FPGL
MCID: HRD031
MIFTS: 59

Hereditary Paraganglioma-Pheochromocytoma Syndromes (FPGL)

Categories: Endocrine diseases, Rare diseases

Aliases & Classifications for Hereditary Paraganglioma-Pheochromocytoma Syndromes

MalaCards integrated aliases for Hereditary Paraganglioma-Pheochromocytoma Syndromes:

Name: Hereditary Paraganglioma-Pheochromocytoma Syndromes 24 25 29 6
Hereditary Pheochromocytoma-Paraganglioma 52 25 58
Hereditary Paraganglioma-Pheochromocytoma 52 25
Familial Pheochromocytoma-Paraganglioma 52 58
Paragangliomas 4 25 71
Paragangliomas 2 25 71
Paragangliomas 3 25 71
Familial Paraganglioma-Pheochromocytoma Syndromes 25
Sdhx-Related Paraganglioma-Pheochromocytoma 52
Familial Paraganglioma Syndrome 25
Paragangliomas 1 25
Paraganglioma 71
Fpgl/pheo 25
Fpgl 25

Characteristics:

Orphanet epidemiological data:

58
hereditary pheochromocytoma-paraganglioma
Inheritance: Autosomal dominant; Age of onset: Childhood; Age of death: adult;

GeneReviews:

24
Penetrance Age-related penetrance. penetrance estimates vary (see table 3). penetrance was initially believed to be quite high, but larger studies with less bias from probands suggest a much lower penetrance. no reliable penetrance data are currently available for max, sdhaf2, or tmem127 pathogenic variants....

Classifications:

Orphanet: 58  
Rare endocrine diseases


Summaries for Hereditary Paraganglioma-Pheochromocytoma Syndromes

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 29072 Definition Hereditary 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). Epidemiology Hereditary 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 description PGL 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. Etiology Up 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 methods Diagnosis 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 diagnosis Differential 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 diagnosis Prenatal testing is not recommended. Presymptomatic testing is proposed in at-risk children from 6 years of age. Management and treatment Treatment 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. Prognosis The 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.

MalaCards based summary : Hereditary Paraganglioma-Pheochromocytoma Syndromes, also known as hereditary pheochromocytoma-paraganglioma, is related to paragangliomas 3 and paragangliomas 1, and has symptoms including aphonia An important gene associated with Hereditary Paraganglioma-Pheochromocytoma Syndromes is MAX (MYC Associated Factor X), and among its related pathways/superpathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Glucose / Energy Metabolism. The drugs Doxazosin and Phenoxybenzamine have been mentioned in the context of this disorder. Affiliated tissues include testes, adrenal gland and kidney, and related phenotypes are adrenal pheochromocytoma and extraadrenal pheochromocytoma

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. Pheochromocytomas and some other paragangliomas are associated with ganglia of the sympathetic nervous system. The sympathetic nervous system controls the "fight-or-flight" response, a series of changes in the body due to hormones released in response to stress. Sympathetic paragangliomas found outside the adrenal glands, usually in the abdomen, are called extra-adrenal paragangliomas. Most sympathetic paragangliomas, including pheochromocytomas, produce hormones called catecholamines, such as epinephrine (adrenaline) or norepinephrine. These excess catecholamines can cause signs and symptoms such as high blood pressure (hypertension), episodes of rapid heartbeat (palpitations), headaches, or sweating. Most paragangliomas are associated with ganglia of the parasympathetic nervous system, which controls involuntary body functions such as digestion and saliva formation. Parasympathetic paragangliomas, typically found in the head and neck, usually do not produce hormones. However, large tumors may cause signs and symptoms such as coughing, hearing loss in one ear, or difficulty swallowing. Although most paragangliomas and pheochromocytomas are noncancerous, some can become cancerous (malignant) and spread to other parts of the body (metastasize). Extra-adrenal paragangliomas become malignant more often than other types of paraganglioma or pheochromocytoma. Researchers have identified several types of hereditary paraganglioma-pheochromocytoma. Each type is distinguished by its genetic cause. People with types 1, 2, and 3 typically develop paragangliomas in the head or neck region. People with type 4 usually develop extra-adrenal paragangliomas in the abdomen and are at higher risk for malignant tumors that metastasize. The other types are very rare. Hereditary paraganglioma-pheochromocytoma is typically diagnosed in a person's 30s. Paragangliomas and pheochromocytomas can occur in individuals with other inherited disorders, such as von Hippel-Lindau syndrome, Carney-Stratakis syndrome, and certain types of multiple endocrine neoplasia. These other disorders feature additional tumor types and have different genetic causes. Some paragangliomas and pheochromocytomas occur in people with no history of the tumors in their families and appear not to be inherited. These cases are designated as sporadic.

GeneReviews: NBK1548

Related Diseases for Hereditary Paraganglioma-Pheochromocytoma Syndromes

Diseases in the Pheochromocytoma-Paraganglioma family:

