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Traits
Traits linked to SDHA
succinate dehydrogenase complex flavoprotein subunit A
The Human Phenotype Ontology links 190 traits to SDHA, 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 |
|---|---|
| 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%) |
| Feeding difficulties in infancy | 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 |
|---|---|
| Distal muscle wasting | Often (30–79%) |
| Generalized muscle weakness | Often (30–79%) |
| Involuntary muscle stiffness, contraction, or spasm | Often (30–79%) |
| Proximal neurogenic muscle weakness | Often (30–79%) |
| Skeletal myopathy | Often (30–79%) |
| Tired easily | Often (30–79%) |
| EMG abnormality | Sometimes (5–29%) |
| Frequent falls | Sometimes (5–29%) |
| Generalized decreased muscle tone | Sometimes (5–29%) |
| Loss of fat tissue in localized area | Sometimes (5–29%) |
| Muscle degeneration | Sometimes (5–29%) |
| Muscle tissue disease | Sometimes (5–29%) |
| Spastic paraparesis | Sometimes (5–29%) |
| Spastic tetraparesis | Sometimes (5–29%) |
| Poor head control | Rarely (1–4%) |
| Flexed joint that cannot be straightened | Not recorded |
| Low muscle tone, in neonatal onset | Not recorded |
| Muscle weakness | Not recorded |
| Ragged-red muscle fibers | Not recorded |
Laboratory abnormality
| Trait | How often it is seen |
|---|---|
| 3-Methylglutaconic aciduria | Always |
| Elevated lactate:pyruvate ratio | Always |
| Higher than normal levels of lactate in blood | Always |
| Increased hepatic glycogen content | Always |
| Elevated urinary dopamine | Often (30–79%) |
| Elevated urinary epinephrine level | Often (30–79%) |
| Elevated urinary norepinephrine level | Often (30–79%) |
| Fluid retention | 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%) |
| Increased intramyocellular lipid droplets | Not recorded |
| Stress/infection-induced lactic acidosis | Not recorded |
Abnormality of the eye
| Trait | How often it is seen |
|---|---|
| Double vision | Always |
| Loss of peripheral vision | Always |
| Optic atrophy | Always |
| Visual impairment | Always |
| Abnormality of the eye | Often (30–79%) |
| Decreased clarity of vision | Often (30–79%) |
| Gaze-evoked nystagmus | Often (30–79%) |
| Involuntary, rapid, rhythmic eye movements | Often (30–79%) |
| Absent iris | Rarely (1–4%) |
| Blindness | Rarely (1–4%) |
| Paralysis or weakness of muscles within or surrounding outer part of eye | Rarely (1–4%) |
| Pigmentary retinopathy | Rarely (1–4%) |
| Drooping upper eyelid | Not recorded |
| Eye muscle paralysis | Not recorded |
Abnormality of the ear
| Trait | How often it is seen |
|---|---|
| Dizziness | Always |
| 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%) |
| Sensorineural hearing impairment | Sometimes (5–29%) |
Abnormality of the endocrine system
| Trait | How often it is seen |
|---|---|
| Paraganglioma | Always |
| Adrenal pheochromocytoma | Very often (80–99%) |
| Extraadrenal pheochromocytoma | 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%) |
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%) |
| Short stature | Not recorded |
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%) |
| Thromboembolic stroke | 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%) |
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%) |
Abnormality of the respiratory system
| Trait | How often it is seen |
|---|---|
| Breathing difficulties | Very often (80–99%) |
| Exertional breathlessness | Often (30–79%) |
| Lung infiltrates | Often (30–79%) |
| Orthopnea | Often (30–79%) |
Constitutional symptom
| Trait | How often it is seen |
|---|---|
| Fatigue | Very often (80–99%) |
| Chest pain | Often (30–79%) |
| Muscle ache | Often (30–79%) |
| Decreased ability to exercise | Not recorded |
Abnormality of limbs
| Trait | How often it is seen |
|---|---|
| Limb muscle weakness | Always |
| Inability to straighten knee | Sometimes (5–29%) |
| Lower limb hypertonia | Sometimes (5–29%) |
Abnormal cellular phenotype
| Trait | How often it is seen |
|---|---|
| Decreased activity of mitochondrial complex II | Always |
| Abnormal mitochondria in muscle tissue | Not recorded |
Abnormal tissue mass
| Trait | How often it is seen |
|---|---|
| Cancer of connective tissue | Very often (80–99%) |
| Leiomyosarcoma | Very often (80–99%) |
Abnormality of head or neck
| Trait | How often it is seen |
|---|---|
| Mild microcephaly | Sometimes (5–29%) |
| Retinal capillary hemangioma | Sometimes (5–29%) |
Abnormality of the voice
| Trait | How often it is seen |
|---|---|
| Inability to produce voice sounds | Often (30–79%) |
| Loss of voice | Often (30–79%) |
Abnormality of the immune system
| Trait | How often it is seen |
|---|---|
| Skin rash | Sometimes (5–29%) |
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 SDHA and how often each is seen. Find out more at hpo.jax.org.
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