Monogenic hearing loss

Gene: SDHD

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
#114900:Carcinoid tumors, intestinal[Intestinal carcinoid; Appendiceal carcinoid; Malignant carcinoid of ileum]; #168000:Paragangliomas 1, with or without deafness[Pulsatile tinnitus (tympanic paraganglioma)Conductive hearing loss (in a subset of patients); Palpitations (with pheochromocytoma)Tachycardia (with pheochromocytoma); Hypertension (with pheochromocytoma); Vocal cord paralysis (caused by tumor impingement); Diaphoresis (with pheochromocytoma); Headache (with pheochromocytoma)Cranial nerve palsies can arise with head and neck paragangliomas; Anxiety (with pheochromocytoma); Hoarse voice (caused by tumor impingement)Loss of voice; ParagangliomasMultiple tumors in 74% of patientsParagangliomas, head and neck (79%)ChemodectomasCarotid body tumors (most common location)Glomus jugular tumorsVagal nerve tumors (glomus vagale)Tympanic nerve tumors (glomus tympanicum)Pheochromocytoma, adrenal (53%)Pheochromocytoma, extraadrenal (21%); Elevated catecholamines (in patients with pheochromocytoma)]; #171300:Pheochromocytoma[Adrenal medullary tumor; Tachycardia; Congestive heart failure; Sweating; Cafe-au-lait spots; Hemangiomata; Episodic hypertension; Hypertensive retinopathy; Retinal angiomatosis; Congenital cataracts; Cerebral hemorrhage; Renal artery stenosis; Familial pheochromocytoma usually bilateral; Frequent loss of heterozygosity on 1p; Proteinuria; Hypercalcemia; Positive Regitine test; Elevated urinary norepinephrine]; #252011:Mitochondrial complex II deficiency[Short stature; Poor growth; PtosisOphthalmoplegiaPigmentary retinopathyOptic atrophyNystagmusImpaired vision; Hypertrophic cardiomyopathyDilated cardiomyopathyLeft ventricular noncompaction; Joint contractures; Hypotonia, neonatalMuscle weaknessExercise intoleranceRagged red fibers seen on muscle biopsyAbnormal mitochondria with paracrystalline inclusions seen on muscle biopsyAccumulated lipid droplets seen on muscle biopsy; Psychomotor regression in infantsSpasticityHyperreflexiaExtensor plantar responsesAtaxiaCognitive impairmentDystoniaMyoclonusSeizuresLeukoencephalopathy, progressiveSpongiform encephalomyelopathyLeigh syndrome (), in a subset of patientsKearns-Sayre syndrome (), in a subset of patients; Lactic acidosis may occur with stress or infection; Decreased activity of mitochondrial complex II (succinate dehydrogenase)Mildly increased serum lactate]; #606864:Paraganglioma and gastric stromal sarcoma; #615106:Cowden syndrome 3; #:Merkel cell carcinoma, somatic

Publications

• PMID:10657297
• 10846047
• 11156372
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