MCID: CTC004
MIFTS: 30

Catecholamine-Producing Tumor

Categories: Endocrine diseases, Rare diseases

Aliases & Classifications for Catecholamine-Producing Tumor

MalaCards integrated aliases for Catecholamine-Producing Tumor:

Name: Catecholamine-Producing Tumor 58

Characteristics:

Orphanet epidemiological data:

58
catecholamine-producing tumor
Inheritance: Autosomal dominant,Not applicable; Age of onset: All ages; Age of death: any age;

Classifications:

Orphanet: 58  
Rare endocrine diseases


External Ids:

Orphanet 58 ORPHA717

Summaries for Catecholamine-Producing Tumor

MalaCards based summary : Catecholamine-Producing Tumor is related to malignant pheochromocytoma and paragangliomas 1. An important gene associated with Catecholamine-Producing Tumor is GDNF (Glial Cell Derived Neurotrophic Factor), and among its related pathways/superpathways are Signaling events regulated by Ret tyrosine kinase and RNAi Pathway. Affiliated tissues include adrenal gland, thyroid and testes, and related phenotypes are hypertension and pheochromocytoma

Related Diseases for Catecholamine-Producing Tumor

Diseases related to Catecholamine-Producing Tumor via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 63)
# Related Disease Score Top Affiliating Genes
1 malignant pheochromocytoma 30.0 SDHB MAX
2 paragangliomas 1 29.5 SDHD SDHB RET
3 neuroblastoma 29.1 SDHB RET MAX KIF1B GDNF
4 multiple endocrine neoplasia 29.1 VHL SDHB RET GDNF
5 pheochromocytoma 28.9 VHL TMEM127 SDHD SDHB RET NPPA
6 paraganglioma 27.6 VHL TMEM127 SDHD SDHB RET MAX
7 neurofibromatosis, type iv, of riccardi 27.5 VHL TMEM127 SDHD SDHB RET MAX
8 adrenal gland pheochromocytoma 10.4
9 medullary sponge kidney 10.2 RET GDNF
10 hypoganglionosis 10.2 RET GDNF
11 multiple mucosal neuroma 10.2 RET GDNF
12 goldberg-shprintzen syndrome 10.1 RET GDNF
13 thyroid gland medullary carcinoma 10.1 RET GDNF
14 thyroid gland follicular carcinoma 10.1 RET GDNF
15 neural crest tumor 10.0 SDHD SDHB
16 pyloric stenosis 10.0 RET GDNF
17 gastric leiomyosarcoma 10.0 SDHD SDHB
18 renal oncocytoma 10.0 SDHB MAX
19 extracranial neuroblastoma 10.0 SDHD SDHB
20 paraganglioma and gastric stromal sarcoma 10.0 SDHD SDHB
21 carney triad 10.0 SDHD SDHB
22 glomus tumor 9.9 SDHD SDHB
23 achalasia 9.9 RET GDNF
24 atrial standstill 1 9.9
25 hypertension, essential 9.9
26 neurofibromatosis, type i 9.9
27 neuroblastoma 1 9.9
28 lymphangioma 9.9
29 olfactory neuroblastoma 9.9
30 adrenal adenoma 9.9
31 adenoma 9.9
32 hyperthyroidism 9.9
33 hypertrophic cardiomyopathy 9.9
34 rare lymphatic malformation 9.9
35 mitochondrial complex ii deficiency 9.9 SDHD SDHB
36 carney complex variant 9.9 SDHD RET
37 intestinal obstruction 9.9 RET GDNF
38 megacolon 9.7 RET GDNF
39 cowden syndrome 9.7 SDHD SDHB RET
40 autosomal genetic disease 9.7 SDHD SDHB RET
41 retinal hemangioblastoma 9.6 VHL TMEM127
42 thyroid carcinoma, familial medullary 9.6 VHL RET GDNF
43 chondroma 9.6 TMEM127 SDHD SDHB
44 leiomyomatosis 9.6 VHL SDHB
45 renal cell carcinoma, papillary, 1 9.5 VHL SDHB RET
46 cerebellar angioblastoma 9.4 VHL SDHD SDHB
47 extra-adrenal pheochromocytoma 9.3 TMEM127 SDHD SDHB RET
48 lymph node disease 9.3 TMEM127 SDHD SDHB RET
49 endocrine organ benign neoplasm 9.3 TMEM127 SDHD SDHB RET
50 contractures, pterygia, and variable skeletal fusions syndrome 1a 9.3 TMEM127 SDHD SDHB RET

