MCID: HRD031
MIFTS: 42

Hereditary Paraganglioma-Pheochromocytoma Syndromes

Categories: Rare diseases, Genetic diseases, Cardiovascular diseases, Nephrological diseases, Endocrine diseases

Aliases & Classifications for Hereditary Paraganglioma-Pheochromocytoma Syndromes

MalaCards integrated aliases for Hereditary Paraganglioma-Pheochromocytoma Syndromes:

Name: Hereditary Paraganglioma-Pheochromocytoma Syndromes 23 24 25 29
Hereditary Paraganglioma-Pheochromocytoma 50 25
Hereditary Pheochromocytoma-Paraganglioma 25 56
Familial Pheochromocytoma-Paraganglioma 50 56
Familial Nonchromaffin Paragangliomas 23 24
Familial Glomus Tumors 23 24
Paragangliomas 4 25 69
Paragangliomas 3 25 69
Paragangliomas 2 25 69
Familial Paraganglioma-Pheochromocytoma Syndromes 25
Sdhx-Related Paraganglioma-Pheochromocytoma 50
Familial Paraganglioma Syndrome 25
Paragangliomas 1 25
Paraganglioma 69
Fpgl/pheo 25
Fpgl 25

Characteristics:

Orphanet epidemiological data:

56
hereditary pheochromocytoma-paraganglioma
Inheritance: Autosomal dominant; Age of onset: Childhood; Age of death: adult;

GeneReviews:

23
Penetrance Age-related penetrance. pathogenic variants in the genes encoding the subunits of sdh appear to have a high but age-related penetrance (table 3). data, however, are limited [neumann et al 2004, benn et al 2006, jafri et al 2013]...

Classifications:



External Ids:

Orphanet 56 ORPHA29072
ICD10 via Orphanet 34 C74.1 C75.5 D35.0 more

Summaries for Hereditary Paraganglioma-Pheochromocytoma Syndromes

NIH Rare Diseases : 50 the following summary is from orphanet, a european reference portal for information on rare diseases and orphan drugs.orpha number: 29072disease definitionhereditary paraganglioma-pheochromocytomas (pgl/pcc) are rare neuroendocrine tumors represented by paragangliomas (occurring in any paraganglia from the skull base to the pelvic floor) and pheochromocytomas (adrenal medullary paragangliomas; see this term).epidemiologyhereditary pgl/pccs represent 30% of all pgl/pcc, for which prevalence is around 1/500,000 for pcc and 1/1,000,000 for pgl.clinical descriptionpgl can be either hypersecreting (catecholamines) or non-secreting and pccs usually secrete catecholamines. secreting (sympathetic) pgls are predominantly found in the thoracic, abdominal and pelvic areas. hypersecretion manifests as sustained or paroxysmal elevations in blood pressure, headache, episodic profuse sweating, palpitations, pallor and apprehension or anxiety. urinary bladder pgl may be revealed by painless hematuria and blood pressure increase after micturition. non-secreting (parasympathetic) pgls are predominantly located in the head and neck and present as enlarging masses that may be asymptomatic or may be associated with unilateral hearing loss, pulsatile tinnitus, cough, hoarseness of voice, pharyngeal fullness, swallowing difficulty, pain and/or problems with tongue motion. there are no validated markers of malignancy (rate around 15%); the only criterion is the presence of metastases. gastric stromal tumors and renal cancers are rarely associated.etiologyup to 10% of genetically determined pcc/pgls are due to a sdhx germline mutation. hereditary pcc/pgls are caused by mutations in the sdhd, sdhc, sdhb, sdha and sdhaf2 (or sdh5) genes (11q23, 1q21, 1p36.1-p35, 5p15 and 11q31.1 respectively). transmission is autosomal dominant but associated with maternal genomic imprinting for sdhd and sdhaf2 and expressed when the mutation is inherited from the father. penetrance depends on the gene, age and tumor sites. tumors in patients with sdhb mutations are more likely to become malignant than those in patients with other sdhx mutations.diagnostic methodsdiagnosis is based on clinical examination and family history. young age at onset, presence of bilateral, extra-adrenal or multiple tumors, or malignancy suggest an inherited disorder. imaging studies (mri, ct) are used to detect tumors and may include functional imaging (scintigraphy, pet). biochemical testing includes plasma free metanephrines and/or 24 hour-urinary fractionated metanephrines. molecular genetic testing confirms the diagnosis.differential diagnosisdifferential diagnoses include non-hereditary pcc/pgl (although hereditary pcc/pgl tends to present at younger ages, to be multi-focal, bilateral, and recurrent, or to have multiple synchronous neoplasms), pcc/pgl associated with other hereditary conditions (neurofibromatosis type 1, von hippel-lindau syndrome, multiple endocrine neoplasia type 2, carney triad and carney-stratakis syndrome; see these terms) and familial pcc due to tmem127 mutation.antenatal diagnosisprenatal testing is not recommended. presymptomatic testing is proposed in at-risk children from 6 years of age.management and treatmenttreatment for secreting tumors involves blood pressure control with alpha-blockers followed by surgery by specialized teams. if the tumors have not metastasized, surgical resection can be curative. follow-up is required due to the risk of recurrence and malignancy in particular for sdhb mutation-carriers. for head and neck pgl, external radiotherapy can be proposed. when metastases have occurred, other treatment options including chemotherapy and targeted radiotherapy should be proposed.prognosisthe disease may be fatal, but some have lived with malignant pcc/pgl for 20 years or more.visit the orphanet disease page for more resources. last updated: 9/9/2010