Hereditary Paraganglioma-Pheochromocytoma Syndromes

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

(show top 50) (show all 101)
# Related Disease Score Top Affiliating Genes
1 paragangliomas 3 33.4 SDHC MPZ
2 paragangliomas 1 32.9 SDHD SDHC SDHB RET
3 hereditary leiomyomatosis and renal cell cancer 30.5 SDHB FH
4 leiomyomatosis 30.1 VHL SDHB FH
5 pheochromocytoma-paraganglioma 29.8 VHL TMEM127 SDHD SDHC SDHB SDHA
6 tumor predisposition syndrome 29.7 SLC25A11 FH DLST
7 multiple endocrine neoplasia 29.6 VHL SDHC SDHB RET GDNF
8 neural crest tumor 29.6 SDHD SDHC SDHB SDHAF2 SDHA
9 von hippel-lindau syndrome 28.6 VHL TMEM127 SDHD SDHC SDHB RET
10 neurofibromatosis 28.6 VHL SDHD SDHB RET NF1
11 pheochromocytoma 28.5 VHL TMEM127 SDHD SDHC SDHB SDHAF2
12 neuroblastoma 28.2 SDHB RET NF1 MAX KIF1B GDNF
13 paraganglioma 26.4 VHL TMEM127 SLC25A11 SDHD SDHC SDHB
14 paragangliomas 4 11.9
15 paragangliomas 2 11.9
16 acromegaly 11.6
17 adrenal gland pheochromocytoma 10.6
18 spastic paraplegia 38, autosomal dominant 10.4 SDHB SDHA
19 b-lymphoblastic leukemia/lymphoma with hypodiploidy 10.3 SDHA RET
20 retinal hemangioblastoma 10.3 VHL TMEM127
21 charcot-marie-tooth disease, dominant intermediate d 10.3 MPZ KIF1B
22 foster-kennedy syndrome 10.3 SDHD SDHAF2 SDHA
23 charcot-marie-tooth disease, axonal, type 2j 10.3 MPZ KIF1B
24 charcot-marie-tooth disease, axonal, type 2a1 10.3 MPZ KIF1B
25 medullary sponge kidney 10.3 RET GDNF
26 charcot-marie-tooth disease, axonal, type 2i 10.2 MPZ KIF1B
27 charcot-marie-tooth disease type x 10.2 MPZ KIF1B
28 hypoganglionosis 10.2 RET GDNF
29 charcot-marie-tooth disease, axonal, type 2l 10.2 MPZ KIF1B
30 charcot-marie-tooth disease, demyelinating, type 1d 10.2 MPZ KIF1B
31 charcot-marie-tooth disease, demyelinating, type 1f 10.2 MPZ KIF1B
32 familial renal papillary carcinoma 10.2 SDHB FH
33 hereditary motor and sensory neuropathy, type iic 10.2 MPZ KIF1B
34 leiomyoma cutis 10.2 SDHD FH
35 charcot-marie-tooth disease, axonal, type 2f 10.2 MPZ KIF1B
36 dermis tumor 10.2 SDHD FH
37 charcot-marie-tooth disease, x-linked dominant, 1 10.2 MPZ KIF1B
38 charcot-marie-tooth disease, type 4a 10.2 MPZ KIF1B
39 cardiomyopathy, dilated, 1gg 10.1 SDHA FH
40 charcot-marie-tooth disease, axonal, type 2d 10.1 MPZ KIF1B
41 fumarate hydratase deficiency 10.1 VHL FH
42 charcot-marie-tooth disease, demyelinating, type 1b 10.1 MPZ KIF1B
43 paragangliomas 5 10.1
44 bone disease 10.1
45 pancytopenia 10.1
46 intravenous leiomyomatosis 10.1
47 multiple mucosal neuroma 10.1 SDHAF2 RET GDNF
48 malignant pheochromocytoma 10.1
49 kidney cancer 10.1
50 gastric leiomyosarcoma 10.1 SDHD SDHC SDHB 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

Human phenotypes related to Hereditary Paraganglioma-Pheochromocytoma Syndromes:

58 31 (show all 41)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 adrenal pheochromocytoma 58 31 hallmark (90%) Very frequent (99-80%) HP:0006748
2 extraadrenal pheochromocytoma 58 31 hallmark (90%) Very frequent (99-80%) HP:0006737
3 proteinuria 58 31 frequent (33%) Frequent (79-30%) HP:0000093
4 fatigue 58 31 frequent (33%) Frequent (79-30%) HP:0012378
5 weight loss 58 31 frequent (33%) Frequent (79-30%) HP:0001824
6 chest pain 58 31 frequent (33%) Frequent (79-30%) HP:0100749
7 dysphonia 58 31 frequent (33%) Frequent (79-30%) HP:0001618
8 hypercalcemia 58 31 frequent (33%) Frequent (79-30%) HP:0003072
9 cerebral hemorrhage 58 31 frequent (33%) Frequent (79-30%) HP:0001342
10 sinus tachycardia 58 31 frequent (33%) Frequent (79-30%) HP:0011703
11 episodic abdominal pain 58 31 frequent (33%) Frequent (79-30%) HP:0002574
12 palpitations 58 31 frequent (33%) Frequent (79-30%) HP:0001962
13 glomerulosclerosis 58 31 frequent (33%) Frequent (79-30%) HP:0000096
14 recurrent paroxysmal headache 58 31 frequent (33%) Frequent (79-30%) HP:0002331
15 nausea 58 31 frequent (33%) Frequent (79-30%) HP:0002018
16 paroxysmal vertigo 58 31 frequent (33%) Frequent (79-30%) HP:0010532
17 episodic paroxysmal anxiety 58 31 frequent (33%) Frequent (79-30%) HP:0000740
18 episodic hyperhidrosis 58 31 frequent (33%) Frequent (79-30%) HP:0001069
19 hypertensive retinopathy 58 31 frequent (33%) Frequent (79-30%) HP:0001095
20 paraganglioma of head and neck 58 31 frequent (33%) Frequent (79-30%) HP:0002864
21 elevated urinary norepinephrine 58 31 frequent (33%) Frequent (79-30%) HP:0003345
22 positive regitine blocking test 58 31 frequent (33%) Frequent (79-30%) HP:0003574
23 elevated urinary epinephrine 58 31 frequent (33%) Frequent (79-30%) HP:0003639
24 pulsatile tinnitus 58 31 frequent (33%) Frequent (79-30%) HP:0008629
25 elevated urinary dopamine 58 31 frequent (33%) Frequent (79-30%) HP:0011979
26 flushing 58 31 frequent (33%) Frequent (79-30%) HP:0031284
27 tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0001337
28 congestive heart failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0001635
29 hematuria 58 31 occasional (7.5%) Occasional (29-5%) HP:0000790
30 pallor 58 31 occasional (7.5%) Occasional (29-5%) HP:0000980
31 vocal cord paralysis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001605
32 conductive hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000405
33 renal cell carcinoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0005584
34 elevated calcitonin 58 31 occasional (7.5%) Occasional (29-5%) HP:0003528
35 panic attack 58 31 occasional (7.5%) Occasional (29-5%) HP:0025269
36 cranial nerve compression 58 31 occasional (7.5%) Occasional (29-5%) HP:0001293
37 retinal capillary hemangioma 58 31 occasional (7.5%) Occasional (29-5%) HP:0009711
38 arachnoid hemangiomatosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0012222
39 aniridia 58 31 very rare (1%) Very rare (<4-1%) HP:0000526
40 paraganglioma 58 Very frequent (99-80%)
41 hypertension associated with pheochromocytoma 58 Frequent (79-30%)

