MCID: HRD031
MIFTS: 47

Hereditary Paraganglioma-Pheochromocytoma Syndromes

Categories: Rare diseases, Cardiovascular diseases, Nephrological diseases, Endocrine diseases, Genetic 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 53 25 59
Hereditary Paraganglioma-Pheochromocytoma 53 25
Familial Pheochromocytoma-Paraganglioma 53 59
Paragangliomas 4 25 73
Paragangliomas 2 25 73
Paragangliomas 3 25 73
Familial Paraganglioma-Pheochromocytoma Syndromes 25
Hereditary Paragangliomas and Pheochromocytomas 6
Sdhx-Related Paraganglioma-Pheochromocytoma 53
Familial Nonchromaffin Paragangliomas 24
Familial Paraganglioma Syndrome 25
Familial Glomus Tumors 24
Paragangliomas 1 25
Paraganglioma 73
Fpgl/pheo 25
Fpgl 25

Characteristics:

Orphanet epidemiological data:

59
hereditary pheochromocytoma-paraganglioma
Inheritance: Autosomal dominant; Age of onset: Childhood; Age of death: adult;

GeneReviews:

24
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:



Summaries for Hereditary Paraganglioma-Pheochromocytoma Syndromes

NIH Rare Diseases : 53 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.

MalaCards based summary : Hereditary Paraganglioma-Pheochromocytoma Syndromes, also known as hereditary pheochromocytoma-paraganglioma, is related to paragangliomas 1 and paraganglioma, 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 Pathways in cancer and Glucose / Energy Metabolism. Affiliated tissues include testes, tongue and adrenal gland, and related phenotypes are extraadrenal pheochromocytoma and adrenal 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.

GeneReviews: NBK1548

Related Diseases for Hereditary Paraganglioma-Pheochromocytoma Syndromes

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

(show all 36)
# Related Disease Score Top Affiliating Genes
1 paragangliomas 1 31.9 SDHB SDHC SDHD TIMM8B
2 paraganglioma 27.0 MAX RET SDHA SDHAF2 SDHB SDHC
3 pheochromocytoma 26.8 FH KIF1B MAX RET SDHA SDHAF2
4 acromegaly 11.3
5 paragangliomas 4 11.3
6 paragangliomas 2 11.3
7 paragangliomas 3 11.3
8 cowden syndrome 3 10.5 SDHD TIMM8B
9 glomus tumor 10.3 SDHB SDHD
10 chondroma 10.3 SDHB SDHC SDHD
11 lymphatic system disease 10.2 SDHB SDHC SDHD
12 multiple endocrine neoplasia, type iia 10.1 RET SDHB SDHD
13 hereditary leiomyomatosis and renal cell cancer 10.1 FH SDHB
14 extra-adrenal pheochromocytoma 10.1 SDHAF2 SDHB SDHC SDHD
15 multiple endocrine neoplasia, type i 10.0 RET SDHB SDHD
16 renal oncocytoma 10.0 MAX SDHB
17 bone disease 10.0
18 paraganglioma and gastric stromal sarcoma 9.9 SDHB SDHC SDHD TIMM8B
19 fumarate hydratase deficiency 9.9 FH VHL
20 cowden disease 9.8 RET SDHB SDHC SDHD
21 endocrine gland cancer 9.8 RET SDHB SDHC SDHD
22 seminal vesicle tumor 9.8 SDHA SDHB
23 aging 9.8
24 familial renal papillary carcinoma 9.6 FH RET
25 adrenal medulla cancer 9.6 RET SDHAF2 SDHB SDHC SDHD
26 multiple endocrine neoplasia 9.6 RET SDHB SDHC VHL
27 carney triad 9.3 SDHA SDHB SDHC SDHD
28 neurofibromatosis, type iv, of riccardi 9.3 RET SDHB SDHC SDHD VHL
29 von hippel-lindau syndrome 9.3 RET SDHB SDHC SDHD VHL
30 gastrointestinal stromal tumor 9.3 SDHA SDHB SDHC SDHD
31 neural crest tumor 9.1 SDHA SDHAF2 SDHB SDHC SDHD
32 mitochondrial complex ii deficiency 9.1 SDHA SDHAF2 SDHB SDHC SDHD
33 sporadic pheochromocytoma 9.1 MAX RET SDHB SDHC SDHD VHL
34 persistent generalized lymphadenopathy 8.9 SDHA SDHAF2 SDHB SDHC SDHD TMEM127
35 lymph node disease 8.8 SDHA SDHAF2 SDHB SDHC SDHD TMEM127
36 phaeochromocytoma 8.8 RET SDHAF2 SDHB SDHC SDHD TMEM127

