delay	Sageli (30–79%)
Faltering weight in infancy	Mõnikord (5–29%)

Abnormality of limbs

Tunnus	Kui sageli seda täheldatakse
Coarse metaphyseal trabecularization	Sageli (30–79%)
Avascular necrosis of the capital femoral epiphysis	Mõnikord (5–29%)
Thickening of palms and soles	Mõnikord (5–29%)

Abnormality of the cardiovascular system

Tunnus	Kui sageli seda täheldatakse
Telangiectasia of the skin	Sageli (30–79%)
Budd-Chiari syndrome	Mõnikord (5–29%)
Increased spleen size	Mõnikord (5–29%)

Abnormality of the immune system

Tunnus	Kui sageli seda täheldatakse
Decreased immune function	Väga sageli (80–99%)
Cellular immunodeficiency	Sageli (30–79%)
Recurrent respiratory infections	Sageli (30–79%)

Abnormal cellular phenotype

Tunnus	Kui sageli seda täheldatakse
Short telomere length	Alati

Abnormal tissue mass

Tunnus	Kui sageli seda täheldatakse
Abnormal tissue mass	Sageli (30–79%)

Abnormality of the ear

Tunnus	Kui sageli seda täheldatakse
Hearing impairment	Mõnikord (5–29%)

Laboratory abnormality

Tunnus	Kui sageli seda täheldatakse
Diabetes mellitus	Mõnikord (5–29%)

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 TINF2 seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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