Hereditary Paraganglioma-pheochromocytoma Syndromes malady

Genetics Home Reference: Hereditary paraganglioma-pheochromocytoma is a condition characterized by the growth of noncancerous (benign) tumors in structures called paraganglia. Paraganglia are groups of cells that are found near nerve cell bunches called ganglia. A tumor involving the paraganglia is known as a paraganglioma. A type of paraganglioma known as a pheochromocytoma develops in the adrenal glands, which are located on top of each kidney and produce hormones in response to stress. Other types of paraganglioma are usually found in the head, neck, or trunk. People with hereditary paraganglioma-pheochromocytoma develop one or more paragangliomas, which may include pheochromocytomas.¹⁷

MalaCards: Hereditary Paraganglioma-pheochromocytoma Syndromes, also known as paragangliomas 3, is related to glomus tumor and pheochromocytoma. An important gene associated with Hereditary Paraganglioma-pheochromocytoma Syndromes is SDHAF2 (succinate dehydrogenase complex assembly factor 2), and among its related pathways are Citric acid cycle (TCA cycle) and Citrate cycle (TCA cycle). The compounds mibg and catecholamine have been mentioned in the context of this disorder. Affiliated tissues include kidney and adrenal gland.

GeneReviews summary for paragangliomas

hereditary paraganglioma-pheochromocytoma syndromes 15 16 paragangliomas 3 17 43 paragangliomas 4 17 43 paragangliomas 2 17 43 paraganglioma 17 43 hereditary paraganglioma-pheochromocytoma syndrome 43 familial paraganglioma-pheochromocytoma syndromes 17

hereditary paraganglioma-pheochromocytoma 17 familial nonchromaffin paragangliomas 16 extra-adrenal paraganglioma 43 hereditary paraganglioma 43 familial glomus tumors 16 paragangliomas 1 17 glomus tumor 43

Diseases related to hereditary paraganglioma-pheochromocytoma syndromes by text searches and GeneDecks gene sharing:

(show top 50)    (show all 90)

id	Related Disease	Score	Top Affiliating Genes
1	glomus tumor	34.2	SDHD, SDHB, SDHAF2
2	pheochromocytoma	29.4	SDHAF2, SDHB, SDHC, SDHD
3	paraganglioma and gastric stromal sarcoma	29.0	SDHD, SDHC, SDHB
4	paraganglioma	28.5	SDHD, SDHC, SDHB, SDHAF2
5	neurofibromatosis	28.2	SDHB, SDHD
6	carotid body tumor	27.9	SDHB, SDHC, SDHD
7	carney triad	27.9	SDHB, SDHC, SDHD
8	sarcoma	26.8	SDHB, SDHC, SDHD
9	chondroma	26.5	SDHB, SDHC, SDHD
10	von hippel-lindau disease	26.5	SDHD, SDHC, SDHB
11	gastrointestinal stromal tumor	26.4	SDHD, SDHC, SDHB
12	thyroid carcinoma	26.3	SDHB, SDHC, SDHD
13	mediastinitis	26.1	SDHB, SDHD
14	neuroendocrine tumor	25.4	SDHAF2, SDHD
15	mitochondrial complex ii deficiency	25.2	SDHB, SDHC, SDHD
16	adrenocortical tumor	25.1	SDHD, SDHC, SDHB
17	multiple endocrine neoplasia	25.1	SDHB, SDHC, SDHD
18	thyroid cancer	25.0	SDHB, SDHC, SDHD
19	renal cell carcinoma	24.7	SDHD, SDHC, SDHB
20	adenoma	24.6	SDHB, SDHC, SDHD
21	cowden-like syndrome	12.7	SDHB, SDHD
22	cranial nerve palsy	12.3	SDHC, SDHD
23	insulinoma	12.2	SDHB, SDHD
24	nasopharynx carcinoma	12.2	SDHC, SDHD
25	familial medullary thyroid carcinoma	11.9	SDHB, SDHC, SDHD
26	familial renal cell carcinoma	11.9	SDHD, SDHC, SDHB
27	multiple endocrine neoplasia type 2a	11.9	SDHB, SDHC, SDHD
28	wermer syndrome	11.9	SDHB, SDHC, SDHD
29	adrenal adenoma	11.9	SDHB, SDHC, SDHD
30	hyperparathyroidism	11.8	SDHB, SDHC, SDHD
31	acute leukemia	11.7	SDHB, SDHC, SDHD
32	huntington's disease	11.7	SDHD, SDHC, SDHB
33	parkinson's disease	11.6	SDHB, SDHC, SDHD
34	neural crest tumor	11.4	SDHAF2, SDHB, SDHC, SDHD
35	hemangioma	11.4	SDHD, SDHC, SDHB, SDHAF2
36	sdhaf2-related hereditary paraganglioma-pheochromocytoma syndrome	9.1
37	sdha-related hereditary paraganglioma-pheochromocytoma syndrome	9.1
38	sdhc-related hereditary paraganglioma-pheochromocytoma syndrome	9.1
39	sdhd-related hereditary paraganglioma-pheochromocytoma syndrome	9.1
40	max-related hereditary paraganglioma-pheochromocytoma syndrome	8.6
41	paragangliomas 4	8.6
42	glomangiosarcoma	8.3
43	subungual glomus tumor	8.3
44	skin glomus tumor	8.3
45	nonsyndromic paraganglioma	8.0
46	glomangioma	8.0
47	paragangliomas 1	7.7
48	paragangliomas 2	7.7
49	paragangliomas 3	7.7
50	thyroiditis	7.6

