AtlasKellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
Tunnused
Geeniga FH seotud tunnused
fumarate hydratase
Inimese fenotüübi ontoloogia seostab geeniga FH 133 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.
AtlasKellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
AtlasKellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
Abnormality of the nervous system
Laboratory abnormality
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Decreased fumarate hydratase activity | Alati |
| Elevated urine fumaric acid level | Alati |
| Increased urine succinate level | Alati |
| Elevated urinary dopamine | Sageli (30–79%) |
| Elevated urinary epinephrine level | Sageli (30–79%) |
| Elevated urinary norepinephrine level | Sageli (30–79%) |
| High blood calcium levels | Sageli (30–79%) |
| High urine protein levels | Sageli (30–79%) |
| Metabolic acidosis | Sageli (30–79%) |
| Blood in urine | Mõnikord (5–29%) |
| Elevated calcitonin | Mõnikord (5–29%) |
| High blood sugar | Mõnikord (5–29%) |
| Increased urine alpha-ketoglutarate concentration | Mõnikord (5–29%) |
| High blood ammonia levels | Harva (1–4%) |
| Increased lactate in body | Harva (1–4%) |
| Low blood sugar | Harva (1–4%) |
| Abnormal urinary amino-acid findings | Pole registreeritud |
| High blood bilirubin levels | Pole registreeritud |
Abnormality of the cardiovascular system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Decrease in blood pressure upon standing up | Sageli (30–79%) |
| Fainting spell | Sageli (30–79%) |
| High blood pressure | Sageli (30–79%) |
| Hypertension associated with pheochromocytoma | Sageli (30–79%) |
| Hypertensive retinopathy | Sageli (30–79%) |
| Palpitations | Sageli (30–79%) |
| Perimembranous ventricular septal defect | Sageli (30–79%) |
| Positive regitine blocking test | Sageli (30–79%) |
| Sinus tachycardia | Sageli (30–79%) |
| Arachnoid hemangiomatosis | Mõnikord (5–29%) |
| Cardiac failure | Mõnikord (5–29%) |
| Disease of the heart muscle | Mõnikord (5–29%) |
| Hypertensive crisis | Mõnikord (5–29%) |
| Inflammation of heart muscle | Mõnikord (5–29%) |
Abnormality of the digestive system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Impaired release of bile from liver | Alati |
| Liver failure | Alati |
| Accumulation of fluid in the abdomen | Sageli (30–79%) |
| Feeding difficulties in infancy | Sageli (30–79%) |
| Intermittent abdominal pain | Sageli (30–79%) |
| Nausea | Sageli (30–79%) |
| Necrotizing enterocolitis | Sageli (30–79%) |
| Abdominal mass | Mõnikord (5–29%) |
| Barrett esophagus | Mõnikord (5–29%) |
| Constipation | Mõnikord (5–29%) |
| Enlarged liver | Mõnikord (5–29%) |
| Esophageal tumor | Mõnikord (5–29%) |
| Vomiting | Mõnikord (5–29%) |
Abnormality of head or neck
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Depressed nasal bridge | Sageli (30–79%) |
| Frontal bossing | Sageli (30–79%) |
| Yellowing of the whites of the eyes | Sageli (30–79%) |
| Abnormally small head | Mõnikord (5–29%) |
| Cleft nostril | Mõnikord (5–29%) |
| Nasal tip, upturned | Mõnikord (5–29%) |
| Retinal capillary hemangioma | Mõnikord (5–29%) |
| Tented mouth | Mõnikord (5–29%) |
| High palate | Pole registreeritud |
| Relatively large head | Pole registreeritud |
Abnormality of the integument
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Cutaneous leiomyoma | Väga sageli (80–99%) |
| Multiple cutaneous leiomyomas | Väga sageli (80–99%) |
| Flushing | Sageli (30–79%) |
| Itching | Sageli (30–79%) |
| Sporadic excessive sweating | Sageli (30–79%) |
| Cutaneous leiomyosarcoma | Mõnikord (5–29%) |
| Paleness | Mõnikord (5–29%) |
| Reduced fat tissue below the skin | Pole registreeritud |
Abnormality of the genitourinary system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Uterine leiomyoma | Alati |
| Cancer starting in small tubes in kidneys | Sageli (30–79%) |
| Glomerular sclerosis | Sageli (30–79%) |
| Papillary renal cell carcinoma type 2 | Mõnikord (5–29%) |
| Renal failure | Mõnikord (5–29%) |
| Uterine leiomyosarcoma | Mõnikord (5–29%) |
| Vaginal tumor | Mõnikord (5–29%) |
Abnormality of the eye
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Wide-set eyes | Sageli (30–79%) |
| Cerebral visual impairment | Mõnikord (5–29%) |
| Clouding of the lens of the eye | Mõnikord (5–29%) |
| Optic atrophy | Mõnikord (5–29%) |
| Absent iris | Harva (1–4%) |
| Visual impairment | Pole registreeritud |
Abnormality of prenatal development or birth
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| High levels of amniotic fluid | Alati |
| Bilateral fetal pyelectasis | Sageli (30–79%) |
| Premature birth | Sageli (30–79%) |
| Low levels of amniotic fluid | Mõnikord (5–29%) |
Abnormality of the endocrine system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Adrenal pheochromocytoma | Väga sageli (80–99%) |
| Extraadrenal pheochromocytoma | Väga sageli (80–99%) |
| Paraganglioma | Väga sageli (80–99%) |
| Paraganglioma of head and neck | Sageli (30–79%) |
Abnormality of the musculoskeletal system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Muscular abnormality | Väga sageli (80–99%) |
| Low muscle tone | Sageli (30–79%) |
| Poor head control | Mõnikord (5–29%) |
| Generalized decreased muscle tone | Pole registreeritud |
Growth abnormality
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Faltering weight in infancy | Sageli (30–79%) |
| Weight loss | Sageli (30–79%) |
| Prenatal growth deficiency | Mõnikord (5–29%) |
| Faltering weight | Pole registreeritud |
Abnormality of blood and blood-forming tissues
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Bleeding in brain | Sageli (30–79%) |
| Increased red blood cells | Mõnikord (5–29%) |
| Low blood neutrophil count | Mõnikord (5–29%) |
Abnormality of the ear
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Paroxysmal vertigo | Sageli (30–79%) |
| Pulsatile tinnitus | Sageli (30–79%) |
| Conductive deafness | Mõnikord (5–29%) |
Constitutional symptom
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Chest pain | Sageli (30–79%) |
| Fatigue | Sageli (30–79%) |
Abnormal cellular phenotype
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Mitochondrial swelling | Alati |
Abnormality of the voice
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Inability to produce voice sounds | Sageli (30–79%) |
Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.
Allikas
- Inimese fenotüübi ontoloogia, versioon 2026-09-01: geeniga FH seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.
AtlasKellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
Üks test. Vastused kogu eluks.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast