Tunnused

Geeniga RECQL4 seotud tunnused

RecQ like helicase 4

Inimese fenotüübi ontoloogia seostab geeniga RECQL4 211 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

RECQL4

Abnormality of head or neck

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

Abnormality of limbs

Tunnus	Kui sageli seda täheldatakse
Aplasia/Hypoplasia of the radius	Alati
Small hand	Alati
Absent fingers	Väga sageli (80–99%)
Absent/small kneecap	Väga sageli (80–99%)
Absent/small thumb	Väga sageli (80–99%)
Abnormal shape of long bones of hand	Sageli (30–79%)
Abnormal wrist bones	Sageli (30–79%)
Abnormality of limbs	Sageli (30–79%)
Absent thumb	Sageli (30–79%)
Bowing of the long bones	Sageli (30–79%)
Oligodactyly	Sageli (30–79%)
Underdeveloped outer large forearm bone	Sageli (30–79%)
Abnormal ulnar metaphysis morphology	Mõnikord (5–29%)
Abnormality of the radial head	Mõnikord (5–29%)
Absent kneecap	Mõnikord (5–29%)
Absent/small bones of the upper limbs	Mõnikord (5–29%)
Forearm undergrowth	Mõnikord (5–29%)
Fusion involving bones of the upper limbs	Mõnikord (5–29%)
Increased bone density in wide portion of long bone	Mõnikord (5–29%)
Metaphyseal striations	Mõnikord (5–29%)
Missing outer large bone of forearm	Mõnikord (5–29%)
Outward bow-leggedness	Mõnikord (5–29%)
Plantar hyperkeratosis	Mõnikord (5–29%)
Radial deviation of the hand	Mõnikord (5–29%)
Short finger bones	Mõnikord (5–29%)
Shortened long bone of hand	Mõnikord (5–29%)
Small kneecap	Mõnikord (5–29%)
Fused finger bones	Harva (1–4%)
Absent long bone of hand	Pole registreeritud
Absent wrist bone	Pole registreeritud
Aphalangy of the hands	Pole registreeritud
Club feet	Pole registreeritud
Curving of inner forearm bone	Pole registreeritud
Dislocated hip since birth	Pole registreeritud
Forearm reduction defects	Pole registreeritud
Fused wrist bones	Pole registreeritud
Limited elbow movement	Pole registreeritud
Short foot	Pole registreeritud
Short humerus	Pole registreeritud
Short palm	Pole registreeritud
Short thumb	Pole registreeritud
Underdeveloped inner large forearm bone	Pole registreeritud

Abnormality of the eye

Tunnus	Kui sageli seda täheldatakse
Abnormally small eyeball	Alati
Wide-set eyes	Alati
Bulging eye	Väga sageli (80–99%)
Abnormally close eyes	Mõnikord (5–29%)
Astigmatism	Mõnikord (5–29%)
Clouding of the lens of the eye at birth	Mõnikord (5–29%)
Involuntary, rapid, rhythmic eye movements	Mõnikord (5–29%)
Optic nerve hypoplasia	Mõnikord (5–29%)
Severe near sightedness	Mõnikord (5–29%)
Clouding of the lens of the eye	Harva (1–4%)
Juvenile cataract	Harva (1–4%)
Close sighted	Pole registreeritud
Cornea of eye less than 10mm in diameter	Pole registreeritud
Cross-eyed	Pole registreeritud
Glaucoma	Pole registreeritud
Optic atrophy	Pole registreeritud
Zonular cataract	Pole registreeritud

Abnormality of the integument

Tunnus	Kui sageli seda täheldatakse
Poikiloderma	Alati
Patchy darkened skin	Väga sageli (80–99%)
Patchy lightened skin	Väga sageli (80–99%)
Atypical nail growth	Sageli (30–79%)
Poor nail formation	Sageli (30–79%)
Skin degeneration	Sageli (30–79%)
Sparse hair	Sageli (30–79%)
Abnormal blistering of the skin	Mõnikord (5–29%)
Alopecia totalis	Mõnikord (5–29%)
Basal cell carcinoma	Mõnikord (5–29%)
Skin cancer	Mõnikord (5–29%)
Squamous cell carcinoma	Mõnikord (5–29%)
Porokeratosis	Harva (1–4%)
Hair loss	Pole registreeritud
Mottled skin coloring	Pole registreeritud
Photosensitive skin	Pole registreeritud
Premature graying of hair	Pole registreeritud

