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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, thyroid and heart, 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 primary polycythemia 10.0 VHL EPAS1
6 polycythemia 10.0 VHL EPAS1
7 nonsyndromic paraganglioma 10.0 SDHB RET
8 erythrocytosis, familial, 2 9.9 VHL EPAS1
9 thyroid carcinoma, familial medullary 9.8 VHL RET
10 neural crest tumor 9.8 SDHD SDHB
11 gastric leiomyosarcoma 9.8 SDHD SDHB
12 leiomyomatosis 9.8 VHL SDHB
13 paragangliomas 1 9.8 SDHD SDHB
14 carney triad 9.7 SDHD SDHB
15 cranial nerve palsy 9.7 SDHD SDHB
16 chondroma 9.7 SDHD SDHB
17 oncocytoma 9.7 VHL SDHB
18 mitochondrial complex ii deficiency, nuclear type 1 9.7 SDHD SDHB
19 glomus tumor 9.7 SDHD SDHB
20 kidney cancer 9.6 VHL SDHB EPAS1
21 neurofibromatosis, type ii 9.6 SDHD SDHB
22 plethora of newborn 9.6 SDHD SDHB EPAS1
23 cerebellar angioblastoma 9.5 VHL SDHD SDHB
24 extra-adrenal pheochromocytoma 9.5 SDHD SDHB RET
25 adrenal medulla cancer 9.5 SDHD SDHB RET
26 autonomic nervous system benign neoplasm 9.5 SDHD SDHB RET
27 peripheral nervous system benign neoplasm 9.5 SDHD SDHB RET
28 multiple endocrine neoplasia, type iib 9.5 SDHD SDHB RET
29 paraganglioma and gastric stromal sarcoma 9.5 SDHD SDHB RET
30 lymph node disease 9.5 SDHD SDHB RET
31 carney complex variant 9.5 SDHD SDHB RET
32 cowden syndrome 9.5 SDHD SDHB RET
33 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 9.5 SDHD SDHB RET
34 autosomal genetic disease 9.5 SDHD SDHB RET
35 thyroid gland cancer 9.5 SDHD SDHB RET
36 gastrointestinal stromal tumor 9.4 SDHD SDHB EPAS1
37 adrenal carcinoma 9.4 SDHD SDHB
38 renal cell carcinoma, nonpapillary 9.4 VHL SDHB RET EPAS1
39 persistent generalized lymphadenopathy 9.3 SDHD SDHB RET EPAS1
40 neuroendocrine tumor 9.3 SDHD SDHB RET EPAS1
41 pheochromocytoma-paraganglioma 9.3 VHL SDHD SDHB RET
42 multiple endocrine neoplasia, type i 9.2 VHL SDHD SDHB RET
43 multiple endocrine neoplasia, type iia 9.2 VHL SDHD SDHB RET
44 multiple endocrine neoplasia 9.2 VHL SDHD SDHB RET
45 cardiovascular organ benign neoplasm 9.2 VHL SDHD SDHB RET
46 hereditary paraganglioma-pheochromocytoma syndromes 9.2 VHL SDHD SDHB RET
47 endocrine organ benign neoplasm 9.2 VHL SDHD SDHB RET
48 neurofibromatosis 9.2 VHL SDHD SDHB RET
49 neurofibromatosis, type i 9.2 VHL SDHD SDHB RET
50 pheochromocytoma 9.0 VHL SDHD SDHB RET EPAS1

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 37)
# 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 dysphonia 58 31 frequent (33%) Frequent (79-30%) HP:0001618
4 proteinuria 58 31 frequent (33%) Frequent (79-30%) HP:0000093
5 fatigue 58 31 frequent (33%) Frequent (79-30%) HP:0012378
6 hypercalcemia 58 31 frequent (33%) Frequent (79-30%) HP:0003072
7 chest pain 58 31 frequent (33%) Frequent (79-30%) HP:0100749
8 weight loss 58 31 frequent (33%) Frequent (79-30%) HP:0001824
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 recurrent paroxysmal headache 58 31 frequent (33%) Frequent (79-30%) HP:0002331
14 nausea 58 31 frequent (33%) Frequent (79-30%) HP:0002018
15 paroxysmal vertigo 58 31 frequent (33%) Frequent (79-30%) HP:0010532
16 episodic paroxysmal anxiety 58 31 frequent (33%) Frequent (79-30%) HP:0000740
17 episodic hyperhidrosis 58 31 frequent (33%) Frequent (79-30%) HP:0001069
18 hypertensive retinopathy 58 31 frequent (33%) Frequent (79-30%) HP:0001095
19 paraganglioma of head and neck 58 31 frequent (33%) Frequent (79-30%) HP:0002864
20 elevated urinary norepinephrine 58 31 frequent (33%) Frequent (79-30%) HP:0003345
21 positive regitine blocking test 58 31 frequent (33%) Frequent (79-30%) HP:0003574
22 elevated urinary epinephrine 58 31 frequent (33%) Frequent (79-30%) HP:0003639
23 pulsatile tinnitus 58 31 frequent (33%) Frequent (79-30%) HP:0008629
24 elevated urinary dopamine 58 31 frequent (33%) Frequent (79-30%) HP:0011979
25 flushing 58 31 frequent (33%) Frequent (79-30%) HP:0031284
26 glomerular sclerosis 31 frequent (33%) HP:0000096
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 pallor 58 31 occasional (7.5%) Occasional (29-5%) HP:0000980
30 vocal cord paralysis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001605
31 hematuria 58 31 occasional (7.5%) Occasional (29-5%) HP:0000790
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 glomerulosclerosis 58 Frequent (79-30%)
37 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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.8 DNMT3A EPAS1 RET SDHD VHL
2 hematopoietic system MP:0005397 9.8 DNMT3A EPAS1 RET SDHB SDHD VHL
3 endocrine/exocrine gland MP:0005379 9.77 DNMT3A RET SDHB SDHD VHL
4 homeostasis/metabolism MP:0005376 9.73 DNMT3A EPAS1 RET SDHB SDHD VHL
5 mortality/aging MP:0010768 9.63 DNMT3A EPAS1 RET SDHB SDHD VHL
6 muscle MP:0005369 9.26 DNMT3A EPAS1 RET VHL
7 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, Thyroid, Heart
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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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
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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