MalaCards based summary : Hereditary Paraganglioma-Pheochromocytoma Syndromes, also known as hereditary paraganglioma-pheochromocytoma, is related to paraganglioma and pheochromocytoma, and has symptoms including aphonia An important gene associated with Hereditary Paraganglioma-Pheochromocytoma Syndromes is SDHD (Succinate Dehydrogenase Complex Subunit D), and among its related pathways/superpathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Pathways in cancer. Affiliated tissues include tongue, testes and adrenal gland, and related phenotypes are Decreased viability and mortality/aging

Genetics Home Reference : 25 Hereditary paraganglioma-pheochromocytoma is an inherited 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.

GeneReviews: NBK1548

Related Diseases for Hereditary Paraganglioma-Pheochromocytoma Syndromes

Diseases in the Hereditary Paraganglioma-Pheochromocytoma Syndromes family:

Max-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome Sdha-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome

Diseases related to Hereditary Paraganglioma-Pheochromocytoma Syndromes via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 41, show less)
id Related Disease Score Top Affiliating Genes
1 paraganglioma 28.6 RET SDHAF2 SDHB SDHC SDHD TMEM127
2 pheochromocytoma 25.8 FH KIF1B MAX RET SDHA SDHB
3 max-related hereditary paraganglioma-pheochromocytoma syndrome 12.1
4 sdha-related hereditary paraganglioma-pheochromocytoma syndrome 12.1
5 paragangliomas 4 11.3
6 paragangliomas 3 11.3
7 paragangliomas 2 11.3
8 paragangliomas 1, with or without deafness 11.3
9 acromegaly 11.2
10 glomangioma 10.4 SDHB SDHD
11 salpingo-oophoritis 10.3 SDHA SDHD
12 cerebellar vermis medulloblastoma 10.3 SDHA SDHB
13 multiple endocrine neoplasia iib 10.3 RET SDHB SDHD
14 carcinoid tumors, intestinal 10.3 SDHB SDHC SDHD
15 paraganglioma and gastric stromal sarcoma 10.3 SDHB SDHC SDHD
16 immunodeficiency, common variable, 5 10.2 RET SDHB SDHD
17 serous surface papilloma 10.2 SDHB SDHC SDHD
18 pediatric supratentorial ependymoma 10.2 SDHB SDHC SDHD
19 rete ovarii cystadenoma 10.0 SDHAF2 SDHB SDHC SDHD
20 uterine corpus endometrial carcinoma 10.0 SDHAF2 SDHB SDHC SDHD
21 viral encephalitis 10.0 RET SDHB SDHC SDHD
22 benign shuddering attacks 10.0 RET SDHB SDHC SDHD
23 leiomyomatosis and renal cell cancer 9.9 FH SDHB
24 retinal ischemia 9.9 MAX SDHB
25 mercaptolactate-cysteine disulfiduria 9.8 SDHA SDHB SDHC SDHD
26 gastrointestinal stromal tumor 9.8 SDHA SDHB SDHC SDHD
27 ovarian carcinosarcoma 9.8 FH RET
