Trăsături

Trăsături asociate cu MAN2B1

mannosidase alpha class 2B member 1

Human Phenotype Ontology asociază 130 trăsături cu MAN2B1, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

MAN2B1

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Delayed speech and language development	Foarte des (80–99%)
Intellectual disability	Foarte des (80–99%)
Intellectual disability, mild	Foarte des (80–99%)
Specific learning disability	Foarte des (80–99%)
Ataxia	Des (30–79%)
Decrease in size of the outer layer of the brain due to loss of brain cells	Des (30–79%)
Degeneration of cerebellum	Des (30–79%)
Motor delay	Des (30–79%)
Short attention span	Des (30–79%)
Anxiety	Uneori (5–29%)
Behavioral abnormality	Uneori (5–29%)
Chiari malformation	Uneori (5–29%)
Clumsiness	Uneori (5–29%)
Confusion	Uneori (5–29%)
Corpus callosum atrophy	Uneori (5–29%)
Delusions	Uneori (5–29%)
Depression	Uneori (5–29%)
Drowsiness	Uneori (5–29%)
Hallucinations	Uneori (5–29%)
Subcortical cerebral atrophy	Uneori (5–29%)
Communicating hydrocephalus	Rar (1–4%)
Loss of speech	Rar (1–4%)
Abnormal pyramidal sign	Neînregistrat
Babinski sign	Neînregistrat
Delayed myelination	Neînregistrat
Difficulty articulating speech	Neînregistrat
Gliosis	Neînregistrat
Global developmental delay	Neînregistrat
Inability to coordinate movements when walking	Neînregistrat
Increased reflexes	Neînregistrat
Limb ataxia	Neînregistrat
Spinocerebellar tract disease in lower limbs	Neînregistrat

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Enlarged cisterna magna	Foarte des (80–99%)
Coarse facial features	Des (30–79%)
Facial shape deformation	Des (30–79%)
Abnormal sella turcica morphology	Uneori (5–29%)
Abnormality of the sphenoid sinus	Uneori (5–29%)
Abnormally large tongue	Uneori (5–29%)
Big calvaria	Uneori (5–29%)
Big lower jaw	Uneori (5–29%)
Broad forehead	Uneori (5–29%)
Broad head shape	Uneori (5–29%)
Decreased facial muscle tone	Uneori (5–29%)
Deformity of the skull	Uneori (5–29%)
Depressed nasal bridge	Uneori (5–29%)
Enlargement of skull bones	Uneori (5–29%)
Flat face	Uneori (5–29%)
Highly arched eyebrow	Uneori (5–29%)
Increased thickness of skull cap	Uneori (5–29%)
Prominent forehead	Uneori (5–29%)
Short neck	Uneori (5–29%)
Widely spaced teeth	Uneori (5–29%)
Eye folds	Neînregistrat
Flat back of skull	Neînregistrat
Flat nose	Neînregistrat
Frontal bossing	Neînregistrat
Gum enlargement	Neînregistrat
Low frontal hairline	Neînregistrat
Midface retrusion	Neînregistrat
Thick eyebrow	Neînregistrat
Zygomatic flattening	Neînregistrat

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Abnormally shaped skeletal	Foarte des (80–99%)
Dysostosis multiplex	Foarte des (80–99%)
Low muscle tone	Des (30–79%)
Muscle tissue disease	Des (30–79%)
Breakdown of bone	Uneori (5–29%)
Death of bone due to decreased blood supply	Uneori (5–29%)
Double-Jointed	Uneori (5–29%)
Flattened vertebrae	Uneori (5–29%)
Funnel chest	Uneori (5–29%)
Hypoplastic inferior ilia	Uneori (5–29%)
Joint stiffness	Uneori (5–29%)
Low muscle tone in trunk	Uneori (5–29%)
Osteopenia	Uneori (5–29%)
Pigeon chest	Uneori (5–29%)
Spastic paraplegia	Uneori (5–29%)
Thickened ribs	Uneori (5–29%)
Abnormality of the rib cage	Neînregistrat
Displacement of one backbone compared to another	Neînregistrat
Generalized decreased muscle tone	Neînregistrat
Increased vertebral height	Neînregistrat
Involuntary muscle stiffness, contraction, or spasm	Neînregistrat
Thoracolumbar kyphosis	Neînregistrat

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Close sighted	Des (30–79%)
Clouding of the lens of the eye	Des (30–79%)
Cross-eyed	Des (30–79%)
Farsightedness	Des (30–79%)
Wide-set eyes	Des (30–79%)
Astigmatism	Uneori (5–29%)
Bulging eye	Uneori (5–29%)
Corneal opacity	Uneori (5–29%)
Optic disc pallor	Uneori (5–29%)
Impaired smooth pursuit	Neînregistrat
Involuntary, rapid, rhythmic eye movements	Neînregistrat
Retina degeneration	Neînregistrat

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Bilateral coxa valga	Uneori (5–29%)
Club foot on both sides	Uneori (5–29%)
Cortical thickening of long bone diaphyses	Uneori (5–29%)
Knock knees	Uneori (5–29%)
Talipes valgus	Uneori (5–29%)
Bowed thighbone	Neînregistrat

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Enlarged liver and spleen	Des (30–79%)
Mitral regurgitation	Uneori (5–29%)
Aortic regurgitation	Rar (1–4%)
Increased spleen size	Neînregistrat

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Recurrent gastroenteritis	Des (30–79%)
Umbilical hernia	Uneori (5–29%)
Enlarged liver	Neînregistrat
Inguinal hernia	Neînregistrat

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Middle ear infection	Foarte des (80–99%)
Mixed hearing impairment	Des (30–79%)
Sensorineural hearing impairment	Uneori (5–29%)
Large ears	Neînregistrat

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Decreased immune function	Foarte des (80–99%)
Recurrent infections	Foarte des (80–99%)
Pneumonia	Des (30–79%)
Recurrent bacterial infections	Neînregistrat

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Decreased circulating alpha-mannosidase activity	Întotdeauna
Abnormal circulating enzyme concentration or activity	Foarte des (80–99%)
Oligosacchariduria	Foarte des (80–99%)
Reduced leukocyte alpha-mannosidase activity	Neînregistrat

Abnormality of blood and blood-forming tissues

Trăsătură	Cât de frecvent apare
Low blood cell count	Uneori (5–29%)
Vacuolated lymphocytes	Neînregistrat

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Soft skin	Uneori (5–29%)
Excessive hair growth	Neînregistrat

Growth abnormality

Trăsătură	Cât de frecvent apare
Disproportionate tall stature	Uneori (5–29%)
Growth delay	Neînregistrat

Abnormal cellular phenotype

Trăsătură	Cât de frecvent apare
Decreased circulating antibody level	Neînregistrat

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Frequent urinary tract infections	Rar (1–4%)

Constitutional symptom

Trăsătură	Cât de frecvent apare
Lack of energy and strength	Des (30–79%)

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 MAN2B1 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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