MCID: ADR054
MIFTS: 70

Adrenocortical Carcinoma, Hereditary

Categories: Genetic diseases, Rare diseases, Cancer diseases, Cardiovascular diseases, Nephrological diseases, Reproductive diseases, Endocrine diseases

Aliases & Classifications for Adrenocortical Carcinoma, Hereditary

MalaCards integrated aliases for Adrenocortical Carcinoma, Hereditary:

Name: Adrenocortical Carcinoma, Hereditary 57 29 6 40 73
Adrenocortical Carcinoma 41 12 76 53 59 75 29 6 44 15 73
Adrenal Cortical Carcinoma 57 41 12 13
Adrenocortical Carcinoma, Pediatric 29 6 73
Adcc 57 75
Malignant Neoplasm of Adrenal Cortex 73
Hereditary Adrenocortical Carcinoma 75
Pediatric Adrenocortical Carcinoma 75
Carcinoma of the Adrenal Cortex 12
Neoplasm of the Adrenal Cortex 29
Adrenal Cortical Neoplasm 6
Carcinoma Adrenocortical 55
Tumors of Adrenal Cortex 73
Adrenocortical Cancer 55
Acc 53

Characteristics:

Orphanet epidemiological data:

59
adrenocortical carcinoma
Inheritance: Not applicable; Prevalence: 1-9/1000000 (Europe); Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
adrenocortical carcinoma, hereditary:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Adrenocortical Carcinoma, Hereditary

NIH Rare Diseases : 53 Adrenocortical carcinoma is a rare cancer affecting the outside of the adrenal glands (adrenal cortex). These glands are on top of each kidney and are responsible for producing certain hormones and keeping blood pressure at normal levels. Adrenocortical carcinoma is relatively frequent in children compared to many other cancers, although the cancer may also affect adults. Girls are more often affected than boys. Symptoms of adrenocortical carcinoma may include pain in the abdomen, hypertension, weight gain, frequent urination and possibly deepening of the voice. These symptoms are due to the tumors causing excess secretion of hormones from the adrenal glands. Adrenocortical carcinoma may develop by chance alone, but at least 50% of the cancers are thought to be hereditary. There are a number of genes that have changes (mutations) that can cause an adrenocortical carcinoma, including TP53 and IGF2. There have been reports of both autosomal dominant inheritance and autosomal recessive inheritance. An adrenocortical carcinoma is diagnosed based on urine tests for abnormal levels of cortisol, the hormone released by the adrenal glands. Blood tests can also be conducted to measure levels of potassium and sodium in the blood. A CT scan or MRI may be used to search for a visible tumor in the adrenal cortex. Treatment options include surgical removal of the tumor, which is important to achieve a good long-term outlook. Chemotherapy, specifically a drug called mitotane, can be used to try to remove any remaining cancer after surgery. 

MalaCards based summary : Adrenocortical Carcinoma, Hereditary, also known as adrenocortical carcinoma, is related to adrenal carcinoma and adenoma, and has symptoms including fever and flank pain. An important gene associated with Adrenocortical Carcinoma, Hereditary is TP53 (Tumor Protein P53), and among its related pathways/superpathways are PI3K-Akt signaling pathway and NFAT and Cardiac Hypertrophy. The drugs Bexxar and Perjeta have been mentioned in the context of this disorder. Affiliated tissues include cortex, adrenal cortex and adrenal gland, and related phenotypes are adrenocortical carcinoma and abnormality of reproductive system physiology

OMIM : 57 Adrenocortical carcinoma (ADCC) is a rare but aggressive childhood tumor, representing about 0.4% of childhood tumors, with a high incidence of associated tumors. ADCC occurs with increased frequency in patients with the Beckwith-Wiedemann syndrome (130650) and is a component tumor in Li-Fraumeni syndrome (LFS; 151623). (202300)

UniProtKB/Swiss-Prot : 75 Adrenocortical carcinoma: A malignant neoplasm of the adrenal cortex and a rare childhood tumor. It occurs with increased frequency in patients with Beckwith-Wiedemann syndrome and Li-Fraumeni syndrome.

Disease Ontology : 12 An adrenal cortex cancer that forms in the outer layer of tissue of the adrenal gland and that has material basis in abnormally proliferating cells derives from epithelial cells.

Wikipedia : 76 Adrenocortical carcinoma (ACC, adrenal cortical carcinoma, adrenal cortical cancer, adrenal cortex... more...

Related Diseases for Adrenocortical Carcinoma, Hereditary

Diseases related to Adrenocortical Carcinoma, Hereditary via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 103)
# Related Disease Score Top Affiliating Genes
1 adrenal carcinoma 33.0 CYP11A1 CYP11B2 CYP17A1 IGF2 NR5A1 STAR
2 adenoma 30.9 BRAF CTNNB1 CYP11B2 GNAS TP53
3 adrenal cortical adenoma 30.7 CYP11A1 CYP17A1 MC2R NR5A1
4 adenocarcinoma 30.4 BRAF CTNNB1 GNAS H19 PIK3CA TP53
5 conn's syndrome 30.1 CYP11A1 CYP11B2 CYP17A1 GNAS MC2R
6 hepatocellular carcinoma 29.5 CTNNB1 GNAS H19 IGF2 MIR195 MIR214
7 colorectal cancer 29.2 BRAF CHEK2 CTNNB1 GNAS H19 IGF2
8 adrenocortical carcinoma with pure aldosterone hypersecretion 12.2
9 corpus callosum, agenesis of 11.7
10 aplasia cutis congenita 11.6
11 aplasia cutis congenita, nonsyndromic 11.6
12 nevus of ota 11.1 BRAF TP53
13 silver-russell syndrome due to an imprinting defect of 11p15 11.1 H19 IGF2
14 rare adenocarcinoma of the breast 11.1 PIK3CA TP53
15 silver-russell syndrome due to 11p15 microduplication 11.1 H19 IGF2
16 beckwith-wiedemann syndrome due to imprinting defect of 11p15 11.1 H19 IGF2
17 erdheim-chester disease 11.1 BRAF NRAS PIK3CA
18 adult hepatocellular carcinoma 11.0 CTNNB1 PIK3CA TP53
19 brain stem glioma 11.0 BRAF PIK3CA TP53
20 malignant spiradenoma 11.0 PIK3CA TP53
21 skin squamous cell carcinoma 11.0 BRAF PIK3CA TP53
22 bladder squamous cell carcinoma 11.0 BRAF PIK3CA TP53
23 prostate transitional cell carcinoma 11.0 CTNNB1 PIK3CA
24 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 11.0 CTNNB1 PIK3CA TP53
25 meninges sarcoma 11.0 IGF2 TP53
26 hyperplastic polyposis syndrome 11.0 BRAF TP53
27 adenoid cystic carcinoma 10.9
28 ovarian serous cystadenocarcinoma 10.9 BRAF NRAS PIK3CA TP53
29 li-fraumeni syndrome 2 10.9 CHEK2 TP53
30 renal cell carcinoma, papillary, 1 10.9 BRAF NRAS PIK3CA TP53
31 colorectal adenocarcinoma 10.9 BRAF CTNNB1 TP53
32 anaplastic thyroid cancer 10.9 BRAF CTNNB1 PIK3CA TP53
33 female reproductive organ cancer 10.9 CTNNB1 PIK3CA TP53
34 suppression of tumorigenicity 12 10.9 BRAF CTNNB1 PIK3CA TP53
35 marek disease 10.9 H19 TP53
36 atypical teratoid rhabdoid tumor 10.9 CTNNB1 IGF2 TP53
37 respiratory system cancer 10.9 CTNNB1 PIK3CA TP53
38 female reproductive endometrioid cancer 10.9 CTNNB1 TP53
39 wilms tumor 5 10.9 CTNNB1 H19 IGF2
40 uterine carcinosarcoma 10.8 CTNNB1 PIK3CA TP53
41 hemihyperplasia, isolated 10.8 H19 IGF2
42 organ system benign neoplasm 10.8 CTNNB1 CYP11B2 TP53
43 differentiated thyroid carcinoma 10.8 BRAF CHEK2 NRAS TP53
44 cell type cancer 10.8 CTNNB1 NRAS TP53
45 myeloma, multiple 10.8 BRAF H19 NRAS TP53
46 adrenal rest tumor 10.8 CYP11B2 MC2R NR5A1
47 lymphoma, non-hodgkin, familial 10.8 BRAF NRAS PIK3CA TP53
48 hepatoblastoma 10.8 CTNNB1 H19 IGF2 TP53
49 pancreas adenocarcinoma 10.8 CTNNB1 GNAS PIK3CA TP53
50 bladder urothelial carcinoma 10.8 BRAF CTNNB1 NRAS PIK3CA TP53

