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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 | How often it is seen |
|---|---|
| Feeding difficulties in infancy | Always |
| Abdominal pain | Very often (80–99%) |
| Diarrhea | Very often (80–99%) |
| Gastrointestinal stroma tumor | Very often (80–99%) |
| Nausea and vomiting | Very often (80–99%) |
| Stomach tumor | Very often (80–99%) |
| Accumulation of fluid in the abdomen | Often (30–79%) |
| Constipation | Often (30–79%) |
| Intermittent abdominal pain | Often (30–79%) |
| Intestinal obstruction | Often (30–79%) |
| Nausea | Often (30–79%) |
| Poor swallowing | Often (30–79%) |
| Abdominal mass | Sometimes (5–29%) |
| Abnormality of the liver | Sometimes (5–29%) |
| Anorexia | Sometimes (5–29%) |
| Colon tumor | Sometimes (5–29%) |
| Esophageal tumor | Sometimes (5–29%) |
| Gastrointestinal tract tumor | Sometimes (5–29%) |
| Rectal tumor | Sometimes (5–29%) |
| Small intestine tumor | Sometimes (5–29%) |
Abnormality of the musculoskeletal system
| Trait | How often it is seen |
|---|---|
| Flexed joint that cannot be straightened | Always |
| Generalized decreased muscle tone | Always |
| Low muscle tone | Always |
| Poor head control | Always |
| Involuntary muscle stiffness, contraction, or spasm | Very often (80–99%) |
| Low muscle tone in trunk | Very often (80–99%) |
| Distal muscle wasting | Often (30–79%) |
| Generalized muscle weakness | Often (30–79%) |
| Proximal neurogenic muscle weakness | Often (30–79%) |
| Skeletal myopathy | Often (30–79%) |
| Tired easily | Often (30–79%) |
| Frequent falls | Sometimes (5–29%) |
| Muscle degeneration | Sometimes (5–29%) |
| Spastic paraparesis | Sometimes (5–29%) |
| Spastic tetraparesis | Sometimes (5–29%) |
Laboratory abnormality
| Trait | How often it is seen |
|---|---|
| Higher than normal levels of lactate in blood | Always |
| Increased circulating pyruvate concentration | Always |
| Increased urine alpha-ketoglutarate concentration | Always |
| Elevated urinary dopamine | Often (30–79%) |
| Elevated urinary epinephrine level | Often (30–79%) |
| Elevated urinary norepinephrine level | Often (30–79%) |
| High blood calcium levels | Often (30–79%) |
| High urine protein levels | Often (30–79%) |
| Blood in urine | Sometimes (5–29%) |
| Elevated calcitonin | Sometimes (5–29%) |
| High blood sugar | Sometimes (5–29%) |
| Elevated urinary catecholamines | Not recorded |
Abnormality of the endocrine system
| Trait | How often it is seen |
|---|---|
| Adrenal pheochromocytoma | Very often (80–99%) |
| Extraadrenal pheochromocytoma | Very often (80–99%) |
| Paraganglioma | Very often (80–99%) |
| Pheochromocytoma | Very often (80–99%) |
| Adrenal overactivity | Often (30–79%) |
| Adrenocortical adenoma | Often (30–79%) |
| Paraganglioma of head and neck | Often (30–79%) |
| Chemodectoma | Not recorded |
| Glomus jugular tumor | Not recorded |
Abnormality of the eye
| Trait | How often it is seen |
|---|---|
| Abnormality of the eye | Often (30–79%) |
| Decreased clarity of vision | Often (30–79%) |
| Absent iris | Rarely (1–4%) |
| Blindness | Rarely (1–4%) |
| Involuntary, rapid, rhythmic eye movements | Rarely (1–4%) |
| Paralysis or weakness of muscles within or surrounding outer part of eye | Rarely (1–4%) |
| Pigmentary retinopathy | Rarely (1–4%) |
Abnormality of the integument
| Trait | How often it is seen |
|---|---|
| Flushing | Often (30–79%) |
| Sporadic excessive sweating | Often (30–79%) |
| Irregular hyperpigmentation | Sometimes (5–29%) |
| Paleness | Sometimes (5–29%) |
| Excessive sweating | Not recorded |
| Neurofibroma | Not recorded |
| Patchy darkened skin | Not recorded |
Abnormality of the ear
| Trait | How often it is seen |
|---|---|
| Hearing impairment | Often (30–79%) |
| Paroxysmal vertigo | Often (30–79%) |
| Pulsatile tinnitus | Often (30–79%) |
| Ringing in ears | Often (30–79%) |
| Conductive deafness | Sometimes (5–29%) |
Abnormality of the genitourinary system
| Trait | How often it is seen |
|---|---|
| Glomerular sclerosis | Often (30–79%) |
| Cancer starting in small tubes in kidneys | Sometimes (5–29%) |
| Renal failure | Sometimes (5–29%) |
| Vesicoureteral reflux | Rarely (1–4%) |
Growth abnormality
| Trait | How often it is seen |
|---|---|
| Proportionate short stature | Often (30–79%) |
| Severe short stature | Often (30–79%) |
| Weight loss | Often (30–79%) |
| Prenatal growth deficiency | Sometimes (5–29%) |
Abnormality of blood and blood-forming tissues
| Trait | How often it is seen |
|---|---|
| Gastrointestinal bleeding | Very often (80–99%) |
| Bleeding in brain | Often (30–79%) |
| Low number of red blood cells or hemoglobin | Sometimes (5–29%) |
Abnormality of head or neck
| Trait | How often it is seen |
|---|---|
| Abnormally small head | Sometimes (5–29%) |
| Mild microcephaly | Sometimes (5–29%) |
| Retinal capillary hemangioma | Sometimes (5–29%) |
Abnormality of limbs
| Trait | How often it is seen |
|---|---|
| Inability to straighten knee | Sometimes (5–29%) |
| Lower limb hypertonia | Sometimes (5–29%) |
| Large hands | Not recorded |
Abnormal tissue mass
| Trait | How often it is seen |
|---|---|
| Cancer of connective tissue | Very often (80–99%) |
| Leiomyosarcoma | Very often (80–99%) |
Constitutional symptom
| Trait | How often it is seen |
|---|---|
| Fatigue | Very often (80–99%) |
| Chest pain | Often (30–79%) |
Abnormal cellular phenotype
| Trait | How often it is seen |
|---|---|
| Decreased activity of mitochondrial complex II | Always |
Abnormality of the immune system
| Trait | How often it is seen |
|---|---|
| Skin rash | Sometimes (5–29%) |
Abnormality of the respiratory system
| Trait | How often it is seen |
|---|---|
| Lung infiltrates | Often (30–79%) |
Abnormality of the voice
| Trait | How often it is seen |
|---|---|
| Inability to produce voice sounds | Often (30–79%) |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
Where this comes from
- 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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