SDHD Chromosome 11
Succinate dehydrogenase complex subunit D
Upload your DNA to see your personal genotypes for variants in SDHD.
What This Gene Does
This gene encodes a member of complex II of the respiratory chain, which is responsible for the oxidation of succinate. The encoded protein is one of two integral membrane proteins anchoring the complex to the matrix side of the mitochondrial inner membrane. Mutations in this gene are associated with the formation of tumors, including hereditary paraganglioma. Transmission of disease occurs almost exclusively through the paternal allele, suggesting that this locus may be maternally imprinted. There are pseudogenes for this gene on chromosomes 1, 2, 3, 7, and 18. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2013]
Gene Info
Gene Group
Mitochondrial complex II: succinate dehydrogenase subunits
Locus Type
gene with protein product
Location
11q23.1
Ensembl
ENSG00000204370
Associated Conditions (22)
Hereditary cancer-predisposing syndrome
Pheochromocytoma
Cowden syndrome 3
Carney-Stratakis syndrome
Paragangliomas with sensorineural hearing loss
Hereditary pheochromocytoma and paraganglioma
Pheochromocytoma/paraganglioma syndrome 1
SDHD-related disorder
Mitochondrial complex 2 deficiency
nuclear type 3
Inherited phaeochromocytoma and paraganglioma excluding NF1
Microcephaly
Cowden syndrome
Mitochondrial complex II deficiency
nuclear type 1
Paraganglioma
Clear cell carcinoma of kidney
Fatal infantile mitochondrial cardiomyopathy
Thyroid cancer
nonmedullary
+2 more conditions
Key Variants
RS1032016970
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Pheochromocytoma, Cowden syndrome 3
Health Risk
RS1187106228
Conflicting classifications of pathogenicity
Carney-Stratakis syndrome, Pheochromocytoma, Paragangliomas with sensorineural hearing loss
Health Risk
RS1370020365
Conflicting classifications of pathogenicity
Pheochromocytoma, Cowden syndrome 3, Carney-Stratakis syndrome
Health Risk
RS1401695686
Conflicting classifications of pathogenicity
Pheochromocytoma, Cowden syndrome 3, Carney-Stratakis syndrome
Health Risk
RS141802836
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Carney-Stratakis syndrome, Pheochromocytoma
Health Risk
RS142135772
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Paragangliomas with sensorineural hearing loss, Carney-Stratakis syndrome
Health Risk
RS146276662
Conflicting classifications of pathogenicity
Pheochromocytoma/paraganglioma syndrome 1, Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma
Health Risk
RS148634289
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma, Carney-Stratakis syndrome
Health Risk
RS1555186671
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Pheochromocytoma, Carney-Stratakis syndrome
Health Risk
RS1555187565
Conflicting classifications of pathogenicity
Carney-Stratakis syndrome, Cowden syndrome 3, Pheochromocytoma
Health Risk
RS1555187606
Conflicting classifications of pathogenicity
Paragangliomas with sensorineural hearing loss, Cowden syndrome 3, Carney-Stratakis syndrome
Health Risk
RS1566695035
Conflicting classifications of pathogenicity
Carney-Stratakis syndrome, Cowden syndrome 3, Pheochromocytoma
Health Risk
All Variants (154)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1566691921 | Health Risk | Likely pathogenic | Pheochromocytoma, Cowden syndrome 3, Carney-Stratakis syndrome |
| RS1566702771 | Health Risk | Likely pathogenic | — |
| RS1592777182 | Health Risk | Likely pathogenic | — |
| RS1865621296 | Health Risk | Likely pathogenic | Carney-Stratakis syndrome, Pheochromocytoma, Paragangliomas with sensorineural hearing loss |
| RS1865690107 | Health Risk | Likely pathogenic | Hereditary pheochromocytoma and paraganglioma, Hereditary pheochromocytoma and paraganglioma |
| RS2135267337 | Health Risk | Likely pathogenic | Pheochromocytoma/paraganglioma syndrome 1, Pheochromocytoma/paraganglioma syndrome 1 |
| RS2135269358 | Health Risk | Likely pathogenic | Pheochromocytoma/paraganglioma syndrome 1, Pheochromocytoma/paraganglioma syndrome 1 |
| RS2135277367 | Health Risk | Likely pathogenic | — |
| RS2135277706 | Health Risk | Likely pathogenic | Pheochromocytoma/paraganglioma syndrome 1, Pheochromocytoma/paraganglioma syndrome 1 |
| RS2498900005 | Health Risk | Likely pathogenic | Pheochromocytoma/paraganglioma syndrome 1, Pheochromocytoma/paraganglioma syndrome 1 |
| RS2498904485 | Health Risk | Likely pathogenic | — |
| RS2498904629 | Health Risk | Likely pathogenic | Pheochromocytoma, Pheochromocytoma |
| RS587776646 | Health Risk | Likely pathogenic | Pheochromocytoma/paraganglioma syndrome 1, Pheochromocytoma/paraganglioma syndrome 1 |
| RS778969755 | Health Risk | Likely pathogenic | Pheochromocytoma, Cowden syndrome 3, Carney-Stratakis syndrome |
