Požymiai

Su RECQL4 susiję požymiai

RecQ like helicase 4

Žmogaus fenotipo ontologija sieja 211 požymių su RECQL4, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.

RECQL4

Abnormality of head or neck

Požymis	Kaip dažnai pasireiškia
Decreased size of teeth	Visada
Delayed eruption of teeth	Visada
Depressed nasal bridge	Visada
Eye folds	Visada
High palate	Visada
Little lower jaw	Visada
Narrow eyelid opening	Visada
Sparse scalp hair	Visada
Broad head shape	Labai dažnai (80–99%)
Frontal bossing	Labai dažnai (80–99%)
High, prominent forehead	Labai dažnai (80–99%)
Wide fontanelles	Labai dažnai (80–99%)
Abnormal dentition	Dažnai (30–79%)
Absent eyebrow	Dažnai (30–79%)
Absent eyelashes	Dažnai (30–79%)
Cleft palate	Dažnai (30–79%)
Deformity of the skull	Dažnai (30–79%)
Narrow mouth	Dažnai (30–79%)
Short nose	Dažnai (30–79%)
Slender nose	Dažnai (30–79%)
Sparse eyebrow	Dažnai (30–79%)
Sparse eyelashes	Dažnai (30–79%)
Sparse or absent eyebrows	Dažnai (30–79%)
Sparse or absent eyelashes	Dažnai (30–79%)
Wider-than-typical soft spot of skull	Dažnai (30–79%)
Abnormal tooth enamel	Kartais (5–29%)
Absence of adult teeth	Kartais (5–29%)
Boxer's nasal deformity	Kartais (5–29%)
Broad forehead	Kartais (5–29%)
Coronal craniosynostosis	Kartais (5–29%)
Decreased number of teeth	Kartais (5–29%)
Decreased size of tooth	Kartais (5–29%)
Decreased volume of lip	Kartais (5–29%)
Dental cavities	Kartais (5–29%)
Facial puffiness	Kartais (5–29%)
Lambdoidal craniosynostosis	Kartais (5–29%)
Long nose	Kartais (5–29%)
Long upper lip	Kartais (5–29%)
Narrow face	Kartais (5–29%)
Narrow nasal bridge	Kartais (5–29%)
Oxycephaly	Kartais (5–29%)
Prominent forehead	Kartais (5–29%)
Prominent nasal bridge	Kartais (5–29%)
Tall shaped head	Kartais (5–29%)
Bicoronal synostosis	Neužfiksuota
Bifid uvula	Neužfiksuota
Big lower jaw	Neužfiksuota
Downward slanting of the opening between the eyelids	Neužfiksuota
Early closure of midline skull joint	Neužfiksuota
Extra teeth	Neužfiksuota
Flat forehead	Neužfiksuota
High, narrow palate	Neužfiksuota
Long face	Neužfiksuota
Midface capillary hemangioma	Neužfiksuota
Narrow opening between the eyelids	Neužfiksuota
Narrowing of the rear opening of the nasal cavity	Neužfiksuota
Short chin	Neužfiksuota
Underdeveloped tissue around nostril	Neužfiksuota