UMLS symptoms related to Hereditary Paraganglioma-Pheochromocytoma Syndromes:


aphonia

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.66 NF1 RET SDHD VHL
2 Decreased viability GR00221-A-2 9.66 MAX NF1 RET SDHD VHL
3 Decreased viability GR00221-A-3 9.66 MAX
4 Decreased viability GR00221-A-4 9.66 NF1 RET SDHD
5 Decreased viability GR00249-S 9.66 NF1 SDHD VHL
6 Decreased viability GR00301-A 9.66 RET VHL
7 Decreased viability GR00381-A-1 9.66 SDHD
8 Decreased viability GR00386-A-1 9.66 MAX NF1
9 Decreased viability GR00402-S-2 9.66 RET
10 Decreased sensitivity to paclitaxel GR00112-A-0 8.65 NF1

MGI Mouse Phenotypes related to Hereditary Paraganglioma-Pheochromocytoma Syndromes:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.07 FH GDNF MAX MPZ NF1 RET
2 growth/size/body region MP:0005378 10.07 DLST GDNF KIF1B MAX MDH2 MPZ
3 homeostasis/metabolism MP:0005376 9.93 DLST FH KIF1B MPZ NF1 RET
4 embryo MP:0005380 9.92 KIF1B MAX MDH2 NF1 RET SDHAF2
5 mortality/aging MP:0010768 9.8 FH GDNF KIF1B MAX MDH2 MPZ
6 neoplasm MP:0002006 9.1 NF1 RET SDHB SDHC SDHD VHL

Drugs & Therapeutics for Hereditary Paraganglioma-Pheochromocytoma Syndromes

Drugs for Hereditary Paraganglioma-Pheochromocytoma Syndromes (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 73)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Doxazosin Approved Phase 3 74191-85-8 3157
2
Phenoxybenzamine Approved Phase 3 59-96-1 4768
3 Adrenergic alpha-Antagonists Phase 3
4 Antihypertensive Agents Phase 3
5 Adrenergic Antagonists Phase 3
6 Vasodilator Agents Phase 3
7 Adrenergic alpha-1 Receptor Antagonists Phase 3
8
Everolimus Approved Phase 2 159351-69-6 70789204 6442177
9
Pembrolizumab Approved Phase 2 1374853-91-4
10
Ipilimumab Approved Phase 2 477202-00-9
11
Sunitinib Approved, Investigational Phase 2 557795-19-4, 341031-54-7 5329102
12
Axitinib Approved, Investigational Phase 2 319460-85-0 6450551
13
Lenvatinib Approved, Investigational Phase 2 417716-92-8
14
Epinephrine Approved, Vet_approved Phase 1, Phase 2 51-43-4 5816
15
nivolumab Approved Phase 1, Phase 2 946414-94-4
16
Racepinephrine Approved Phase 1, Phase 2 329-65-7 838
17
lanreotide Approved Phase 2 108736-35-2
18
Olaparib Approved Phase 2 763113-22-0 23725625
19
Temozolomide Approved, Investigational Phase 2 85622-93-1 5394
20
Parathyroid hormone Approved, Investigational Phase 2 9002-64-6
21
Atezolizumab Approved, Investigational Phase 2 1380723-44-3
22
Somatostatin Approved, Investigational Phase 1, Phase 2 38916-34-6, 51110-01-1 53481605
23
Octreotide Approved, Investigational Phase 1, Phase 2 83150-76-9 383414 6400441
24 Guadecitabine Investigational Phase 2 929901-49-5
25 Immunosuppressive Agents Phase 2
26 Immunologic Factors Phase 2
27
Erlotinib Hydrochloride Phase 2 183319-69-9 176871
28 Endothelial Growth Factors Phase 2
29 Mitogens Phase 2
30 Pharmaceutical Solutions Phase 2
31 Fluorodeoxyglucose F18 Phase 2
32 Immunoglobulins Phase 2
33 Antibodies Phase 2
34 Antibodies, Monoclonal Phase 2
35 Antineoplastic Agents, Immunological Phase 2
36 Protein Kinase Inhibitors Phase 2
37 Angiogenesis Inhibitors Phase 2
38 Vaccines Phase 1, Phase 2
39 Epinephryl borate Phase 1, Phase 2
40 Angiopeptin Phase 2
41 Alkylating Agents Phase 2
42 Poly(ADP-ribose) Polymerase Inhibitors Phase 2
43 Edotreotide Phase 1, Phase 2
44 Radiopharmaceuticals Phase 1, Phase 2
45 Antineoplastic Agents, Hormonal Phase 1, Phase 2
46 Gastrointestinal Agents Phase 1, Phase 2
47
Vorinostat Approved, Investigational Phase 1 149647-78-9 5311
48
Vinorelbine Approved, Investigational Phase 1 71486-22-1 60780 44424639
49
Clotrimazole Approved, Vet_approved Phase 1 23593-75-1 2812
50
Miconazole Approved, Investigational, Vet_approved Phase 1 22916-47-8 4189

Interventional clinical trials:

(show top 50) (show all 66)
# Name Status NCT ID Phase Drugs
1 Phase IV Trial to Use Stereotactic Body Radiotherapy for Head and Neck Tumors Completed NCT01344356 Phase 4
2 123I-MIBG Scintigraphy in Patients Being Evaluated for Neuroendocrine Tumors Unknown status NCT01373736 Phase 3 123I-meta-iodobenzylguanidine
3 High Dose Indium-111 Pentetreotide Therapy in Somatostatin Receptor Expressing Neuroendocrine Neoplasms. Completed NCT00442533 Phase 2, Phase 3 Indium-111 pentetreotide
4 Randomized Controlled Trial of Preoperative Alpha Blockade for Pheochromocytoma Recruiting NCT03176693 Phase 3 Phenoxybenzamine;Doxazosin
5 177Lutetium-DOTA-Octreotate Therapy in Somatostatin Receptor-Expressing Neuroendocrine Neoplasms Unknown status NCT01237457 Phase 2 177Lu-DOTATATE
6 A Phase 2 Study of Dovitinib in Adults With Advanced Malignant Pheochromocytoma or Paraganglioma Completed NCT01635907 Phase 2 Dovitinib
7 A Phase I Study Evaluating the Maximum Tolerated Dose, Dosimetry, Safety, and Efficacy of Ultratrace Iobenguane I 131 in Patients With Malignant Pheochromocytoma/Paraganglioma Completed NCT00458952 Phase 1, Phase 2 Ultratrace Iobenguane (MIBG) I 131
8 Phase II Study of RAD001monotherapy in Patients With Unresectable Pheochromocytoma or Extra-adrenal Paraganglioma or Non-functioning Carcinoid Completed NCT01152827 Phase 2 RAD001
9 A Phase II Study of 131I-labeled Metaiodobenzylguanidine (MIBG) for Treatment of Patients With Metastatic or Unresectable Pheochromocytoma and Related Tumors Completed NCT01413503 Phase 2
10 A Phase II Trial of the DNA Methyl Transferase Inhibitor, SGI-110 (Guadecitabine), In Children And Adults With Wild Type GIST, Pheochromocytoma And Paraganglioma Associated With Succinate Dehydrogenase Deficiency And HLRCC-Associated Kidney Cancer Completed NCT03165721 Phase 2 SGI-110 (guadecitabine)
11 A Phase II Study to Evaluate the Safety and Efficacy of RAD001 Plus Erlotinib in Patients With Well- to Moderately-Differentiated Neuroendocrine Tumors Completed NCT00843531 Phase 2 RAD001;erlotinib
12 A Phase 2 Study of Linsitinib (OSI-906) in Pediatric and Adult Wild Type Gastrointestinal Stromal Tumors Completed NCT01560260 Phase 2 Linsitinib
13 First International Randomized Study in Malignant Progressive Pheochromocytoma and Paraganglioma (PPGL) Recruiting NCT01371201 Phase 2 Sunitinib;Placebo
14 Phase II Study of Axitinib (AG-013736) With Evaluation of the VEGF-pathway in Metastatic, Recurrent or Primary Unresectable Pheochromocytoma/Paraganglioma Recruiting NCT03839498 Phase 2 Axitinib
15 A Phase II Study to Evaluate the Effects of Cabozantinib in Patients With Unresectable Metastatic Pheochromocytomas and Paragangliomas Recruiting NCT02302833 Phase 2 Cabozantinib S-malate
16 Phase 2 Study of ONC201 in Neuroendocrine Tumors Recruiting NCT03034200 Phase 2 ONC201
17 Open Access Protocol of Targeted Radiotherapy With I-metaiodobenzylguanidine (I-MIBG) in Patients With Resistant Neuroblastoma or Malignant Chromaffin Cell Tumors Recruiting NCT00107289 Phase 2
18 Lu-177-DOTATATE (Lutathera) in Therapy of Inoperable Pheochromocytoma/ Paraganglioma Recruiting NCT03206060 Phase 2 Lu-177-DOTATATE;Ga-68-DOTATATE;F-18-FDG;Amino Acid solution
19 Clinical Study of the Use of Yttrium-90 (90Y) and/or Lutecium-177 (177Lu) DOTATATE (DOTA-0-Tyr3-Octreotate) in the Treatment of Disseminated and / or Symptomatic Tumors With Somatostatin Receptor Overexpression Recruiting NCT04029428 Phase 2 90Y-DOTATATE;(177Lu-DOTAOTyr3)Octreotate;90Y DOTATATE and 177Lu DOTATATE (mix each of 50%)
20 Phase II Study for the Evaluation of Efficacy of Pembrolizumab (MK-3475) in Patients With Rare Tumors Recruiting NCT02721732 Phase 2
21 DART: Dual Anti-CTLA-4 and Anti-PD-1 Blockade in Rare Tumors Recruiting NCT02834013 Phase 2
22 A Investigator Initiated Phase II Study Of Sunitinib In Patients With Recurrent Paraganglioma/Pheochromocytoma Active, not recruiting NCT00843037 Phase 2 Sunitinib
23 Phase II Trial of Lenvatinib in Metastatic or Advanced Pheochromocytoma and Paraganglioma Active, not recruiting NCT03008369 Phase 2 Lenvatinib
24 A Phase II Study Evaluating the Efficacy and Safety of Ultratrace Iobenguane I 131 in Patients With Malignant Relapsed/Refractory Pheochromocytoma/Paraganglioma Active, not recruiting NCT00874614 Phase 2
25 Phase II Study of Axitinib (AG-013736) With Evaluation of the VEGF-pathway in Metastatic, Recurrent or Primary Unresectable Pheochromocytoma/Paraganglioma Active, not recruiting NCT01967576 Phase 2 Axitinib (AG-013736)
26 A Phase 1/2 Trial of a Novel Therapeutic Vaccine (EO2401) in Combination With Immune Check Point Blockade, for Treatment of Patients With Locally Advanced or Metastatic Adrenocortical Carcinoma, or Malignant Pheochromocytoma/Paraganglioma Not yet recruiting NCT04187404 Phase 1, Phase 2