Graphical network of the top 20 diseases related to Adrenocortical Carcinoma, Hereditary:



Diseases related to Adrenocortical Carcinoma, Hereditary

Symptoms & Phenotypes for Adrenocortical Carcinoma, Hereditary

Symptoms via clinical synopsis from OMIM:

57
Oncology:
adrenocortical carcinoma

Endocrine:
virilism


Clinical features from OMIM:

202300

Human phenotypes related to Adrenocortical Carcinoma, Hereditary:

59 32 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 adrenocortical carcinoma 59 32 obligate (100%) Obligate (100%) HP:0006744
2 abnormality of reproductive system physiology 59 32 frequent (33%) Frequent (79-30%) HP:0000080
3 irritability 59 32 frequent (33%) Frequent (79-30%) HP:0000737
4 anxiety 59 32 frequent (33%) Frequent (79-30%) HP:0000739
5 diabetes mellitus 59 32 frequent (33%) Frequent (79-30%) HP:0000819
6 hypertension 59 32 frequent (33%) Frequent (79-30%) HP:0000822
7 hyperaldosteronism 59 32 frequent (33%) Frequent (79-30%) HP:0000859
8 hyperhidrosis 59 32 frequent (33%) Frequent (79-30%) HP:0000975
9 hypertrichosis 59 32 frequent (33%) Frequent (79-30%) HP:0000998
10 striae distensae 59 32 frequent (33%) Frequent (79-30%) HP:0001065
11 muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0001324
12 weight loss 59 32 frequent (33%) Frequent (79-30%) HP:0001824
13 palpitations 59 32 frequent (33%) Frequent (79-30%) HP:0001962
14 abdominal pain 59 32 frequent (33%) Frequent (79-30%) HP:0002027
15 hypokalemia 59 32 frequent (33%) Frequent (79-30%) HP:0002900
16 paradoxical increased cortisol secretion on dexamethasone suppression test 59 32 frequent (33%) Frequent (79-30%) HP:0003466
17 increased body weight 59 32 frequent (33%) Frequent (79-30%) HP:0004324
18 adrenocorticotropic hormone deficiency 59 32 frequent (33%) Frequent (79-30%) HP:0011748
19 increased urinary cortisol level 59 32 frequent (33%) Frequent (79-30%) HP:0012030
20 increased serum estradiol 59 32 frequent (33%) Frequent (79-30%) HP:0025134
21 panic attack 59 32 frequent (33%) Frequent (79-30%) HP:0025269
22 increased serum androstenedione 59 32 frequent (33%) Frequent (79-30%) HP:0025380
23 elevated serum 11-deoxycortisol 59 32 frequent (33%) Frequent (79-30%) HP:0025436
24 lung adenocarcinoma 59 32 frequent (33%) Frequent (79-30%) HP:0030078
25 abnormal serum dehydroepiandrosterone level 59 32 frequent (33%) Frequent (79-30%) HP:0500022
26 abnormality of metabolism/homeostasis 59 Frequent (79-30%)
27 increased circulating cortisol level 59 Frequent (79-30%)
28 increased circulating androgen level 59 Frequent (79-30%)
29 abnormality of urine homeostasis 59 Occasional (29-5%)

UMLS symptoms related to Adrenocortical Carcinoma, Hereditary:


fever, flank pain

GenomeRNAi Phenotypes related to Adrenocortical Carcinoma, Hereditary according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 9.17 BRAF GNAS H19 IGF2 MC2R NRAS

MGI Mouse Phenotypes related to Adrenocortical Carcinoma, Hereditary:

46 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10.29 CYP11B2 CTNNB1 BRAF CYP11A1 CHEK2 IGF2
2 homeostasis/metabolism MP:0005376 10.28 CYP11B2 CTNNB1 CYP17A1 BRAF CYP11A1 CHEK2
3 growth/size/body region MP:0005378 10.27 CYP11B2 CTNNB1 BRAF CYP11A1 IGF2 NRAS
4 behavior/neurological MP:0005386 10.26 CTNNB1 BRAF CYP11A1 NR5A1 IGF2 CYP17A1
5 cardiovascular system MP:0005385 10.25 CYP11B2 CTNNB1 BRAF CYP11A1 IGF2 NRAS
6 cellular MP:0005384 10.24 CHEK2 CTNNB1 BRAF CYP11A1 GNAS NR5A1
7 immune system MP:0005387 10.14 CHEK2 CYP11B2 CTNNB1 BRAF CYP11A1 IGF2
8 mortality/aging MP:0010768 10.13 CHEK2 CTNNB1 BRAF CYP11A1 NR5A1 IGF2
9 adipose tissue MP:0005375 10.08 CYP11B2 BRAF CYP17A1 MC2R GNAS TP53
10 liver/biliary system MP:0005370 9.97 CYP11B2 CTNNB1 BRAF CYP11A1 IGF2 NRAS
11 nervous system MP:0003631 9.9 CHEK2 CYP11B2 CTNNB1 BRAF CYP11A1 GNAS
12 neoplasm MP:0002006 9.8 CHEK2 CTNNB1 BRAF NRAS GNAS TP53
13 renal/urinary system MP:0005367 9.5 CYP11B2 CTNNB1 BRAF GNAS IGF2 CYP17A1
14 reproductive system MP:0005389 9.32 CYP11B2 CTNNB1 BRAF CYP11A1 NR5A1 IGF2

Drugs & Therapeutics for Adrenocortical Carcinoma, Hereditary

FDA approved drugs:

# Drug Name Active Ingredient(s) 18 Company Approval Date
1
Bexxar 18 49 TOSITUMOMAB; IODINE I 131 TOSITUMOMAB Corixa June 2003
2
Perjeta 18 49 PERTUZUMAB Genentech June 2012
3
Unituxin 18 49 DINUTUXIMAB United Therapeutics March 2015
4
Portazza 18 NECITUMUMAB Eli Lilly November 2015