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
Aplasia/Hypoplasia of the radius	Visada
Small hand	Visada
Absent fingers	Labai dažnai (80–99%)
Absent/small kneecap	Labai dažnai (80–99%)
Absent/small thumb	Labai dažnai (80–99%)
Abnormal shape of long bones of hand	Dažnai (30–79%)
Abnormal wrist bones	Dažnai (30–79%)
Abnormality of limbs	Dažnai (30–79%)
Absent thumb	Dažnai (30–79%)
Bowing of the long bones	Dažnai (30–79%)
Oligodactyly	Dažnai (30–79%)
Underdeveloped outer large forearm bone	Dažnai (30–79%)
Abnormal ulnar metaphysis morphology	Kartais (5–29%)
Abnormality of the radial head	Kartais (5–29%)
Absent kneecap	Kartais (5–29%)
Absent/small bones of the upper limbs	Kartais (5–29%)
Forearm undergrowth	Kartais (5–29%)
Fusion involving bones of the upper limbs	Kartais (5–29%)
Increased bone density in wide portion of long bone	Kartais (5–29%)
Metaphyseal striations	Kartais (5–29%)
Missing outer large bone of forearm	Kartais (5–29%)
Outward bow-leggedness	Kartais (5–29%)
Plantar hyperkeratosis	Kartais (5–29%)
Radial deviation of the hand	Kartais (5–29%)
Short finger bones	Kartais (5–29%)
Shortened long bone of hand	Kartais (5–29%)
Small kneecap	Kartais (5–29%)
Fused finger bones	Retai (1–4 %)
Absent long bone of hand	Neužfiksuota
Absent wrist bone	Neužfiksuota
Aphalangy of the hands	Neužfiksuota
Club feet	Neužfiksuota
Curving of inner forearm bone	Neužfiksuota
Dislocated hip since birth	Neužfiksuota
Forearm reduction defects	Neužfiksuota
Fused wrist bones	Neužfiksuota
Limited elbow movement	Neužfiksuota
Short foot	Neužfiksuota
Short humerus	Neužfiksuota
Short palm	Neužfiksuota
Short thumb	Neužfiksuota
Underdeveloped inner large forearm bone	Neužfiksuota

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Abnormally small eyeball	Visada
Wide-set eyes	Visada
Bulging eye	Labai dažnai (80–99%)
Abnormally close eyes	Kartais (5–29%)
Astigmatism	Kartais (5–29%)
Clouding of the lens of the eye at birth	Kartais (5–29%)
Involuntary, rapid, rhythmic eye movements	Kartais (5–29%)
Optic nerve hypoplasia	Kartais (5–29%)
Severe near sightedness	Kartais (5–29%)
Clouding of the lens of the eye	Retai (1–4 %)
Juvenile cataract	Retai (1–4 %)
Close sighted	Neužfiksuota
Cornea of eye less than 10mm in diameter	Neužfiksuota
Cross-eyed	Neužfiksuota
Glaucoma	Neužfiksuota
Optic atrophy	Neužfiksuota
Zonular cataract	Neužfiksuota

Abnormality of the integument

Požymis	Kaip dažnai pasireiškia
Poikiloderma	Visada
Patchy darkened skin	Labai dažnai (80–99%)
Patchy lightened skin	Labai dažnai (80–99%)
Atypical nail growth	Dažnai (30–79%)
Poor nail formation	Dažnai (30–79%)
Skin degeneration	Dažnai (30–79%)
Sparse hair	Dažnai (30–79%)
Abnormal blistering of the skin	Kartais (5–29%)
Alopecia totalis	Kartais (5–29%)
Basal cell carcinoma	Kartais (5–29%)
Skin cancer	Kartais (5–29%)
Squamous cell carcinoma	Kartais (5–29%)
Porokeratosis	Retai (1–4 %)
Hair loss	Neužfiksuota
Mottled skin coloring	Neužfiksuota
Photosensitive skin	Neužfiksuota
Premature graying of hair	Neužfiksuota

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
Bone cell cancer	Dažnai (30–79%)
Joint dislocation	Dažnai (30–79%)
Multiple skeletal anomalies	Dažnai (30–79%)
Abnormal trabecular bone morphology	Kartais (5–29%)
Delayed bone maturation	Kartais (5–29%)
Osteopenia	Kartais (5–29%)
Scoliosis	Kartais (5–29%)
Spontaneous fracture	Kartais (5–29%)
Calcium buildup in soft tissues of body	Retai (1–4 %)
Abnormal vertebral morphology	Neužfiksuota
Kyphoscoliosis	Neužfiksuota
Limited shoulder movement	Neužfiksuota
Osteoporosis	Neužfiksuota
Rib fusion	Neužfiksuota
Stiff hinge joints	Neužfiksuota

