Požymiai

Su AHDC1 susiję požymiai

AT-hook DNA binding motif containing 1

Žmogaus fenotipo ontologija sieja 194 požymių su AHDC1, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.

AHDC1

Abnormality of the nervous system

Požymis	Kaip dažnai pasireiškia
Abnormal corpus callosum morphology	Visada
Abnormal gait	Visada
Babinski sign	Visada
Bilateral tonic-clonic seizure with focal onset	Visada
Degeneration of cerebrum	Visada
Delayed ability to stand	Visada
Delayed speech and language development	Visada
Difficulty sleeping	Visada
EEG abnormality	Visada
Frontal cortical atrophy	Visada
Global developmental delay	Visada
Grand mal seizures	Visada
Intellectual disability	Visada
Jerking	Visada
Loss of developmental milestones	Visada
More active than typical	Visada
Motor delay	Visada
Poor speech	Visada
Slow movements	Visada
Temporal cortical atrophy	Visada
Wide based walk	Visada
Delayed ability to sit	Labai dažnai (80–99%)
Delayed ability to walk	Labai dažnai (80–99%)
Obstructive sleep apnea	Labai dažnai (80–99%)
Abnormal shape of brain	Dažnai (30–79%)
Absent speech development	Dažnai (30–79%)
Aggressive behavior	Dažnai (30–79%)
Anxiety	Dažnai (30–79%)
Ataxia	Dažnai (30–79%)
Autism	Dažnai (30–79%)
Autism spectrum disorder	Dažnai (30–79%)
Communication delay	Dažnai (30–79%)
Delayed CNS myelination	Dažnai (30–79%)
Epilepsy	Dažnai (30–79%)
Impulsivity	Dažnai (30–79%)
Inability to coordinate movements when walking	Dažnai (30–79%)
Intellectual disability, severe	Dažnai (30–79%)
IQ between 34 and 49	Dažnai (30–79%)
Pauses in breathing while sleeping	Dažnai (30–79%)
Reduced cerebral white matter volume	Dažnai (30–79%)
Self-injurious behavior	Dažnai (30–79%)
Simplified gyral pattern	Dažnai (30–79%)
Snoring	Dažnai (30–79%)
Thin corpus callosum	Dažnai (30–79%)
Underdevelopment of part of brain called corpus callosum	Dažnai (30–79%)
Ventriculomegaly	Dažnai (30–79%)
Agenesis of corpus callosum	Kartais (5–29%)
Cerebral hypomyelination	Kartais (5–29%)
Delayed myelination	Kartais (5–29%)
Extra-axial cerebrospinal fluid accumulation	Kartais (5–29%)
Fluid-filled sac located in membrane surrounding brain or spinal cord	Kartais (5–29%)
Focal emotional seizure with laughing	Kartais (5–29%)
Intellectual disability, mild	Kartais (5–29%)
Periventricular leukomalacia	Kartais (5–29%)
Retrocerebellar cyst	Kartais (5–29%)
Seizure affecting one half of brain	Kartais (5–29%)
Small brainstem	Kartais (5–29%)
Subcortical U fiber lesion	Kartais (5–29%)
Subependymal cysts	Kartais (5–29%)
Teeth grinding	Kartais (5–29%)
Cerebral palsy	Retai (1–4 %)

Abnormality of head or neck

Požymis	Kaip dažnai pasireiškia
Abnormality of the head	Visada
Bicoronal synostosis	Visada
Chewing difficulties	Visada
Coronal craniosynostosis	Visada
Decrease in jaw mobility	Visada
Enlarged cisterna magna	Visada
Eye folds	Visada
High forehead	Visada
Lambdoidal craniosynostosis	Visada
Long, narrow head	Visada
Narrow eyelid opening	Visada
Wide mouth	Visada
Abnormal facial shape	Dažnai (30–79%)
Abnormally small head	Dažnai (30–79%)
Asymmetry of the posterior head	Dažnai (30–79%)
Big calvaria	Dažnai (30–79%)
Broad forehead	Dažnai (30–79%)
Broad nasal tip	Dažnai (30–79%)
Depressed nasal bridge	Dažnai (30–79%)
High palate	Dažnai (30–79%)
Horizontal eyebrow	Dažnai (30–79%)
Little lower jaw	Dažnai (30–79%)
Long philtrum	Dažnai (30–79%)
Monobrow	Dažnai (30–79%)
Nasal tip, upturned	Dažnai (30–79%)
Relatively large head	Dažnai (30–79%)
Short columella	Dažnai (30–79%)
Smooth philtrum	Dažnai (30–79%)
Thin red part of the upper lip	Dažnai (30–79%)
Underdeveloped tissue around nostril	Dažnai (30–79%)
Upward slanting of the opening between the eyelids	Dažnai (30–79%)
Widely spaced teeth	Dažnai (30–79%)
Almond shaped eyes	Kartais (5–29%)
Broad head shape	Kartais (5–29%)
Broad opening between the eyelids	Kartais (5–29%)
Broad philtrum	Kartais (5–29%)
Cleft palate	Kartais (5–29%)
Coarse facial features	Kartais (5–29%)
Deformity of the skull	Kartais (5–29%)
Downward slanting of the opening between the eyelids	Kartais (5–29%)
Drooping lower lip	Kartais (5–29%)
Early closure of midline skull joint	Kartais (5–29%)
Frontal bossing	Kartais (5–29%)
Low hanging columella	Kartais (5–29%)
Narrow forehead	Kartais (5–29%)
Narrow mouth	Kartais (5–29%)
Short chin	Kartais (5–29%)
Short neck	Kartais (5–29%)
Short philtrum	Kartais (5–29%)
Submucous cleft palate	Kartais (5–29%)
Tented mouth	Kartais (5–29%)
Wide nasal bridge	Kartais (5–29%)

