Trăsături

Trăsături asociate cu GJA1

gap junction protein alpha 1

Human Phenotype Ontology asociază 223 trăsături cu GJA1, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

GJA1

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Decreased width of baby teeth	Întotdeauna
Delayed eruption of teeth	Întotdeauna
Enlargement of facial bones	Întotdeauna
Flat nose	Întotdeauna
Little lower jaw	Întotdeauna
Sparse eyebrow	Întotdeauna
Underdeveloped tissue around nostril	Întotdeauna
Wide fontanelles	Întotdeauna
Abnormal tooth enamel	Foarte des (80–99%)
Abnormality of the nose	Foarte des (80–99%)
Abnormally small head	Foarte des (80–99%)
Broad columella	Foarte des (80–99%)
Cleft palate	Foarte des (80–99%)
Decreased number of teeth	Foarte des (80–99%)
Dental cavities	Foarte des (80–99%)
Depressed nasal bridge	Foarte des (80–99%)
Early loss of baby teeth	Foarte des (80–99%)
Enlargement of craniofacial bones	Foarte des (80–99%)
Narrow nasal bridge	Foarte des (80–99%)
Sparse eyelashes	Foarte des (80–99%)
Sparse scalp hair	Foarte des (80–99%)
Wide nasal bridge	Foarte des (80–99%)
Big lower jaw	Des (30–79%)
Central cleft upper lip	Des (30–79%)
Corners of eye widely separated	Des (30–79%)
Enlargement of skull bones	Des (30–79%)
High forehead	Des (30–79%)
High palate	Des (30–79%)
Large cranial suture	Des (30–79%)
Nasal tip, upturned	Des (30–79%)
Short nose	Des (30–79%)
Wide gum ridges	Des (30–79%)
Absent eyebrow	Uneori (5–29%)
Bell's palsy	Uneori (5–29%)
Eye folds	Uneori (5–29%)
Non-midline cleft of the upper lip	Uneori (5–29%)
Taurodontia	Uneori (5–29%)
Upward slanting of the opening between the eyelids	Uneori (5–29%)
Abnormal nasopharynx morphology	Neînregistrat
Absence of a tooth	Neînregistrat
Bad bite	Neînregistrat
Big calvaria	Neînregistrat
Blockage of nose	Neînregistrat
Bony paranasal bossing	Neînregistrat
Broad head shape	Neînregistrat
Cleft upper lip	Neînregistrat
Coarse facial features	Neînregistrat
Decreased size of maxilla	Neînregistrat
Decreased size of teeth	Neînregistrat
Decreased size of tooth	Neînregistrat
Decreased volume of lip	Neînregistrat
Delayed eruption of permanent teeth	Neînregistrat
Dental crowding	Neînregistrat
Downward slanting of the opening between the eyelids	Neînregistrat
Early tooth loss	Neînregistrat
Frontal bossing	Neînregistrat
Long nose	Neînregistrat
Long philtrum	Neînregistrat
Low hanging columella	Neînregistrat
Macrodontia of permanent maxillary central incisor	Neînregistrat
Narrow mouth	Neînregistrat
Narrow nose	Neînregistrat
Narrow opening between the eyelids	Neînregistrat
Short opening between the eyelids	Neînregistrat
Thin dental enamel	Neînregistrat

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Plantar hyperkeratosis	Întotdeauna
Thickening of palms and soles	Întotdeauna
Webbed 4th-5th finger	Întotdeauna
Abnormality of the wide portion of a long bone	Foarte des (80–99%)
Curvature of little finger	Foarte des (80–99%)
Finger syndactyly	Foarte des (80–99%)
Fused toes	Foarte des (80–99%)
Joint contracture of the 5th finger	Foarte des (80–99%)
3-4 finger cutaneous syndactyly	Des (30–79%)
Absent/small middle finger bone of the hand	Des (30–79%)
Curvature of digit	Des (30–79%)
Flexion contracture of finger	Des (30–79%)
Patchy palmoplantar hyperkeratosis	Des (30–79%)
Permanent flexion of the finger	Des (30–79%)
Abnormal shape of shaft of long bone	Uneori (5–29%)
Extra finger	Uneori (5–29%)
Extra thumb	Uneori (5–29%)
Madelung deformity	Uneori (5–29%)
Short big toe	Uneori (5–29%)
Short fingers or toes	Uneori (5–29%)
Short toe	Uneori (5–29%)
Tapered finger	Uneori (5–29%)
Absent middle bone of little finger	Neînregistrat
Club-shaped outermost end of thighbone	Neînregistrat
Curvature of outermost bone of little finger	Neînregistrat
Flared wide portion of long bone	Neînregistrat
Hip dislocation	Neînregistrat
Metaphyseal dysplasia	Neînregistrat
Outward turned elbows	Neînregistrat
Short 5th finger	Neînregistrat
Short foot	Neînregistrat
Short middle bone of the little finger	Neînregistrat
Small hand	Neînregistrat
Uneven increase in bone density in finger bone	Neînregistrat
Webbed 2nd, 3rd and 4th toes	Neînregistrat
Webbed 3rd-4th toes	Neînregistrat

