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MCID: SPR068
MIFTS: 29

Sporadic Pheochromocytoma/secreting Paraganglioma

Categories: Endocrine diseases, Rare diseases
Genes Tissues Related diseases Pathways Symptoms & Phenotypes
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Aliases & Classifications for Sporadic Pheochromocytoma/secreting Paraganglioma

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MalaCards integrated aliases for Sporadic Pheochromocytoma/secreting Paraganglioma:

Name: Sporadic Pheochromocytoma/secreting Paraganglioma 58

Characteristics:

Orphanet epidemiological data:

58
sporadic pheochromocytoma/secreting paraganglioma
Inheritance: Not applicable;

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Endocrine diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare endocrine diseases


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Summaries for Sporadic Pheochromocytoma/secreting Paraganglioma

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MalaCards based summary : Sporadic Pheochromocytoma/secreting Paraganglioma is related to testicular spermatocytic seminoma and erythrocytosis, familial, 4. An important gene associated with Sporadic Pheochromocytoma/secreting Paraganglioma is DNMT3A (DNA Methyltransferase 3 Alpha), and among its related pathways/superpathways are Pathways in cancer and Citrate cycle (TCA cycle). Affiliated tissues include adrenal gland, heart and thyroid, and related phenotypes are adrenal pheochromocytoma and extraadrenal pheochromocytoma

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Related Diseases for Sporadic Pheochromocytoma/secreting Paraganglioma

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Diseases related to Sporadic Pheochromocytoma/secreting Paraganglioma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 53)
# Related Disease Score Top Affiliating Genes
1 testicular spermatocytic seminoma 10.1 RET DNMT3A
2 erythrocytosis, familial, 4 10.0 VHL EPAS1
3 retinal hemangioblastoma 10.0 VHL EPAS1
4 hemangioblastoma 10.0 VHL EPAS1
5 erythrocytosis, familial, 2, autosomal recessive 10.0 VHL EPAS1
6 primary polycythemia 10.0 VHL EPAS1
7 polycythemia 10.0 VHL EPAS1
8 thyroid carcinoma, familial medullary 9.8 VHL RET
9 leiomyomatosis 9.7 VHL SDHB
10 neural crest tumor 9.7 SDHD SDHB
11 gastric leiomyosarcoma 9.7 SDHD SDHB
12 oncocytoma 9.7 VHL SDHB
13 carney triad 9.6 SDHD SDHB
14 chondroma 9.6 SDHD SDHB
15 carney complex variant 9.6 SDHD RET
16 glomus tumor 9.6 SDHD SDHB
17 mitochondrial complex ii deficiency 9.6 SDHD SDHB
18 multiple endocrine neoplasia 9.6 VHL SDHB RET
19 primary hyperoxaluria 9.6 RET DNMT3A
20 cowden syndrome 1 9.5 SDHB RET
21 kidney cancer 9.5 VHL SDHB EPAS1
22 clear cell renal cell carcinoma 9.4 VHL SDHB EPAS1
23 adrenal carcinoma 9.4 SDHD SDHB
24 paragangliomas 1 9.3 SDHD SDHB RET
25 cerebellar angioblastoma 9.3 VHL SDHD SDHB
26 extra-adrenal pheochromocytoma 9.3 SDHD SDHB RET
27 adrenal medulla cancer 9.3 SDHD SDHB RET
28 autonomic nervous system benign neoplasm 9.3 SDHD SDHB RET
29 peripheral nervous system benign neoplasm 9.3 SDHD SDHB RET
30 multiple endocrine neoplasia, type iib 9.3 SDHD SDHB RET
31 paraganglioma and gastric stromal sarcoma 9.3 SDHD SDHB RET
32 lymph node disease 9.3 SDHD SDHB RET
33 cowden syndrome 9.3 SDHD SDHB RET
34 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 9.3 SDHD SDHB RET
35 gastrointestinal stromal tumor 9.3 SDHD SDHB EPAS1
36 autosomal genetic disease 9.3 SDHD SDHB RET
37 thyroid gland cancer 9.2 SDHD SDHB RET
38 renal cell carcinoma, nonpapillary 9.1 VHL SDHB RET EPAS1
39 persistent generalized lymphadenopathy 9.0 SDHD SDHB RET EPAS1
40 pheochromocytoma-paraganglioma 8.9 VHL SDHD SDHB RET
41 hereditary paraganglioma-pheochromocytoma syndromes 8.9 VHL SDHD SDHB RET
42 multiple endocrine neoplasia, type i 8.9 VHL SDHD SDHB RET
43 multiple endocrine neoplasia, type iia 8.9 VHL SDHD SDHB RET
44 cardiovascular organ benign neoplasm 8.9 VHL SDHD SDHB RET
45 neurofibromatosis, type i 8.9 VHL SDHD SDHB RET
46 neurofibromatosis 8.9 VHL SDHD SDHB RET
47 endocrine organ benign neoplasm 8.9 VHL SDHD SDHB RET
48 von hippel-lindau syndrome 8.9 VHL SDHD SDHB RET
49 neuroendocrine tumor 8.9 VHL SDHD SDHB RET
50 renal cell carcinoma, papillary, 1 8.9 VHL SDHD SDHB RET