28 sporadic hemiplegic migraine 9.7 RET SDHB SDHC VHL
29 gata1-related x-linked cytopenia 9.7 FH VHL
30 large bowel leiomyoma 9.7 FH SDHB
31 neurogenic hypertension 9.5 SDHA SDHAF2 SDHB SDHC SDHD
32 glycogen storage disease ib 9.5 SDHA SDHAF2 SDHB SDHC SDHD
33 erythrocytosis, familial, 2 9.5 RET SDHB SDHC SDHD VHL
34 neurofibromatosis, familial spinal 9.5 RET SDHB SDHC SDHD VHL
35 primary oculocerebral lymphoma 9.1 MAX RET SDHB SDHC SDHD VHL
36 residual stage corticosteroid-induced glaucoma 9.1 SDHA SDHAF2 SDHB SDHC SDHD TMEM127
37 ovarian brenner tumor 9.1 FH SDHB VHL
38 bernard-soulier syndrome, type c 9.0 FH SDHB SDHD VHL
39 lung abscess 8.9 RET SDHA SDHAF2 SDHB SDHC SDHD
40 opitz-gbbb syndrome 7.9 FH RET SDHA SDHAF2 SDHB SDHC
41 hidrotic ectodermal dysplasia 2 6.0 FH KIF1B MAX MDH2 RET SDHA

Graphical network of the top 20 diseases related to Hereditary Paraganglioma-Pheochromocytoma Syndromes:



Diseases related to Hereditary Paraganglioma-Pheochromocytoma Syndromes

Symptoms & Phenotypes for Hereditary Paraganglioma-Pheochromocytoma Syndromes

UMLS symptoms related to Hereditary Paraganglioma-Pheochromocytoma Syndromes:


aphonia

GenomeRNAi Phenotypes related to Hereditary Paraganglioma-Pheochromocytoma Syndromes according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.47 RET SDHD VHL
2 Decreased viability GR00221-A-2 9.47 MAX RET SDHD VHL
3 Decreased viability GR00221-A-3 9.47 MAX
4 Decreased viability GR00221-A-4 9.47 RET SDHD
5 Decreased viability GR00231-A 9.47 RET
6 Decreased viability GR00301-A 9.47 RET VHL
7 Decreased viability GR00381-A-1 9.47 SDHD

MGI Mouse Phenotypes related to Hereditary Paraganglioma-Pheochromocytoma Syndromes:

44 (showing 1, show less)
id Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.28 FH KIF1B MAX RET SDHA SDHB

Drugs & Therapeutics for Hereditary Paraganglioma-Pheochromocytoma Syndromes

Interventional clinical trials:

(showing 1, show less)

id Name Status NCT ID Phase Drugs
1 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268

Search NIH Clinical Center for Hereditary Paraganglioma-Pheochromocytoma Syndromes

Genetic Tests for Hereditary Paraganglioma-Pheochromocytoma Syndromes

Genetic tests related to Hereditary Paraganglioma-Pheochromocytoma Syndromes:

id Genetic test Affiliating Genes
1 Hereditary Paraganglioma-Pheochromocytoma Syndromes 29 24 SDHD

Anatomical Context for Hereditary Paraganglioma-Pheochromocytoma Syndromes

MalaCards organs/tissues related to Hereditary Paraganglioma-Pheochromocytoma Syndromes:

39
Tongue, Testes, Adrenal Gland, Kidney

Publications for Hereditary Paraganglioma-Pheochromocytoma Syndromes

Articles related to Hereditary Paraganglioma-Pheochromocytoma Syndromes:

(showing 5, show less)
id Title Authors Year
1
Multimodality Radionuclide Imaging in a Patient With Hereditary Paraganglioma-Pheochromocytoma Syndrome. ( 28902732 )
2017
2
The Hereditary Paraganglioma-Pheochromocytoma Syndrome: No Time to Waste. ( 28837713 )
2017
3
The Hereditary Paraganglioma-Pheochromocytoma Syndrome: No Time to Waste-Reply. ( 28837712 )
2017
4
Hereditary paraganglioma-pheochromocytoma syndromes associated with SDHD and RET mutations. ( 24375508 )
2013
5
Hereditary Paraganglioma-Pheochromocytoma Syndromes ( 20301715 )
1993

Variations for Hereditary Paraganglioma-Pheochromocytoma Syndromes

ClinVar genetic disease variations for Hereditary Paraganglioma-Pheochromocytoma Syndromes:

6 (showing 81, show less)
id Gene Variation Type Significance SNP ID Assembly Location
1 SDHAF2 NM_017841.2(SDHAF2): c.232G> A (p.Gly78Arg) single nucleotide variant Pathogenic rs113560320 GRCh37 Chromosome 11, 61205292: 61205292
2 SDHD NM_003002.3(SDHD): c.106C> T (p.Gln36Ter) single nucleotide variant Pathogenic rs104894303 GRCh37 Chromosome 11, 111958634: 111958634
3 SDHD NM_003002.3(SDHD): c.112C> T (p.Arg38Ter) single nucleotide variant Pathogenic rs80338843 GRCh37 Chromosome 11, 111958640: 111958640
4 SDHD NM_003002.3(SDHD): c.52+2T> G single nucleotide variant Pathogenic rs587776644 GRCh38 Chromosome 11, 112086961: 112086961
5 SDHD NM_003002.3(SDHD): c.242C> T (p.Pro81Leu) single nucleotide variant Pathogenic rs80338844 GRCh37 Chromosome 11, 111959663: 111959663
6 SDHD NM_003002.3(SDHD): c.274G> T (p.Asp92Tyr) single nucleotide variant Pathogenic rs80338845 GRCh37 Chromosome 11, 111959695: 111959695
7 SDHD NM_003002.3(SDHD): c.305A> T (p.His102Leu) single nucleotide variant Pathogenic rs104894302 GRCh37 Chromosome 11, 111959726: 111959726
8 SDHD NM_003002.3(SDHD): c.337_338insT (p.Asp113Valfs) insertion Pathogenic rs587776645 GRCh38 Chromosome 11, 112094827: 112094828
9 SDHD NM_003002.3(SDHD): c.341A> G (p.Tyr114Cys) single nucleotide variant Pathogenic rs104894304 GRCh37 Chromosome 11, 111965555: 111965555
10 SDHD NM_003002.3(SDHD): c.95C> A (p.Ser32Ter) single nucleotide variant Pathogenic rs104894305 GRCh37 Chromosome 11, 111958623: 111958623
11 SDHD NM_003002.3(SDHD): c.443delG (p.Gly148Alafs) deletion Pathogenic rs587776646 GRCh38 Chromosome 11, 112094933: 112094933
12 SDHD NM_003002.3(SDHD): c.64C> T (p.Arg22Ter) single nucleotide variant Pathogenic rs104894306 GRCh37 Chromosome 11, 111958592: 111958592
13 SDHD NM_003002.3(SDHD): c.277_279delTAT (p.Tyr93del) deletion Pathogenic rs121908983 GRCh37 Chromosome 11, 111959698: 111959700
14 SDHD NM_003002.3(SDHD): c.3G> C (p.Met1Ile) single nucleotide variant Pathogenic rs80338842 GRCh37 Chromosome 11, 111957634: 111957634