Drugs for Adrenocortical Carcinoma, Hereditary (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 153)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Epinephrine Approved, Vet_approved Phase 3,Phase 2,Phase 1,Not Applicable 51-43-4 5816
2
Racepinephrine Approved Phase 3,Phase 2,Phase 1,Not Applicable 329-65-7 838
3
Cisplatin Approved Phase 3,Phase 2,Phase 1 15663-27-1 84093 441203 2767
4
Doxorubicin Approved, Investigational Phase 3,Phase 2,Phase 1 23214-92-8 31703
5
Etoposide Approved Phase 3,Phase 2 33419-42-0 36462
6
Mitotane Approved Phase 3,Phase 2 53-19-0 4211
7
Streptozocin Approved, Investigational Phase 3 18883-66-4 29327
8
Lenograstim Approved, Investigational Phase 3 135968-09-1
9
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 3 437-38-7 3345
10
Hydrocortisone Approved, Vet_approved Phase 3,Phase 2 50-23-7 5754
11
Mifepristone Approved, Investigational Phase 3 84371-65-3 55245
12
Etomidate Approved Phase 3,Phase 1,Phase 2 33125-97-2 36339 667484
13
Isotretinoin Approved Phase 3 4759-48-2 5538 5282379
14
Tretinoin Approved, Investigational, Nutraceutical Phase 3 302-79-4 5538 444795
15
Doxil Approved June 1999 Phase 3,Phase 2,Phase 1 31703
16 Pancreatic Polypeptide Investigational Phase 3,Phase 1 59763-91-6
17 Antineoplastic Agents, Phytogenic Phase 3,Phase 2,Phase 1
18 Liver Extracts Phase 3,Phase 2,Phase 1,Early Phase 1
19 Epinephryl borate Phase 3,Phase 2,Phase 1,Not Applicable
20 insulin Phase 3,Phase 2
21 Insulin, Globin Zinc Phase 3,Phase 2
22 Mitogens Phase 3,Phase 2
23 Anti-Bacterial Agents Phase 3,Phase 2,Phase 1
24 Antibiotics, Antitubercular Phase 3,Phase 2,Phase 1
25 Antineoplastic Agents, Hormonal Phase 3,Phase 2
26 Etoposide phosphate Phase 3,Phase 2
27 Topoisomerase Inhibitors Phase 3,Phase 2,Phase 1
28 Adjuvants, Immunologic Phase 3,Phase 2,Phase 1
29 Adjuvants, Anesthesia Phase 3
30 Analgesics Phase 3
31 Analgesics, Opioid Phase 3
32 Anesthetics Phase 3,Phase 1,Phase 2
33 Anesthetics, General Phase 3,Phase 1,Phase 2
34 Anesthetics, Intravenous Phase 3,Phase 1,Phase 2
35 Central Nervous System Depressants Phase 3,Phase 1,Phase 2
36 Narcotics Phase 3
37 Peripheral Nervous System Agents Phase 3,Phase 2,Not Applicable
38 Adrenocorticotropic Hormone Phase 3,Phase 2
39 beta-endorphin Phase 3
40 Contraceptive Agents Phase 3,Phase 2
41 Contraceptives, Oral Phase 3
42 Contraceptives, Postcoital Phase 3
43 Cortisol succinate Phase 3,Phase 2
44 Hormone Antagonists Phase 3,Phase 2
45 Hormones Phase 3,Phase 2
46 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 2
47 Hydrocortisone 17-butyrate 21-propionate Phase 3,Phase 2
48 Hydrocortisone acetate Phase 3,Phase 2
49 Luteolytic Agents Phase 3
50 Melanocyte-Stimulating Hormones Phase 3

Interventional clinical trials:

(show top 50) (show all 72)
# Name Status NCT ID Phase Drugs
1 A Study of OSI-906 in Patients With Locally Advanced or Metastatic Adrenocortical Carcinoma Completed NCT00924989 Phase 3 OSI-906
2 Trial in Locally Advanced and Metastatic Adrenocortical Carcinoma Treatment (FIRM-ACT) Completed NCT00094497 Phase 3 Etoposide;Doxorubicin;Cisplatin;Streptozotocin;Mitotane
3 Cisplatin-Based Chemotherapy and/or Surgery in Treating Young Patients With Adrenocortical Tumor Completed NCT00304070 Phase 3 doxorubicin hydrochloride;cisplatin;mitotane;etoposide
4 Fentanyl Sublingual Spray in Treating Patients With Breakthrough Cancer Pain Completed NCT00538850 Phase 3 Fentanyl sublingual spray;Placebo
5 An Extension Study of CORLUX in the Treatment of Endogenous Cushing's Syndrome Completed NCT00936741 Phase 3 mifepristone
6 A Study of the Efficacy and Safety of CORLUX in the Treatment of Endogenous Cushing's Syndrome Completed NCT00569582 Phase 3 mifepristone
7 Efficacy of Adjuvant Mitotane Treatment (ADIUVO) Recruiting NCT00777244 Phase 3 MITOTANE
8 Combined FDG-PET and 123I-Iodometomidate Imaging for Adrenal Neoplasia Recruiting NCT02010957 Phase 3
9 European Low and Intermediate Risk Neuroblastoma Protocol Recruiting NCT01728155 Phase 3 chemotherapy
10 Sunitinib in Refractory Adrenocortical Carcinoma Unknown status NCT00453895 Phase 2 Sunitinib
11 Sorafenib Plus Paclitaxel in Adreno-Cortical-Cancer Patients Unknown status NCT00786110 Phase 2 Sorafenib;Paclitaxel
12 External-Beam Radiation Therapy With or Without Indinavir and Ritonavir in Treating Patients With Brain Metastases Unknown status NCT00637637 Phase 2 indinavir sulfate;ritonavir
13 Clinical Trial of Dovitinib in First-line Metastatic or Locally Advanced Non-resectable Adrenocortical Carcinoma Completed NCT01514526 Phase 2 Dovitinib
14 Phase II Trial of ZD1839 (Iressa) in Patients With Nonresectable Adrenocortical Carcinoma (ACC) Completed NCT00215202 Phase 2 Iressa (ZD1839)
15 Trial With Taxotere and Cisplatin in Non-operable Adrenocortical Carcinoma Completed NCT00324012 Phase 2 cisplatin, taxotere
16 Gossypol Acetic Acid in Treating Patients With Recurrent, Metastatic, or Primary Adrenocortical Cancer That Cannot Be Removed By Surgery Completed NCT00848016 Phase 2 R-(-)-gossypol acetic acid
17 Phase II Study of Axitinib (AG-013736) With Evaluation of the VEGF-Pathway in Metastatic, Recurrent or Primary Unresectable Adrenocortical Cancer Completed NCT01255137 Phase 2 Axitinib
18 A Study of Combination Chemotherapy and Surgical Resection in the Treatment of Adrenocortical Carcinoma: Continuous Infusion Doxorubicin, Vincristine and Etoposide With Daily Mitotane Before and After Surgical Resection Completed NCT00001339 Phase 2 doxorubicin, vincristine, and etoposide with mitotane
19 A Study to Determine Safety, Pharmacokinetics and Pharmacodynamics of Intravenous TKM 080301 in Neuroendocrine Tumors (NET) and Adrenocortical Carcinoma (ACC) Patients Completed NCT01262235 Phase 1, Phase 2 TKM-080301
20 Surgery Plus Chemotherapy (Doxorubicin, Vincristine and Etoposide), Mitotane, and Tariquidar to Treat Adrenocortical Cancer Completed NCT00071058 Phase 2 XR9576 (Tariquidar)
21 Evaluation of 123I-Iodometomidate for Adrenal Scintigraphy Completed NCT00454103 Phase 1, Phase 2 123I-Iodometomidate
22 A Study of the Safety and Effects of ADH-1 Given Intravenously as a Single Agent Completed NCT00264433 Phase 2 ADH -1 (Exherin™)
23 Combination Chemotherapy and Tamoxifen in Treating Patients With Solid Tumors Completed NCT00002608 Phase 2 cisplatin;doxorubicin hydrochloride;tamoxifen citrate
24 Cixutumumab in Treating Patients With Relapsed or Refractory Solid Tumors Completed NCT00831844 Phase 2
25 Oxaliplatin in Treating Young Patients With Recurrent Solid Tumors That Have Not Responded to Previous Treatment Completed NCT00091182 Phase 2 oxaliplatin
26 Cabozantinib in Unresectable/Metastatic Adrenocortical Carcinoma Recruiting NCT03370718 Phase 2 Cabozantinib
27 Cabazitaxel Activity in Patients With Advanced AdrenoCortical-Carcinoma Progressing After Previous Chemotherapy Lines Recruiting NCT03257891 Phase 2 Cabazitaxel
28 Surgery and Heated Intraperitoneal Chemotherapy for Adrenocortical Carcinoma Recruiting NCT03127774 Phase 2 Cisplatin;Sodium thiosulfate
29 Single Agent Pembrolizumab in Subjects With Advanced Adrenocortical Carcinoma Recruiting NCT02673333 Phase 2 Pembrolizumab
30 Nivolumab Combined With Ipilimumab for Patients With Advanced Rare Genitourinary Tumors Recruiting NCT03333616 Phase 2 Ipilimumab;Nivolumab
31 Study of Efficacy and Safety of Osilodrostat in Cushing's Syndrome Recruiting NCT02468193 Phase 2 Osilodrostat
32 Cabozantinib-S-Malate in Treating Younger Patients With Recurrent, Refractory, or Newly Diagnosed Sarcomas, Wilms Tumor, or Other Rare Tumors Recruiting NCT02867592 Phase 2 Cabozantinib S-malate
33 Study for the Evaluation of Efficacy of Pembrolizumab (MK-3475) in Patients With Rare Tumors Recruiting NCT02721732 Phase 2 Pembrolizumab
34 Nivolumab and Ipilimumab in Treating Patients With Rare Tumors Recruiting NCT02834013 Phase 2
35 Activity of Abiraterone Acetate in the Management of Cushing's Syndrome in Patients With Adrenocortical Carcinoma Active, not recruiting NCT03145285 Phase 2 Abiraterone Acetate
36 Surgery and Heated Chemotherapy for Adrenocortical Carcinoma Active, not recruiting NCT01833832 Phase 2 Cisplatin;sodium thiosulfate
37 Nivolumab in Treating Patients With Metastatic Adrenocortical Cancer Active, not recruiting NCT02720484 Phase 2 Nivolumab
38 Study to Evaluate CORT125134 in Patients With Cushing's Syndrome Active, not recruiting NCT02804750 Phase 2 CORT125134
39 S9427, Suramin in Treating Patients With Stage III or Stage IV Adrenocortical Cancer Incurable by Surgery Terminated NCT00002921 Phase 2 suramin;therapeutic hydrocortisone
40 IMC-A12 With Mitotane vs Mitotane Alone in Recurrent, Metastatic, or Primary ACC That Cannot Be Removed by Surgery Terminated NCT00778817 Phase 2 mitotane
41 Antineoplaston Therapy in Treating Patients With Stage IV Adrenal Gland Cancer Terminated NCT00003453 Phase 2 Antineoplaston therapy (Atengenal + Astugenal)
42 Treatment Study Using Bevacizumab for Patients With Adrenocortical Carcinoma Withdrawn NCT00469469 Phase 2 Bevacizumab
43 Phase 1 Study of ATR-101 in Subjects With Advanced Adrenocortical Carcinoma Completed NCT01898715 Phase 1 ATR-101
44 Combination Chemotherapy With Suramin Plus Doxorubicin in Treating Patients With Advanced Solid Tumors Completed NCT00003038 Phase 1 doxorubicin hydrochloride;suramin
45 A Pilot Study of Metformin in Patients With a Diagnosis of Li-Fraumeni Syndrome Completed NCT01981525 Phase 1 Metformin
46 Seneca Valley Virus-001 and Cyclophosphamide in Treating Young Patients With Relapsed or Refractory Neuroblastoma, Rhabdomyosarcoma, or Rare Tumors With Neuroendocrine Features Completed NCT01048892 Phase 1 cyclophosphamide
47 Interleukin-12 and Trastuzumab in Treating Patients With Cancer That Has High Levels of HER2/Neu Completed NCT00004074 Phase 1
48 Continuous Hyperthermic Peritoneal Perfusion (CHPP) With Cisplatin for Children With Peritoneal Cancer Completed NCT00436657 Phase 1 CHPP of Cisplatin
49 Trastuzumab Plus R115777 in Treating Patients With Advanced or Metastatic Cancer Completed NCT00005842 Phase 1 tipifarnib
50 MS-275 in Treating Patients With Advanced Solid Tumors or Lymphoma Completed NCT00020579 Phase 1 entinostat

Search NIH Clinical Center for Adrenocortical Carcinoma, Hereditary

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Cochrane evidence based reviews: adrenocortical carcinoma

Genetic Tests for Adrenocortical Carcinoma, Hereditary

Genetic tests related to Adrenocortical Carcinoma, Hereditary:

# Genetic test Affiliating Genes
1 Adrenocortical Carcinoma, Hereditary 29 TP53
2 Adrenocortical Carcinoma 29
3 Neoplasm of the Adrenal Cortex 29
4 Adrenocortical Carcinoma, Pediatric 29

Anatomical Context for Adrenocortical Carcinoma, Hereditary

MalaCards organs/tissues related to Adrenocortical Carcinoma, Hereditary:

41
Cortex, Adrenal Cortex, Adrenal Gland, Testes, Kidney, Lung, Liver

Publications for Adrenocortical Carcinoma, Hereditary

Articles related to Adrenocortical Carcinoma, Hereditary:

(show top 50) (show all 629)
# Title Authors Year
1
Co-culture of H295R Adrenocortical Carcinoma and BeWo Choriocarcinoma Cells to Study Feto-placental Interactions: Focus on Estrogen Biosynthesis. ( 29197012 )
2018
2
Adrenocortical carcinoma characterized by gynecomastia: A case report. ( 29403152 )
2018
3
Synchronous adrenocortical carcinoma and ovarian malignant mixed germ cell tumor: A case report and literature review. ( 29768344 )
2018
4
Ectopic, retroperitoneal adrenocortical carcinoma in the setting of Lynch syndrome. ( 28940135 )
2017
5
RARRES2 functions as a tumor suppressor by promoting I^-catenin phosphorylation/degradation and inhibiting p38 phosphorylation in adrenocortical carcinoma. ( 28114280 )
2017
6
Mutational signature analysis identifies MUTYH deficiency in colorectal cancers and adrenocortical carcinomas. ( 28127763 )
2017
7
Dosage-dependent regulation of VAV2 expression by steroidogenic factor-1 drives adrenocortical carcinoma cell invasion. ( 28270555 )
2017
8
Feminizing Adrenocortical Carcinoma Without Gynecomastia. ( 28804590 )
2017
9
Lung adenocarcinoma and adrenocortical carcinoma in a patient with multiple endocrine neoplasia type 1. ( 28070481 )
2017
10
Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome Combined With Adrenocortical Carcinoma on 18F-FDG PET/CT. ( 28737576 )
2017
11
Comparison of the methods for measuring the Ki-67 labeling index in adrenocortical carcinoma: manual versus digital image analysis. ( 26980031 )
2016
12
Association of mitotane with chylomicrons and serum lipoproteins: practical implications for treatment of adrenocortical carcinoma. ( 26671975 )
2016
13
Sarcomatoid adrenocortical carcinoma: a comprehensive pathological, immunohistochemical, and targeted next-generation sequencing analysis. ( 27589897 )
2016
14
Methylation of IGF2 regulatory regions to diagnose adrenocortical carcinomas. ( 27535174 )
2016
15
Chylous ascites after resection of giant adrenocortical carcinoma. ( 28149812 )
2016
16
Familial adrenocortical carcinoma in association with Lynch syndrome. ( 27144940 )
2016
17
Drug Synergism of Proteasome Inhibitors and Mitotane by Complementary Activation of ER Stress in Adrenocortical Carcinoma Cells. ( 27631436 )
2016
18
Human Cytochrome P450 2W1 Is Not Expressed in Adrenal Cortex and Is Only Rarely Expressed in Adrenocortical Carcinomas. ( 27598485 )
2016
19
Sphingosine kinase 1 is overexpressed and promotes adrenocortical carcinoma progression. ( 26673009 )
2016
20
Co-inhibition of EGFR and IGF1R synergistically impacts therapeutically on adrenocortical carcinoma. ( 27105537 )
2016
21
Prostate-Specific Membrane Antigen Is a Potential Antiangiogenic Target in Adrenocortical Carcinoma. ( 26771706 )
2016
22
Combined steroidogenic characters of fetal adrenal and Leydig cells in childhood adrenocortical carcinoma. ( 26940356 )
2016
23
First case report of an adrenocortical carcinoma caused by a BRCA2 mutation. ( 27603373 )
2016
24
5th International ACC Symposium: Surgical Considerations in the Treatment of Adrenocortical Carcinoma: 5th International ACC Symposium Session: Who, When and What Combination? ( 26728469 )
2016
25
Serum RARRES2 Is a Prognostic Marker in Patients With Adrenocortical Carcinoma. ( 27336360 )
2016
26
Open Versus Laparoscopic Adrenalectomy for Adrenocortical Carcinoma: A Meta-analysis of Surgical and Oncological Outcomes. ( 26480850 )
2015
27
Management of adrenocortical carcinoma. ( 26477988 )
2015
28
Adrenocortical carcinoma with renal vein tumor thrombus extension. ( 25703915 )
2015
29
Notch1 pathway in adrenocortical carcinomas: correlations with clinical outcome. ( 25979380 )
2015
30
Linsitinib (OSI-906) versus placebo for patients with locally advanced or metastatic adrenocortical carcinoma: a double-blind, randomised, phase 3 study. ( 25795408 )
2015
31
Programmed death ligand-1 expression in adrenocortical carcinoma: an exploratory biomarker study. ( 25767716 )
2015
32
Androgen secreting giant adrenocortical carcinoma with no metastases: A case report and review of the literature. ( 26425231 )
2015
33
18F-FDG PET/CT in the post-operative monitoring of patients with adrenocortical carcinoma. ( 26346137 )
2015
34
Factors associated with survival in pediatric adrenocortical carcinoma: An analysis of the National Cancer Data Base (NCDB). ( 26572849 )
2015
35
Hepatocyte Growth Factor/cMET Pathway Activation Enhances Cancer Hallmarks in Adrenocortical Carcinoma. ( 26282167 )
2015
36
Repeated resections for liver metastasis from primary adrenocortical carcinoma: A case report. ( 25765741 )
2015
37
Pure aldosterone-secreting adrenocortical carcinoma in a patient with refractory primary hyperaldosteronism. ( 26273475 )
2015
38
Major prognostic role of Ki67 in localized adrenocortical carcinoma after complete resection. ( 25559399 )
2015
39
First Case Report of a Sporadic Adrenocortical Carcinoma With Gastric Metastasis and a Synchronous Gastrointestinal Stromal Tumor of the Stomach. ( 26376405 )
2015
40
Chromosome 19 amplification correlates with advanced disease in adrenocortical carcinoma. ( 26453132 )
2015
41
Pregnancy in women previously treated for an adrenocortical carcinoma. ( 26461265 )
2015
42
DNA copy amplification andA overexpression of SLC12A7 inA adrenocortical carcinoma. ( 26454676 )
2015
43
Does Lymphadenectomy Improve Survival in Patients with Adrenocortical Carcinoma? A Population-Based Study. ( 26510563 )
2015
44
Mitotane Inhibits Sterol-O-Acyl Transferase 1 Triggering Lipid-Mediated Endoplasmic Reticulum Stress and Apoptosis in Adrenocortical Carcinoma Cells. ( 26305886 )
2015
45
Immunohistochemical validation of overexpressed genes identified by global expression microarrays in adrenocortical carcinoma reveals potential predictive and prognostic biomarkers. ( 25657202 )
2015
46
Inhibition of IGF-1R in adrenocortical carcinoma. ( 25795411 )
2015
47
Estrogen related receptor I+ (ERRI+) a promising target for the therapy of adrenocortical carcinoma (ACC). ( 26312764 )
2015
48
CUSHING'S SYNDROME CAUSED BY AN ADRENOCORTICAL CARCINOMA AFTER A BARIATRIC SURGERY: CASE REPORT. ( 26537284 )
2015
49
Low DICER1 expression is associated with poor clinical outcome in adrenocortical carcinoma. ( 26087193 )
2015
50
Adrenocortical carcinoma with inferior vena cava, left renal vein and right atrium tumor thrombus extension. ( 26355237 )
2015

Variations for Adrenocortical Carcinoma, Hereditary

ClinVar genetic disease variations for Adrenocortical Carcinoma, Hereditary:

