Trăsături

Trăsături asociate cu MMACHC

metabolism of cobalamin associated C

Human Phenotype Ontology asociază 105 trăsături cu MMACHC, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

MMACHC

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Intellectual disability	Foarte des (80–99%)
Abnormal speech pattern	Uneori (5–29%)
Abnormality of the nervous system	Uneori (5–29%)
Ataxia	Uneori (5–29%)
Behavioral abnormality	Uneori (5–29%)
Degeneration of cerebrum	Uneori (5–29%)
Degeneration of the spinal cord	Uneori (5–29%)
Encephalopathy	Uneori (5–29%)
Epilepsy	Uneori (5–29%)
Hallucinations of sound	Uneori (5–29%)
Impaired executive functioning	Uneori (5–29%)
Infantile spasms	Uneori (5–29%)
Lethargy	Uneori (5–29%)
Leukoencephalopathy	Uneori (5–29%)
Memory impairment	Uneori (5–29%)
Mental deterioration	Uneori (5–29%)
Neurodevelopmental delay	Uneori (5–29%)
Peripheral demyelination	Uneori (5–29%)
Periventricular white matter hyperintensities	Uneori (5–29%)
Personality changes	Uneori (5–29%)
Poor fine motor coordination	Uneori (5–29%)
Abnormal shape of brain	Rar (1–4%)
Delirium	Rar (1–4%)
Dementia	Rar (1–4%)
Loss of developmental milestones	Rar (1–4%)
Psychosis	Rar (1–4%)
Severe demyelination of the white matter	Rar (1–4%)
Too much cerebrospinal fluid in the brain	Rar (1–4%)
Abnormality of extrapyramidal motor function	Neînregistrat
Confusion	Neînregistrat
Decrease in size of the outer layer of the brain due to loss of brain cells	Neînregistrat
Global developmental delay	Neînregistrat
Tremor	Neînregistrat

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Decreased methionine synthase activity	Întotdeauna
Decreased methylmalonyl-CoA mutase activity	Întotdeauna
Elevated blood homocystine	Foarte des (80–99%)
Elevated circulating palmitoleylcarnitine concentration	Foarte des (80–99%)
Methylmalonic acidemia	Foarte des (80–99%)
Methylmalonic aciduria	Foarte des (80–99%)
Decreased plasma methionine	Des (30–79%)
Dehydration	Uneori (5–29%)
High blood ammonia levels	Uneori (5–29%)
Hydrops fetalis	Uneori (5–29%)
Hypothermia	Uneori (5–29%)
Ketonuria	Uneori (5–29%)
Low blood sugar	Uneori (5–29%)
Metabolic acidosis	Rar (1–4%)
Blood in urine	Neînregistrat
Decreased circulating adenosylcobalamin concentration	Neînregistrat
Decreased circulating methylcobalamin concentration	Neînregistrat
High blood cystathionine levels	Neînregistrat
High urine cystathionine levels	Neînregistrat
High urine homocystine levels	Neînregistrat
High urine protein levels	Neînregistrat

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Elevated heart rate	Des (30–79%)
Heart stops beating	Des (30–79%)
Increased blood pressure in blood vessels of lungs	Des (30–79%)
Low blood pressure	Des (30–79%)
Slow heartbeats	Des (30–79%)
Abnormality of the heart	Uneori (5–29%)
Stretched and thinned heart muscle	Uneori (5–29%)
Blood clot in artery of lung	Rar (1–4%)
Stroke	Rar (1–4%)

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Abnormal macular pigmentation	Des (30–79%)
Involuntary, rapid, rhythmic eye movements	Des (30–79%)
Macular pseudocoloboma	Des (30–79%)
Optic atrophy	Des (30–79%)
Pigmentary retinopathy	Des (30–79%)
Retina degeneration	Des (30–79%)
Visual impairment	Des (30–79%)
Decreased clarity of vision	Neînregistrat

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Abnormally small head	Des (30–79%)
Inflammation of the mouth	Des (30–79%)
Inflammation of the tongue	Des (30–79%)
Abnormal facial shape	Rar (1–4%)
High forehead	Rar (1–4%)
Long face	Rar (1–4%)
Smooth philtrum	Rar (1–4%)

Abnormality of blood and blood-forming tissues

Trăsătură	Cât de frecvent apare
Megaloblastic anemia	Foarte des (80–99%)
Low platelet count	Des (30–79%)
Blood clot in a deep vein	Uneori (5–29%)
Low blood neutrophil count	Uneori (5–29%)
Subdural hemorrhage	Uneori (5–29%)
Thromboembolism	Uneori (5–29%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Enlarged liver	Des (30–79%)
Feeding difficulties	Des (30–79%)
Vomiting	Des (30–79%)
Jaundice	Uneori (5–29%)
Feeding difficulties in infancy	Neînregistrat

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Acute kidney injury	Des (30–79%)
Glomerulopathy	Des (30–79%)
Renal failure	Uneori (5–29%)
Hemolytic-uremic syndrome	Rar (1–4%)
Kidney damage	Neînregistrat

Growth abnormality

Trăsătură	Cât de frecvent apare
Faltering weight	Des (30–79%)
Growth delay	Des (30–79%)
Small for gestational age	Des (30–79%)
Prenatal growth deficiency	Uneori (5–29%)

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Low muscle tone in trunk	Des (30–79%)
Low muscle tone	Uneori (5–29%)
Generalized decreased muscle tone	Neînregistrat

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Low-set ears	Rar (1–4%)
Large ears	Neînregistrat

Abnormality of the integument

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

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Breathing difficulties	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 MMACHC și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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