Tunnused

Geeniga DNA2 seotud tunnused

DNA replication helicase/nuclease 2

Inimese fenotüübi ontoloogia seostab geeniga DNA2 94 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

Abnormality of the musculoskeletal system

Tunnus	Kui sageli seda täheldatakse
Delayed bone maturation	Alati
Flattened vertebrae	Alati
Abnormal formation of the hip	Sageli (30–79%)
Cone-shaped end part of bone	Sageli (30–79%)
Double-Jointed	Sageli (30–79%)
Generalized decreased muscle tone	Sageli (30–79%)
Gowers sign	Sageli (30–79%)
Kyphoscoliosis	Sageli (30–79%)
Mitochondrial myopathy	Sageli (30–79%)
Multiple joint contractures	Sageli (30–79%)
Muscle spasm	Sageli (30–79%)
Muscle tissue disease	Sageli (30–79%)
Osteopenia	Sageli (30–79%)
Prominent swayback	Sageli (30–79%)
Difficulty walking up stairs	Mõnikord (5–29%)
Diffuse skeletal muscle wasting	Mõnikord (5–29%)
Muscle weakness	Mõnikord (5–29%)
Scoliosis	Mõnikord (5–29%)

Abnormality of head or neck

Tunnus	Kui sageli seda täheldatakse
Abnormally small head	Alati
Beaked nose	Alati
Depressed nasal bridge	Alati
Frontal bossing	Alati
Little lower jaw	Alati
Sparse eyebrow	Alati
Sparse scalp hair	Alati
Deformity of the skull	Väga sageli (80–99%)
Narrow face	Väga sageli (80–99%)
Abnormal tooth enamel	Sageli (30–79%)
Decreased facial expression	Sageli (30–79%)
Decreased number of teeth	Sageli (30–79%)
Downward slanting of the opening between the eyelids	Sageli (30–79%)
Delayed eruption of teeth	Mõnikord (5–29%)
Empty sella turcica	Mõnikord (5–29%)

Abnormality of the eye

Tunnus	Kui sageli seda täheldatakse
Clouding of the lens of the eye	Alati
Decreased clarity of vision	Alati
Progressive external ophthalmoplegia	Alati
Abnormally small eyeball	Sageli (30–79%)
Congenital drooping upper eyelid	Sageli (30–79%)
Corneal opacity	Sageli (30–79%)
Deeply set eye	Sageli (30–79%)
Drooping upper eyelid	Sageli (30–79%)
Glaucoma	Sageli (30–79%)
Optic atrophy	Mõnikord (5–29%)
Peters anomaly	Mõnikord (5–29%)
Weakness of muscles controlling eye movement	Mõnikord (5–29%)

Abnormality of the nervous system

Tunnus	Kui sageli seda täheldatakse
Abnormal gait	Alati
Global developmental delay	Alati
Intellectual disability	Alati
Cognitive impairment	Väga sageli (80–99%)
Mild global developmental delay	Väga sageli (80–99%)
Depression	Sageli (30–79%)
Obstructive sleep apnea	Sageli (30–79%)
Pressure on spinal cord	Sageli (30–79%)
Falls	Mõnikord (5–29%)
Hippocampal malrotation	Mõnikord (5–29%)
Underdevelopment of part of brain called corpus callosum	Mõnikord (5–29%)
Ventriculomegaly	Mõnikord (5–29%)

Abnormality of limbs

Tunnus	Kui sageli seda täheldatakse
Flared wide portion of long bone	Alati
Shortened long bone of hand	Alati
Curvature of little finger	Väga sageli (80–99%)
Gap between 1st and 2nd toes	Väga sageli (80–99%)
Limb-girdle muscle weakness	Väga sageli (80–99%)
Pelvic girdle muscle weakness	Sageli (30–79%)
Short finger bones	Sageli (30–79%)
Weak shoulder muscles	Mõnikord (5–29%)

Growth abnormality

Tunnus	Kui sageli seda täheldatakse
Decreased body weight	Alati
Prenatal growth deficiency	Alati
Short stature	Alati
Small for gestational age	Väga sageli (80–99%)
Wasting syndrome	Väga sageli (80–99%)
Slender build	Sageli (30–79%)

Abnormality of the integument

Tunnus	Kui sageli seda täheldatakse
Photosensitive skin	Alati
Poikiloderma	Alati
Poor nail formation	Väga sageli (80–99%)
Prematurely aged appearance	Väga sageli (80–99%)
Abnormal blistering of the skin	Sageli (30–79%)

Abnormality of the endocrine system

Tunnus	Kui sageli seda täheldatakse
Decreased circulating insulin-like growth factor 1 concentration	Alati
Reduced circulating growth hormone concentration	Alati
Underactive thyroid	Väga sageli (80–99%)

Abnormality of the genitourinary system

Tunnus	Kui sageli seda täheldatakse
Short penis	Alati
Abnormal kidney location	Sageli (30–79%)
Undescended testes	Sageli (30–79%)

Abnormal cellular phenotype

Tunnus	Kui sageli seda täheldatakse
Multiple mitochondrial DNA deletions	Alati
Decreased mitochondrial number	Sageli (30–79%)

Abnormality of the ear

Tunnus	Kui sageli seda täheldatakse
Abnormal earlobe	Sageli (30–79%)
Absent earlobe	Sageli (30–79%)

Abnormality of the respiratory system

Tunnus	Kui sageli seda täheldatakse
Exertional breathlessness	Sageli (30–79%)
Breathing difficulty	Mõnikord (5–29%)

Constitutional symptom

Tunnus	Kui sageli seda täheldatakse
Muscle ache	Sageli (30–79%)
Decreased ability to exercise	Pole registreeritud

Laboratory abnormality

Tunnus	Kui sageli seda täheldatakse
Elevated creatine kinase after exercise	Sageli (30–79%)
Elevated blood creatine phosphokinase	Mõnikord (5–29%)

Abnormality of prenatal development or birth

Tunnus	Kui sageli seda täheldatakse
Less than 10 fetal movements in 12 hours	Sageli (30–79%)

Abnormality of the cardiovascular system

Tunnus	Kui sageli seda täheldatakse
Patent foramen ovale	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 DNA2 seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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