6
(show top 50) (show all 137)
# Gene Variation Type Significance SNP ID Assembly Location
1 CHEK2 NM_007194.3(CHEK2): c.470T> C (p.Ile157Thr) single nucleotide variant risk factor rs17879961 GRCh37 Chromosome 22, 29121087: 29121087
2 CHEK2 NM_007194.3(CHEK2): c.470T> C (p.Ile157Thr) single nucleotide variant risk factor rs17879961 GRCh38 Chromosome 22, 28725099: 28725099
3 TP53 NM_000546.5(TP53): c.1010G> A (p.Arg337His) single nucleotide variant Pathogenic rs121912664 GRCh37 Chromosome 17, 7574017: 7574017
4 TP53 NM_000546.5(TP53): c.1010G> A (p.Arg337His) single nucleotide variant Pathogenic rs121912664 GRCh38 Chromosome 17, 7670699: 7670699
5 TP53 NM_000546.5(TP53): c.818G> A (p.Arg273His) single nucleotide variant Pathogenic/Likely pathogenic rs28934576 GRCh37 Chromosome 17, 7577120: 7577120
6 TP53 NM_000546.5(TP53): c.818G> A (p.Arg273His) single nucleotide variant Pathogenic/Likely pathogenic rs28934576 GRCh38 Chromosome 17, 7673802: 7673802
7 TP53 NM_000546.5(TP53): c.854A> T (p.Glu285Val) single nucleotide variant Pathogenic rs121912667 GRCh37 Chromosome 17, 7577084: 7577084
8 TP53 NM_000546.5(TP53): c.854A> T (p.Glu285Val) single nucleotide variant Pathogenic rs121912667 GRCh38 Chromosome 17, 7673766: 7673766
9 PIK3CA NM_006218.3(PIK3CA): c.3140A> G (p.His1047Arg) single nucleotide variant Pathogenic rs121913279 GRCh37 Chromosome 3, 178952085: 178952085
10 PIK3CA NM_006218.3(PIK3CA): c.3140A> G (p.His1047Arg) single nucleotide variant Pathogenic rs121913279 GRCh38 Chromosome 3, 179234297: 179234297
11 PIK3CA NM_006218.3(PIK3CA): c.3140A> T (p.His1047Leu) single nucleotide variant Pathogenic rs121913279 GRCh37 Chromosome 3, 178952085: 178952085
12 PIK3CA NM_006218.3(PIK3CA): c.3140A> T (p.His1047Leu) single nucleotide variant Pathogenic rs121913279 GRCh38 Chromosome 3, 179234297: 179234297
13 NRAS NM_002524.4(NRAS): c.182A> G (p.Gln61Arg) single nucleotide variant Pathogenic rs11554290 GRCh37 Chromosome 1, 115256529: 115256529
14 NRAS NM_002524.4(NRAS): c.182A> G (p.Gln61Arg) single nucleotide variant Pathogenic rs11554290 GRCh38 Chromosome 1, 114713908: 114713908
15 BRAF NM_004333.4(BRAF): c.1781A> G (p.Asp594Gly) single nucleotide variant Pathogenic rs121913338 GRCh37 Chromosome 7, 140453154: 140453154
16 BRAF NM_004333.4(BRAF): c.1781A> G (p.Asp594Gly) single nucleotide variant Pathogenic rs121913338 GRCh38 Chromosome 7, 140753354: 140753354
17 GNAS NM_000516.5(GNAS): c.601C> T (p.Arg201Cys) single nucleotide variant Pathogenic/Likely pathogenic rs11554273 GRCh37 Chromosome 20, 57484420: 57484420
18 GNAS NM_000516.5(GNAS): c.601C> T (p.Arg201Cys) single nucleotide variant Pathogenic/Likely pathogenic rs11554273 GRCh38 Chromosome 20, 58909365: 58909365
19 GNAS NM_000516.5(GNAS): c.602G> A (p.Arg201His) single nucleotide variant Pathogenic/Likely pathogenic rs121913495 GRCh37 Chromosome 20, 57484421: 57484421
20 GNAS NM_000516.5(GNAS): c.602G> A (p.Arg201His) single nucleotide variant Pathogenic/Likely pathogenic rs121913495 GRCh38 Chromosome 20, 58909366: 58909366
21 CTNNB1 NM_001904.3(CTNNB1): c.98C> T (p.Ser33Phe) single nucleotide variant Pathogenic/Likely pathogenic rs121913400 GRCh37 Chromosome 3, 41266101: 41266101
22 CTNNB1 NM_001904.3(CTNNB1): c.98C> T (p.Ser33Phe) single nucleotide variant Pathogenic/Likely pathogenic rs121913400 GRCh38 Chromosome 3, 41224610: 41224610
23 CTNNB1 NM_001904.3(CTNNB1): c.101G> A (p.Gly34Glu) single nucleotide variant Pathogenic/Likely pathogenic rs28931589 GRCh37 Chromosome 3, 41266104: 41266104
24 CTNNB1 NM_001904.3(CTNNB1): c.101G> A (p.Gly34Glu) single nucleotide variant Pathogenic/Likely pathogenic rs28931589 GRCh38 Chromosome 3, 41224613: 41224613
25 CTNNB1 NM_001904.3(CTNNB1): c.122C> T (p.Thr41Ile) single nucleotide variant Pathogenic/Likely pathogenic rs121913413 GRCh37 Chromosome 3, 41266125: 41266125
26 CTNNB1 NM_001904.3(CTNNB1): c.122C> T (p.Thr41Ile) single nucleotide variant Pathogenic/Likely pathogenic rs121913413 GRCh38 Chromosome 3, 41224634: 41224634
27 CTNNB1 NM_001904.3(CTNNB1): c.134C> T (p.Ser45Phe) single nucleotide variant Pathogenic/Likely pathogenic rs121913409 GRCh37 Chromosome 3, 41266137: 41266137
28 CTNNB1 NM_001904.3(CTNNB1): c.134C> T (p.Ser45Phe) single nucleotide variant Pathogenic/Likely pathogenic rs121913409 GRCh38 Chromosome 3, 41224646: 41224646
29 CTNNB1 NM_001904.3(CTNNB1): c.133T> C (p.Ser45Pro) single nucleotide variant Pathogenic/Likely pathogenic rs121913407 GRCh37 Chromosome 3, 41266136: 41266136
30 CTNNB1 NM_001904.3(CTNNB1): c.133T> C (p.Ser45Pro) single nucleotide variant Pathogenic/Likely pathogenic rs121913407 GRCh38 Chromosome 3, 41224645: 41224645
31 PIK3CA NM_006218.3(PIK3CA): c.3139C> T (p.His1047Tyr) single nucleotide variant Pathogenic rs121913281 GRCh37 Chromosome 3, 178952084: 178952084
32 PIK3CA NM_006218.3(PIK3CA): c.3139C> T (p.His1047Tyr) single nucleotide variant Pathogenic rs121913281 GRCh38 Chromosome 3, 179234296: 179234296
33 BRAF NM_004333.4(BRAF): c.1780G> A (p.Asp594Asn) single nucleotide variant Likely pathogenic rs397516896 GRCh37 Chromosome 7, 140453155: 140453155
34 BRAF NM_004333.4(BRAF): c.1780G> A (p.Asp594Asn) single nucleotide variant Likely pathogenic rs397516896 GRCh38 Chromosome 7, 140753355: 140753355
35 NRAS NM_002524.4(NRAS): c.181C> A (p.Gln61Lys) single nucleotide variant Pathogenic/Likely pathogenic,drug response rs121913254 GRCh37 Chromosome 1, 115256530: 115256530
36 NRAS NM_002524.4(NRAS): c.181C> A (p.Gln61Lys) single nucleotide variant Pathogenic/Likely pathogenic,drug response rs121913254 GRCh38 Chromosome 1, 114713909: 114713909
37 NRAS NM_002524.4(NRAS): c.181C> A (p.Gln61Lys) single nucleotide variant Pathogenic/Likely pathogenic,drug response rs121913254 NCBI36 Chromosome 1, 115058053: 115058053
38 TP53 NM_000546.5(TP53): c.701A> G (p.Tyr234Cys) single nucleotide variant Pathogenic/Likely pathogenic rs587780073 GRCh37 Chromosome 17, 7577580: 7577580
39 TP53 NM_000546.5(TP53): c.701A> G (p.Tyr234Cys) single nucleotide variant Pathogenic/Likely pathogenic rs587780073 GRCh38 Chromosome 17, 7674262: 7674262
40 TP53 NM_000546.5(TP53): c.638G> A (p.Arg213Gln) single nucleotide variant Pathogenic rs587778720 GRCh37 Chromosome 17, 7578211: 7578211
41 TP53 NM_000546.5(TP53): c.638G> A (p.Arg213Gln) single nucleotide variant Pathogenic rs587778720 GRCh38 Chromosome 17, 7674893: 7674893
42 TP53 NM_000546.5(TP53): c.404G> A (p.Cys135Tyr) single nucleotide variant Likely pathogenic rs587781991 GRCh37 Chromosome 17, 7578526: 7578526
43 TP53 NM_000546.5(TP53): c.404G> A (p.Cys135Tyr) single nucleotide variant Likely pathogenic rs587781991 GRCh38 Chromosome 17, 7675208: 7675208
44 TP53 NM_000546.5(TP53): c.374C> T (p.Thr125Met) single nucleotide variant Likely pathogenic rs786201057 GRCh37 Chromosome 17, 7579313: 7579313
45 TP53 NM_000546.5(TP53): c.374C> T (p.Thr125Met) single nucleotide variant Likely pathogenic rs786201057 GRCh38 Chromosome 17, 7675995: 7675995
46 GNAS NM_000516.5(GNAS): c.602G> T (p.Arg201Leu) single nucleotide variant Pathogenic/Likely pathogenic rs121913495 GRCh37 Chromosome 20, 57484421: 57484421
47 GNAS NM_000516.5(GNAS): c.602G> T (p.Arg201Leu) single nucleotide variant Pathogenic/Likely pathogenic rs121913495 GRCh38 Chromosome 20, 58909366: 58909366
48 TP53 NM_000546.5(TP53): c.824G> A (p.Cys275Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs863224451 GRCh38 Chromosome 17, 7673796: 7673796
49 TP53 NM_000546.5(TP53): c.824G> A (p.Cys275Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs863224451 GRCh37 Chromosome 17, 7577114: 7577114
50 TP53 NM_000546.5(TP53): c.374C> A (p.Thr125Lys) single nucleotide variant Uncertain significance rs786201057 GRCh38 Chromosome 17, 7675995: 7675995

