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Tunnused
Geeniga SDHD seotud tunnused
succinate dehydrogenase complex subunit D
Inimese fenotüübi ontoloogia seostab geeniga SDHD 164 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.
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Logi sisseKüsiSekveneeri oma genoom↗
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Logi sisseKüsiSekveneeri oma genoom↗
Abnormality of the cardiovascular system
Abnormality of the nervous system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Ataxia | Alati |
| Dystonia | Alati |
| Epilepsy | Alati |
| Global developmental delay | Alati |
| Jerking | Alati |
| Loss of developmental milestones | Alati |
| Reduced brain N-acetyl aspartate level by MRS | Alati |
| Babinski sign | Sageli (30–79%) |
| Brisk knee jerk | Sageli (30–79%) |
| Cranial nerve paralysis | Sageli (30–79%) |
| Episodic paroxysmal anxiety | Sageli (30–79%) |
| Generalized myoclonic seizure | Sageli (30–79%) |
| Hyperactive deep tendon reflexes | Sageli (30–79%) |
| Motor delay | Sageli (30–79%) |
| Progressive degeneration of movement | Sageli (30–79%) |
| Progressive psychomotor deterioration | Sageli (30–79%) |
| Recurrent paroxysmal headache | Sageli (30–79%) |
| Upper limb hyperreflexia | Sageli (30–79%) |
| Communication delay | Mõnikord (5–29%) |
| Cranial nerve compression | Mõnikord (5–29%) |
| Focal myoclonic seizure | Mõnikord (5–29%) |
| Inability to move vocal cords | Mõnikord (5–29%) |
| Irritability | Mõnikord (5–29%) |
| Moderate global developmental delay | Mõnikord (5–29%) |
| Panic attack | Mõnikord (5–29%) |
| Tremor | Mõnikord (5–29%) |
| Dementia | Harva (1–4%) |
| Loss of ability to walk | Harva (1–4%) |
Abnormality of the digestive system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Enlarged liver | Alati |
| Feeding difficulties | Alati |
| Gastrointestinal stroma tumor | Väga sageli (80–99%) |
| Abdominal pain | Sageli (30–79%) |
| Intermittent abdominal pain | Sageli (30–79%) |
| Intestinal carcinoid | Sageli (30–79%) |
| Intestinal obstruction | Sageli (30–79%) |
| Nausea | Sageli (30–79%) |
| Poor swallowing | Sageli (30–79%) |
| Protracted diarrhea | Sageli (30–79%) |
| Small intestine carcinoid | Sageli (30–79%) |
| Abdominal mass | Mõnikord (5–29%) |
| Constipation | Mõnikord (5–29%) |
| Feeding difficulties in infancy | Mõnikord (5–29%) |
| Nausea and vomiting | Mõnikord (5–29%) |
| Hepatic necrosis | Harva (1–4%) |
| Lack of bowel sounds | Harva (1–4%) |
| Gastrointestinal tract tumor | Pole registreeritud |
Abnormality of the musculoskeletal system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Low muscle tone | Alati |
| Distal muscle wasting | Sageli (30–79%) |
| Generalized muscle weakness | Sageli (30–79%) |
| Involuntary muscle stiffness, contraction, or spasm | Sageli (30–79%) |
| Proximal neurogenic muscle weakness | Sageli (30–79%) |
| Skeletal myopathy | Sageli (30–79%) |
| Tired easily | Sageli (30–79%) |
| Frequent falls | Mõnikord (5–29%) |
| Generalized decreased muscle tone | Mõnikord (5–29%) |
| Muscle degeneration | Mõnikord (5–29%) |
| Spastic paraparesis | Mõnikord (5–29%) |
| Spastic tetraparesis | Mõnikord (5–29%) |
| Muscle tissue disease | Harva (1–4%) |
| Poor head control | Harva (1–4%) |
Abnormality of the endocrine system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Carcinoid tumor | Alati |
| 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%) |
| Increased serum serotonin | Mõnikord (5–29%) |
| Pulmonary carcinoid tumor | Mõnikord (5–29%) |
| Atypical pulmonary carcinoid tumor | Harva (1–4%) |
| Chemodectoma | Pole registreeritud |
| Elevated circulating catecholamine level | Pole registreeritud |
| Glomus jugular tumor | Pole registreeritud |