Graphical network of the top 20 diseases related to Catecholamine-Producing Tumor:



Diseases related to Catecholamine-Producing Tumor

Symptoms & Phenotypes for Catecholamine-Producing Tumor

Human phenotypes related to Catecholamine-Producing Tumor:

58 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertension 58 31 hallmark (90%) Very frequent (99-80%) HP:0000822
2 pheochromocytoma 58 31 hallmark (90%) Very frequent (99-80%) HP:0002666
3 adrenal hyperplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008221
4 neoplasm of the adrenal medulla 58 31 hallmark (90%) Very frequent (99-80%) HP:0100642
5 abnormality of the adrenal glands 58 Very frequent (99-80%)

GenomeRNAi Phenotypes related to Catecholamine-Producing Tumor 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

MGI Mouse Phenotypes related to Catecholamine-Producing Tumor:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.73 GDNF KIF1B NPPA RET SDHD VHL
2 hematopoietic system MP:0005397 9.7 GDNF NPPA RET SDHB SDHD TMEM127
3 muscle MP:0005369 9.35 GDNF KIF1B NPPA RET VHL
4 renal/urinary system MP:0005367 9.02 GDNF NPPA RET SDHB VHL

Drugs & Therapeutics for Catecholamine-Producing Tumor

Search Clinical Trials , NIH Clinical Center for Catecholamine-Producing Tumor

Genetic Tests for Catecholamine-Producing Tumor

Anatomical Context for Catecholamine-Producing Tumor

MalaCards organs/tissues related to Catecholamine-Producing Tumor:

40
Adrenal Gland, Thyroid, Testes, Liver, Lymph Node, Kidney

Publications for Catecholamine-Producing Tumor

Articles related to Catecholamine-Producing Tumor:

(show top 50) (show all 57)
# Title Authors PMID Year
1
Biochemical testing for neuroblastoma using plasma free 3-O-methyldopa, 3-methoxytyramine, and normetanephrine. 61
31724812 2020
2
Catastrophic catecholamine-induced cardiomyopathy rescued by extracorporeal membrane oxygenation in recurrent malignant pheochromocytoma. 61
31620641 2019
3
3T MRI evaluation of regional catecholamine-producing tumor-induced myocardial injury. 61
30959487 2019
4
Paraganglioma of the spermatic cord: A case report and literature review. 61
31288201 2019
5
[Adrenal incidentaloma : Diagnostic and therapeutic concept from an endocrinological perspective]. 61
30353360 2019
6
A rare case report of hypertrophic cardiomyopathy induced by catecholamine-producing tumor. 61
30557989 2018
7
Laparoscopic management of paraganglioma in a pregnant woman: a case report. 61
29570256 2018
8
Surgical strategy for an adult patient with a catecholamine-producing ganglioneuroblastoma and a cerebral aneurysm: a case report. 61
30225726 2018
9
A Case Report of Cystic Pheochromocytoma. 61
28740068 2017
10
A Case of Retroperitoneal Paraganglioma. 61
28626127 2017
11
Extracorporeal membrane oxygenation for pheochromocytoma-induced cardiogenic shock. 61
27896787 2016
12
Cushing Syndrome Due to ACTH-Secreting Pheochromocytoma, Aggravated by Glucocorticoid-Driven Positive-Feedback Loop. 61
26700559 2016
13
Pheochromocytoma after Cesarean Section. 61
27076898 2016
14
Somatic RET mutation in a patient with pigmented adrenal pheochromocytoma. 61
26843961 2016
15
Obstructive sleep apnea presenting as pseudopheochromocytoma. 61
27217898 2016
16
Pheochromocytoma in a Pregnant Woman With Prior Traumatic Aortic Injury. 61
26132454 2015
17
[An incidental finding of retrocaval extraadrenal pheochromocytoma]. 61
26169994 2015
18
Primary malignant lymphoma combined with clinically "silent" pheochromocytoma in the same adrenal gland. 61
26419235 2015
19
Thunderclap-like headache triggered by micturition and angina as an initial manifestation of bladder pheochromocytoma. A case report. 61
25424777 2015
20
Rare cause of ventricular tachycardia: Pheochromocytoma. 61
30534261 2015
21
Adrenal Lymphangioma Masquerading as a Catecholamine Producing Tumor. 61
26618011 2015
22
Pheochromocytoma found in Takotsubo cardiomyopathy patients. 61
24907091 2014
23
Pheochromocytoma diagnosed after anticoagulation for atrial fibrillation ablation procedure: a giant in disguise. 61
24780129 2014
24
Role of VEGF-A and its receptors in sporadic and MEN2-associated pheochromocytoma. 61
24675699 2014
25
Radioimmunoassay of free plasma metanephrines for the diagnosis of catecholamine-producing tumors. 61
24088613 2014
26
Anesthetic management of a pregnant woman undergoing laparoscopic surgery for pheochromocytoma -A case report-. 61
23646250 2013
27
Anesthetic management for resection of hepatic paraganglioma metastatic from the donor organ in an orthotopic liver transplant recipient: a case report. 61
23498826 2013
28
Persistent Hiccups-An Unusual Presentation of Bilateral Pheochromocytoma without Syndromic Association: A Case Report. 61
22953071 2012
29
Role of cortical sparing adrenalectomy and novel variant of mutation in patient with von Hippel-Lindau disease. 61
22145147 2011
30
Cardiovascular collapse after labetalol for hypertensive crisis in an undiagnosed pheochromocytoma during cesarean section. 61
21729814 2011
31
Pheochromocytoma presenting as recurrent urinary tract infections : a case report. 61
21226896 2011
32
Thunderclap headache without hypertension in a patient with pheochromocytoma. 61
20625917 2010
33
Effects of somatostatin analog SOM230 on cell proliferation, apoptosis, and catecholamine levels in cultured pheochromocytoma cells. 61
18502819 2008
34
Association of pheochromocytoma and ganglioneuroma: unusual finding in neurofibromatosis type 1. 61
17954422 2007
35
ErbB-2 induces bilateral adrenal pheochromocytoma formation in mice. 61
17671425 2007
36
Pheochromocytoma as a catecholamine producing tumor: implications for clinical practice. 61
17514588 2007
37
A case of sleep apnea syndrome manifesting severe hypertension with high plasma norepinephrine levels. 61
16717398 2006
38
Acute appendicitis in a patient with undiagnosed pheochromocytoma. 61
16428577 2006
39
Detecting pheochromocytoma: defining the most sensitive test. 61
16371743 2006
40
A novel succinate dehydrogenase subunit B gene mutation, H132P, causes familial malignant sympathetic extraadrenal paragangliomas. 61
14715873 2004
41
Quercetin, an over-the-counter supplement, causes neuroblastoma-like elevation of plasma homovanillic acid. 61
15018454 2003
42
[A case of pheochromocytoma with hyperamylasemia]. 61
14532724 2003
43
[Right atrial pheochromocytoma]. 61
12783740 2003
44
[Malignant pheochromocytoma. Personal experience, review of the literature]. 61
12661231 2002
45
Surgery and anesthesia for pheochromocytoma--a series of 40 operations. 61
10998847 2000
46
Increased plasma atrial natriuretic factor in catecholamine-producing tumor patients. 61
10513832 1999
47
Pheochromocytoma: evaluation, diagnosis, and treatment. 61
10096149 1999
48
A clinical diagnosis of urinary bladder (extra-adrenal) phaeochromocytoma. 61
7484526 1995
49
Diurnal variation of blood pressure in patients with catecholamine-producing tumors. 61
7917145 1994
50
[Diagnosis and surgical treatment of extra-adrenal pheochromocytoma]. 61
8436047 1993

Variations for Catecholamine-Producing Tumor

Expression for Catecholamine-Producing Tumor

Search GEO for disease gene expression data for Catecholamine-Producing Tumor.

Pathways for Catecholamine-Producing Tumor

Pathways related to Catecholamine-Producing Tumor according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.2 RET GDNF
2 9.43 RET GDNF

GO Terms for Catecholamine-Producing Tumor

Cellular components related to Catecholamine-Producing Tumor 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 Catecholamine-Producing Tumor according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell differentiation GO:0045597 9.32 VHL GDNF
2 neural crest cell migration GO:0001755 9.26 RET GDNF
3 ureteric bud development GO:0001657 9.16 RET GDNF
4 tricarboxylic acid cycle GO:0006099 8.96 SDHD SDHB
5 enteric nervous system development GO:0048484 8.62 RET GDNF

Molecular functions related to Catecholamine-Producing Tumor according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ubiquinone binding GO:0048039 8.96 SDHD SDHB
2 succinate dehydrogenase (ubiquinone) activity GO:0008177 8.62 SDHD SDHB

Sources for Catecholamine-Producing Tumor

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
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