Cosmic variations for Adrenocortical Carcinoma, Hereditary:

9
(show top 50) (show all 243)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM43931 TP53 adrenal gland,adrenal gland,adrenal cortical carcinoma,functioning c.523C>A p.R175S 17:7675089-7675089 9
2 COSM11286 TP53 adrenal gland,adrenal gland,adrenal cortical carcinoma,functioning c.1015G>T p.E339* 17:7670694-7670694 9
3 COSM10801 TP53 adrenal gland,adrenal gland,adrenal cortical carcinoma,functioning c.404G>A p.C135Y 17:7675208-7675208 9
4 COSM44175 TP53 adrenal gland,adrenal gland,adrenal cortical carcinoma,functioning c.644G>C p.S215T 17:7674887-7674887 9
5 COSM4445247 MEN1 adrenal gland,adrenal gland,adrenal cortical carcinoma,functioning c.812G>C p.G271A 11:64807191-64807191 9
6 COSM4445249 MEN1 adrenal gland,adrenal gland,adrenal cortical carcinoma,functioning c.808C>A p.L270M 11:64807195-64807195 9
7 COSM4445248 MEN1 adrenal gland,adrenal gland,adrenal cortical carcinoma,functioning c.1132G>T p.E378* 11:64805688-64805688 9
8 COSM4445246 MED12 adrenal gland,adrenal gland,adrenal cortical carcinoma,functioning c.4857G>T p.K1619N 23:71134842-71134842 9
9 COSM5669 CTNNB1 adrenal gland,adrenal gland,adrenal cortical carcinoma,functioning c.98C>T p.S33F 3:41224610-41224610 9
10 COSM4440759 APC adrenal gland,adrenal gland,adrenal cortical carcinoma,functioning c.232G>T p.D78Y 5:112767200-112767200 9
11 COSM6972839 ZRSR2 adrenal gland,adrenal gland,adrenal cortical carcinoma,NS c.347G>T p.R116M 23:15804145-15804145 8
12 COSM6918517 YAP1 adrenal gland,adrenal gland,adrenal cortical carcinoma,NS c.1123A>C p.I375L 11:102229710-102229710 8
13 COSM6975028 XPO1 adrenal gland,adrenal gland,adrenal cortical carcinoma,NS c.775A>G p.M259V 2:61496992-61496992 8
14 COSM6972832 TSC2 adrenal gland,adrenal gland,adrenal cortical carcinoma,NS c.4632G>T p.K1544N 16:2085292-2085292 8
15 COSM10662 TP53 adrenal gland,adrenal gland,adrenal cortical carcinoma,NS c.743G>A p.R248Q 17:7674220-7674220 8
16 COSM10645 TP53 adrenal gland,adrenal gland,adrenal cortical carcinoma,NS c.527G>T p.C176F 17:7675085-7675085 8
17 COSM11066 TP53 adrenal gland,adrenal gland,adrenal cortical carcinoma,NS c.578A>T p.H193L 17:7674953-7674953 8
18 COSM43650 TP53 adrenal gland,adrenal gland,adrenal cortical carcinoma,NS c.638G>T p.R213L 17:7674893-7674893 8
19 COSM11245 TP53 adrenal gland,adrenal gland,adrenal cortical carcinoma,NS c.430C>T p.Q144* 17:7675182-7675182 8
20 COSM107991 TP53 adrenal gland,adrenal gland,adrenal cortical carcinoma,NS c.1051A>G p.K351E 17:7670658-7670658 8
21 COSM6815 TP53 adrenal gland,adrenal gland,adrenal cortical carcinoma,NS c.461G>T p.G154V 17:7675151-7675151 8
22 COSM44091 TP53 adrenal gland,adrenal gland,adrenal cortical carcinoma,NS c.746G>A p.R249K 17:7674217-7674217 8
23 COSM44094 TP53 adrenal gland,adrenal gland,adrenal cortical carcinoma,NS c.716A>G p.N239S 17:7674247-7674247 8
24 COSM11071 TP53 adrenal gland,adrenal gland,adrenal cortical carcinoma,NS c.1009C>T p.R337C 17:7670700-7670700 8
25 COSM44571 TP53 adrenal gland,adrenal gland,adrenal cortical carcinoma,NS c.581T>G p.L194R 17:7674950-7674950 8
26 COSM5706561 TP53 adrenal gland,adrenal gland,adrenal cortical carcinoma,NS c.995T>G p.I332S 17:7670714-7670714 8
27 COSM43963 TP53 adrenal gland,adrenal gland,adrenal cortical carcinoma,NS c.396G>C p.K132N 17:7675216-7675216 8
28 COSM10726 TP53 adrenal gland,adrenal gland,adrenal cortical carcinoma,NS c.856G>A p.E286K 17:7673764-7673764 8
29 COSM10648 TP53 adrenal gland,adrenal gland,adrenal cortical carcinoma,NS c.524G>A p.R175H 17:7675088-7675088 8
30 COSM43755 TP53 adrenal gland,adrenal gland,adrenal cortical carcinoma,NS c.833C>A p.P278H 17:7673787-7673787 8
31 COSM307331 TP53 adrenal gland,adrenal gland,adrenal cortical carcinoma,NS c.973G>T p.G325* 17:7673555-7673555 8
32 COSM10659 TP53 adrenal gland,adrenal gland,adrenal cortical carcinoma,NS c.817C>T p.R273C 17:7673803-7673803 8
33 COSM10790 TP53 adrenal gland,adrenal gland,adrenal cortical carcinoma,NS c.455C>T p.P152L 17:7675157-7675157 8
34 COSM11524 TP53 adrenal gland,adrenal gland,adrenal cortical carcinoma,NS c.730G>T p.G244C 17:7674233-7674233 8
35 COSM44081 TP53 adrenal gland,adrenal gland,adrenal cortical carcinoma,NS c.1073A>T p.E358V 17:7670636-7670636 8
36 COSM44623 TP53 adrenal gland,adrenal gland,adrenal cortical carcinoma,NS c.487T>A p.Y163N 17:7675125-7675125 8
37 COSM44288 TP53 adrenal gland,adrenal gland,adrenal cortical carcinoma,NS c.452C>T p.P151L 17:7675160-7675160 8
38 COSM10722 TP53 adrenal gland,adrenal gland,adrenal cortical carcinoma,NS c.853G>A p.E285K 17:7673767-7673767 8
39 COSM10725 TP53 adrenal gland,adrenal gland,adrenal cortical carcinoma,NS c.701A>G p.Y234C 17:7674262-7674262 8
40 COSM44570 TP53 adrenal gland,adrenal gland,adrenal cortical carcinoma,NS c.332T>G p.L111R 17:7676037-7676037 8
41 COSM44083 TP53 adrenal gland,adrenal gland,adrenal cortical carcinoma,NS c.1036G>T p.E346* 17:7670673-7670673 8
42 COSM44816 TP53 adrenal gland,adrenal gland,adrenal cortical carcinoma,NS c.667C>T p.P223S 17:7674864-7674864 8
43 COSM10738 TP53 adrenal gland,adrenal gland,adrenal cortical carcinoma,NS c.542G>A p.R181H 17:7675070-7675070 8
44 COSM10911 TP53 adrenal gland,adrenal gland,adrenal cortical carcinoma,NS c.847C>T p.R283C 17:7673773-7673773 8
45 COSM6919580 TNFAIP3 adrenal gland,adrenal gland,adrenal cortical carcinoma,NS c.484C>T p.R162W 6:137875033-137875033 8
46 COSM6972835 SPOP adrenal gland,adrenal gland,adrenal cortical carcinoma,NS c.244G>T p.D82Y 17:49619342-49619342 8
47 COSM6972842 SH2D1A adrenal gland,adrenal gland,adrenal cortical carcinoma,NS c.262C>A p.Q88K 23:124370236-124370236 8
48 COSM6934645 SETD2 adrenal gland,adrenal gland,adrenal cortical carcinoma,NS c.3362C>G p.S1121C 3:47103392-47103392 8
49 COSM6972818 SETD2 adrenal gland,adrenal gland,adrenal cortical carcinoma,NS c.313G>T p.E105* 3:47122814-47122814 8
50 COSM6972816 SETD2 adrenal gland,adrenal gland,adrenal cortical carcinoma,NS c.4252G>T p.E1418* 3:47084019-47084019 8

