Tunnused

Geeniga AHDC1 seotud tunnused

AT-hook DNA binding motif containing 1

Inimese fenotüübi ontoloogia seostab geeniga AHDC1 194 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

AHDC1

Abnormality of the nervous system

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

Abnormality of head or neck

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

Abnormality of limbs

Tunnus	Kui sageli seda täheldatakse
Abnormal rhythmic movements of ankle	Alati
Dislocated hip since birth	Alati
Short fingers or toes	Alati
Tapered finger	Väga sageli (80–99%)
Curvature of digit	Sageli (30–79%)
High-arched foot	Sageli (30–79%)
Short foot	Sageli (30–79%)
Single transverse palmar crease	Sageli (30–79%)
Small hand	Sageli (30–79%)
Club feet	Mõnikord (5–29%)
Curvature of little finger	Mõnikord (5–29%)
Dropped arches	Mõnikord (5–29%)
Positional foot deformity	Mõnikord (5–29%)
Prominent fingertip pads	Mõnikord (5–29%)
Recurrent patellar dislocation	Mõnikord (5–29%)

Abnormality of the eye

Tunnus	Kui sageli seda täheldatakse
Astigmatism	Alati
Involuntary, rapid, rhythmic eye movements	Alati
Lazy eye	Alati
Macular dystrophy	Alati
Cross-eyed	Sageli (30–79%)
Drooping upper eyelid	Sageli (30–79%)
Farsightedness	Sageli (30–79%)
Inward turning cross eyed	Sageli (30–79%)
Outward facing eye ball	Sageli (30–79%)
Upbeat nystagmus	Sageli (30–79%)
Wide-set eyes	Sageli (30–79%)
Bulging eye	Mõnikord (5–29%)
Cerebral visual impairment	Mõnikord (5–29%)
Deeply set eye	Mõnikord (5–29%)
Mild myopia	Mõnikord (5–29%)

Abnormality of the musculoskeletal system

Tunnus	Kui sageli seda täheldatakse
Abnormal curve of the backbone	Alati
Low muscle tone	Alati
Poor head control	Alati
Progressive muscle weakness	Alati
Spinal muscle degeneration	Alati
Double-Jointed	Väga sageli (80–99%)
Abnormality of the vertebral column	Sageli (30–79%)
Funnel chest	Sageli (30–79%)
Scoliosis	Sageli (30–79%)
Spasticity and rigidity of muscles	Sageli (30–79%)
Excessive inward curvature of lower spine	Mõnikord (5–29%)
Shield chest	Mõnikord (5–29%)
Spastic tetraparesis	Harva (1–4%)

Abnormality of the ear

Tunnus	Kui sageli seda täheldatakse
Abnormality of the cochlear nerve	Alati
Chronic infections of the middle ear	Alati
Hearing impairment	Sageli (30–79%)
Low-set ears	Sageli (30–79%)
Cupped ear	Mõnikord (5–29%)
Overfolded ears	Mõnikord (5–29%)
Prominent ear	Mõnikord (5–29%)
Simple ear	Mõnikord (5–29%)
Small earlobe	Mõnikord (5–29%)
Small ears	Mõnikord (5–29%)
Uplifted earlobe	Mõnikord (5–29%)

Abnormality of the digestive system

Tunnus	Kui sageli seda täheldatakse
Constipation	Alati
Poor swallowing	Alati
Tube feeding	Alati
Feeding difficulties	Sageli (30–79%)
Inguinal hernia	Sageli (30–79%)
Enlarged liver	Mõnikord (5–29%)
Omphalocele	Mõnikord (5–29%)

Abnormality of the respiratory system

Tunnus	Kui sageli seda täheldatakse
Low blood oxygen level	Alati
Neonatal respiratory distress	Alati
Respiratory failure requiring assisted ventilation	Alati
Upper airway obstruction	Alati
Softening of voice box tissue	Sageli (30–79%)
Floppy windpipe	Mõnikord (5–29%)

Abnormality of the cardiovascular system

Tunnus	Kui sageli seda täheldatakse
An opening in the wall separating the top two chambers of the heart	Sageli (30–79%)
Hole in heart wall separating two lower heart chambers	Mõnikord (5–29%)
Mitral regurgitation	Mõnikord (5–29%)

Abnormality of the integument

Tunnus	Kui sageli seda täheldatakse
Narrow nail	Alati
Soft skin	Sageli (30–79%)
Absence of part of skin at birth	Mõnikord (5–29%)

Growth abnormality

Tunnus	Kui sageli seda täheldatakse
Prenatal growth deficiency	Alati
Faltering weight	Sageli (30–79%)
Short stature	Sageli (30–79%)

Abnormality of the genitourinary system

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

Abnormal cellular phenotype

Tunnus	Kui sageli seda täheldatakse
Decreased activity of mitochondrial complex IV	Alati

Abnormality of the breast

Tunnus	Kui sageli seda täheldatakse
Wide-spaced nipples	Mõnikord (5–29%)

Constitutional symptom

Tunnus	Kui sageli seda täheldatakse
Impaired toileting ability	Alati

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 AHDC1 seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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