27 Exploratory Phase II Study of LAnreotide in Metastatic Pheochromocytoma/PARAganglioma (LAMPARA) Not yet recruiting NCT03946527 Phase 2 Lanreotide
28 A Phase II, Non-Randomized, Open-Label, Single-center, Physician Sponsored, Study to Determine the Safety and Effectiveness of 177LuDOTATOC in Adult Subjects With STTR(+) Pulmonary, Pheochromocytoma, Paraganglioma, Unknown Primary, Thymus Neuroendocrine Tumors (PUTNET) Not yet recruiting NCT04276597 Phase 2 177Lu-DOTATOC
29 Phase I/II Trial of Peptide Receptor Radiotherapy (PRRT) With 177Lu-DOTA-tyr3 OCTREOTATE (177Lu-DOTATATE) in Children With Neuroendocrine Tumor, Neuroblastoma, or Pheochromocytoma/Paraganglioma Not yet recruiting NCT03923257 Phase 1, Phase 2 177Lu-DOTA-tyr3-OCTREOTATE
30 A Prospective, Multi-Institutional Phase II Trial Evaluating Temozolomide vs. Temozolomide and Olaparib for Advanced Pheochromocytoma and Paraganglioma Not yet recruiting NCT04394858 Phase 2 Olaparib;Temozolomide
31 A Phase II Study to Evaluate the Effects of 177Lu-DOTATATE in Patients With Unresectable and Progressive Rare Metastatic Endocrine Carcinomas: Medullary Thyroid Cancer, Parathyroid Carcinoma, Pituitary Carcinoma, and Malignant Pheochromocytoma/Paraganglioma Not yet recruiting NCT04106843 Phase 2 Lutetium Lu 177 Dotatate
32 Exploratory Basket Trial of Cabozantinib Plus Atezolizumab in Advanced and Progressive Neoplasms of the Endocrine System. CABATEN Study Not yet recruiting NCT04400474 Phase 2 Cabozantinib 40 mg
33 A Phase 2 Study of Pazopanib (GW786034) in Patients With Advanced and Progressive Malignant Pheochromocytoma or Paraganglioma Terminated NCT01340794 Phase 2 Pazopanib Hydrochloride
34 Evaluation of Gallium-68 DOTA-TOC Imaging of Somatostatin Receptor Positive Malignancies Terminated NCT02177773 Phase 1, Phase 2 Gallium Ga 68-Edotreotide
35 Dexmedetomidine Compared to Midazolam for Symptom Control in Advanced Cancer Patients: A Pilot Randomized Controlled Trial (RCT) Withdrawn NCT01687751 Phase 2 Dexmedetomidine;Midazolam
36 Phase 1 Study Evaluating the Safety, Distribution, Metabolism, and Radiation Dosimetry of ULTRATRACE Iobenguane I 131 in Patients With Malignant Pheochromocytoma/Paraganglioma or Metastatic Carcinoid Completed NCT00339131 Phase 1 Ultratrace iobenguane I 131
37 A Phase I Study of SAHA and Temozolomide in Children With Relapsed or Refractory Primary Brain or Spinal Cord Tumors Completed NCT01076530 Phase 1 vorinostat;temozolomide
38 Phase I Clinical Trial of Temsirolimus and Vinorelbine in Advanced Solid Tumors. Completed NCT01155258 Phase 1 temsirolimus;vinorelbine ditartrate
39 Phase I Study of Anti-IGF-1R Monoclonal Antibody, IMC-A12, and mTOR Inhibitor, Everolimus, in Advanced Low to Intermediate Grade Neuroendocrine Carcinoma Completed NCT01204476 Phase 1 Everolimus;Octreotide Acetate
40 Diagnosis, Pathophysiology, and Molecular Biology of Pheochromocytoma and Paraganglioma Recruiting NCT00004847 Phase 1 ([18F]-DOPA);[68Ga]-DOTATATE;([18F]-6F-DA)
41 A Phase I Trial of Vandetanib Combined With 131I-mIBG Radiotherapy in Patients With Neuroendocrine Tumours, Advanced Phaeochromocytoma and Paraganglioma Withdrawn NCT01941849 Phase 1 Vandetanib
42 Performance of an Omics-signature in the Diagnosis and Prognosis of Endocrine and Primary Hypertension Unknown status NCT02772315
43 Comparison of Diagnostic Performances of 68Ga-DOTATATE PET-CT and 18F-FDOPA PET-CT in Paragangliomas and Pheochromocytomas Evaluation: Monocentric Prospective Study Unknown status NCT02186678
44 Expanded Access Program of AZEDRA (Ultratrace Iobenguane I131) in Subjects With Malignant Relapsed/Refractory Pheochromocytoma/Paraganglioma: A Sub-study of Protocol MIP-IB12B Approved for marketing NCT02961491 Ultratrace Iobenguane I131
45 Compassionate Use of 131I-MIBG for Patients With Malignant Pheochromocytoma Approved for marketing NCT01377532 131 I-Metaiodobenzylguanidine (131 I-MIBG)
46 Evaluation Des méthodes de dépistage du Paragangliome héréditaire Chez Les Sujets prédisposés génétiquement Completed NCT00188019
47 Clinical Application of New Pheochromocytoma Markers: INSERM Pilot Study of the Specificity of Elevated Plasma EM66 Concentrations in Patients With Pheochromocytoma or Paraganglioma Compared to Patients With Essential Hypertension Completed NCT01022515
48 Feasibility of 123I-IBZM Scintigraphy (a D2 Agonist) in Patients With Pheochromocytoma (PHEO) and/or Paraganglioma (PGL) : Study Pilot Completed NCT00875407
49 Phase IV Trial Evaluating the Use of Stereotactic Body Radiotherapy for the Treatment of Spine Metastases and Primary Spine Tumors Completed NCT01347307
50 Imaging of Neuroendocrine Tumors With PET and Fluoro-18-DOPA (F-DOPA) Completed NCT02539433