Copy number variations for Adrenocortical Carcinoma, Hereditary from CNVD:

7 (show all 23)
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 39293 10 11285212 16864223 Deletion Adrenocortical carcinoma
2 41923 10 26030462 27568983 Deletion Adrenocortical carcinoma
3 69267 12 54496959 54887816 Amplification Adrenocortical carcinoma
4 105388 16 79195214 80590034 Amplification Adrenocortical carcinoma
5 105796 16 82774218 84680399 Amplification Adrenocortical carcinoma
6 106027 16 85171711 86599633 Amplification Adrenocortical carcinoma
7 106330 16 87455812 88254372 Amplification Adrenocortical carcinoma
8 110643 17 33805634 34663603 Deletion Adrenocortical carcinoma
9 125811 19 15352798 16118051 Deletion Adrenocortical carcinoma
10 129302 19 45108448 45718366 Deletion Adrenocortical carcinoma
11 130528 19 49537470 50323207 Deletion Adrenocortical carcinoma
12 130657 19 50358143 53057498 Deletion Adrenocortical carcinoma
13 131131 19 53210832 53917176 Deletion Adrenocortical carcinoma
14 169573 3 142987765 144031265 Deletion Adrenocortical carcinoma
15 176088 3 46534671 47516603 Deletion Adrenocortical carcinoma
16 176572 3 49687490 50219610 Deletion Adrenocortical carcinoma
17 177057 3 52432656 53876467 Deletion Adrenocortical carcinoma
18 216378 6 91152410 95641352 Deletion Adrenocortical carcinoma
19 222196 7 150275058 151470304 Amplification Adrenocortical carcinoma
20 235763 8 144753570 146201712 Deletion Adrenocortical carcinoma
21 237149 8 21408650 22539377 Deletion Adrenocortical carcinoma
22 238033 8 29147511 31607545 Deletion Adrenocortical carcinoma
23 239018 8 36481039 39128088 Deletion Adrenocortical carcinoma

Expression for Adrenocortical Carcinoma, Hereditary

Search GEO for disease gene expression data for Adrenocortical Carcinoma, Hereditary.

Pathways for Adrenocortical Carcinoma, Hereditary

Pathways related to Adrenocortical Carcinoma, Hereditary according to GeneCards Suite gene sharing:

(show all 37)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.92 CTNNB1 GNAS IGF2 NRAS PIK3CA TP53
2
Show member pathways
12.81 BRAF GNAS IGF2 NRAS PIK3CA
3
Show member pathways
12.81 BRAF CTNNB1 NRAS PIK3CA TP53
4
Show member pathways
12.73 BRAF GNAS NRAS PIK3CA TP53
5
Show member pathways
12.66 BRAF CTNNB1 NRAS PIK3CA TP53
6 12.63 BRAF CTNNB1 GNAS IGF2 NRAS PIK3CA
7
Show member pathways
12.62 BRAF CTNNB1 IGF2 NRAS PIK3CA TP53
8
Show member pathways
12.58 BRAF CTNNB1 GNAS IGF2 NRAS PIK3CA
9
Show member pathways
12.46 BRAF CTNNB1 NRAS PIK3CA TP53
10 12.43 MIR195 MIR214 NRAS PIK3CA TP53
11
Show member pathways
12.42 BRAF NRAS PIK3CA TP53
12
Show member pathways
12.33 CHEK2 CTNNB1 NRAS PIK3CA TP53
13 12.3 CHEK2 CTNNB1 NRAS PIK3CA TP53
14
Show member pathways
12.24 BRAF GNAS MC2R PIK3CA
15
Show member pathways
12.18 BRAF CTNNB1 CYP11A1 CYP11B2 CYP17A1 GNAS
16 12.13 BRAF CTNNB1 GNAS TP53
17
Show member pathways
12.11 BRAF NRAS PIK3CA TP53
18 12.1 CHEK2 NRAS PIK3CA TP53
19 12.07 BRAF CHEK2 CTNNB1 TP53
20 11.99 BRAF NRAS PIK3CA TP53
21
Show member pathways
11.94 BRAF CTNNB1 GNAS PIK3CA
22 11.9 CTNNB1 NRAS PIK3CA TP53
23 11.89 CTNNB1 NRAS PIK3CA TP53
24
Show member pathways
11.76 BRAF NRAS PIK3CA
25 11.74 BRAF CTNNB1 IGF2 NRAS PIK3CA TP53
26 11.7 BRAF CTNNB1 IGF2 NRAS TP53
27 11.69 BRAF NRAS TP53
28 11.66 BRAF GNAS PIK3CA
29
Show member pathways
11.65 CYP11A1 CYP11B2 CYP17A1 STAR
30 11.64 CHEK2 PIK3CA TP53
31 11.63 NRAS PIK3CA TP53
32
Show member pathways
11.63 CYP11A1 CYP11B2 CYP17A1
33 11.58 BRAF GNAS NRAS
34 11.52 BRAF CTNNB1 CYP11A1 GNAS STAR
35 11.31 CYP11A1 CYP17A1 GNAS STAR
36 10.97 BRAF GNAS PIK3CA
37 10.3 CHEK2 TP53

GO Terms for Adrenocortical Carcinoma, Hereditary

Biological processes related to Adrenocortical Carcinoma, Hereditary according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.89 BRAF CTNNB1 NR5A1 STAR TP53
2 cholesterol metabolic process GO:0008203 9.73 CYP11A1 CYP11B2 STAR
3 cellular response to drug GO:0035690 9.7 BRAF CHEK2 TP53
4 replicative senescence GO:0090399 9.57 CHEK2 TP53
5 positive regulation of connective tissue replacement GO:1905205 9.55 MIR195 MIR214
6 small molecule metabolic process GO:0044281 9.54 CYP11A1 CYP11B2
7 regulation of steroid biosynthetic process GO:0050810 9.51 NR5A1 STAR
8 hair follicle placode formation GO:0060789 9.48 CTNNB1 GNAS
9 secondary metabolite biosynthetic process GO:0044550 9.46 CYP11A1 CYP11B2
10 steroid biosynthetic process GO:0006694 9.46 CYP11A1 CYP11B2 CYP17A1 STAR
11 insulin receptor signaling pathway via phosphatidylinositol 3-kinase GO:0038028 9.43 IGF2 PIK3CA
12 sterol metabolic process GO:0016125 9.43 CYP11A1 CYP11B2 CYP17A1
13 dehydroaustinol biosynthetic process GO:1900563 9.4 CYP11A1 CYP11B2
14 cortisol metabolic process GO:0034650 9.37 CYP11A1 CYP11B2
15 austinol biosynthetic process GO:1900560 9.32 CYP11A1 CYP11B2
16 C21-steroid hormone biosynthetic process GO:0006700 9.13 CYP11A1 CYP11B2 STAR
17 glucocorticoid biosynthetic process GO:0006704 8.8 CYP11A1 CYP11B2 CYP17A1

Molecular functions related to Adrenocortical Carcinoma, Hereditary according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0016705 8.8 CYP11A1 CYP11B2 CYP17A1

Sources for Adrenocortical Carcinoma, Hereditary

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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