Mitochondrial Complex Ii Deficiency malady

MalaCards: Mitochondrial Complex Ii Deficiency, also known as mitochondrial respiratory chain complex ii deficiency, is related to paraganglioma and pheochromocytoma. An important gene associated with Mitochondrial Complex Ii Deficiency is SDHAF1 (succinate dehydrogenase complex assembly factor 1), and among its related pathways are Citric acid cycle (TCA cycle) and Citrate cycle (TCA cycle). The compounds thenoyltrifluoroacetone and mibg have been mentioned in the context of this disorder.

OMIM: 252011

mitochondrial complex ii deficiency 30 16 33 43 mitochondrial respiratory chain complex ii deficiency 30 33

complex 2 mitochondrial respiratory chain deficiency 30 16 succinate coq reductase deficiency 30 16

Disease types for mitochondrial complex i deficiency family:

mitochondrial complex iii deficiency	mitochondrial complex ii deficiency
mitochondrial complex v deficiency

Diseases related to mitochondrial complex ii deficiency by text searches and GeneDecks gene sharing:

(show all 47)

id	Related Disease	Score	Top Affiliating Genes
1	paraganglioma	27.7	SDHD, SDHC, SDHB, SDHA
2	pheochromocytoma	27.6	SDHA, SDHB, SDHC, SDHD
3	spastic quadriplegia	12.8	SDHA, SDHAF1
4	kearns-sayre syndrome	12.8	SDHA, SDHAF1
5	seminal vesicle tumor	12.8	SDHA, SDHB
6	quadriplegia	12.8	SDHAF1, SDHA
7	leigh disease	12.7	SDHA, SDHB
8	leukodystrophy	12.5	SDHB, SDHA
9	cowden-like syndrome	12.5	SDHB, SDHD
10	neurofibromatosis	12.4	SDHB, SDHD
11	glomus tumor	12.4	SDHB, SDHD
12	cranial nerve palsy	12.4	SDHC, SDHD
13	mediastinitis	12.1	SDHB, SDHD
14	nasopharynx carcinoma	12.1	SDHC, SDHD
15	paraganglioma and gastric stromal sarcoma	11.9	SDHD, SDHC, SDHB
16	hereditary paraganglioma-pheochromocytoma syndromes	11.9	SDHB, SDHC, SDHD
17	carotid body tumor	11.9	SDHD, SDHC, SDHB
18	familial medullary thyroid carcinoma	11.9	SDHD, SDHC, SDHB
19	familial renal cell carcinoma	11.9	SDHB, SDHC, SDHD
20	multiple endocrine neoplasia type 2a	11.9	SDHD, SDHC, SDHB
21	wermer syndrome	11.9	SDHB, SDHC, SDHD
22	adrenal adenoma	11.9	SDHD, SDHC, SDHB
23	adrenocortical tumor	11.9	SDHB, SDHC, SDHD
24	multiple endocrine neoplasia	11.8	SDHB, SDHC, SDHD
25	hemangioma	11.8	SDHD, SDHC, SDHB
26	hyperparathyroidism	11.7	SDHD, SDHC, SDHB
27	thyroid cancer	11.7	SDHB, SDHC, SDHD
28	acute leukemia	11.7	SDHB, SDHC, SDHD
29	thyroid carcinoma	11.5	SDHD, SDHC, SDHB
30	neural crest tumor	11.4	SDHD, SDHC, SDHB, SDHA
31	carney triad	11.4	SDHD, SDHC, SDHB, SDHA
32	chondroma	11.4	SDHA, SDHB, SDHC, SDHD
33	von hippel-lindau disease	11.4	SDHA, SDHB, SDHC, SDHD
34	gastrointestinal stromal tumor	11.4	SDHD, SDHC, SDHB, SDHA
35	huntington's disease	11.3	SDHD, SDHC, SDHB, SDHA
36	parkinson's disease	11.2	SDHA, SDHB, SDHC, SDHD
37	sarcoma	11.2	SDHD, SDHC, SDHB, SDHA
38	thyroiditis	10.9	SDHD, SDHC, SDHB, SDHA
39	alzheimer's disease	10.7	SDHA, SDHB, SDHC, SDHD
40	cytochrome-c oxidase deficiency disease	8.7
41	mitochondrial complex i deficiency	8.7
42	mitochondrial complex iii deficiency	8.7
43	mitochondrial complex v deficiency	7.8
44	mitochondrial respiratory chain complex i deficiency (nuclear genes)	7.8
45	mitochondrial respiratory chain complex ii deficiency	7.1
46	mitochondrial respiratory chain complex ii deficiency, sdhaf1-related	7.1
47	mitochondrial respiratory chain complex ii deficiency, sdha-related	7.1