| RS786205436 | Health Risk | Likely pathogenic | Fatal infantile mitochondrial cardiomyopathy, Mitochondrial complex 2 deficiency, nuclear type 3 |
| RS80338847 | Health Risk | Likely pathogenic | Pheochromocytoma/paraganglioma syndrome 1, Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome |
| RS876658477 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Pheochromocytoma, Carney-Stratakis syndrome |
| RS104894303 | Health Risk | Pathogenic | Pheochromocytoma/paraganglioma syndrome 1, Hereditary cancer-predisposing syndrome, Carney-Stratakis syndrome |
| RS104894304 | Health Risk | Pathogenic | Pheochromocytoma/paraganglioma syndrome 1, Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome |
| RS104894305 | Health Risk | Pathogenic | Pheochromocytoma/paraganglioma syndrome 1, Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome |
| RS104894306 | Health Risk | Pathogenic | Pheochromocytoma/paraganglioma syndrome 1, Pheochromocytoma, Hereditary cancer-predisposing syndrome |
| RS104894307 | Health Risk | Pathogenic | Paragangliomas with sensorineural hearing loss, Cowden syndrome 3, Carney-Stratakis syndrome |
| RS104894308 | Health Risk | Pathogenic | Pheochromocytoma/paraganglioma syndrome 1, Hereditary cancer-predisposing syndrome, Paragangliomas with sensorineural hearing loss |
| RS104894309 | Health Risk | Pathogenic | Pheochromocytoma, Hereditary cancer-predisposing syndrome, Paragangliomas with sensorineural hearing loss |
| RS104894310 | Health Risk | Pathogenic | Carney-Stratakis syndrome, Paragangliomas with sensorineural hearing loss, Pheochromocytoma |
| RS1050032491 | Health Risk | Pathogenic | Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome, Paragangliomas with sensorineural hearing loss |
| RS1060503769 | Health Risk | Pathogenic | Pheochromocytoma, Cowden syndrome 3, Carney-Stratakis syndrome |
| RS1060503770 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Cowden syndrome 3, Carney-Stratakis syndrome |
| RS1131691064 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Carney-Stratakis syndrome, Pheochromocytoma |
| RS1306475361 | Health Risk | Pathogenic | Hereditary pheochromocytoma and paraganglioma, Paragangliomas with sensorineural hearing loss, Cowden syndrome 3 |
| RS1314133983 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Pheochromocytoma, Paragangliomas with sensorineural hearing loss |
| RS1555187010 | Health Risk | Pathogenic | Hereditary pheochromocytoma and paraganglioma, Paragangliomas with sensorineural hearing loss, Cowden syndrome 3 |
| RS1555187083 | Health Risk | Pathogenic | Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome, Paragangliomas with sensorineural hearing loss |
| RS1555187084 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Cowden syndrome 3, Pheochromocytoma |
| RS1555187570 | Health Risk | Pathogenic | Hereditary pheochromocytoma and paraganglioma, Hereditary pheochromocytoma and paraganglioma |
| RS1555187583 | Health Risk | Pathogenic | Pheochromocytoma/paraganglioma syndrome 1, Pheochromocytoma, Paragangliomas with sensorineural hearing loss |
| RS1555187601 | Health Risk | Pathogenic | Hereditary pheochromocytoma and paraganglioma, Paragangliomas with sensorineural hearing loss, Cowden syndrome 3 |
| RS1555187635 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1592778958 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Cowden syndrome 3, Pheochromocytoma |
| RS1592786159 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Paragangliomas with sensorineural hearing loss, Pheochromocytoma |
| RS1865655347 | Health Risk | Pathogenic | Carney-Stratakis syndrome, Paragangliomas with sensorineural hearing loss, Pheochromocytoma |
| RS1865655722 | Health Risk | Pathogenic | Carney-Stratakis syndrome, Paragangliomas with sensorineural hearing loss, Pheochromocytoma |
| RS1865686266 | Health Risk | Pathogenic | Carney-Stratakis syndrome, Pheochromocytoma, Paragangliomas with sensorineural hearing loss |
| RS202198133 | Health Risk | Pathogenic | Mitochondrial complex 2 deficiency, nuclear type 3, Mitochondrial complex II deficiency |
| RS2135264652 | Health Risk | Pathogenic | Pheochromocytoma, Cowden syndrome 3, Paragangliomas with sensorineural hearing loss |
| RS2135267557 | Health Risk | Pathogenic | Carney-Stratakis syndrome, Paragangliomas with sensorineural hearing loss, Pheochromocytoma |
| RS2135269244 | Health Risk | Pathogenic | Paragangliomas with sensorineural hearing loss, Carney-Stratakis syndrome, Cowden syndrome 3 |
| RS2135269378 | Health Risk | Pathogenic | Cowden syndrome 3, Pheochromocytoma, Carney-Stratakis syndrome |
| RS2135269697 | Health Risk | Pathogenic | Pheochromocytoma, Cowden syndrome 3, Carney-Stratakis syndrome |
| RS2135269740 | Health Risk | Pathogenic | Carney-Stratakis syndrome, Paragangliomas with sensorineural hearing loss, Pheochromocytoma |