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Traits
Traits linked to SDHB
succinate dehydrogenase complex iron sulfur subunit B
The Human Phenotype Ontology links 161 traits to SDHB, by body system: features seen in people with one of the gene's rare conditions.
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Abnormality of the nervous system
Abnormality of the cardiovascular system
Abnormality of the digestive system
| Trait | Hvor ofte det ses |
|---|---|
| Feeding difficulties in infancy | Altid |
| Abdominal pain | Meget ofte (80–99 %) |
| Diarrhea | Meget ofte (80–99 %) |
| Gastrointestinal stroma tumor | Meget ofte (80–99 %) |
| Nausea and vomiting | Meget ofte (80–99 %) |
| Stomach tumor | Meget ofte (80–99 %) |
| Accumulation of fluid in the abdomen | Ofte (30–79 %) |
| Constipation | Ofte (30–79 %) |
| Intermittent abdominal pain | Ofte (30–79 %) |
| Intestinal obstruction | Ofte (30–79 %) |
| Nausea | Ofte (30–79 %) |
| Poor swallowing | Ofte (30–79 %) |
| Abdominal mass | Nogle gange (5–29 %) |
| Abnormality of the liver | Nogle gange (5–29 %) |
| Anorexia | Nogle gange (5–29 %) |
| Colon tumor | Nogle gange (5–29 %) |
| Esophageal tumor | Nogle gange (5–29 %) |
| Gastrointestinal tract tumor | Nogle gange (5–29 %) |
| Rectal tumor | Nogle gange (5–29 %) |
| Small intestine tumor | Nogle gange (5–29 %) |
Abnormality of the musculoskeletal system
| Trait | Hvor ofte det ses |
|---|---|
| Flexed joint that cannot be straightened | Altid |
| Generalized decreased muscle tone | Altid |
| Low muscle tone | Altid |
| Poor head control | Altid |
| Involuntary muscle stiffness, contraction, or spasm | Meget ofte (80–99 %) |
| Low muscle tone in trunk | Meget ofte (80–99 %) |
| Distal muscle wasting | Ofte (30–79 %) |
| Generalized muscle weakness | Ofte (30–79 %) |
| Proximal neurogenic muscle weakness | Ofte (30–79 %) |
| Skeletal myopathy | Ofte (30–79 %) |
| Tired easily | Ofte (30–79 %) |
| Frequent falls | Nogle gange (5–29 %) |
| Muscle degeneration | Nogle gange (5–29 %) |
| Spastic paraparesis | Nogle gange (5–29 %) |
| Spastic tetraparesis | Nogle gange (5–29 %) |
Laboratory abnormality
| Trait | Hvor ofte det ses |
|---|---|
| Higher than normal levels of lactate in blood | Altid |
| Increased circulating pyruvate concentration | Altid |
| Increased urine alpha-ketoglutarate concentration | Altid |
| Elevated urinary dopamine | Ofte (30–79 %) |
| Elevated urinary epinephrine level | Ofte (30–79 %) |
| Elevated urinary norepinephrine level | Ofte (30–79 %) |
| High blood calcium levels | Ofte (30–79 %) |
| High urine protein levels | Ofte (30–79 %) |
| Blood in urine | Nogle gange (5–29 %) |
| Elevated calcitonin | Nogle gange (5–29 %) |
| High blood sugar | Nogle gange (5–29 %) |
| Elevated urinary catecholamines | Ikke registreret |
Abnormality of the endocrine system
| Trait | Hvor ofte det ses |
|---|---|
| Adrenal pheochromocytoma | Meget ofte (80–99 %) |
| Extraadrenal pheochromocytoma | Meget ofte (80–99 %) |
| Paraganglioma | Meget ofte (80–99 %) |
| Pheochromocytoma | Meget ofte (80–99 %) |
| Adrenal overactivity | Ofte (30–79 %) |
| Adrenocortical adenoma | Ofte (30–79 %) |
| Paraganglioma of head and neck | Ofte (30–79 %) |
| Chemodectoma | Ikke registreret |
| Glomus jugular tumor | Ikke registreret |