15 SDHD NM_003002.3(SDHD): c.416T> C (p.Leu139Pro) single nucleotide variant Pathogenic rs80338847 GRCh37 Chromosome 11, 111965630: 111965630
16 SDHD NM_003002.3(SDHD): c.94_95delTC (p.Ala33Ilefs) deletion Pathogenic rs397514034 GRCh37 Chromosome 11, 111958622: 111958623
17 SDHD NM_003002.3(SDHD): c.463delA (p.Met155Cysfs) deletion Pathogenic rs587776647 GRCh38 Chromosome 11, 112094953: 112094953
18 SDHD NM_003002.3(SDHD): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs104894307 GRCh37 Chromosome 11, 111957632: 111957632
19 SDHD NM_003002.3(SDHD): c.337_340delGACT (p.Asp113Metfs) deletion Pathogenic rs587776648 GRCh38 Chromosome 11, 112094827: 112094830
20 SDHD NM_003002.3(SDHD): c.129G> A (p.Trp43Ter) single nucleotide variant Pathogenic rs104894308 GRCh37 Chromosome 11, 111958657: 111958657
21 SDHD SDHD, 96-KB DEL deletion Pathogenic
22 SDHC NM_003001.3(SDHC): c.3G> A (p.Met1Ile) single nucleotide variant Pathogenic rs587776652 GRCh37 Chromosome 1, 161284198: 161284198
23 SDHC NM_003001.3(SDHC): c.405+1G> T single nucleotide variant Pathogenic rs587776653 GRCh37 Chromosome 1, 161326631: 161326631
24 SDHC SDHC, 8,372-BP DEL deletion Pathogenic
25 SDHB NM_003000.2(SDHB): c.268C> T (p.Arg90Ter) single nucleotide variant Pathogenic rs74315366 GRCh37 Chromosome 1, 17359573: 17359573
26 SDHB NM_003000.2(SDHB): c.590C> G (p.Pro197Arg) single nucleotide variant Pathogenic/Likely pathogenic rs74315367 GRCh37 Chromosome 1, 17350520: 17350520
27 SDHB NM_003000.2(SDHB): c.725G> A (p.Arg242His) single nucleotide variant Pathogenic rs74315368 GRCh37 Chromosome 1, 17349143: 17349143
28 SDHB NM_003000.2(SDHB): c.716_719delCTCT (p.Ser239Tyrfs) deletion Pathogenic rs587781266 GRCh38 Chromosome 1, 17022654: 17022657
29 SDHB NM_003000.2(SDHB): c.79C> T (p.Arg27Ter) single nucleotide variant Pathogenic rs74315369 GRCh37 Chromosome 1, 17371377: 17371377
30 SDHB NM_003000.2(SDHB): c.(?_-151)_(72+1_73-1)del deletion Pathogenic
31 SDHB NM_003000.2(SDHB): c.395A> C (p.His132Pro) single nucleotide variant Pathogenic rs74315372 GRCh37 Chromosome 1, 17355123: 17355123
32 SDHB NM_003000.2(SDHB): c.418G> T (p.Val140Phe) single nucleotide variant Pathogenic/Likely pathogenic rs267607032 GRCh37 Chromosome 1, 17355100: 17355100
33 SDHB NC_000001.10: g.17375249_17390927del15679 deletion Pathogenic GRCh37 Chromosome 1, 17375249: 17390927
34 SDHB NC_000001.10: g.17376556_17396932del20377 deletion Pathogenic GRCh37 Chromosome 1, 17376556: 17396932
35 SDHD NM_003002.3(SDHD): c.284T> C (p.Leu95Pro) single nucleotide variant Pathogenic rs80338846 GRCh37 Chromosome 11, 111959705: 111959705
36 SDHB NM_003000.2(SDHB): c.423+1G> A single nucleotide variant Pathogenic rs398122805 GRCh37 Chromosome 1, 17355094: 17355094
37 SDHC NM_003001.3(SDHC): c.43C> T (p.Arg15Ter) single nucleotide variant Pathogenic rs201286421 GRCh37 Chromosome 1, 161293426: 161293426