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:

59 32 (show all 41)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 extraadrenal pheochromocytoma 59 32 hallmark (90%) Very frequent (99-80%) HP:0006737
2 adrenal pheochromocytoma 59 32 hallmark (90%) Very frequent (99-80%) HP:0006748
3 proteinuria 59 32 frequent (33%) Frequent (79-30%) HP:0000093
4 glomerulosclerosis 59 32 frequent (33%) Frequent (79-30%) HP:0000096
5 episodic paroxysmal anxiety 59 32 frequent (33%) Frequent (79-30%) HP:0000740
6 episodic hyperhidrosis 59 32 frequent (33%) Frequent (79-30%) HP:0001069
7 hypertensive retinopathy 59 32 frequent (33%) Frequent (79-30%) HP:0001095
8 cerebral hemorrhage 59 32 frequent (33%) Frequent (79-30%) HP:0001342
9 dysphonia 59 32 frequent (33%) Frequent (79-30%) HP:0001618
10 weight loss 59 32 frequent (33%) Frequent (79-30%) HP:0001824
11 palpitations 59 32 frequent (33%) Frequent (79-30%) HP:0001962
12 nausea 59 32 frequent (33%) Frequent (79-30%) HP:0002018
13 recurrent paroxysmal headache 59 32 frequent (33%) Frequent (79-30%) HP:0002331
14 episodic abdominal pain 59 32 frequent (33%) Frequent (79-30%) HP:0002574
15 paraganglioma of head and neck 59 32 frequent (33%) Frequent (79-30%) HP:0002864
16 hypercalcemia 59 32 frequent (33%) Frequent (79-30%) HP:0003072
17 elevated urinary norepinephrine 59 32 frequent (33%) Frequent (79-30%) HP:0003345
18 positive regitine blocking test 59 32 frequent (33%) Frequent (79-30%) HP:0003574
19 elevated urinary epinephrine 59 32 frequent (33%) Frequent (79-30%) HP:0003639
20 pulsatile tinnitus 59 32 frequent (33%) Frequent (79-30%) HP:0008629
21 paroxysmal vertigo 59 32 frequent (33%) Frequent (79-30%) HP:0010532
22 sinus tachycardia 59 32 frequent (33%) Frequent (79-30%) HP:0011703
23 elevated urinary dopamine 59 32 frequent (33%) Frequent (79-30%) HP:0011979
24 fatigue 59 32 frequent (33%) Frequent (79-30%) HP:0012378
25 flushing 59 32 frequent (33%) Frequent (79-30%) HP:0031284
26 chest pain 59 32 frequent (33%) Frequent (79-30%) HP:0100749
27 conductive hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000405
28 hematuria 59 32 occasional (7.5%) Occasional (29-5%) HP:0000790
29 pallor 59 32 occasional (7.5%) Occasional (29-5%) HP:0000980
30 cranial nerve compression 59 32 occasional (7.5%) Occasional (29-5%) HP:0001293
31 tremor 59 32 occasional (7.5%) Occasional (29-5%) HP:0001337
32 vocal cord paralysis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001605
33 congestive heart failure 59 32 occasional (7.5%) Occasional (29-5%) HP:0001635
34 elevated calcitonin 59 32 occasional (7.5%) Occasional (29-5%) HP:0003528
35 renal cell carcinoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0005584
36 retinal capillary hemangioma 59 32 occasional (7.5%) Occasional (29-5%) HP:0009711
37 arachnoid hemangiomatosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0012222
38 panic attack 59 32 occasional (7.5%) Occasional (29-5%) HP:0025269
39 aniridia 59 32 very rare (1%) Very rare (<4-1%) HP:0000526
40 paraganglioma 59 Very frequent (99-80%)
41 hypertension associated with pheochromocytoma 59 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 9.58 RET SDHD VHL
2 Decreased viability GR00221-A-2 9.58 MAX RET SDHD VHL
3 Decreased viability GR00221-A-3 9.58 MAX
4 Decreased viability GR00221-A-4 9.58 RET SDHD
5 Decreased viability GR00231-A 9.58 RET
6 Decreased viability GR00301-A 9.58 RET VHL
7 Decreased viability GR00381-A-1 9.58 SDHD
8 Decreased viability GR00402-S-2 9.58 MAX RET SDHD VHL

