ORPHA:3208
Isolated succinate-CoQ reductase deficiency
Synonyms: Isolated mitochondrial respiratory chain complex II deficiency · Isolated succinate dehydrogenase deficiency · Isolated succinate-coenzyme Q reductase deficiency · Isolated succinate-ubiquinone reductase deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, mitochondrial oxidative phosphorylation disorder characterized by a highly variable phenotype. The severe, multisystemic disease involves brain, heart, muscles, liver, kidneys, and eyes and results in death in infancy. Mildly affected individuals have only isolated cardiac or muscle involvement in the adulthood. Histochemical and biochemical analysis reveals a global reduction of succinate dehydrogenase activity.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated succinate-CoQ reductase deficiency | Isolated mitochondrial respiratory chain complex II deficiency · Isolated succinate dehydrogenase deficiency · Isolated succinate-coenzyme Q reductase deficiency · Isolated succinate-ubiquinone reductase deficiency |
| fr | Déficit isolé en succinate-CoQ réductase | Déficit isolé en complexe II de la chaîne respiratoire mitochondriale · Déficit isolé en succinate déshydrogénase · Déficit isolé en succinate-coenzyme Q réductase · Déficit isolé en succinate-ubiquinone réductase |
| de | Succinat-Coenzym-Q-Reduktase-Mangel, isolierter | Isolierter mitochondrialer Atmungskettendefekt im Komplex II · Succinat-Ubiquinon-Reduktase-Mangel, isolierter |
| es | Deficiencia aislada de succinato-CoQ reductasa | Deficiencia aislada de succinato-coenzima Q reductasa · Deficiencia aislada de succinato-ubiquinona reductasa · Deficiencia aislada del complejo 2 de la cadena respiratoria mitocondrial · Deficiencia aislada del complejo II de la cadena respiratoria mitocondrial |
| it | Deficit isolato di succinato-CoQ reduttasi | Deficit isolato del complesso II della catena respiratoria mitocondriale · Deficit isolato di succinato-Coenzima Q reduttasi · Deficit isolato di succinato-ubichinone reduttasi |
| nl | Geïsoleerde succinaat-CoQ-reductasedeficiëntie | Geïsoleerde mitochondriale ademhalingsketencomplex II-deficiëntie · Geïsoleerde succinaat-co-enzym Q-reductasedeficiëntie · Geïsoleerde succinaat-ubiquinon-reductasedeficiëntie |
| pt | Deficiência de succinato-CoQ redutase isolada | Deficiência de complexo II da cadeia respiratória mitocondrial isolada · Deficiência de succinato desidrogenase isolada · Deficiência de succinato-coenzima Q redutase isolada · Deficiência de succinato-ubiquinona redutase isolada |
| pl | Izolowany Niedobór reduktazy sukcynylo-CoQ | Izolowany Niedobór kompleksu II mitochondrialnego łańcucha oddechowego · Izolowany Niedobór reduktazy sukcynylo-koenzymu Q · Izolowany Niedobór reduktazy sukcynylo-ubichinionu |
| cs | Izolovaný deficit sukcinát-CoQ reduktázy | Izolovaný deficit sukcinát-koenzym Q reduktázy · Izolovaný deficit sukcinát-ubichinon reduktázy · Izolovaný deficit mitochondriálního komplexu II respiračního řetězce |
| uk | Ізольований дефіцит сукцинат-CoQ-редуктази | Ізольований дефіцит комплексу ІІ мітохондріального дихального ланцюга · Ізольований дефіцит сукцинатдегідрогенази · Ізольований дефіцит сукцинат-коензиму Q-редуктази · Ізольований дефіцит сукцинат-убіхінон-редуктази |
| zh | 孤立型琥珀酸-辅酶Q还原酶缺乏症 | 孤立型线粒体呼吸链复合物2缺乏症 |
| tr | İzole süksinat-CoQ redüktaz eksikliği | İzole süksinat dehidrojenaz eksikliği · İzole süksinat-koenzim Q redüktaz eksikliği · İzole süksinat-ubikinon redüktaz eksikliği · İzole mitokondriyal solunum zinciri kompleksi II eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 252011 | BTNT | validated | |
| OMIM | 619166 | BTNT | validated | |
| OMIM | 619167 | BTNT | validated | |
| OMIM | 619224 | BTNT | validated | |
| ICD-10 | G71.3 | NTBT | attributed | validated |
| ICD-11 | 5C53.2Y | NTBT | index | validated |
| MeSH | C565375 | E | validated | |