Clinical features from OMIM: 252011

Approved drugs:

Drug clinical trials:

Genetic tests related to mitochondrial complex ii deficiency:

id	Genetic test	Affiliating Genes
1	Mitochondrial Complex Ii Deficiency clinical/research	SDHA, SDHAF1

Articles related to mitochondrial complex ii deficiency:

id	Title	Authors	Year	Affiliating Genes
1	The SDH mutation database: an online resource for succinate dehydrogenase sequence variants involved in pheochromocytoma, paraganglioma and mitochondrial complex II deficiency. (16288654)	Bayley J.P.... Taschner P.E.	2005	SDHB, SDHA, SDHC

Genes related to mitochondrial complex ii deficiency according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	SDHAF1	succinate dehydrogenase complex assembly factor 1	11.1	Summaries
2	SDHA	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	11.0	Publications
3	SDHD	succinate dehydrogenase complex, subunit D, integral membrane protein	11.0	Publications
4	SDHC	succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa	11.0	Publications
5	SDHB	succinate dehydrogenase complex, subunit B, iron sulfur (Ip)	11.0	Publications

Pathways related to mitochondrial complex ii deficiency according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Citric acid cycle (TCA cycle)38	8.1	SDHD, SDHC, SDHB, SDHA
2	Citrate cycle (TCA cycle)20	8.1	SDHC, SDHB, SDHA, SDHD
3	Parkinsons disease20	8.1	SDHA, SDHD, SDHB, SDHC
4	Oxidative phosphorylation20	8.0	SDHB, SDHD, SDHC, SDHA
5	Metabolic pathways20	8.0	SDHD, SDHC, SDHB, SDHA
6	Alzheimers disease20	7.9	SDHA, SDHD, SDHB, SDHC
7	Huntingtons disease20	7.7	SDHD, SDHC, SDHB, SDHA

Compounds related to mitochondrial complex ii deficiency according to GeneDecks:

(show all 13)

id	Compound	Score	Top Affiliating Genes
1	thenoyltrifluoroacetone32 9 9	11.5	SDHB, SDHA
2	mibg32	9.3	SDHB, SDHD
3	catecholamine32	9.3	SDHD, SDHB
4	nad+32	9.1	SDHB, SDHA
5	fumarate32 9 9	10.7	SDHD, SDHB, SDHC
6	UBIQUINONE-19 9	9.3	SDHD, SDHC, SDHB, SDHA
7	2-Hexyloxy-6-Hydroxymethyl-Tetrahydro-Pyran-3,4,5-Triol9 9	9.2	SDHB, SDHA, SDHC, SDHD
8	iron-sulfur32	8.2	SDHB, SDHA, SDHD, SDHC
9	Succinic acid9 18 9	10.2	SDHD, SDHA, SDHC, SDHB
10	ubiquinone32	8.2	SDHA, SDHB, SDHC, SDHD
11	succinate32	8.2	SDHB, SDHA, SDHD, SDHC
12	iron32 18	9.1	SDHD, SDHC, SDHA, SDHB
13	oxygen32 18	8.9	SDHC, SDHD, SDHB, SDHA

Cellular components related to mitochondrial complex ii deficiency according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	mitochondrial respiratory chain complex II	GO:005749	7.9	SDHD, SDHC, SDHB, SDHA
2	mitochondrial inner membrane	GO:005743	7.7	SDHD, SDHC, SDHB, SDHA
3	mitochondrion	GO:005739	7.5	SDHD, SDHC, SDHB, SDHAF1, SDHA

Biological processes related to mitochondrial complex ii deficiency according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	succinate metabolic process	GO:006105	9.4	SDHB, SDHA
2	oxidation-reduction process	GO:055114	9.1	SDHA, SDHC
3	aerobic respiration	GO:009060	9.0	SDHC, SDHB
4	tricarboxylic acid cycle	GO:006099	8.1	SDHA, SDHB, SDHC, SDHD
5	respiratory electron transport chain	GO:022904	8.1	SDHD, SDHC, SDHB, SDHA
6	small molecule metabolic process	GO:044281	7.7	SDHD, SDHC, SDHB, SDHA

Molecular functions related to mitochondrial complex ii deficiency according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	succinate dehydrogenase (ubiquinone) activity	GO:008177	9.4	SDHA, SDHB
2	ubiquinone binding	GO:048039	9.2	SDHB, SDHD
3	heme binding	GO:020037	9.0	SDHC, SDHD
4	succinate dehydrogenase activity	GO:000104	8.6	SDHA, SDHC, SDHD
5	electron carrier activity	GO:009055	8.2	SDHD, SDHB, SDHC