Drugs & Therapeutics for Hereditary Paraganglioma-Pheochromocytoma Syndromes

Interventional clinical trials:


# 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:

# 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:

41
Testes, Tongue, Adrenal Gland, Kidney, Heart, Bone

Publications for Hereditary Paraganglioma-Pheochromocytoma Syndromes

Articles related to Hereditary Paraganglioma-Pheochromocytoma Syndromes:

# Title Authors Year
1
The utility of SDHB and FH immunohistochemistry in patients evaluated for hereditary paraganglioma-pheochromocytoma syndromes. ( 29079178 )
2018
2
The Hereditary Paraganglioma-Pheochromocytoma Syndrome: No Time to Waste-Reply. ( 28837712 )
2017
3
Multimodality Radionuclide Imaging in a Patient With Hereditary Paraganglioma-Pheochromocytoma Syndrome. ( 28902732 )
2017
4
The Hereditary Paraganglioma-Pheochromocytoma Syndrome: No Time to Waste. ( 28837713 )
2017
5
Palliation of Extensive Metastatic Bone Disease With 223Ra-Dichloride I+-Particle Therapy in a Patient With Malignant Hereditary Paraganglioma-Pheochromocytoma Syndrome With SDHB Mutation. ( 26359562 )
2016
6
Combined Treatment With 131I-MIBG and Sunitinib Induces Remission in a Patient With Metastatic Paraganglioma Due to Hereditary Paraganglioma-Pheochromocytoma Syndrome From an SDHB Mutation. ( 26359568 )
2016
7
Hereditary paraganglioma-pheochromocytoma syndromes associated with SDHD and RET mutations. ( 24375508 )
2013
8
Hereditary Paraganglioma-Pheochromocytoma Syndromes ( 20301715 )
1993

Variations for Hereditary Paraganglioma-Pheochromocytoma Syndromes

ClinVar genetic disease variations for Hereditary Paraganglioma-Pheochromocytoma Syndromes:

6
(show top 50) (show all 547)
# 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 SDHAF2 NM_017841.2(SDHAF2): c.232G> A (p.Gly78Arg) single nucleotide variant Pathogenic rs113560320 GRCh38 Chromosome 11, 61437820: 61437820
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.112C> T (p.Arg38Ter) single nucleotide variant Pathogenic rs80338843 GRCh38 Chromosome 11, 112087916: 112087916
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.242C> T (p.Pro81Leu) single nucleotide variant Pathogenic rs80338844 GRCh38 Chromosome 11, 112088939: 112088939
7 SDHD NM_003002.3(SDHD): c.274G> T (p.Asp92Tyr) single nucleotide variant Pathogenic rs80338845 GRCh37 Chromosome 11, 111959695: 111959695
8 SDHD NM_003002.3(SDHD): c.274G> T (p.Asp92Tyr) single nucleotide variant Pathogenic rs80338845 GRCh38 Chromosome 11, 112088971: 112088971
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.341A> G (p.Tyr114Cys) single nucleotide variant Pathogenic rs104894304 GRCh38 Chromosome 11, 112094831: 112094831
11 SDHD NM_003002.3(SDHD): c.95C> A (p.Ser32Ter) single nucleotide variant Pathogenic rs104894305 GRCh37 Chromosome 11, 111958623: 111958623
12 SDHD NM_003002.3(SDHD): c.95C> A (p.Ser32Ter) single nucleotide variant Pathogenic rs104894305 GRCh38 Chromosome 11, 112087899: 112087899
13 SDHD NM_003002.3(SDHD): c.3G> C (p.Met1Ile) single nucleotide variant Pathogenic rs80338842 GRCh37 Chromosome 11, 111957634: 111957634
14 SDHD NM_003002.3(SDHD): c.3G> C (p.Met1Ile) single nucleotide variant Pathogenic rs80338842 GRCh38 Chromosome 11, 112086910: 112086910
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.416T> C (p.Leu139Pro) single nucleotide variant Pathogenic rs80338847 GRCh38 Chromosome 11, 112094906: 112094906
17 SDHD NM_003002.3(SDHD): c.57delG (p.Leu20Cysfs) deletion Pathogenic rs587776649 GRCh38 Chromosome 11, 112087861: 112087861
18 SDHD NM_003002.3(SDHD): c.57delG (p.Leu20Cysfs) deletion Pathogenic rs587776649 GRCh37 Chromosome 11, 111958585: 111958585
19 SDHC NM_003001.3(SDHC): c.405+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs587776653 GRCh37 Chromosome 1, 161326631: 161326631
20 SDHC NM_003001.3(SDHC): c.405+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs587776653 GRCh38 Chromosome 1, 161356841: 161356841
21 SDHB NM_003000.2(SDHB): c.268C> T (p.Arg90Ter) single nucleotide variant Pathogenic rs74315366 GRCh37 Chromosome 1, 17359573: 17359573
22 SDHB NM_003000.2(SDHB): c.268C> T (p.Arg90Ter) single nucleotide variant Pathogenic rs74315366 GRCh38 Chromosome 1, 17033078: 17033078
23 SDHB NM_003000.2(SDHB): c.590C> G (p.Pro197Arg) single nucleotide variant Likely pathogenic rs74315367 GRCh37 Chromosome 1, 17350520: 17350520
24 SDHB NM_003000.2(SDHB): c.590C> G (p.Pro197Arg) single nucleotide variant Likely pathogenic rs74315367 GRCh38 Chromosome 1, 17024025: 17024025
25 SDHB NM_003000.2(SDHB): c.725G> A (p.Arg242His) single nucleotide variant Pathogenic rs74315368 GRCh37 Chromosome 1, 17349143: 17349143
26 SDHB NM_003000.2(SDHB): c.725G> A (p.Arg242His) single nucleotide variant Pathogenic rs74315368 GRCh38 Chromosome 1, 17022648: 17022648
27 SDHB NM_003000.2(SDHB): c.79C> T (p.Arg27Ter) single nucleotide variant Pathogenic rs74315369 GRCh37 Chromosome 1, 17371377: 17371377
28 SDHB NM_003000.2(SDHB): c.79C> T (p.Arg27Ter) single nucleotide variant Pathogenic rs74315369 GRCh38 Chromosome 1, 17044882: 17044882
29 SDHB NM_003000.2(SDHB): c.418G> T (p.Val140Phe) single nucleotide variant Pathogenic/Likely pathogenic rs267607032 GRCh37 Chromosome 1, 17355100: 17355100
30 SDHB NM_003000.2(SDHB): c.418G> T (p.Val140Phe) single nucleotide variant Pathogenic/Likely pathogenic rs267607032 GRCh38 Chromosome 1, 17028605: 17028605
31 SDHD NM_003002.3(SDHD): c.284T> C (p.Leu95Pro) single nucleotide variant Pathogenic rs80338846 GRCh37 Chromosome 11, 111959705: 111959705
32 SDHD NM_003002.3(SDHD): c.284T> C (p.Leu95Pro) single nucleotide variant Pathogenic rs80338846 GRCh38 Chromosome 11, 112088981: 112088981
33 MAX NM_002382.4(MAX): c.223C> T (p.Arg75Ter) single nucleotide variant Pathogenic rs387906650 GRCh37 Chromosome 14, 65544703: 65544703
34 MAX NM_002382.4(MAX): c.223C> T (p.Arg75Ter) single nucleotide variant Pathogenic rs387906650 GRCh38 Chromosome 14, 65077985: 65077985
35 MAX NM_002382.4(MAX): c.97C> T (p.Arg33Ter) single nucleotide variant Pathogenic rs387906651 GRCh37 Chromosome 14, 65560500: 65560500
36 MAX NM_002382.4(MAX): c.97C> T (p.Arg33Ter) single nucleotide variant Pathogenic rs387906651 GRCh38 Chromosome 14, 65093782: 65093782
37 SDHB NM_003000.2(SDHB): c.423+1G> A single nucleotide variant Pathogenic rs398122805 GRCh37 Chromosome 1, 17355094: 17355094
38 SDHB NM_003000.2(SDHB): c.423+1G> A single nucleotide variant Pathogenic rs398122805 GRCh38 Chromosome 1, 17028599: 17028599
39 SDHC NM_003001.3(SDHC): c.43C> T (p.Arg15Ter) single nucleotide variant Pathogenic rs201286421 GRCh37 Chromosome 1, 161293426: 161293426
40 SDHC NM_003001.3(SDHC): c.43C> T (p.Arg15Ter) single nucleotide variant Pathogenic rs201286421 GRCh38 Chromosome 1, 161323636: 161323636
41 SDHB NM_003000.2(SDHB): c.287-1G> C single nucleotide variant Pathogenic/Likely pathogenic rs397516833 GRCh37 Chromosome 1, 17355232: 17355232
42 SDHB NM_003000.2(SDHB): c.287-1G> C single nucleotide variant Pathogenic/Likely pathogenic rs397516833 GRCh38 Chromosome 1, 17028737: 17028737
43 SDHB NM_003000.2(SDHB): c.600G> A (p.Trp200Ter) single nucleotide variant Pathogenic/Likely pathogenic rs397516836 GRCh37 Chromosome 1, 17350510: 17350510
44 SDHB NM_003000.2(SDHB): c.600G> A (p.Trp200Ter) single nucleotide variant Pathogenic/Likely pathogenic rs397516836 GRCh38 Chromosome 1, 17024015: 17024015
45 TMEM127 NM_017849.3(TMEM127): c.265_268delACAG (p.Thr89Cysfs) deletion Likely pathogenic rs121908822 GRCh37 Chromosome 2, 96920712: 96920715
46 TMEM127 NM_017849.3(TMEM127): c.265_268delACAG (p.Thr89Cysfs) deletion Likely pathogenic rs121908822 GRCh38 Chromosome 2, 96254974: 96254977
47 SDHB NM_003000.2(SDHB): c.286+2T> A single nucleotide variant Pathogenic rs587781270 GRCh37 Chromosome 1, 17359553: 17359553
48 SDHB NM_003000.2(SDHB): c.286+2T> A single nucleotide variant Pathogenic rs587781270 GRCh38 Chromosome 1, 17033058: 17033058
49 SDHB NM_003000.2(SDHB): c.575G> A (p.Cys192Tyr) single nucleotide variant Pathogenic rs397516835 GRCh37 Chromosome 1, 17350535: 17350535
50 SDHB NM_003000.2(SDHB): c.575G> A (p.Cys192Tyr) single nucleotide variant Pathogenic rs397516835 GRCh38 Chromosome 1, 17024040: 17024040