38 SDHB NM_003000.2(SDHB): c.287-1G> C single nucleotide variant Pathogenic/Likely pathogenic rs397516833 GRCh37 Chromosome 1, 17355232: 17355232
39 SDHB NM_003000.2(SDHB): c.600G> A (p.Trp200Ter) single nucleotide variant Pathogenic/Likely pathogenic rs397516836 GRCh37 Chromosome 1, 17350510: 17350510
40 SDHB NM_003000.2(SDHB): c.286+2T> A single nucleotide variant Pathogenic rs587781270 GRCh38 Chromosome 1, 17033058: 17033058
41 SDHB NM_003000.2(SDHB): c.689G> A (p.Arg230His) single nucleotide variant Pathogenic/Likely pathogenic rs587782604 GRCh37 Chromosome 1, 17349179: 17349179
42 SDHB NM_003000.2(SDHB): c.136C> T (p.Arg46Ter) single nucleotide variant Pathogenic rs74315370 GRCh38 Chromosome 1, 17044825: 17044825
43 SDHB NM_003000.2(SDHB): c.72+1G> T single nucleotide variant Pathogenic rs587782703 GRCh37 Chromosome 1, 17380442: 17380442
44 SDHB NM_003000.2(SDHB): c.260T> C (p.Leu87Ser) single nucleotide variant Likely pathogenic rs727504457 GRCh37 Chromosome 1, 17359581: 17359581
45 TMEM127 NM_017849.3(TMEM127): c.308delG (p.Gly103Alafs) deletion Likely pathogenic rs727503490 GRCh37 Chromosome 2, 96920672: 96920672
46 SDHD NM_003002.3(SDHD): c.*(?_286)_*(387_?)del deletion Likely pathogenic GRCh37 Chromosome 11, 111965980: 111966081
47 SDHC NM_003001.3(SDHC): c.397C> T (p.Arg133Ter) single nucleotide variant Pathogenic rs764575966 GRCh37 Chromosome 1, 161326622: 161326622
48 SDHB NM_003000.2(SDHB): c.724C> T (p.Arg242Cys) single nucleotide variant Pathogenic rs786203251 GRCh38 Chromosome 1, 17022649: 17022649
49 SDHB NM_003000.2(SDHB): c.600G> T (p.Trp200Cys) single nucleotide variant Pathogenic rs397516836 GRCh37 Chromosome 1, 17350510: 17350510
50 SDHB NM_003000.2(SDHB): c.380T> G (p.Ile127Ser) single nucleotide variant Pathogenic/Likely pathogenic rs786201095 GRCh37 Chromosome 1, 17355138: 17355138
51 SDHB NM_003000.2(SDHB): c.166_170delCCTCA (p.Pro56Tyrfs) deletion Pathogenic rs786202100 GRCh37 Chromosome 1, 17371286: 17371290
52 SDHB NM_003000.2(SDHB): c.137G> A (p.Arg46Gln) single nucleotide variant Pathogenic rs772551056 GRCh37 Chromosome 1, 17371319: 17371319
53 SDHB NM_003000.2(SDHB): c.343C> T (p.Arg115Ter) single nucleotide variant Pathogenic rs751000085 GRCh37 Chromosome 1, 17355175: 17355175
54 SDHB NM_003000.2(SDHB): c.640C> T (p.Gln214Ter) single nucleotide variant Pathogenic rs876658461 GRCh37 Chromosome 1, 17350470: 17350470
55 SDHB NM_003000.2(SDHB): c.587G> A (p.Cys196Tyr) single nucleotide variant Pathogenic rs876658367 GRCh37 Chromosome 1, 17350523: 17350523
56 SDHC NM_003001.3(SDHC): c.406-?_*2318+?del deletion Pathogenic
57 SDHB NM_003000.2(SDHB): c.-151_*159del deletion Pathogenic GRCh38 Chromosome 1, 17018722: 17054170
58 SDHB NM_003000.2(SDHB): c.271A> T (p.Arg91Ter) single nucleotide variant Pathogenic rs878854575 GRCh37 Chromosome 1, 17359570: 17359570
59 SDHB NM_003000.2(SDHB): c.126delT (p.Phe42Leufs) deletion Pathogenic rs878854572 GRCh37 Chromosome 1, 17371330: 17371330