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Diarrhea	Labai dažnai (80–99%)
Feeding difficulties	Labai dažnai (80–99%)
Anteriorly placed anus	Dažnai (30–79%)
Malabsorption	Dažnai (30–79%)
Absent anus	Kartais (5–29%)
Functional abnormality of the gastrointestinal tract	Kartais (5–29%)
Nasogastric tube feeding	Kartais (5–29%)
Vomiting	Kartais (5–29%)
Abnormal connection between rectum and vagina	Neužfiksuota
Annular pancreas	Neužfiksuota

Abnormality of the nervous system

Požymis	Kaip dažnai pasireiškia
Intellectual disability	Dažnai (30–79%)
Chiari malformation	Kartais (5–29%)
Intellectual disability, mild	Kartais (5–29%)
Motor delay	Kartais (5–29%)
Obstructive sleep apnea	Kartais (5–29%)
Too much cerebrospinal fluid in the brain	Kartais (5–29%)
Agenesis of corpus callosum	Neužfiksuota
Epilepsy	Neužfiksuota
More grooves in brain	Neužfiksuota
Spina bifida occulta	Neužfiksuota

Abnormality of the ear

Požymis	Kaip dažnai pasireiškia
Prominent antihelix	Visada
Overfolded ears	Dažnai (30–79%)
Underfolded helix	Dažnai (30–79%)
Conductive deafness	Kartais (5–29%)
Mixed hearing impairment	Kartais (5–29%)
Ears rotated toward back of head	Neužfiksuota
Hearing impairment	Neužfiksuota
Low-set ears	Neužfiksuota

Abnormality of the genitourinary system

Požymis	Kaip dažnai pasireiškia
Abnormal localisation of kidneys	Kartais (5–29%)
Abnormality of the ureter	Kartais (5–29%)
Hydronephrosis	Kartais (5–29%)
Undescended testes	Kartais (5–29%)
Urogenital fistula	Kartais (5–29%)
Vesicoureteral reflux	Kartais (5–29%)
Abnormality of the kidney	Neužfiksuota
Perineal fistula	Neužfiksuota

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Short stature	Visada
Faltering weight in infancy	Labai dažnai (80–99%)
Growth delay	Labai dažnai (80–99%)
Growth delay as children	Labai dažnai (80–99%)
Prenatal growth deficiency	Labai dažnai (80–99%)
Small for gestational age	Dažnai (30–79%)
Severe prenatal growth deficiency	Kartais (5–29%)
Severe short stature	Kartais (5–29%)

Abnormality of blood and blood-forming tissues

Požymis	Kaip dažnai pasireiškia
Cancer of lymphatic system	Kartais (5–29%)
Low blood neutrophil count	Kartais (5–29%)
Low number of red blood cells or hemoglobin	Kartais (5–29%)
Low T cell count	Kartais (5–29%)
Myelodysplasia	Kartais (5–29%)
Aplastic anemia	Retai (1–4 %)
Blood cancer	Retai (1–4 %)

Abnormality of the cardiovascular system

Požymis	Kaip dažnai pasireiškia
Redness of skin or mucous membrane	Labai dažnai (80–99%)
Blushed cheeks	Dažnai (30–79%)
Abnormal cardiac septum morphology	Kartais (5–29%)
Abnormal cardiovascular system morphology	Neužfiksuota
Abnormality of the heart	Neužfiksuota
Anomalous splenoportal venous system	Neužfiksuota
Spider veins	Neužfiksuota

Abnormal cellular phenotype

Požymis	Kaip dažnai pasireiškia
Decreased circulating antibody level	Kartais (5–29%)

Abnormal tissue mass

Požymis	Kaip dažnai pasireiškia
Cancer of skin pigment cells	Retai (1–4 %)

Abnormality of the endocrine system

Požymis	Kaip dažnai pasireiškia
Decreased activity of gonads	Neužfiksuota

Abnormality of the immune system

Požymis	Kaip dažnai pasireiškia
Abnormality of immune system physiology	Kartais (5–29%)

Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.

Iš kur tai žinoma

Žmogaus fenotipo ontologija, 2026-09-01 leidimas: su RECQL4 susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

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