Trăsături

Trăsături asociate cu FH

fumarate hydratase

Human Phenotype Ontology asociază 133 trăsături cu FH, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Agenesis of corpus callosum	Întotdeauna
Ventriculomegaly	Întotdeauna
Degeneration of cerebrum	Des (30–79%)
Encephalopathy	Des (30–79%)
Epilepsy	Des (30–79%)
Episodic paroxysmal anxiety	Des (30–79%)
Fewer or absent grooves in brain	Des (30–79%)
Global developmental delay	Des (30–79%)
Lethargy	Des (30–79%)
Recurrent paroxysmal headache	Des (30–79%)
Abnormal cerebral white matter morphology	Uneori (5–29%)
Abnormal corpus callosum morphology	Uneori (5–29%)
Bilateral polymicrogyria	Uneori (5–29%)
Cerebral hypomyelination	Uneori (5–29%)
Coma	Uneori (5–29%)
Cranial nerve compression	Uneori (5–29%)
Delayed myelination	Uneori (5–29%)
Dystonia	Uneori (5–29%)
Hypsarrhythmia	Uneori (5–29%)
Inability to move vocal cords	Uneori (5–29%)
Infantile spasms	Uneori (5–29%)
Panic attack	Uneori (5–29%)
Poor eye contact	Uneori (5–29%)
Tremor	Uneori (5–29%)
Abnormal speech pattern	Neînregistrat
Choroid plexus cyst	Neînregistrat
IQ less than 20	Neînregistrat
More grooves in brain	Neînregistrat
Open operculum	Neînregistrat
Repeated seizures without recovery between them	Neînregistrat
Small brainstem	Neînregistrat

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Decreased fumarate hydratase activity	Întotdeauna
Elevated urine fumaric acid level	Întotdeauna
Increased urine succinate level	Întotdeauna
Elevated urinary dopamine	Des (30–79%)
Elevated urinary epinephrine level	Des (30–79%)
Elevated urinary norepinephrine level	Des (30–79%)
High blood calcium levels	Des (30–79%)
High urine protein levels	Des (30–79%)
Metabolic acidosis	Des (30–79%)
Blood in urine	Uneori (5–29%)
Elevated calcitonin	Uneori (5–29%)
High blood sugar	Uneori (5–29%)
Increased urine alpha-ketoglutarate concentration	Uneori (5–29%)
High blood ammonia levels	Rar (1–4%)
Increased lactate in body	Rar (1–4%)
Low blood sugar	Rar (1–4%)
Abnormal urinary amino-acid findings	Neînregistrat
High blood bilirubin levels	Neînregistrat

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Decrease in blood pressure upon standing up	Des (30–79%)
Fainting spell	Des (30–79%)
High blood pressure	Des (30–79%)
Hypertension associated with pheochromocytoma	Des (30–79%)
Hypertensive retinopathy	Des (30–79%)
Palpitations	Des (30–79%)
Perimembranous ventricular septal defect	Des (30–79%)
Positive regitine blocking test	Des (30–79%)
Sinus tachycardia	Des (30–79%)
Arachnoid hemangiomatosis	Uneori (5–29%)
Cardiac failure	Uneori (5–29%)
Disease of the heart muscle	Uneori (5–29%)
Hypertensive crisis	Uneori (5–29%)
Inflammation of heart muscle	Uneori (5–29%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Impaired release of bile from liver	Întotdeauna
Liver failure	Întotdeauna
Accumulation of fluid in the abdomen	Des (30–79%)
Feeding difficulties in infancy	Des (30–79%)
Intermittent abdominal pain	Des (30–79%)
Nausea	Des (30–79%)
Necrotizing enterocolitis	Des (30–79%)
Abdominal mass	Uneori (5–29%)
Barrett esophagus	Uneori (5–29%)
Constipation	Uneori (5–29%)
Enlarged liver	Uneori (5–29%)
Esophageal tumor	Uneori (5–29%)
Vomiting	Uneori (5–29%)

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Depressed nasal bridge	Des (30–79%)
Frontal bossing	Des (30–79%)
Yellowing of the whites of the eyes	Des (30–79%)
Abnormally small head	Uneori (5–29%)
Cleft nostril	Uneori (5–29%)
Nasal tip, upturned	Uneori (5–29%)
Retinal capillary hemangioma	Uneori (5–29%)
Tented mouth	Uneori (5–29%)
High palate	Neînregistrat
Relatively large head	Neînregistrat

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Cutaneous leiomyoma	Foarte des (80–99%)
Multiple cutaneous leiomyomas	Foarte des (80–99%)
Flushing	Des (30–79%)
Itching	Des (30–79%)
Sporadic excessive sweating	Des (30–79%)
Cutaneous leiomyosarcoma	Uneori (5–29%)
Paleness	Uneori (5–29%)
Reduced fat tissue below the skin	Neînregistrat

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Uterine leiomyoma	Întotdeauna
Cancer starting in small tubes in kidneys	Des (30–79%)
Glomerular sclerosis	Des (30–79%)
Papillary renal cell carcinoma type 2	Uneori (5–29%)
Renal failure	Uneori (5–29%)
Uterine leiomyosarcoma	Uneori (5–29%)
Vaginal tumor	Uneori (5–29%)

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Wide-set eyes	Des (30–79%)
Cerebral visual impairment	Uneori (5–29%)
Clouding of the lens of the eye	Uneori (5–29%)
Optic atrophy	Uneori (5–29%)
Absent iris	Rar (1–4%)
Visual impairment	Neînregistrat

Abnormality of prenatal development or birth

Trăsătură	Cât de frecvent apare
High levels of amniotic fluid	Întotdeauna
Bilateral fetal pyelectasis	Des (30–79%)
Premature birth	Des (30–79%)
Low levels of amniotic fluid	Uneori (5–29%)

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Adrenal pheochromocytoma	Foarte des (80–99%)
Extraadrenal pheochromocytoma	Foarte des (80–99%)
Paraganglioma	Foarte des (80–99%)
Paraganglioma of head and neck	Des (30–79%)

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Muscular abnormality	Foarte des (80–99%)
Low muscle tone	Des (30–79%)
Poor head control	Uneori (5–29%)
Generalized decreased muscle tone	Neînregistrat

Growth abnormality

Trăsătură	Cât de frecvent apare
Faltering weight in infancy	Des (30–79%)
Weight loss	Des (30–79%)
Prenatal growth deficiency	Uneori (5–29%)
Faltering weight	Neînregistrat

Abnormality of blood and blood-forming tissues

Trăsătură	Cât de frecvent apare
Bleeding in brain	Des (30–79%)
Increased red blood cells	Uneori (5–29%)
Low blood neutrophil count	Uneori (5–29%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Paroxysmal vertigo	Des (30–79%)
Pulsatile tinnitus	Des (30–79%)
Conductive deafness	Uneori (5–29%)

Constitutional symptom

Trăsătură	Cât de frecvent apare
Chest pain	Des (30–79%)
Fatigue	Des (30–79%)

Abnormal cellular phenotype

Trăsătură	Cât de frecvent apare
Mitochondrial swelling	Întotdeauna

Abnormality of the voice

Trăsătură	Cât de frecvent apare
Inability to produce voice sounds	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 FH și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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