| Glomus tympanicum paraganglioma | Pole registreeritud |
| Vagal paraganglioma | Pole registreeritud |
Laboratory abnormality
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| High urine lactic acid levels | Alati |
| Increased lactate in body | Alati |
| Ketonuria | 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%) |
| Abnormal circulating B-type natriuretic peptide concentration | Mõnikord (5–29%) |
| Blood in urine | Mõnikord (5–29%) |
| Elevated calcitonin | Mõnikord (5–29%) |
| High blood sugar | Mõnikord (5–29%) |
| High liver enzymes | Mõnikord (5–29%) |
Abnormality of the eye
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Optic disc pallor | Alati |
| Pendular nystagmus | Alati |
| Visual impairment | Alati |
| Abnormality of the eye | Sageli (30–79%) |
| Decreased clarity of vision | Sageli (30–79%) |
| Increased tears | Mõnikord (5–29%) |
| Absent iris | Harva (1–4%) |
| Blindness | Harva (1–4%) |
| Involuntary, rapid, rhythmic eye movements | Harva (1–4%) |
| Paralysis or weakness of muscles within or surrounding outer part of eye | Harva (1–4%) |
| Pigmentary retinopathy | Harva (1–4%) |
Abnormality of the ear
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Hearing impairment | Sageli (30–79%) |
| Paroxysmal vertigo | Sageli (30–79%) |
| Pulsatile tinnitus | Sageli (30–79%) |
| Ringing in ears | Sageli (30–79%) |
| Conductive deafness | Mõnikord (5–29%) |
Abnormality of the integument
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Erythematous plaque | Sageli (30–79%) |
| Flushing | Sageli (30–79%) |
| Sporadic excessive sweating | Sageli (30–79%) |
| Paleness | Mõnikord (5–29%) |
| Excessive sweating | Pole registreeritud |
Abnormality of the genitourinary system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Glomerular sclerosis | Sageli (30–79%) |
| Cancer starting in small tubes in kidneys | Mõnikord (5–29%) |
| Renal failure | Mõnikord (5–29%) |
| Vesicoureteral reflux | Harva (1–4%) |
Growth abnormality
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Proportionate short stature | Sageli (30–79%) |
| Severe short stature | Sageli (30–79%) |
| Weight loss | Sageli (30–79%) |
| Prenatal growth deficiency | Mõnikord (5–29%) |
Abnormality of head or neck
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Development of small head that was not present at birth | Alati |
| Mild microcephaly | Mõnikord (5–29%) |
| Retinal capillary hemangioma | Mõnikord (5–29%) |
Abnormality of the voice
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Inability to produce voice sounds | Sageli (30–79%) |
| Hoarse voice | Pole registreeritud |
| Loss of voice | Pole registreeritud |
Constitutional symptom
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Chest pain | Sageli (30–79%) |
| Fatigue | Sageli (30–79%) |
| Night sweats | Sageli (30–79%) |
Abnormality of blood and blood-forming tissues
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Bleeding in brain | Sageli (30–79%) |
| Gastrointestinal bleeding | Sageli (30–79%) |
Abnormality of limbs
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Inability to straighten knee | Mõnikord (5–29%) |
| Lower limb hypertonia | Mõnikord (5–29%) |
Abnormality of the immune system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Aspiration pneumonia | Alati |
| Asthma | Mõnikord (5–29%) |
Abnormality of the respiratory system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Bronchoconstriction | Mõnikord (5–29%) |
| Runny Nose | Mõnikord (5–29%) |
Abnormal cellular phenotype
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Decreased activity of mitochondrial complex II | Alati |
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 SDHD seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.
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