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
Abnormal rhythmic movements of ankle	Visada
Dislocated hip since birth	Visada
Short fingers or toes	Visada
Tapered finger	Labai dažnai (80–99%)
Curvature of digit	Dažnai (30–79%)
High-arched foot	Dažnai (30–79%)
Short foot	Dažnai (30–79%)
Single transverse palmar crease	Dažnai (30–79%)
Small hand	Dažnai (30–79%)
Club feet	Kartais (5–29%)
Curvature of little finger	Kartais (5–29%)
Dropped arches	Kartais (5–29%)
Positional foot deformity	Kartais (5–29%)
Prominent fingertip pads	Kartais (5–29%)
Recurrent patellar dislocation	Kartais (5–29%)

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Astigmatism	Visada
Involuntary, rapid, rhythmic eye movements	Visada
Lazy eye	Visada
Macular dystrophy	Visada
Cross-eyed	Dažnai (30–79%)
Drooping upper eyelid	Dažnai (30–79%)
Farsightedness	Dažnai (30–79%)
Inward turning cross eyed	Dažnai (30–79%)
Outward facing eye ball	Dažnai (30–79%)
Upbeat nystagmus	Dažnai (30–79%)
Wide-set eyes	Dažnai (30–79%)
Bulging eye	Kartais (5–29%)
Cerebral visual impairment	Kartais (5–29%)
Deeply set eye	Kartais (5–29%)
Mild myopia	Kartais (5–29%)

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
Abnormal curve of the backbone	Visada
Low muscle tone	Visada
Poor head control	Visada
Progressive muscle weakness	Visada
Spinal muscle degeneration	Visada
Double-Jointed	Labai dažnai (80–99%)
Abnormality of the vertebral column	Dažnai (30–79%)
Funnel chest	Dažnai (30–79%)
Scoliosis	Dažnai (30–79%)
Spasticity and rigidity of muscles	Dažnai (30–79%)
Excessive inward curvature of lower spine	Kartais (5–29%)
Shield chest	Kartais (5–29%)
Spastic tetraparesis	Retai (1–4 %)

Abnormality of the ear

Požymis	Kaip dažnai pasireiškia
Abnormality of the cochlear nerve	Visada
Chronic infections of the middle ear	Visada
Hearing impairment	Dažnai (30–79%)
Low-set ears	Dažnai (30–79%)
Cupped ear	Kartais (5–29%)
Overfolded ears	Kartais (5–29%)
Prominent ear	Kartais (5–29%)
Simple ear	Kartais (5–29%)
Small earlobe	Kartais (5–29%)
Small ears	Kartais (5–29%)
Uplifted earlobe	Kartais (5–29%)

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Constipation	Visada
Poor swallowing	Visada
Tube feeding	Visada
Feeding difficulties	Dažnai (30–79%)
Inguinal hernia	Dažnai (30–79%)
Enlarged liver	Kartais (5–29%)
Omphalocele	Kartais (5–29%)

Abnormality of the respiratory system

Požymis	Kaip dažnai pasireiškia
Low blood oxygen level	Visada
Neonatal respiratory distress	Visada
Respiratory failure requiring assisted ventilation	Visada
Upper airway obstruction	Visada
Softening of voice box tissue	Dažnai (30–79%)
Floppy windpipe	Kartais (5–29%)

Abnormality of the cardiovascular system

Požymis	Kaip dažnai pasireiškia
An opening in the wall separating the top two chambers of the heart	Dažnai (30–79%)
Hole in heart wall separating two lower heart chambers	Kartais (5–29%)
Mitral regurgitation	Kartais (5–29%)

Abnormality of the integument

Požymis	Kaip dažnai pasireiškia
Narrow nail	Visada
Soft skin	Dažnai (30–79%)
Absence of part of skin at birth	Kartais (5–29%)

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Prenatal growth deficiency	Visada
Faltering weight	Dažnai (30–79%)
Short stature	Dažnai (30–79%)

Abnormality of the genitourinary system

Požymis	Kaip dažnai pasireiškia
Short penis	Dažnai (30–79%)
Undescended testes	Dažnai (30–79%)

Abnormal cellular phenotype

Požymis	Kaip dažnai pasireiškia
Decreased activity of mitochondrial complex IV	Visada

Abnormality of the breast

Požymis	Kaip dažnai pasireiškia
Wide-spaced nipples	Kartais (5–29%)

Constitutional symptom

Požymis	Kaip dažnai pasireiškia
Impaired toileting ability	Visada

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 AHDC1 susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

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