Požymiai

Su GJA1 susiję požymiai

gap junction protein alpha 1

Žmogaus fenotipo ontologija sieja 223 požymių su GJA1, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.

GJA1

Abnormality of head or neck

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

Abnormality of limbs

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

Abnormality of the integument

Požymis	Kaip dažnai pasireiškia
Atypical nail growth	Visada
Brittle hair	Visada
Chicken skin	Visada
Fine hair	Visada
Hair loss	Visada
Hypergranulosis	Visada
Hyperkeratosis	Visada
Orthokeratosis	Visada
Patchy darkened skin	Visada
Sparse hair	Visada
Thickening of upper layer of skin	Visada
White discoloration of nails	Visada
Abnormal blistering of the skin	Labai dažnai (80–99%)
Abnormality of the nail	Labai dažnai (80–99%)
Flat, discolored area of skin	Labai dažnai (80–99%)
Hyperpigmented skin patches	Labai dažnai (80–99%)
Photosensitive skin	Labai dažnai (80–99%)
Poor nail formation	Labai dažnai (80–99%)
Abnormal fingernails	Dažnai (30–79%)
Abnormality of the hair	Dažnai (30–79%)
Curly hair	Dažnai (30–79%)
Dry skin	Dažnai (30–79%)
Generalized hypotrichosis	Dažnai (30–79%)
Grooved nails	Dažnai (30–79%)
Irregular hyperpigmentation	Dažnai (30–79%)
Sclerodactyly	Dažnai (30–79%)
Slow-growing hair	Dažnai (30–79%)
Absent hair	Kartais (5–29%)
Cracked skin	Kartais (5–29%)
Dry hair	Kartais (5–29%)
Excessive hairiness over body	Kartais (5–29%)
Poor wound healing	Kartais (5–29%)
Scaling skin	Kartais (5–29%)
Skin cancer	Kartais (5–29%)
Trichorrhexis nodosa	Kartais (5–29%)
Brittle nails	Neužfiksuota

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Abnormally small eyeball	Visada
Glaucoma	Visada
Uveitis	Visada
Wide-set eyes	Visada
Cornea of eye less than 10mm in diameter	Labai dažnai (80–99%)
Abnormality of the eye	Dažnai (30–79%)
Abnormality of vision	Dažnai (30–79%)
Abnormally close eyes	Dažnai (30–79%)
Close sighted	Dažnai (30–79%)
Clouding of the lens of the eye	Dažnai (30–79%)
Deeply set eye	Dažnai (30–79%)
Optic atrophy	Dažnai (30–79%)
Persistent pupillary membrane	Dažnai (30–79%)
Severe farsightedness	Dažnai (30–79%)
Visual impairment	Dažnai (30–79%)
Abnormality of the iris	Kartais (5–29%)
Corneal opacity	Kartais (5–29%)
Cross-eyed	Kartais (5–29%)
Involuntary, rapid, rhythmic eye movements	Kartais (5–29%)
Yellowish cloudy center of lens	Kartais (5–29%)
Extreme sensitivity of the eyes to light	Retai (1–4 %)

Abnormality of the nervous system

Požymis	Kaip dažnai pasireiškia
Abnormal gait	Dažnai (30–79%)
Absent/small cerebellum	Dažnai (30–79%)
Ataxia	Dažnai (30–79%)
Delayed motor skills	Dažnai (30–79%)
Delayed speech and language development	Dažnai (30–79%)
Difficulty articulating speech	Dažnai (30–79%)
Epilepsy	Dažnai (30–79%)
Global developmental delay	Dažnai (30–79%)
Increased reflexes	Dažnai (30–79%)
Mild global developmental delay	Dažnai (30–79%)
Abnormal cranial nerve morphology	Kartais (5–29%)
Intellectual disability	Kartais (5–29%)
Meningocele	Kartais (5–29%)
Abnormal cerebral white matter morphology	Neužfiksuota
Hyperactive deep tendon reflexes	Neužfiksuota
Partial paralysis of legs	Neužfiksuota
Tetraparesis	Neužfiksuota

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
Harder, denser, fracture-prone bones	Labai dažnai (80–99%)
Abnormal cortical bone morphology	Dažnai (30–79%)
Abnormal deposits of calcium in the brain	Dažnai (30–79%)
Abnormal skeletal development	Dažnai (30–79%)
Bone overgrowth	Dažnai (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Dažnai (30–79%)
Muscle weakness	Dažnai (30–79%)
Spastic paraparesis	Dažnai (30–79%)
Abnormal collarbone	Kartais (5–29%)
Abnormal vertebral body morphology	Kartais (5–29%)
Abnormality of the chest	Neužfiksuota
Basal ganglia calcification	Neužfiksuota
Broad long bones	Neužfiksuota
Delayed bone maturation	Neužfiksuota
Vertebral hyperostosis	Neužfiksuota

Abnormality of the cardiovascular system

Požymis	Kaip dažnai pasireiškia
Palmoplantar erythema	Visada
Redness of skin or mucous membrane	Visada
Underdeveloped left heart	Labai dažnai (80–99%)
Underdeveloped aortic arch	Dažnai (30–79%)
Abnormal cardiovascular system morphology	Kartais (5–29%)
Abnormal heart rate	Kartais (5–29%)
An opening in the wall separating the top two chambers of the heart	Kartais (5–29%)
Blushed cheeks	Kartais (5–29%)
Hole in heart wall separating two lower heart chambers	Kartais (5–29%)
Mitral atresia	Kartais (5–29%)
Mitral stenosis	Kartais (5–29%)
Patent ductus arteriosus	Kartais (5–29%)

Abnormality of the ear

Požymis	Kaip dažnai pasireiškia
Abnormality of the ear	Labai dažnai (80–99%)
Abnormally shaped ears	Dažnai (30–79%)
Conductive deafness	Dažnai (30–79%)
Deafness in one ear	Kartais (5–29%)
Hearing impairment	Kartais (5–29%)
Prominent ear	Kartais (5–29%)
Sensorineural hearing impairment	Kartais (5–29%)
Large earlobe	Neužfiksuota
Low-set ears	Neužfiksuota
Mixed hearing impairment	Neužfiksuota

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Short stature	Labai dažnai (80–99%)
Weight loss	Labai dažnai (80–99%)
Faltering weight	Dažnai (30–79%)

Abnormality of the genitourinary system

Požymis	Kaip dažnai pasireiškia
Lack of bladder control due to nervous system injury	Dažnai (30–79%)
Abnormality of the testis	Kartais (5–29%)

Laboratory abnormality

Požymis	Kaip dažnai pasireiškia
Diabetes mellitus	Dažnai (30–79%)
Low blood sugar	Kartais (5–29%)

Abnormal cellular phenotype

Požymis	Kaip dažnai pasireiškia
Abnormality of chromosome segregation	Kartais (5–29%)

Abnormality of prenatal development or birth

Požymis	Kaip dažnai pasireiškia
Digital constriction ring	Dažnai (30–79%)

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Umbilical hernia	Kartais (5–29%)

Abnormality of the immune system

Požymis	Kaip dažnai pasireiškia
Skin rash	Labai dažnai (80–99%)

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 GJA1 susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

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