60 TMEM127 NM_017849.3(TMEM127): c.-131-?_*3600del deletion Pathogenic GRCh37 Chromosome 2, 96915946: 96931250
61 SDHD NM_003002.3(SDHD): c.-84_*831del deletion Pathogenic GRCh38 Chromosome 11, 112086824: 112095801
62 SDHD NM_003002.3(SDHD): c.10dupC (p.Leu4Profs) duplication Pathogenic rs878854589 GRCh37 Chromosome 11, 111957641: 111957641
63 SDHD NM_003002.3(SDHD): c.173delG (p.Gly58Alafs) deletion Pathogenic rs878854590 GRCh37 Chromosome 11, 111959594: 111959594
64 SDHD NM_003002.3(SDHD): c.242delC (p.Pro81Argfs) deletion Pathogenic rs878854591 GRCh38 Chromosome 11, 112088939: 112088939
65 SDHC NC_000001.11: g.(?_161356677)_(161356840_?)del deletion Pathogenic GRCh37 Chromosome 1, 161326467: 161326630
66 SDHB NC_000001.11: g.(?_17044761)_(17044888_?)del deletion Pathogenic GRCh37 Chromosome 1, 17371256: 17371383
67 SDHC NM_003001.3(SDHC): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs755235380 GRCh38 Chromosome 1, 161314406: 161314406
68 SDHB NM_003000.2(SDHB): c.717dupT (p.Leu240Serfs) duplication Pathogenic/Likely pathogenic GRCh38 Chromosome 1, 17022656: 17022656
69 SDHB NM_003000.2(SDHB): c.620_621delTG (p.Leu207Argfs) deletion Pathogenic rs1060503752 GRCh38 Chromosome 1, 17023994: 17023995
70 SDHB NM_003000.2(SDHB): c.591delC (p.Ser198Alafs) deletion Pathogenic rs1060503757 GRCh38 Chromosome 1, 17024024: 17024024
71 SDHB NM_003000.2(SDHB): c.602G> A (p.Trp201Ter) single nucleotide variant Pathogenic rs1060503759 GRCh38 Chromosome 1, 17024013: 17024013
72 SDHB NM_003000.2(SDHB): c.499A> T (p.Lys167Ter) single nucleotide variant Pathogenic rs1060503753 GRCh38 Chromosome 1, 17027790: 17027790
73 SDHB NM_003000.2(SDHB): c.331_332delCT (p.Leu111Serfs) deletion Pathogenic rs1060503751 GRCh38 Chromosome 1, 17028691: 17028692
74 SDHB NM_003000.2(SDHB): c.374C> G (p.Ser125Ter) single nucleotide variant Pathogenic rs786203506 GRCh38 Chromosome 1, 17028649: 17028649
75 SDHB NM_003000.2(SDHB): c.441T> G (p.Tyr147Ter) single nucleotide variant Pathogenic rs1060503763 GRCh38 Chromosome 1, 17027848: 17027848
76 SDHB NM_003000.2(SDHB): c.141G> A (p.Trp47Ter) single nucleotide variant Pathogenic rs1060503762 GRCh38 Chromosome 1, 17044820: 17044820
77 SDHB NM_003000.2(SDHB): c.22_23delTC (p.Ser8Leufs) deletion Pathogenic rs1060503767 GRCh38 Chromosome 1, 17053997: 17053998
78 SDHD NM_003002.3(SDHD): c.315G> A (p.Trp105Ter) single nucleotide variant Pathogenic rs1060503769 GRCh38 Chromosome 11, 112094805: 112094805
79 SDHD NM_003002.3(SDHD): c.325C> T (p.Gln109Ter) single nucleotide variant Pathogenic rs1060503770 GRCh38 Chromosome 11, 112094815: 112094815
80 MAX NC_000014.9: g.(?_65101546)_(65102544_?)del deletion Pathogenic GRCh37 Chromosome 14, 65568264: 65569262
81 MAX NM_002382.4(MAX): c.211_221delATCCAGTATAT (p.Ile71Alafs) deletion Pathogenic rs1060500101 GRCh38 Chromosome 14, 65077987: 65077997

