MC2DN2
MCID: MTC229
MIFTS: 13

Mitochondrial Complex Ii Deficiency, Nuclear Type 2 (MC2DN2)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Mitochondrial Complex Ii Deficiency, Nuclear Type 2

MalaCards integrated aliases for Mitochondrial Complex Ii Deficiency, Nuclear Type 2:

Name: Mitochondrial Complex Ii Deficiency, Nuclear Type 2 57 6
Mc2dn2 57

Classifications:



External Ids:

OMIM® 57 619166
OMIM Phenotypic Series 57 PS252011

Summaries for Mitochondrial Complex Ii Deficiency, Nuclear Type 2

OMIM® : 57 Mitochondrial complex II deficiency nuclear type 2 (MC2DN2) is an autosomal recessive multisystemic metabolic disorder with variable severity and features. Most patients present with neurologic deterioration in infancy or early childhood after normal early development. Features include loss of motor skills, spastic paresis, dystonia, and loss of speech associated with increased serum and CSF lactate. Some patients may have mental decline or visual loss. Skeletal muscle samples show isolated complex II deficiency, and proton MRS shows increased succinate levels in the CSF and brain white matter. Brain imaging usually shows progressive leukoencephalopathy. Although the pattern of brain involvement may not be characteristic of Leigh syndrome (see 256000), postmortem examination in 1 patient showed multifocal spongiform encephalomyelopathy consistent with a diagnosis of Leigh syndrome. The most severely affected patients die of multiorgan failure and lactic acidosis, whereas others who survive may stabilize and regain some skills. Treatment with riboflavin may offer clinical improvement (summary by Brockmann et al., 2002 and Bugiani et al., 2006). For a discussion of genetic heterogeneity of MC2DN, see MC2DN1 (252011). (619166) (Updated 05-Apr-2021)

MalaCards based summary : Mitochondrial Complex Ii Deficiency, Nuclear Type 2, is also known as mc2dn2. An important gene associated with Mitochondrial Complex Ii Deficiency, Nuclear Type 2 is SDHAF1 (Succinate Dehydrogenase Complex Assembly Factor 1). Affiliated tissues include brain and skeletal muscle.

Related Diseases for Mitochondrial Complex Ii Deficiency, Nuclear Type 2

Symptoms & Phenotypes for Mitochondrial Complex Ii Deficiency, Nuclear Type 2

Clinical features from OMIM®:

619166 (Updated 05-Apr-2021)

Drugs & Therapeutics for Mitochondrial Complex Ii Deficiency, Nuclear Type 2

Search Clinical Trials , NIH Clinical Center for Mitochondrial Complex Ii Deficiency, Nuclear Type 2

Genetic Tests for Mitochondrial Complex Ii Deficiency, Nuclear Type 2

Anatomical Context for Mitochondrial Complex Ii Deficiency, Nuclear Type 2

MalaCards organs/tissues related to Mitochondrial Complex Ii Deficiency, Nuclear Type 2:

40
Brain, Skeletal Muscle

Publications for Mitochondrial Complex Ii Deficiency, Nuclear Type 2

Articles related to Mitochondrial Complex Ii Deficiency, Nuclear Type 2:

# Title Authors PMID Year
1
Leukoencephalopathy with accumulated succinate is indicative of SDHAF1 related complex II deficiency. 6 57
22995659 2012
2
SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy. 6 57
19465911 2009
3
Effects of riboflavin in children with complex II deficiency. 6 57
16737791 2006
4
Succinate in dystrophic white matter: a proton magnetic resonance spectroscopy finding characteristic for complex II deficiency. 6 57
12112045 2002

Variations for Mitochondrial Complex Ii Deficiency, Nuclear Type 2

ClinVar genetic disease variations for Mitochondrial Complex Ii Deficiency, Nuclear Type 2:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SDHAF1 NM_001042631.2(SDHAF1):c.169G>C (p.Gly57Arg) SNV Pathogenic 429 rs137853192 GRCh37: 19:36486345-36486345
GRCh38: 19:35995443-35995443
2 SDHAF1 NM_001042631.2(SDHAF1):c.164G>C (p.Arg55Pro) SNV Pathogenic 430 rs137853193 GRCh37: 19:36486340-36486340
GRCh38: 19:35995438-35995438
3 SDHAF1 NM_001042631.3(SDHAF1):c.22C>T (p.Gln8Ter) SNV Pathogenic 426195 rs1085307492 GRCh37: 19:36486198-36486198
GRCh38: 19:35995296-35995296
4 SDHAF1 NM_001042631.3(SDHAF1):c.170G>A (p.Gly57Glu) SNV Pathogenic 1027545 GRCh37: 19:36486346-36486346
GRCh38: 19:35995444-35995444

Expression for Mitochondrial Complex Ii Deficiency, Nuclear Type 2

Search GEO for disease gene expression data for Mitochondrial Complex Ii Deficiency, Nuclear Type 2.

Pathways for Mitochondrial Complex Ii Deficiency, Nuclear Type 2

GO Terms for Mitochondrial Complex Ii Deficiency, Nuclear Type 2

Sources for Mitochondrial Complex Ii Deficiency, Nuclear Type 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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