Approved drugs:

Drug clinical trials:

Genetic tests related to hereditary paraganglioma-pheochromocytoma syndromes:

id	Genetic test	Affiliating Genes
1	Hereditary Paraganglioma-pheochromocytoma Syndromes clinical/research	SDHA, SDHAF2, SDHB, SDHC, SDHD, MAX

MalaCards organs/tissues related to hereditary paraganglioma-pheochromocytoma syndromes:

²²

Genes related to hereditary paraganglioma-pheochromocytoma syndromes according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	SDHAF2	succinate dehydrogenase complex assembly factor 2	11.0
2	SDHD	succinate dehydrogenase complex, subunit D, integral membrane protein	11.0
3	SDHC	succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa	11.0
4	SDHB	succinate dehydrogenase complex, subunit B, iron sulfur (Ip)	11.0

Pathways related to hereditary paraganglioma-pheochromocytoma syndromes according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Citric acid cycle (TCA cycle)38	8.7	SDHD, SDHC, SDHB
2	Citrate cycle (TCA cycle)20	8.6	SDHC, SDHB, SDHD
3	Parkinsons disease20	8.6	SDHD, SDHC, SDHB
4	Oxidative phosphorylation20	8.5	SDHD, SDHC, SDHB
5	Metabolic pathways20	8.5	SDHD, SDHC, SDHB
6	Alzheimers disease20	8.4	SDHB, SDHD, SDHC
7	Huntingtons disease20	8.2	SDHD, SDHC, SDHB

Compounds related to hereditary paraganglioma-pheochromocytoma syndromes according to GeneDecks:

(show all 12)

id	Compound	Score	Top Affiliating Genes
1	mibg32	9.4	SDHD, SDHB
2	catecholamine32	9.2	SDHD, SDHB
3	Heme9 18 9	11.0	SDHC, SDHD
4	UBIQUINONE-19 9	9.8	SDHD, SDHC, SDHB
5	2-Hexyloxy-6-Hydroxymethyl-Tetrahydro-Pyran-3,4,5-Triol9 9	9.7	SDHD, SDHC, SDHB
6	fumarate32 9 9	10.7	SDHD, SDHC, SDHB
7	iron-sulfur32	8.7	SDHB, SDHD, SDHC
8	Succinic acid9 18 9	10.7	SDHD, SDHC, SDHB
9	ubiquinone32	8.7	SDHD, SDHB, SDHC
10	succinate32	8.6	SDHB, SDHC, SDHD
11	iron32 18	9.5	SDHD, SDHC, SDHB
12	oxygen32 18	9.2	SDHB, SDHD, SDHC

Cellular components related to hereditary paraganglioma-pheochromocytoma syndromes according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	mitochondrial inner membrane	GO:005743	8.5	SDHB, SDHD, SDHC
2	mitochondrial respiratory chain complex II	GO:005749	8.4	SDHD, SDHC, SDHB
3	mitochondrion	GO:005739	7.7	SDHAF2, SDHD, SDHC, SDHB

Biological processes related to hereditary paraganglioma-pheochromocytoma syndromes according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	mitochondrial electron transport, succinate to ubiquinone	GO:006121	9.3	SDHAF2, SDHD
2	aerobic respiration	GO:009060	8.8	SDHC, SDHB
3	tricarboxylic acid cycle	GO:006099	8.6	SDHB, SDHC, SDHD
4	small molecule metabolic process	GO:044281	8.5	SDHB, SDHC, SDHD
5	respiratory electron transport chain	GO:022904	8.4	SDHD, SDHC, SDHB

Molecular functions related to hereditary paraganglioma-pheochromocytoma syndromes according to GeneDecks:

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