Search NIH Clinical Center for Hereditary Paraganglioma-Pheochromocytoma Syndromes

Genetic Tests for Hereditary Paraganglioma-Pheochromocytoma Syndromes

Genetic tests related to Hereditary Paraganglioma-Pheochromocytoma Syndromes:

# Genetic test Affiliating Genes
1 Hereditary Paraganglioma-Pheochromocytoma Syndromes 29 MAX

Anatomical Context for Hereditary Paraganglioma-Pheochromocytoma Syndromes

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

40
Testes, Adrenal Gland, Kidney, Tongue, Thyroid, Pituitary, Lung

Publications for Hereditary Paraganglioma-Pheochromocytoma Syndromes

Articles related to Hereditary Paraganglioma-Pheochromocytoma Syndromes:

(show top 50) (show all 178)
# Title Authors PMID Year
1
A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. 6 24
25394175 2015
2
Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline. 6 24
24893135 2014
3
Germline SDHA mutation detected by next-generation sequencing in a young index patient with large paraganglioma. 24 6
23750034 2013
4
High prevalence of founder mutations of the succinate dehydrogenase genes in the Netherlands. 24 6
21348866 2012
5
SDHA immunohistochemistry detects germline SDHA gene mutations in apparently sporadic paragangliomas and pheochromocytomas. 24 6
21752896 2011
6
SDHA is a tumor suppressor gene causing paraganglioma. 24 6
20484225 2010
7
SDH5, a gene required for flavination of succinate dehydrogenase, is mutated in paraganglioma. 6 24
19628817 2009
8
Penetrance and clinical consequences of a gross SDHB deletion in a large family. 6 24
19389109 2009
9
Gross SDHB deletions in patients with paraganglioma detected by multiplex PCR: a possible hot spot? 24 6
16258955 2006
10
Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes. 24 6
16317055 2006
11
An Alu-mediated partial SDHC deletion causes familial and sporadic paraganglioma. 24 6
15342702 2004
12
Altitude is a phenotypic modifier in hereditary paraganglioma type 1: evidence for an oxygen-sensing defect. 24 6
12811540 2003
13
Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas. 24 6
11897817 2002
14
Genetic aspects of nonchromaffin paraganglioma. 6 24
6286462 1982
15
Hereditary Paraganglioma-Pheochromocytoma Syndromes 6 61
20301715 2008
16
Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma. 61 6
16405730 2006
17
The utility of SDHB and FH immunohistochemistry in patients evaluated for hereditary paraganglioma-pheochromocytoma syndromes. 61 24
29079178 2018
18
Von Hippel-Lindau and Hereditary Pheochromocytoma/Paraganglioma Syndromes: Clinical Features, Genetics, and Surveillance Recommendations in Childhood. 61 24
28620007 2017
19
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 6
27854360 2017
20
Low penetrance of paraganglioma and pheochromocytoma in an extended kindred with a germline SDHB exon 3 deletion. 6
25827221 2016
21
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 6
25356965 2015
22
American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers. 6
24493721 2014
23
Canadian guideline on genetic screening for hereditary renal cell cancers. 6
24319509 2013
24
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 6
23788249 2013
25
Succinate dehydrogenase gene variants and their role in Cowden syndrome. 6
21565294 2011
26
Defects in succinate dehydrogenase in gastrointestinal stromal tumors lacking KIT and PDGFRA mutations. 6
21173220 2011
27
Endocrine cancer predisposition syndromes: hereditary paraganglioma, multiple endocrine neoplasia type 1, multiple endocrine neoplasia type 2, and hereditary thyroid cancer. 6
20816580 2010
28
Carney triad versus Carney Stratakis syndrome: two cases which illustrate the difficulty in distinguishing between these conditions in individual patients. 6
20119652 2010
29
Paraganglioma, neuroblastoma, and a SDHB mutation: Resolution of a 30-year-old mystery. 6
20503330 2010
30
American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility. 6
20065170 2010
31
A germline mutation of the KIF1B beta gene on 1p36 in a family with neural and nonneural tumors. 6
18726616 2008
32
Paraganglioma after maternal transmission of a succinate dehydrogenase gene mutation. 6
18211978 2008
33
Molecular characterisation of a common SDHB deletion in paraganglioma patients. 6
18057081 2008
34
The kinesin KIF1Bbeta acts downstream from EglN3 to induce apoptosis and is a potential 1p36 tumor suppressor. 6
18334619 2008
35
Evidence of MEN-2 in the original description of classic pheochromocytoma. 6
17898100 2007
36
Polymorphisms in exon 13 and intron 14 of the RET protooncogene: genetic modifiers of medullary thyroid carcinoma? 6
16118333 2005
37
Coincidence of multiple endocrine neoplasia types 1 and 2: mutations in the RET protooncogene and MEN1 tumor suppressor gene in a family presenting with recurrent primary hyperparathyroidism. 6
15870131 2005
38
Large germline deletions of mitochondrial complex II subunits SDHB and SDHD in hereditary paraganglioma. 6
15531530 2004
39
Genetic and epigenetic profile of sporadic pheochromocytomas. 6
14985401 2004
40
A novel succinate dehydrogenase subunit B gene mutation, H132P, causes familial malignant sympathetic extraadrenal paragangliomas. 6
14715873 2004
41
SDHD mutation analysis in seven German patients with sporadic carotid body paraganglioma: one novel mutation, no Dutch founder mutation and further evidence that G12S is a polymorphism. 6
15032977 2004
42
Early-onset renal cell carcinoma as a novel extraparaganglial component of SDHB-associated heritable paraganglioma. 6
14685938 2004
43
Autosomal dominant malignant and catecholamine-producing paraganglioma caused by a splice donor site mutation in SDHC. 6
12658451 2003
44
Mutations in the VHL gene in sporadic apparently congenital polycythemia. 6
12393546 2003
45
A novel Val648Ile substitution in RET protooncogene observed in a Cys634Arg multiple endocrine neoplasia type 2A kindred presenting with an adrenocorticotropin-producing pheochromocytoma. 6
12466368 2002
46
VHL2C phenotype in a German von Hippel-Lindau family with concurrent VHL germline mutations P81S and L188V. 6
12414898 2002
47
Familial malignant catecholamine-secreting paraganglioma with prolonged survival associated with mutation in the succinate dehydrogenase B gene. 6
12213855 2002
48
Identification of novel SDHD mutations in patients with phaeochromocytoma and/or paraganglioma. 6
12111639 2002
49
Germ-line mutations in nonsyndromic pheochromocytoma. 6
12000816 2002
50
The R22X mutation of the SDHD gene in hereditary paraganglioma abolishes the enzymatic activity of complex II in the mitochondrial respiratory chain and activates the hypoxia pathway. 6
11605159 2001

