Traits

Traits linked to SDHAF2

succinate dehydrogenase complex assembly factor 2

The Human Phenotype Ontology links 59 traits to SDHAF2, by body system: features seen in people with one of the gene's rare conditions.

SDHAF2

Abnormality of the cardiovascular system

Trait	How often it is seen
Decrease in blood pressure upon standing up	Often (30–79%)
Fainting spell	Often (30–79%)
High blood pressure	Often (30–79%)
Hypertension associated with pheochromocytoma	Often (30–79%)
Hypertensive retinopathy	Often (30–79%)
Palpitations	Often (30–79%)
Positive regitine blocking test	Often (30–79%)
Sinus tachycardia	Often (30–79%)
Arachnoid hemangiomatosis	Sometimes (5–29%)
Cardiac failure	Sometimes (5–29%)
Disease of the heart muscle	Sometimes (5–29%)
Hypertensive crisis	Sometimes (5–29%)
Inflammation of heart muscle	Sometimes (5–29%)

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%)
Paraganglioma of head and neck	Often (30–79%)
Chemodectoma	Not recorded
Glomus jugular tumor	Not recorded
Glomus tympanicum paraganglioma	Not recorded
Vagal paraganglioma	Not recorded

Laboratory abnormality

Trait	How often it is seen
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%)

Abnormality of the nervous system

Trait	How often it is seen
Episodic paroxysmal anxiety	Often (30–79%)
Recurrent paroxysmal headache	Often (30–79%)
Cranial nerve compression	Sometimes (5–29%)
Inability to move vocal cords	Sometimes (5–29%)
Panic attack	Sometimes (5–29%)
Tremor	Sometimes (5–29%)
Cranial nerve paralysis	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Intermittent abdominal pain	Often (30–79%)
Nausea	Often (30–79%)
Abdominal mass	Sometimes (5–29%)
Constipation	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Paroxysmal vertigo	Often (30–79%)
Pulsatile tinnitus	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%)

Abnormality of the integument

Trait	How often it is seen
Flushing	Often (30–79%)
Sporadic excessive sweating	Often (30–79%)
Paleness	Sometimes (5–29%)

Abnormality of the voice

Trait	How often it is seen
Inability to produce voice sounds	Often (30–79%)
Hoarse voice	Not recorded
Loss of voice	Not recorded

Constitutional symptom

Trait	How often it is seen
Chest pain	Often (30–79%)
Fatigue	Often (30–79%)

Abnormal tissue mass

Trait	How often it is seen
Abnormal tissue mass	Not recorded

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Bleeding in brain	Often (30–79%)

Abnormality of head or neck

Trait	How often it is seen
Retinal capillary hemangioma	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Absent iris	Rarely (1–4%)

Growth abnormality

Trait	How often it is seen
Weight loss	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 SDHAF2 and how often each is seen. Find out more at hpo.jax.org.

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