Expression for Hereditary Paraganglioma-Pheochromocytoma Syndromes

Search GEO for disease gene expression data for Hereditary Paraganglioma-Pheochromocytoma Syndromes.

Pathways for Hereditary Paraganglioma-Pheochromocytoma Syndromes

Pathways related to Hereditary Paraganglioma-Pheochromocytoma Syndromes according to GeneCards Suite gene sharing:

(showing 8, show less)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.08 FH MDH2 SDHA SDHB SDHC SDHD
2 12.27 FH MAX RET VHL
3 12.02 FH MDH2 SDHA SDHAF2
4
Show member pathways
11.95 FH MDH2 SDHA SDHB SDHC SDHD
5
Show member pathways
11.55 FH MDH2 SDHA SDHB SDHC SDHD
6 11.46 FH MDH2 SDHA
7
Show member pathways
11.11 FH MDH2 SDHA SDHB SDHC SDHD
8
Show member pathways
11.06 FH MDH2

GO Terms for Hereditary Paraganglioma-Pheochromocytoma Syndromes

Cellular components related to Hereditary Paraganglioma-Pheochromocytoma Syndromes according to GeneCards Suite gene sharing:

(showing 4, show less)
id Name GO ID Score Top Affiliating Genes
1 mitochondrial inner membrane GO:0005743 9.65 MDH2 SDHA SDHB SDHC SDHD
2 mitochondrion GO:0005739 9.61 FH KIF1B MDH2 SDHA SDHAF2 SDHB
3 respiratory chain complex II GO:0045273 9.16 SDHB SDHC
4 mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) GO:0005749 8.92 SDHA SDHB SDHC SDHD

Biological processes related to Hereditary Paraganglioma-Pheochromocytoma Syndromes according to GeneCards Suite gene sharing:

(showing 7, show less)
id Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.77 MDH2 SDHA SDHB SDHC SDHD
2 respiratory electron transport chain GO:0022904 9.4 SDHA SDHB
3 aerobic respiration GO:0009060 9.33 MDH2 SDHB SDHC
4 succinate metabolic process GO:0006105 9.32 SDHA SDHB
5 malate metabolic process GO:0006108 9.26 FH MDH2
6 tricarboxylic acid cycle GO:0006099 9.17 FH MDH2 SDHA SDHAF2 SDHB SDHC
7 mitochondrial electron transport, succinate to ubiquinone GO:0006121 9.13 SDHA SDHAF2 SDHD

Molecular functions related to Hereditary Paraganglioma-Pheochromocytoma Syndromes according to GeneCards Suite gene sharing:

(showing 5, show less)
id Name GO ID Score Top Affiliating Genes
1 electron carrier activity GO:0009055 9.46 SDHA SDHB SDHC SDHD
2 oxidoreductase activity, acting on the CH-CH group of donors GO:0016627 9.32 SDHA SDHC
3 ubiquinone binding GO:0048039 9.26 SDHB SDHD
4 succinate dehydrogenase (ubiquinone) activity GO:0008177 9.13 SDHA SDHB SDHD
5 succinate dehydrogenase activity GO:0000104 8.8 SDHA SDHC SDHD

Sources for Hereditary Paraganglioma-Pheochromocytoma Syndromes

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
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42 MeSH
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59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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