Isolated succinate-CoQ reductase deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: Isolated succinate-ubiquinone reductase deficiency
Isolated succinate-coenzyme Q reductase deficiency
SUCCINATE CoQ REDUCTASE DEFICIENCY
Isolated mitochondrial respiratory chain complex II deficiency
Number of Symptoms 39
OrphanetNr: 3208
OMIM Id: 252011
ICD-10: G71.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Infantile onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: Isolated oxidative phosphorylation complex disorder
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare neurologic disease
Mitochondrial myopathy
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000508) Ptosis 459 / 7739
2
 (HPO:0000648) Optic atrophy 238 / 7739
3
 (HPO:0000580) Pigmentary retinopathy 49 / 7739
4
 (HPO:0000505) Visual impairment 297 / 7739
5
 (HPO:0000639) Nystagmus 555 / 7739
6
 (HPO:0000602) Ophthalmoplegia 56 / 7739
7
 (HPO:0002376) Developmental regression 74 / 7739
8
 (HPO:0003487) Babinski sign 179 / 7739
9
 (HPO:0001251) Ataxia 413 / 7739
10
 (HPO:0001336) Myoclonus 115 / 7739
11
 (HPO:0001250) Seizures 1245 / 7739
12
 (HPO:0100543) Cognitive impairment 230 / 7739
13
 (HPO:0001332) Dystonia 197 / 7739
14
 (HPO:0001257) Spasticity 251 / 7739
15
 (HPO:0001347) Hyperreflexia 363 / 7739
16
 (HPO:0001371) Flexion contracture 220 / 7739
17
 (HPO:0001510) Growth delay 295 / 7739
18
 (HPO:0004322) Short stature 1232 / 7739
19
 (HPO:0001639) Hypertrophic cardiomyopathy 137 / 7739
20
 (HPO:0001644) Dilated cardiomyopathy 141 / 7739
21
 (HPO:0004897) Stress/infection-induced lactic acidosis 1 / 7739
22
 (HPO:0008314) Decreased activity of mitochondrial complex II 7 / 7739
23
 (HPO:0008316) Abnormal mitochondria in muscle tissue 5 / 7739
24
 (HPO:0002151) Increased serum lactate 92 / 7739
25
 (HPO:0001324) Muscle weakness 859 / 7739
26
 (HPO:0001319) Neonatal hypotonia 101 / 7739
27
 (HPO:0012240) Increased intramyocellular lipid droplets 7 / 7739
28
 (HPO:0003546) Exercise intolerance 62 / 7739
29
 (HPO:0003200) Ragged-red muscle fibers 37 / 7739
30
 (HPO:0006980) Progressive leukoencephalopathy 3 / 7739
31
 (OMIM) Lactic acidosis may occur with stress or infection 1 / 7739
32
 (OMIM) Accumulated lipid droplets seen on muscle biopsy 1 / 7739
33
 (OMIM) Abnormal mitochondria with paracrystalline inclusions seen on muscle biopsy 1 / 7739
34
 (OMIM) Kearns-Sayre syndrome (530000), in a subset of patients 1 / 7739
35
 (OMIM) Mildly increased serum lactate 3 / 7739
36
 (HPO:0002352) Leukoencephalopathy 32 / 7739
37
 (OMIM) Leigh syndrome (245000), in a subset of patients 1 / 7739
38
 (OMIM) Spongiform encephalomyelopathy 1 / 7739
39
 (OMIM) [DEL]Ragged red fibers seen on muscle biopsy 10 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Complex II, also known as succinate dehydrogenase (EC 1.3.5.1), is part of the mitochondrial respiratory chain. Deficiency of complex II is characterized by highly variable phenotypic expression.
Clinical Description OMIM Riggs et al. (1984) described 2 sibs with deficiency of complex II. A 7-year-old boy and his 9-year-old sister had progressive encephalomyopathy with dementia, myoclonic seizures, and short stature. A muscle biopsy showed mitochondrial aggregates and excessive lipid ...
Molecular genetics OMIM In 2 sibs with complex II deficiency presenting as Leigh syndrome reported by Bourgeois et al. (1992), Bourgeron et al. (1995) identified a homozygous mutation in the SDHA gene (600857.0001). Bourgeron et al. (1995) claimed that this was ...