MCID: CTC004
MIFTS: 29

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 59

Characteristics:

Orphanet epidemiological data:

59
catecholamine-producing tumor
Inheritance: Autosomal dominant,Not applicable; Age of onset: All ages; Age of death: any age;

Classifications:

Orphanet: 59  
Rare endocrine diseases


External Ids:

Orphanet 59 ORPHA717

Summaries for Catecholamine-Producing Tumor

MalaCards based summary : Catecholamine-Producing Tumor is related to paragangliomas 1 and multiple endocrine neoplasia. An important gene associated with Catecholamine-Producing Tumor is GDNF (Glial Cell Derived Neurotrophic Factor), and among its related pathways/superpathways are G-protein signaling_H-RAS regulation pathway and Signaling events regulated by Ret tyrosine kinase. Affiliated tissues include adrenal gland, testes and liver, 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 all 50)
# Related Disease Score Top Affiliating Genes
1 paragangliomas 1 29.6 SDHD SDHB RET
2 multiple endocrine neoplasia 29.0 VHL SDHB RET GDNF
3 pheochromocytoma 28.9 VHL TMEM127 SDHD SDHB RET MAX
4 neurofibromatosis, type iv, of riccardi 28.4 VHL SDHD SDHB RET
5 paraganglioma 27.5 VHL TMEM127 SDHD SDHB RET MAX
6 adrenal gland pheochromocytoma 10.4
7 medullary sponge kidney 10.4 RET GDNF
8 hypoganglionosis 10.4 RET GDNF
9 oligomeganephronia 10.3 RET GDNF
10 multiple endocrine neoplasia, type iib 10.3 RET GDNF
11 goldberg-shprintzen syndrome 10.3 RET GDNF
12 pyloric stenosis 10.2 RET GDNF
13 cakut 10.2 RET GDNF
14 intestinal obstruction 10.2 RET GDNF
15 neural crest tumor 10.1 SDHD SDHB
16 extra-adrenal pheochromocytoma 10.1 SDHD SDHB
17 megacolon 10.1 RET GDNF
18 chondroma 10.1 SDHD SDHB
19 paraganglioma and gastric stromal sarcoma 10.1 SDHD SDHB
20 neuroblastoma 1 10.1
21 carney triad 10.1 SDHD SDHB
22 plethora of newborn 10.1 SDHD SDHB
23 glomus tumor 10.1 SDHD SDHB
24 neuroma 10.0 RET GDNF
25 central hypoventilation syndrome, congenital 10.0 RET GDNF
26 mitochondrial complex ii deficiency 10.0 SDHD SDHB
27 renal hypodysplasia/aplasia 1 10.0 RET GDNF
28 atrial standstill 1 9.9
29 hypertension, essential 9.9
30 neurofibromatosis, type i 9.9
31 malignant pheochromocytoma 9.9
32 lymphangioma 9.9
33 olfactory neuroblastoma 9.9
34 adrenal adenoma 9.9
35 adenoma 9.9
36 hyperthyroidism 9.9
37 hypertrophic cardiomyopathy 9.9
38 rare lymphatic malformation 9.9
39 multiple endocrine neoplasia, type i 9.8 SDHD SDHB RET
40 adrenal medulla cancer 9.8 SDHD SDHB RET
41 colonic disease 9.8 RET GDNF
42 autosomal genetic disease 9.8 SDHD SDHB RET
43 persistent generalized lymphadenopathy 9.6 TMEM127 SDHD SDHB
44 lymph node disease 9.6 TMEM127 SDHD SDHB
45 lymphatic system disease 9.6 TMEM127 SDHD SDHB
46 multiple endocrine neoplasia, type iia 9.5 SDHD SDHB RET GDNF
47 endocrine organ benign neoplasm 9.2 TMEM127 SDHD SDHB RET
48 von hippel-lindau syndrome 9.0 VHL SDHD SDHB RET
49 sporadic pheochromocytoma 8.7 VHL SDHD SDHB RET MAX
50 hereditary paraganglioma-pheochromocytoma syndromes 7.8 VHL TMEM127 SDHD SDHB RET MAX

