Trăsături

Trăsături asociate cu MAF

MAF bZIP transcription factor

Human Phenotype Ontology asociază 93 trăsături cu MAF, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

MAF

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Midface retrusion	Întotdeauna
Flat face	Foarte des (80–99%)
Short nose	Foarte des (80–99%)
Abnormal dentition	Des (30–79%)
Asymmetric crying face	Des (30–79%)
Asymmetry of the posterior head	Des (30–79%)
Broad eyebrow	Des (30–79%)
Broad head shape	Des (30–79%)
Cleft palate	Des (30–79%)
Decreased depth of eye sockets	Des (30–79%)
Depressed nasal bridge	Des (30–79%)
Downward slanting of the opening between the eyelids	Des (30–79%)
Failure of development of more than six teeth	Des (30–79%)
High forehead	Des (30–79%)
Long philtrum	Des (30–79%)
Narrow mouth	Des (30–79%)
Prominent metopic ridge	Des (30–79%)
Sparse scalp hair	Des (30–79%)
Thin red part of the upper lip	Des (30–79%)
Upward slanting of the opening between the eyelids	Des (30–79%)
Wide fontanelles	Des (30–79%)
Abnormality of craniofacial shape	Uneori (5–29%)
Big lower jaw	Uneori (5–29%)
Deformity of the skull	Uneori (5–29%)
Delayed cranial suture closure	Uneori (5–29%)
J-shaped sella turcica	Uneori (5–29%)
Long eyelashes	Uneori (5–29%)
Broad philtrum	Neînregistrat
Smooth philtrum	Neînregistrat
Wide nasal bridge	Neînregistrat
Zygomatic flattening	Neînregistrat

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Clouding of the lens of the eye	Foarte des (80–99%)
Clouding of the lens of the eye at birth	Foarte des (80–99%)
Cornea of eye less than 10mm in diameter	Foarte des (80–99%)
Close sighted	Des (30–79%)
Cortical pulverulent cataract	Des (30–79%)
Drooping of both upper eyelids	Des (30–79%)
Visual impairment	Des (30–79%)
Wide-set eyes	Des (30–79%)
Cat eye	Uneori (5–29%)
Corneal dystrophy	Uneori (5–29%)
Corneal opacity	Uneori (5–29%)
Enlarged cornea	Uneori (5–29%)
Glaucoma	Uneori (5–29%)
Involuntary, rapid, rhythmic eye movements	Uneori (5–29%)
Macular hypoplasia	Uneori (5–29%)
Peters anomaly	Uneori (5–29%)
Retinal detachment	Uneori (5–29%)
Severe near sightedness	Uneori (5–29%)
Cerulean cataract	Neînregistrat
Drooping upper eyelid	Neînregistrat

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Intellectual disability	Întotdeauna
Epilepsy	Foarte des (80–99%)
Global developmental delay	Foarte des (80–99%)
Chiari type I malformation	Des (30–79%)
Decrease in size of the outer layer of the brain due to loss of brain cells	Des (30–79%)
EEG abnormality	Des (30–79%)
Too much cerebrospinal fluid in the brain	Des (30–79%)
Ventriculomegaly	Des (30–79%)
Degeneration of cerebrum	Uneori (5–29%)
Febrile seizure (within the age range of 3 months to 6 years)	Uneori (5–29%)
Underdevelopment of part of brain called corpus callosum	Uneori (5–29%)

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Decreased muscle tone in infant	Des (30–79%)
Limitation of joint mobility	Des (30–79%)
Permanent flexion of the finger or toe	Des (30–79%)
Abnormality of the chest	Uneori (5–29%)
Congenital diaphragmatic hernia	Uneori (5–29%)
Extra ribs	Uneori (5–29%)
Funnel chest	Uneori (5–29%)
Scoliosis	Uneori (5–29%)

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Short fingers or toes	Foarte des (80–99%)
Curvature of little finger	Des (30–79%)
Rocker bottom foot	Des (30–79%)
Tapered finger	Des (30–79%)
Fused forearm bones	Uneori (5–29%)
Reduced arm span	Uneori (5–29%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Hearing impairment	Întotdeauna
Ears rotated toward back of head	Des (30–79%)
Low-set ears	Des (30–79%)
Sensorineural hearing impairment	Des (30–79%)
Small ears	Des (30–79%)
Narrow ear canal	Uneori (5–29%)

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Swelling or irritation of membrane around heart	Des (30–79%)
Abnormal cardiovascular system morphology	Uneori (5–29%)
Fluid around heart	Uneori (5–29%)
Patent ductus arteriosus	Uneori (5–29%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Growth delay as children	Foarte des (80–99%)
Short stature	Des (30–79%)

Abnormality of the breast

Trăsătură	Cât de frecvent apare
Underdeveloped breasts	Uneori (5–29%)

Abnormality of the digestive system

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

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Undescended testes	Des (30–79%)

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Poor nail formation	Uneori (5–29%)

Laboratory abnormality

Trăsătură	Cât de frecvent apare
High urine protein levels	Uneori (5–29%)

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 MAF și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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