Požymiai

Su DVL1 susiję požymiai

dishevelled segment polarity protein 1

Žmogaus fenotipo ontologija sieja 142 požymių su DVL1, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.

Abnormality of head or neck

Požymis	Kaip dažnai pasireiškia
Big calvaria	Visada
Calvarial osteosclerosis	Visada
Depressed nasal bridge	Visada
Failure of development of more than six teeth	Visada
Frontal bossing	Visada
Full upper lip	Visada
High forehead	Visada
High palate	Visada
Midface retrusion	Visada
Short nose	Visada
Triangular mouth	Visada
Wide mouth	Visada
Wide nasal bridge	Visada
Gum enlargement	Labai dažnai (80–99%)
Long philtrum	Labai dažnai (80–99%)
Nasal tip, upturned	Labai dažnai (80–99%)
Wide nose	Labai dažnai (80–99%)
Abnormality of the gums	Dažnai (30–79%)
Broad opening between the eyelids	Dažnai (30–79%)
Central cleft palate	Dažnai (30–79%)
Cleft palate	Dažnai (30–79%)
Cleft tongue	Dažnai (30–79%)
Curly eyelashes	Dažnai (30–79%)
Delayed loss of baby teeth	Dažnai (30–79%)
Downturned corners of mouth	Dažnai (30–79%)
Downward slanting of the opening between the eyelids	Dažnai (30–79%)
Euryblepharon	Dažnai (30–79%)
Eye folds	Dažnai (30–79%)
Flat face	Dažnai (30–79%)
High, narrow palate	Dažnai (30–79%)
Increased thickness of skull cap	Dažnai (30–79%)
Little lower jaw	Dažnai (30–79%)
Long eyelashes	Dažnai (30–79%)
Open bite	Dažnai (30–79%)
Prominent forehead	Dažnai (30–79%)
Receding chin	Dažnai (30–79%)
Short lingual frenulum	Dažnai (30–79%)
Thin red part of the upper lip	Dažnai (30–79%)
Upward slanting of the opening between the eyelids	Dažnai (30–79%)
Wider-than-typical soft spot of skull	Dažnai (30–79%)
Zygomatic flattening	Dažnai (30–79%)
Absent uvula	Kartais (5–29%)
Cleft soft palate	Kartais (5–29%)
Extra teeth	Kartais (5–29%)
Failure of development of all teeth	Kartais (5–29%)
Failure of development of between one and six teeth	Kartais (5–29%)
Short neck	Kartais (5–29%)
Short philtrum	Kartais (5–29%)
Abnormal dentition	Neužfiksuota
Abnormally large tongue	Neužfiksuota
Bad bite	Neužfiksuota
Cleft of the mouth	Neužfiksuota
Delayed eruption of teeth	Neužfiksuota
Dental crowding	Neužfiksuota
Narrow palate	Neužfiksuota
Short hard palate	Neužfiksuota

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
Hip dislocation	Visada
Short fingers or toes	Visada
Underdeveloped outer large forearm bone	Visada
Broad big toe	Labai dažnai (80–99%)
Curvature of digit	Labai dažnai (80–99%)
Short palm	Labai dažnai (80–99%)
Smaller or shorter than typical limbs	Labai dažnai (80–99%)
Broad thumb	Dažnai (30–79%)
Curvature of little finger	Dažnai (30–79%)
Dislocated radial head	Dažnai (30–79%)
Disproportionately short middle portion of limb	Dažnai (30–79%)
Limited elbow extension and supination	Dažnai (30–79%)
Notched outermost bone of the thumb	Dažnai (30–79%)
Partial duplication of hand bones	Dažnai (30–79%)
Partial duplication of the thumb bones	Dažnai (30–79%)
Avascular necrosis of the capital femoral epiphysis	Kartais (5–29%)
Coxa valga	Kartais (5–29%)
Coxa vara	Kartais (5–29%)
Elbow dislocation	Kartais (5–29%)
Finger syndactyly	Kartais (5–29%)
Permanent flexion of the finger	Kartais (5–29%)
Broad toe	Neužfiksuota
Disproportionately short upper portion of limb	Neužfiksuota
Duplication of the outermost bone of hand	Neužfiksuota
Notched outermost bones of toes	Neužfiksuota
Radial deviation of finger	Neužfiksuota
Short middle bone of the little finger	Neužfiksuota
Short outermost finger bone	Neužfiksuota
Small hand	Neužfiksuota

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
Limited hip extension	Visada
Short long bone	Labai dažnai (80–99%)
Abnormal vertebral body morphology	Dažnai (30–79%)
Funnel chest	Dažnai (30–79%)
Kyphoscoliosis	Dažnai (30–79%)
Missing part of vertebrae	Dažnai (30–79%)
Permanent flexion of the finger or toe	Dažnai (30–79%)
Scoliosis	Dažnai (30–79%)
Abnormal formation of the hip	Kartais (5–29%)
Pigeon chest	Kartais (5–29%)
Delayed bone maturation	Neužfiksuota

Abnormality of the genitourinary system

Požymis	Kaip dažnai pasireiškia
Short penis	Visada
Underdeveloped penis	Labai dažnai (80–99%)
Undescended testes	Labai dažnai (80–99%)
Hypospadias	Dažnai (30–79%)
Small clitoris	Dažnai (30–79%)
Small labia majora	Dažnai (30–79%)
Underdeveloped inner lips	Dažnai (30–79%)
Abnormality of the penis	Kartais (5–29%)
Epispadias	Kartais (5–29%)
Hydronephrosis	Neužfiksuota

Abnormality of the integument

Požymis	Kaip dažnai pasireiškia
Spinal dimple	Dažnai (30–79%)
Abnormal fingernail development	Kartais (5–29%)
Atypical nail growth	Kartais (5–29%)
Hair loss	Kartais (5–29%)
Overgrowth and curving of fingernail	Kartais (5–29%)
Port-wine stain on eyelid	Kartais (5–29%)
Ridged fingernail	Kartais (5–29%)
port-wine stain	Neužfiksuota

Abnormality of the ear

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

Abnormality of the nervous system

Požymis	Kaip dažnai pasireiškia
Global developmental delay	Visada
Thin corpus callosum	Visada
Obstructive sleep apnea	Dažnai (30–79%)
Epilepsy	Kartais (5–29%)
Intellectual disability	Kartais (5–29%)
Specific learning disability	Kartais (5–29%)

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Umbilical hernia	Dažnai (30–79%)
Femoral hernia	Kartais (5–29%)
Inguinal hernia	Kartais (5–29%)
Omphalocele	Kartais (5–29%)
Extra kidney	Neužfiksuota

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Wide-set eyes	Labai dažnai (80–99%)
Blue outer white part of eyeball	Dažnai (30–79%)
Bulging eye	Dažnai (30–79%)
Cross-eyed	Kartais (5–29%)
Drooping upper eyelid	Kartais (5–29%)

Abnormality of the cardiovascular system

Požymis	Kaip dažnai pasireiškia
Abnormal atrial septum morphology	Kartais (5–29%)
Hole in heart wall separating two lower heart chambers	Kartais (5–29%)
Strawberry birthmark	Kartais (5–29%)
Right ventricular outlet tract obstruction	Neužfiksuota

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Short stature	Visada
Severe short stature	Dažnai (30–79%)

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 DVL1 susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

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