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:

59 32
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertension 59 32 hallmark (90%) Very frequent (99-80%) HP:0000822
2 pheochromocytoma 59 32 hallmark (90%) Very frequent (99-80%) HP:0002666
3 adrenal hyperplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0008221
4 neoplasm of the adrenal medulla 59 32 hallmark (90%) Very frequent (99-80%) HP:0100642
5 abnormality of the adrenal glands 59 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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.95 GDNF NPPA RET SDHB SDHD TMEM127
2 cardiovascular system MP:0005385 9.93 GDNF KIF1B NPPA RET SDHD VHL
3 homeostasis/metabolism MP:0005376 9.91 KIF1B NPPA RET SDHB SDHD TMEM127
4 embryo MP:0005380 9.83 KIF1B MAX RET SDHD VHL
5 mortality/aging MP:0010768 9.8 GDNF KIF1B MAX RET SDHB SDHD
6 muscle MP:0005369 9.55 GDNF KIF1B NPPA RET VHL
7 limbs/digits/tail MP:0005371 9.5 KIF1B RET VHL
8 neoplasm MP:0002006 9.26 RET SDHB SDHD VHL
9 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:

41
Adrenal Gland, Testes, Liver

Publications for Catecholamine-Producing Tumor

Articles related to Catecholamine-Producing Tumor:

(show top 50) (show all 55)
# Title Authors PMID Year
1
3T MRI evaluation of regional catecholamine-producing tumor-induced myocardial injury. 38
30959487 2019
2
[Adrenal incidentaloma : Diagnostic and therapeutic concept from an endocrinological perspective]. 38
30353360 2019
3
Paraganglioma of the spermatic cord: A case report and literature review. 38
31288201 2019
4
A rare case report of hypertrophic cardiomyopathy induced by catecholamine-producing tumor. 38
30557989 2018
5
Surgical strategy for an adult patient with a catecholamine-producing ganglioneuroblastoma and a cerebral aneurysm: a case report. 38
30225726 2018
6
Laparoscopic management of paraganglioma in a pregnant woman: a case report. 38
29570256 2018
7
A Case Report of Cystic Pheochromocytoma. 38
28740068 2017
8
A Case of Retroperitoneal Paraganglioma. 38
28626127 2017
9
Extracorporeal membrane oxygenation for pheochromocytoma-induced cardiogenic shock. 38
27896787 2016
10
Cushing Syndrome Due to ACTH-Secreting Pheochromocytoma, Aggravated by Glucocorticoid-Driven Positive-Feedback Loop. 38
26700559 2016
11
Pheochromocytoma after Cesarean Section. 38
27076898 2016
12
Somatic RET mutation in a patient with pigmented adrenal pheochromocytoma. 38
26843961 2016
13
Obstructive sleep apnea presenting as pseudopheochromocytoma. 38
27217898 2016
14
Pheochromocytoma in a Pregnant Woman With Prior Traumatic Aortic Injury. 38
26132454 2015
15
[An incidental finding of retrocaval extraadrenal pheochromocytoma]. 38
26169994 2015
16
Primary malignant lymphoma combined with clinically "silent" pheochromocytoma in the same adrenal gland. 38
26419235 2015
17
Thunderclap-like headache triggered by micturition and angina as an initial manifestation of bladder pheochromocytoma. A case report. 38
25424777 2015
18
Rare cause of ventricular tachycardia: Pheochromocytoma. 38
30534261 2015
19
Adrenal Lymphangioma Masquerading as a Catecholamine Producing Tumor. 38
26618011 2015
20
Pheochromocytoma found in Takotsubo cardiomyopathy patients. 38
24907091 2014
21
Pheochromocytoma diagnosed after anticoagulation for atrial fibrillation ablation procedure: a giant in disguise. 38
24780129 2014
22
Role of VEGF-A and its receptors in sporadic and MEN2-associated pheochromocytoma. 38
24675699 2014
23
Radioimmunoassay of free plasma metanephrines for the diagnosis of catecholamine-producing tumors. 38
24088613 2014
24
Anesthetic management of a pregnant woman undergoing laparoscopic surgery for pheochromocytoma -A case report-. 38
23646250 2013
25
Anesthetic management for resection of hepatic paraganglioma metastatic from the donor organ in an orthotopic liver transplant recipient: a case report. 38
23498826 2013
26
Persistent Hiccups-An Unusual Presentation of Bilateral Pheochromocytoma without Syndromic Association: A Case Report. 38
22953071 2012
27
Role of cortical sparing adrenalectomy and novel variant of mutation in patient with von Hippel-Lindau disease. 38
22145147 2011
28
Cardiovascular collapse after labetalol for hypertensive crisis in an undiagnosed pheochromocytoma during cesarean section. 38
21729814 2011
29
Pheochromocytoma presenting as recurrent urinary tract infections : a case report. 38
21226896 2011
30
Thunderclap headache without hypertension in a patient with pheochromocytoma. 38
20625917 2010
31
Effects of somatostatin analog SOM230 on cell proliferation, apoptosis, and catecholamine levels in cultured pheochromocytoma cells. 38
18502819 2008
32
Association of pheochromocytoma and ganglioneuroma: unusual finding in neurofibromatosis type 1. 38
17954422 2007
33
ErbB-2 induces bilateral adrenal pheochromocytoma formation in mice. 38
17671425 2007
34
Pheochromocytoma as a catecholamine producing tumor: implications for clinical practice. 38
17514588 2007
35
A case of sleep apnea syndrome manifesting severe hypertension with high plasma norepinephrine levels. 38
16717398 2006
36
Acute appendicitis in a patient with undiagnosed pheochromocytoma. 38
16428577 2006
37
Detecting pheochromocytoma: defining the most sensitive test. 38
16371743 2006
38
A novel succinate dehydrogenase subunit B gene mutation, H132P, causes familial malignant sympathetic extraadrenal paragangliomas. 38
14715873 2004
39
Quercetin, an over-the-counter supplement, causes neuroblastoma-like elevation of plasma homovanillic acid. 38
15018454 2003
40
[A case of pheochromocytoma with hyperamylasemia]. 38
14532724 2003
41
[Right atrial pheochromocytoma]. 38
12783740 2003
42
[Malignant pheochromocytoma. Personal experience, review of the literature]. 38
12661231 2002
43
Surgery and anesthesia for pheochromocytoma--a series of 40 operations. 38
10998847 2000
44
Increased plasma atrial natriuretic factor in catecholamine-producing tumor patients. 38
10513832 1999
45
Pheochromocytoma: evaluation, diagnosis, and treatment. 38
10096149 1999
46
A clinical diagnosis of urinary bladder (extra-adrenal) phaeochromocytoma. 38
7484526 1995
47
Diurnal variation of blood pressure in patients with catecholamine-producing tumors. 38
7917145 1994
48
[Diagnosis and surgical treatment of extra-adrenal pheochromocytoma]. 38
8436047 1993
49
[Myocardial damage and pheochromocytoma. Description of 2 cases and review of the literature]. 38
2234473 1990
50
Esthesioneuroblastoma: a nasal catecholamine-producing tumor of neural crest origin. Demonstration of tyrosine hydroxylase-immunoreactive tumor cells. 38
2903607 1988

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 10.52 RET GDNF
2 10.2 RET GDNF
3 9.63 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 response to insulin GO:0032868 9.4 NPPA MAX
2 retina development in camera-type eye GO:0060041 9.37 RET MAX
3 positive regulation of cell differentiation GO:0045597 9.32 VHL GDNF
4 neural crest cell migration GO:0001755 9.26 RET GDNF
5 ureteric bud development GO:0001657 9.16 RET GDNF
6 tricarboxylic acid cycle GO:0006099 8.96 SDHD SDHB
7 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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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