Abnormality of the eye
| Trait | Hvor ofte det ses |
|---|---|
| Abnormality of the eye | Ofte (30–79 %) |
| Decreased clarity of vision | Ofte (30–79 %) |
| Absent iris | Sjældent (1–4%) |
| Blindness | Sjældent (1–4%) |
| Involuntary, rapid, rhythmic eye movements | Sjældent (1–4%) |
| Paralysis or weakness of muscles within or surrounding outer part of eye | Sjældent (1–4%) |
| Pigmentary retinopathy | Sjældent (1–4%) |
Abnormality of the integument
| Trait | Hvor ofte det ses |
|---|---|
| Flushing | Ofte (30–79 %) |
| Sporadic excessive sweating | Ofte (30–79 %) |
| Irregular hyperpigmentation | Nogle gange (5–29 %) |
| Paleness | Nogle gange (5–29 %) |
| Excessive sweating | Ikke registreret |
| Neurofibroma | Ikke registreret |
| Patchy darkened skin | Ikke registreret |
Abnormality of the ear
| Trait | Hvor ofte det ses |
|---|---|
| Hearing impairment | Ofte (30–79 %) |
| Paroxysmal vertigo | Ofte (30–79 %) |
| Pulsatile tinnitus | Ofte (30–79 %) |
| Ringing in ears | Ofte (30–79 %) |
| Conductive deafness | Nogle gange (5–29 %) |
Abnormality of the genitourinary system
| Trait | Hvor ofte det ses |
|---|---|
| Glomerular sclerosis | Ofte (30–79 %) |
| Cancer starting in small tubes in kidneys | Nogle gange (5–29 %) |
| Renal failure | Nogle gange (5–29 %) |
| Vesicoureteral reflux | Sjældent (1–4%) |
Growth abnormality
| Trait | Hvor ofte det ses |
|---|---|
| Proportionate short stature | Ofte (30–79 %) |
| Severe short stature | Ofte (30–79 %) |
| Weight loss | Ofte (30–79 %) |
| Prenatal growth deficiency | Nogle gange (5–29 %) |
Abnormality of blood and blood-forming tissues
| Trait | Hvor ofte det ses |
|---|---|
| Gastrointestinal bleeding | Meget ofte (80–99 %) |
| Bleeding in brain | Ofte (30–79 %) |
| Low number of red blood cells or hemoglobin | Nogle gange (5–29 %) |
Abnormality of head or neck
| Trait | Hvor ofte det ses |
|---|---|
| Abnormally small head | Nogle gange (5–29 %) |
| Mild microcephaly | Nogle gange (5–29 %) |
| Retinal capillary hemangioma | Nogle gange (5–29 %) |
Abnormality of limbs
| Trait | Hvor ofte det ses |
|---|---|
| Inability to straighten knee | Nogle gange (5–29 %) |
| Lower limb hypertonia | Nogle gange (5–29 %) |
| Large hands | Ikke registreret |
Abnormal tissue mass
| Trait | Hvor ofte det ses |
|---|---|
| Cancer of connective tissue | Meget ofte (80–99 %) |
| Leiomyosarcoma | Meget ofte (80–99 %) |
Constitutional symptom
| Trait | Hvor ofte det ses |
|---|---|
| Fatigue | Meget ofte (80–99 %) |
| Chest pain | Ofte (30–79 %) |
Abnormal cellular phenotype
| Trait | Hvor ofte det ses |
|---|---|
| Decreased activity of mitochondrial complex II | Altid |
Abnormality of the immune system
| Trait | Hvor ofte det ses |
|---|---|
| Skin rash | Nogle gange (5–29 %) |
Abnormality of the respiratory system
| Trait | Hvor ofte det ses |
|---|---|
| Lung infiltrates | Ofte (30–79 %) |
Abnormality of the voice
| Trait | Hvor ofte det ses |
|---|---|
| Inability to produce voice sounds | Ofte (30–79 %) |
Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.
Hvor oplysningerne kommer fra
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to SDHB and how often each is seen. Find out more at hpo.jax.org.
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