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Atypical nail growth	Întotdeauna
Brittle hair	Întotdeauna
Chicken skin	Întotdeauna
Fine hair	Întotdeauna
Hair loss	Întotdeauna
Hypergranulosis	Întotdeauna
Hyperkeratosis	Întotdeauna
Orthokeratosis	Întotdeauna
Patchy darkened skin	Întotdeauna
Sparse hair	Întotdeauna
Thickening of upper layer of skin	Întotdeauna
White discoloration of nails	Întotdeauna
Abnormal blistering of the skin	Foarte des (80–99%)
Abnormality of the nail	Foarte des (80–99%)
Flat, discolored area of skin	Foarte des (80–99%)
Hyperpigmented skin patches	Foarte des (80–99%)
Photosensitive skin	Foarte des (80–99%)
Poor nail formation	Foarte des (80–99%)
Abnormal fingernails	Des (30–79%)
Abnormality of the hair	Des (30–79%)
Curly hair	Des (30–79%)
Dry skin	Des (30–79%)
Generalized hypotrichosis	Des (30–79%)
Grooved nails	Des (30–79%)
Irregular hyperpigmentation	Des (30–79%)
Sclerodactyly	Des (30–79%)
Slow-growing hair	Des (30–79%)
Absent hair	Uneori (5–29%)
Cracked skin	Uneori (5–29%)
Dry hair	Uneori (5–29%)
Excessive hairiness over body	Uneori (5–29%)
Poor wound healing	Uneori (5–29%)
Scaling skin	Uneori (5–29%)
Skin cancer	Uneori (5–29%)
Trichorrhexis nodosa	Uneori (5–29%)
Brittle nails	Neînregistrat

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Abnormally small eyeball	Întotdeauna
Glaucoma	Întotdeauna
Uveitis	Întotdeauna
Wide-set eyes	Întotdeauna
Cornea of eye less than 10mm in diameter	Foarte des (80–99%)
Abnormality of the eye	Des (30–79%)
Abnormality of vision	Des (30–79%)
Abnormally close eyes	Des (30–79%)
Close sighted	Des (30–79%)
Clouding of the lens of the eye	Des (30–79%)
Deeply set eye	Des (30–79%)
Optic atrophy	Des (30–79%)
Persistent pupillary membrane	Des (30–79%)
Severe farsightedness	Des (30–79%)
Visual impairment	Des (30–79%)
Abnormality of the iris	Uneori (5–29%)
Corneal opacity	Uneori (5–29%)
Cross-eyed	Uneori (5–29%)
Involuntary, rapid, rhythmic eye movements	Uneori (5–29%)
Yellowish cloudy center of lens	Uneori (5–29%)
Extreme sensitivity of the eyes to light	Rar (1–4%)

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Abnormal gait	Des (30–79%)
Absent/small cerebellum	Des (30–79%)
Ataxia	Des (30–79%)
Delayed motor skills	Des (30–79%)
Delayed speech and language development	Des (30–79%)
Difficulty articulating speech	Des (30–79%)
Epilepsy	Des (30–79%)
Global developmental delay	Des (30–79%)
Increased reflexes	Des (30–79%)
Mild global developmental delay	Des (30–79%)
Abnormal cranial nerve morphology	Uneori (5–29%)
Intellectual disability	Uneori (5–29%)
Meningocele	Uneori (5–29%)
Abnormal cerebral white matter morphology	Neînregistrat
Hyperactive deep tendon reflexes	Neînregistrat
Partial paralysis of legs	Neînregistrat
Tetraparesis	Neînregistrat

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Harder, denser, fracture-prone bones	Foarte des (80–99%)
Abnormal cortical bone morphology	Des (30–79%)
Abnormal deposits of calcium in the brain	Des (30–79%)
Abnormal skeletal development	Des (30–79%)
Bone overgrowth	Des (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Des (30–79%)
Muscle weakness	Des (30–79%)
Spastic paraparesis	Des (30–79%)
Abnormal collarbone	Uneori (5–29%)
Abnormal vertebral body morphology	Uneori (5–29%)
Abnormality of the chest	Neînregistrat
Basal ganglia calcification	Neînregistrat
Broad long bones	Neînregistrat
Delayed bone maturation	Neînregistrat
Vertebral hyperostosis	Neînregistrat

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Palmoplantar erythema	Întotdeauna
Redness of skin or mucous membrane	Întotdeauna
Underdeveloped left heart	Foarte des (80–99%)
Underdeveloped aortic arch	Des (30–79%)
Abnormal cardiovascular system morphology	Uneori (5–29%)
Abnormal heart rate	Uneori (5–29%)
An opening in the wall separating the top two chambers of the heart	Uneori (5–29%)
Blushed cheeks	Uneori (5–29%)
Hole in heart wall separating two lower heart chambers	Uneori (5–29%)
Mitral atresia	Uneori (5–29%)
Mitral stenosis	Uneori (5–29%)
Patent ductus arteriosus	Uneori (5–29%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Abnormality of the ear	Foarte des (80–99%)
Abnormally shaped ears	Des (30–79%)
Conductive deafness	Des (30–79%)
Deafness in one ear	Uneori (5–29%)
Hearing impairment	Uneori (5–29%)
Prominent ear	Uneori (5–29%)
Sensorineural hearing impairment	Uneori (5–29%)
Large earlobe	Neînregistrat
Low-set ears	Neînregistrat
Mixed hearing impairment	Neînregistrat

Growth abnormality

Trăsătură	Cât de frecvent apare
Short stature	Foarte des (80–99%)
Weight loss	Foarte des (80–99%)
Faltering weight	Des (30–79%)

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Lack of bladder control due to nervous system injury	Des (30–79%)
Abnormality of the testis	Uneori (5–29%)

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Diabetes mellitus	Des (30–79%)
Low blood sugar	Uneori (5–29%)

Abnormal cellular phenotype

Trăsătură	Cât de frecvent apare
Abnormality of chromosome segregation	Uneori (5–29%)

Abnormality of prenatal development or birth

Trăsătură	Cât de frecvent apare
Digital constriction ring	Des (30–79%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Umbilical hernia	Uneori (5–29%)

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Skin rash	Foarte des (80–99%)

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

Human Phenotype Ontology, versiunea 2026-09-01: trăsăturile asociate cu GJA1 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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