Variations for Hereditary Paraganglioma-Pheochromocytoma Syndromes

ClinVar genetic disease variations for Hereditary Paraganglioma-Pheochromocytoma Syndromes:

6 (show top 50) (show all 667) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TMEM127 NM_001193304.3(TMEM127):c.117_120del (p.Ile41fs)deletion Pathogenic 397511 rs121908816 2:96931000-96931003 2:96265262-96265265
2 SDHB NM_003000.2(SDHB):c.329_330CT[1] (p.Leu111fs)short repeat Pathogenic 412453 rs1060503751 1:17355186-17355187 1:17028691-17028692
3 MAX NC_000014.9:g.(?_65101546)_(65102544_?)deldeletion Pathogenic 417325 14:65568264-65569262 14:65101546-65102544
4 MAX NM_002382.5(MAX):c.211_221del (p.Ile71fs)deletion Pathogenic 404110 rs1060500101 14:65544705-65544715 14:65077987-65077997
5 SDHC NM_003001.5(SDHC):c.407_*1del (p.Met136_Ter170delinsXaa)deletion Pathogenic 438443 rs1553266474 1:161332119-161332223 1:161362329-161362433
6 SDHB NM_003000.2(SDHB):c.761dup (p.Pro254_Lys255insTer)duplication Pathogenic 438429 rs34309090 1:17349106-17349107 1:17022611-17022612
7 SDHB NM_003000.2(SDHB):c.736A>T (p.Ile246Phe)SNV Pathogenic 438427 rs146800605 1:17349132-17349132 1:17022637-17022637
8 SDHB NM_003000.2(SDHB):c.683_684delAGshort repeat Pathogenic 438428 rs762812025 1:17349184-17349185 1:17022689-17022690
9 SDHB NM_003000.2(SDHB):c.642+1G>ASNV Pathogenic 438425 rs1131691052 1:17350467-17350467 1:17023972-17023972
10 SDHB NM_003000.2(SDHB):c.553G>T (p.Glu185Ter)SNV Pathogenic 438424 rs1045881797 1:17350557-17350557 1:17024062-17024062
11 SDHB NM_003000.2(SDHB):c.523_527delinsAAGG (p.Glu175fs)indel Pathogenic 438421 rs1553177672 1:17354257-17354261 1:17027762-17027766
12 SDHB NM_003000.2(SDHB):c.490C>T (p.Gln164Ter)SNV Pathogenic 438423 rs1553177679 1:17354294-17354294 1:17027799-17027799
13 SDHB NM_003000.2(SDHB):c.445_447delinsGGTATCT (p.Gln149fs)indel Pathogenic 438422 rs1553177687 1:17354337-17354339 1:17027842-17027844
14 SDHB NM_003000.2(SDHB):c.392del (p.Pro131fs)deletion Pathogenic 438416 rs1553177739 1:17355126-17355126 1:17028631-17028631
15 SDHB NM_003000.2(SDHB):c.369_370insA (p.Val124fs)insertion Pathogenic 438415 rs1553177742 1:17355148-17355149 1:17028653-17028654
16 SDHB NM_003000.2(SDHB):c.275C>A (p.Ser92Ter)SNV Pathogenic 438413 rs1553178040 1:17359566-17359566 1:17033071-17033071
17 SDHB NM_003000.2(SDHB):c.274T>C (p.Ser92Pro)SNV Pathogenic 438414 rs1553178041 1:17359567-17359567 1:17033072-17033072
18 SDHB NM_003000.2(SDHB):c.183T>G (p.Tyr61Ter)SNV Pathogenic 438412 rs760169139 1:17371273-17371273 1:17044778-17044778
19 SDHB NM_003000.2(SDHB):c.73-9A>GSNV Pathogenic 438411 rs1553178757 1:17371392-17371392 1:17044897-17044897
20 SDHB NM_003000.2(SDHB):c.1_72del (p.Met1_Gln24del)deletion Pathogenic 438410 rs1553179313 1:17380443-17380514 1:17053948-17054019
21 SDHD NM_003002.4(SDHD):c.170-1G>TSNV Pathogenic 438434 rs1306475361 11:111959590-111959590 11:112088866-112088866
22 SDHD NM_003002.4(SDHD):c.315_480del (p.Trp105fs)deletion Pathogenic 438442 rs1555187570 11:111965529-111965694 11:112094805-112094970
23 SDHD NM_003002.4(SDHD):c.342T>A (p.Tyr114Ter)SNV Pathogenic 438437 rs1050032491 11:111965556-111965556 11:112094832-112094832
24 SDHD NM_003002.4(SDHD):c.381del (p.Leu128fs)deletion Pathogenic 438439 rs1555187601 11:111965593-111965593 11:112094869-112094869
25 SDHB NM_003000.2(SDHB):c.1_843deldeletion Pathogenic 438430
26 SDHB NM_003000.2:c.73_846deldeletion Pathogenic 438431
27 SDHB NM_003000.2(SDHB):c.287_540deldeletion Pathogenic 438432
28 SDHD NM_003002.3:c.1_169deldeletion Pathogenic 438441
29 TMEM127 NM_017849.3(TMEM127):c.469C>T (p.Gln157Ter)SNV Pathogenic 463849 rs780133289 2:96919794-96919794 2:96254056-96254056
30 TMEM127 NM_017849.3(TMEM127):c.124_125del (p.Thr42fs)deletion Pathogenic 463835 rs1553437737 2:96930995-96930996 2:96265257-96265258
31 TMEM127 NM_017849.3(TMEM127):c.283del (p.Val95fs)deletion Pathogenic 463843 rs1553437028 2:96920697-96920697 2:96254959-96254959
32 TMEM127 NM_017849.3(TMEM127):c.158G>A (p.Trp53Ter)SNV Pathogenic 463839 rs121908818 2:96930962-96930962 2:96265224-96265224
33 MAX NC_000014.9:g.(?_65093702)_(65102345_?)deldeletion Pathogenic 463802 14:65560420-65569063 14:65093702-65102345
34 SDHAF2 NM_017841.2(SDHAF2):c.177dup (p.Asp60Ter)duplication Pathogenic 532513 rs1554984631 11:61205236-61205237 11:61437764-61437765
35 MAX NM_002382.5(MAX):c.228del (p.Asn78fs)deletion Pathogenic 532511 rs1555340550 14:65544698-65544698 14:65077980-65077980
36 MAX NM_002382.5(MAX):c.219T>A (p.Tyr73Ter)SNV Pathogenic 532507 rs1193255946 14:65544707-65544707 14:65077989-65077989
37 TMEM127 NM_017849.3(TMEM127):c.337del (p.Leu113fs)deletion Pathogenic 575997 rs1558752468 2:96920643-96920643 2:96254905-96254905
38 TMEM127 NM_017849.3(TMEM127):c.7del (p.Ala3fs)deletion Pathogenic 569937 rs1558756727 2:96931113-96931113 2:96265375-96265375
39 TMEM127 NC_000002.12:g.(?_96253798)_(96265391_?)deldeletion Pathogenic 584288 2:96919536-96931129 2:96253798-96265391
40 TMEM127 NM_017849.3(TMEM127):c.397del (p.His133fs)deletion Pathogenic 575099 rs1558752379 2:96920583-96920583 2:96254845-96254845
41 MAX NM_002382.5(MAX):c.120del (p.Asp41fs)deletion Pathogenic 652863 14:65560477-65560477 14:65093759-65093759
42 MAX NC_000014.9:g.(?_65101536)_(65102349_?)deldeletion Pathogenic 642041 14:65568254-65569067 14:65101536-65102349
43 TMEM127 NC_000002.12:g.(?_96253808)_(96265399_?)deldeletion Pathogenic 832384 2:96919546-96931137
44 MAX NC_000014.9:g.(?_65093698)_(65102349_?)deldeletion Pathogenic 833228 14:65560416-65569067
45 TMEM127 NM_017849.4(TMEM127):c.530del (p.Phe177fs)deletion Pathogenic 862047 2:96919733-96919733 2:96253995-96253995
46 TMEM127 NM_017849.4(TMEM127):c.370A>T (p.Lys124Ter)SNV Pathogenic 834781 2:96920610-96920610 2:96254872-96254872
47 TMEM127 NM_017849.4(TMEM127):c.2T>G (p.Met1Arg)SNV Pathogenic 857168 2:96931118-96931118 2:96265380-96265380
48 SDHAF2 NM_017841.4(SDHAF2):c.199del (p.Arg67fs)deletion Pathogenic 835577 11:61205256-61205256 11:61437784-61437784
49 MAX NM_002382.5(MAX):c.236_237AC[5] (p.Gln82fs)short repeat Pathogenic 842127 14:65544682-65544683 14:65077964-65077965
50 MAX NM_002382.5(MAX):c.295+2_295+3deldeletion Pathogenic 834944 14:65544628-65544629 14:65077910-65077911