Expression for Hereditary Paraganglioma-Pheochromocytoma Syndromes

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

Pathways for Hereditary Paraganglioma-Pheochromocytoma Syndromes

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 9.65 FH KIF1B MDH2 SDHA SDHAF2 SDHB
2 mitochondrial inner membrane GO:0005743 9.63 MDH2 SDHA SDHB SDHC SDHD TIMM8B
3 respiratory chain complex II GO:0045273 9.26 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:

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.8 MDH2 SDHA SDHB SDHC SDHD
2 electron transport chain GO:0022900 9.54 SDHA SDHB SDHC
3 respiratory electron transport chain GO:0022904 9.43 SDHA SDHB
4 aerobic respiration GO:0009060 9.33 MDH2 SDHB SDHC
5 succinate metabolic process GO:0006105 9.32 SDHA SDHB
6 malate metabolic process GO:0006108 9.26 FH MDH2
7 mitochondrial electron transport, succinate to ubiquinone GO:0006121 9.26 SDHA SDHAF2 SDHC SDHD
8 tricarboxylic acid cycle GO:0006099 9.17 FH MDH2 SDHA SDHAF2 SDHB SDHC

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

# Name GO ID Score Top Affiliating Genes
1 electron transfer 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 activity GO:0000104 9.13 SDHA SDHC SDHD
5 succinate dehydrogenase (ubiquinone) activity GO:0008177 8.92 SDHA SDHB SDHC SDHD

Sources for Hereditary Paraganglioma-Pheochromocytoma Syndromes

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69 SNOMED-CT via HPO
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