Graphical network of the top 20 diseases related to Sporadic Pheochromocytoma/secreting Paraganglioma:



Diseases related to Sporadic Pheochromocytoma/secreting Paraganglioma
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Symptoms & Phenotypes for Sporadic Pheochromocytoma/secreting Paraganglioma

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Human phenotypes related to Sporadic Pheochromocytoma/secreting Paraganglioma:

58 31 (show all 36)
# 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 panic attack 58 31 occasional (7.5%) Occasional (29-5%) HP:0025269
34 cranial nerve compression 58 31 occasional (7.5%) Occasional (29-5%) HP:0001293
35 paraganglioma 58 Very frequent (99-80%)
36 hypertension associated with pheochromocytoma 58 Frequent (79-30%)

GenomeRNAi Phenotypes related to Sporadic Pheochromocytoma/secreting Paraganglioma according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.77 RET SDHD VHL
2 Decreased viability GR00221-A-2 9.77 RET SDHD VHL
3 Decreased viability GR00221-A-4 9.77 RET SDHD
4 Decreased viability GR00249-S 9.77 SDHD VHL
5 Decreased viability GR00301-A 9.77 RET VHL
6 Decreased viability GR00381-A-1 9.77 SDHD
7 Decreased viability GR00402-S-2 9.77 RET

MGI Mouse Phenotypes related to Sporadic Pheochromocytoma/secreting Paraganglioma:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.83 DNMT3A EPAS1 RET SDHD VHL
2 embryo MP:0005380 9.8 DNMT3A EPAS1 RET SDHD VHL
3 hematopoietic system MP:0005397 9.8 DNMT3A EPAS1 RET SDHB SDHD VHL
4 endocrine/exocrine gland MP:0005379 9.77 DNMT3A RET SDHB SDHD VHL
5 homeostasis/metabolism MP:0005376 9.73 DNMT3A EPAS1 RET SDHB SDHD VHL
6 mortality/aging MP:0010768 9.63 DNMT3A EPAS1 RET SDHB SDHD VHL
7 muscle MP:0005369 9.26 DNMT3A EPAS1 RET VHL
8 neoplasm MP:0002006 8.92 RET SDHB SDHD VHL
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Drugs & Therapeutics for Sporadic Pheochromocytoma/secreting Paraganglioma

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Search Clinical Trials , NIH Clinical Center for Sporadic Pheochromocytoma/secreting Paraganglioma

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Genetic Tests for Sporadic Pheochromocytoma/secreting Paraganglioma

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Anatomical Context for Sporadic Pheochromocytoma/secreting Paraganglioma

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MalaCards organs/tissues related to Sporadic Pheochromocytoma/secreting Paraganglioma:

40
Adrenal Gland, Heart, Thyroid, Testes
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Publications for Sporadic Pheochromocytoma/secreting Paraganglioma

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Variations for Sporadic Pheochromocytoma/secreting Paraganglioma

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Expression for Sporadic Pheochromocytoma/secreting Paraganglioma

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Search GEO for disease gene expression data for Sporadic Pheochromocytoma/secreting Paraganglioma.
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Pathways for Sporadic Pheochromocytoma/secreting Paraganglioma

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Pathways related to Sporadic Pheochromocytoma/secreting Paraganglioma according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Pathways in cancer 36
12.06 VHL RET EPAS1
2
Citrate cycle (TCA cycle) 36
Show member pathways
 11.33 SDHD SDHB
3
Signaling events mediated by VEGFR1 and VEGFR2 1
Show member pathways
 11.22 VHL EPAS1
4
HIF-2-alpha transcription factor network 1
10.49 VHL EPAS1
5
Amplification and Expansion of Oncogenic Pathways as Metastatic Traits 1
9.85 VHL EPAS1
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GO Terms for Sporadic Pheochromocytoma/secreting Paraganglioma

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Cellular components related to Sporadic Pheochromocytoma/secreting Paraganglioma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) GO:0005749 8.62 SDHD SDHB

Biological processes related to Sporadic Pheochromocytoma/secreting Paraganglioma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061418 8.96 VHL EPAS1
2 tricarboxylic acid cycle GO:0006099 8.62 SDHD SDHB

Molecular functions related to Sporadic Pheochromocytoma/secreting Paraganglioma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 electron transfer activity GO:0009055 9.16 SDHD SDHB
2 transcription factor binding GO:0008134 9.13 VHL EPAS1 DNMT3A
3 ubiquinone binding GO:0048039 8.62 SDHD SDHB
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Sources for Sporadic Pheochromocytoma/secreting Paraganglioma

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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