Abnormality of the musculoskeletal system

Tunnus	Kui sageli seda täheldatakse
Bone cell cancer	Sageli (30–79%)
Joint dislocation	Sageli (30–79%)
Multiple skeletal anomalies	Sageli (30–79%)
Abnormal trabecular bone morphology	Mõnikord (5–29%)
Delayed bone maturation	Mõnikord (5–29%)
Osteopenia	Mõnikord (5–29%)
Scoliosis	Mõnikord (5–29%)
Spontaneous fracture	Mõnikord (5–29%)
Calcium buildup in soft tissues of body	Harva (1–4%)
Abnormal vertebral morphology	Pole registreeritud
Kyphoscoliosis	Pole registreeritud
Limited shoulder movement	Pole registreeritud
Osteoporosis	Pole registreeritud
Rib fusion	Pole registreeritud
Stiff hinge joints	Pole registreeritud

Abnormality of the digestive system

Tunnus	Kui sageli seda täheldatakse
Diarrhea	Väga sageli (80–99%)
Feeding difficulties	Väga sageli (80–99%)
Anteriorly placed anus	Sageli (30–79%)
Malabsorption	Sageli (30–79%)
Absent anus	Mõnikord (5–29%)
Functional abnormality of the gastrointestinal tract	Mõnikord (5–29%)
Nasogastric tube feeding	Mõnikord (5–29%)
Vomiting	Mõnikord (5–29%)
Abnormal connection between rectum and vagina	Pole registreeritud
Annular pancreas	Pole registreeritud

Abnormality of the nervous system

Tunnus	Kui sageli seda täheldatakse
Intellectual disability	Sageli (30–79%)
Chiari malformation	Mõnikord (5–29%)
Intellectual disability, mild	Mõnikord (5–29%)
Motor delay	Mõnikord (5–29%)
Obstructive sleep apnea	Mõnikord (5–29%)
Too much cerebrospinal fluid in the brain	Mõnikord (5–29%)
Agenesis of corpus callosum	Pole registreeritud
Epilepsy	Pole registreeritud
More grooves in brain	Pole registreeritud
Spina bifida occulta	Pole registreeritud

Abnormality of the ear

Tunnus	Kui sageli seda täheldatakse
Prominent antihelix	Alati
Overfolded ears	Sageli (30–79%)
Underfolded helix	Sageli (30–79%)
Conductive deafness	Mõnikord (5–29%)
Mixed hearing impairment	Mõnikord (5–29%)
Ears rotated toward back of head	Pole registreeritud
Hearing impairment	Pole registreeritud
Low-set ears	Pole registreeritud

Abnormality of the genitourinary system

Tunnus	Kui sageli seda täheldatakse
Abnormal localisation of kidneys	Mõnikord (5–29%)
Abnormality of the ureter	Mõnikord (5–29%)
Hydronephrosis	Mõnikord (5–29%)
Undescended testes	Mõnikord (5–29%)
Urogenital fistula	Mõnikord (5–29%)
Vesicoureteral reflux	Mõnikord (5–29%)
Abnormality of the kidney	Pole registreeritud
Perineal fistula	Pole registreeritud

Growth abnormality

Tunnus	Kui sageli seda täheldatakse
Short stature	Alati
Faltering weight in infancy	Väga sageli (80–99%)
Growth delay	Väga sageli (80–99%)
Growth delay as children	Väga sageli (80–99%)
Prenatal growth deficiency	Väga sageli (80–99%)
Small for gestational age	Sageli (30–79%)
Severe prenatal growth deficiency	Mõnikord (5–29%)
Severe short stature	Mõnikord (5–29%)

Abnormality of blood and blood-forming tissues

Tunnus	Kui sageli seda täheldatakse
Cancer of lymphatic system	Mõnikord (5–29%)
Low blood neutrophil count	Mõnikord (5–29%)
Low number of red blood cells or hemoglobin	Mõnikord (5–29%)
Low T cell count	Mõnikord (5–29%)
Myelodysplasia	Mõnikord (5–29%)
Aplastic anemia	Harva (1–4%)
Blood cancer	Harva (1–4%)

Abnormality of the cardiovascular system

Tunnus	Kui sageli seda täheldatakse
Redness of skin or mucous membrane	Väga sageli (80–99%)
Blushed cheeks	Sageli (30–79%)
Abnormal cardiac septum morphology	Mõnikord (5–29%)
Abnormal cardiovascular system morphology	Pole registreeritud
Abnormality of the heart	Pole registreeritud
Anomalous splenoportal venous system	Pole registreeritud
Spider veins	Pole registreeritud

Abnormal cellular phenotype

Tunnus	Kui sageli seda täheldatakse
Decreased circulating antibody level	Mõnikord (5–29%)

Abnormal tissue mass

Tunnus	Kui sageli seda täheldatakse
Cancer of skin pigment cells	Harva (1–4%)

Abnormality of the endocrine system

Tunnus	Kui sageli seda täheldatakse
Decreased activity of gonads	Pole registreeritud

Abnormality of the immune system

Tunnus	Kui sageli seda täheldatakse
Abnormality of immune system physiology	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 RECQL4 seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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