Paragangliomas with sensorineural hearing loss: genes and variants
Paragangliomas with sensorineural hearing loss is linked to 1 analyzed protein (SDHD). 13 DNA variants are known to cause it; 160 more are uncertain, and 1 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Paragangliomas with sensorineural hearing loss
SDHD: Succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial
It provides a membrane-anchoring component of succinate dehydrogenase and is required for normal complex II electron transfer. Germline loss-of-function variants, often showing a parent-of-origin effect, strongly predispose to head-and-neck paragangliomas and pheochromocytomas.
13 disease-causing and 160 uncertain variants in SDHD are linked to Paragangliomas with sensorineural hearing loss.
Where Paragangliomas with sensorineural hearing loss variants cluster
- SDHD Transmembrane (positions 91–111): 7 of 13 disease-causing changes, 4.1× more than its size predicts.
Known disease-causing variants in Paragangliomas with sensorineural hearing loss
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| SDHD H102N | 102 | Transmembrane | Disease-causing (★★) |
| SDHD H102Y | 102 | Transmembrane | Disease-causing (★★) |
| SDHD H102P | 102 | Transmembrane | Disease-causing (★★) |
| SDHD D92Y | 92 | Transmembrane | Disease-causing (★★) |
| SDHD L107R | 107 | Transmembrane | Disease-causing (★★) |
| SDHD G106D | 106 | Transmembrane | Disease-causing (★★) |
| SDHD G106V | 106 | Transmembrane | Disease-causing (★★) |
| SDHD M1I | 1 | Disease-causing (★★) | |
| SDHD G138R | 138 | Transmembrane | Disease-causing (★★) |
| SDHD Y114C | 114 | Mitochondrial matrix | Disease-causing (★★) |
| SDHD M1T | 1 | Disease-causing (★) | |
| SDHD L80R | 80 | Transmembrane | Disease-causing (★) |
| SDHD L139R | 139 | Transmembrane | Disease-causing (★) |
Uncertain variants in Paragangliomas with sensorineural hearing loss that look disease-causing
| Variant | Position | Protein part | Clinical label | Evidence |
|---|---|---|---|---|
| SDHD G138V | 138 | Transmembrane | Conflicting reports (★) | +6: 2 other pathogenic changes within 3 positions; G138R at the same position is pathogenic; not seen in the gnomAD population database; AlphaMissense 0.76 |
Same protein, different disease
- Pheochromocytoma is also caused by SDHD variants; they fall in the same places as the Paragangliomas with sensorineural hearing loss variants (14 disease-causing).
- Carney-Stratakis syndrome is also caused by SDHD variants; they fall in the same places as the Paragangliomas with sensorineural hearing loss variants (11 disease-causing).
- Pheochromocytoma/paraganglioma syndrome 5 is also caused by SDHD variants; they fall in the same places as the Paragangliomas with sensorineural hearing loss variants (4 disease-causing).
Diseases related to Paragangliomas with sensorineural hearing loss
- Pheochromocytoma/paraganglioma syndrome 5, also linked to SDHD
- Cowden syndrome, also linked to SDHD
- Pheochromocytoma, also linked to SDHD
- Carney-Stratakis syndrome, also linked to SDHD
- Mitochondrial complex II deficiency, nuclear type 1, also linked to SDHD
- Mitochondrial complex 2 deficiency, nuclear type 3, also linked to SDHD
- Hereditary pheochromocytoma and paraganglioma, also linked to SDHD
Frequently asked questions
Which genes are linked to Paragangliomas with sensorineural hearing loss?
In CATVariant, Paragangliomas with sensorineural hearing loss is linked to 1 analyzed protein: SDHD (Succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial).
How many genetic variants are linked to Paragangliomas with sensorineural hearing loss?
187 variants: 13 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 160 are of uncertain significance or have conflicting reports.
Which uncertain variants in Paragangliomas with sensorineural hearing loss look disease-causing?
1 uncertain variants reach the likely-pathogenic range of the ACMG/AMP points scale on computable evidence, for example SDHD G138V. These are leads for expert review, not diagnoses.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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