| UMLS | C1855008 | E | validated | |
| GARD | 5053 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:254846Isolated oxidative phosphorylation complex disorder
rare inborn errors of metabolism; rare genetic diseases - ORPHA:206966Mitochondrial myopathy
rare genetic diseases; rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
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Genes
4 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SDHD | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:10683 | ENSG00000204370 | 602690 | 11q23.1 | succinate dehydrogenase complex subunit D | 24367056[PMID] |
| SDHA | Disease-causing germline mutation(s) in | Assessed | HGNC:10680 | ENSG00000073578 | 600857 | 5p15.33 | succinate dehydrogenase complex flavoprotein subunit A | 22972948[PMID] |
| SDHAF1 | Disease-causing germline mutation(s) in | Assessed | HGNC:33867 | ENSG00000205138 | 612848 | 19q13.12 | succinate dehydrogenase complex assembly factor 1 | 19465911[PMID] |
| SDHB | Disease-causing germline mutation(s) in | Assessed | HGNC:10681 | ENSG00000117118 | 185470 | 1p36.13 | succinate dehydrogenase complex iron sulfur subunit B | 22972948[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 37 cases | Worldwide | Case(s) | Validated | 23322652[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 23322652[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
50 annotations · validated 2019-01-21| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0005162 | Abnormal left ventricular function | |
| HP:0001626 | Abnormality of the cardiovascular system | |
| HP:0000478 | Abnormality of the eye | |
| HP:0003487 | Babinski sign | |
| HP:0002376 | Developmental regression | |
| HP:0003693 | Distal amyotrophy | |
| HP:0003388 | Easy fatigability | |
| HP:0003324 | Generalized muscle weakness | |
| HP:0002123 | Generalized myoclonic seizure | |
| HP:0006801 | Hyperactive deep tendon reflexes | |
| HP:0007083 | Hyperactive patellar reflex | |
| HP:0007350 | Hyperreflexia in upper limbs | |
| HP:0001639 | Hypertrophic cardiomyopathy | |
| HP:0001712 | Left ventricular hypertrophy | |
| HP:0001270 | Motor delay | |
| HP:0002333 | Motor deterioration | |
| HP:0007272 | Progressive psychomotor deterioration | |
| HP:0003508 | Proportionate short stature | |
| HP:0003701 | Proximal muscle weakness | |
| HP:0007663 | Reduced visual acuity | |
| HP:0003510 | Severe short stature | |
| HP:0003756 | Skeletal myopathy | |
| HP:0001257 | Spasticity | |
| HP:0001824 | Weight loss | |
| Occasional (29-5%) | ||
| HP:0005150 | Abnormal atrioventricular conduction | |
| HP:0001251 | Ataxia | |
| HP:0002474 | Expressive language delay | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0011166 | Focal myoclonic seizure | |
| HP:0002359 | Frequent falls | |
| HP:0001290 | Generalized hypotonia | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000737 | Irritability | |
| HP:0006380 | Knee flexion contracture | |
| HP:0006895 | Lower limb hypertonia | |
| HP:0040196 | Mild microcephaly | |
| HP:0011343 | Moderate global developmental delay | |
| HP:0012817 | Noncompaction cardiomyopathy | |
| HP:0001250 | Seizure | |
| HP:0003202 | Skeletal muscle atrophy | |
| HP:0002313 | Spastic paraparesis | |
| HP:0001285 | Spastic tetraparesis | |
| Very rare (<4-1%) | ||
| HP:0000618 | Blindness | |
| HP:0000726 | Dementia | |
| HP:0000544 | External ophthalmoplegia | |
| HP:0002505 | Loss of ambulation | |
| HP:0000639 | Nystagmus | |
| HP:0000580 | Pigmentary retinopathy | |
| HP:0002421 | Poor head control | |
| HP:0000076 | Vesicoureteral reflux | |
Annotation source: 6318158[PMID]_2710360[PMID]_7609447[PMID]_8174601[PMID]_1492653[PMID]_7839816[PMID]_12112045[PMID]_19465911[PMID]_16737791[PMID]_22972948[PMID]_23322652[PMID]_24367056[PMID]_26008905[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3208
- This record as JSON: /data/d/3208.json