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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.97 SDHD SDHC SDHB SDHA MDH2 FH
2 12.21 SDHAF2 SDHA MDH2 FH DLST
3
Show member pathways
12.02 SDHD SDHC SDHB SDHA MDH2 FH
4
Show member pathways
11.62 SDHD SDHC SDHB SDHA MDH2 FH
5 11.52 SDHA MDH2 FH DLST
6
Show member pathways
11.18 SDHD SDHC SDHB SDHA MDH2 FH

GO Terms for Hereditary Paraganglioma-Pheochromocytoma Syndromes

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.7 VHL SLC25A11 SDHD SDHC SDHB SDHAF2
2 mitochondrial inner membrane GO:0005743 9.65 SLC25A11 SDHD SDHC SDHB SDHA
3 mitochondrial matrix GO:0005759 9.62 SDHAF2 MDH2 FH DLST
4 respiratory chain complex II GO:0045273 9.16 SDHC SDHB
5 mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) GO:0005749 8.92 SDHD SDHC SDHB SDHA

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.89 SDHD SDHC SDHB SDHA MDH2
2 electron transport chain GO:0022900 9.58 SDHC SDHB SDHA
3 respiratory electron transport chain GO:0022904 9.48 SDHB SDHA
4 sympathetic nervous system development GO:0048485 9.46 NF1 GDNF
5 enteric nervous system development GO:0048484 9.43 RET GDNF
6 positive regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001241 9.37 RET NF1
7 aerobic respiration GO:0009060 9.33 SDHC SDHB MDH2
8 malate metabolic process GO:0006108 9.32 MDH2 FH
9 succinate metabolic process GO:0006105 9.26 SDHB SDHA
10 mitochondrial electron transport, succinate to ubiquinone GO:0006121 9.26 SDHD SDHC SDHAF2 SDHA
11 tricarboxylic acid cycle GO:0006099 9.23 SDHD SDHC SDHB SDHAF2 SDHA MDH2

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

# Name GO ID Score Top Affiliating Genes
1 ubiquinone binding GO:0048039 9.26 SDHD SDHB
2 electron transfer activity GO:0009055 9.26 SDHD SDHC SDHB SDHA
3 succinate dehydrogenase (ubiquinone) activity GO:0008177 9.16 SDHB SDHA
4 succinate dehydrogenase activity GO:0000104 8.8 SDHD SDHC SDHA

Sources for Hereditary Paraganglioma-Pheochromocytoma Syndromes

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