ADCC
MCID: ADR054
MIFTS: 59

Adrenocortical Carcinoma, Hereditary (ADCC)

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

Aliases & Classifications for Adrenocortical Carcinoma, Hereditary

MalaCards integrated aliases for Adrenocortical Carcinoma, Hereditary:

Name: Adrenocortical Carcinoma, Hereditary 58 30 6 41 74
Adrenocortical Carcinoma, Pediatric 58 30 6 74
Adrenocortical Carcinoma 60 76 74
Adcc 58 76
Malignant Neoplasm of Adrenal Cortex 74
Hereditary Adrenocortical Carcinoma 76
Pediatric Adrenocortical Carcinoma 76
Tumors of Adrenal Cortex 74

Characteristics:

Orphanet epidemiological data:

60
adrenocortical carcinoma
Inheritance: Not applicable; Prevalence: 1-9/1000000 (Europe); Age of onset: Childhood;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
adrenocortical carcinoma, hereditary:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Adrenocortical Carcinoma, Hereditary

OMIM : 58 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)

MalaCards based summary : Adrenocortical Carcinoma, Hereditary, also known as adrenocortical carcinoma, pediatric, is related to li-fraumeni syndrome 2 and adenoid cystic carcinoma, 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 fMLP Pathway and PI3K-Akt signaling pathway. Affiliated tissues include cortex, adrenal cortex and lung, and related phenotypes are adrenocortical carcinoma and diabetes mellitus

UniProtKB/Swiss-Prot : 76 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.

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 209)
# Related Disease Score Top Affiliating Genes
1 li-fraumeni syndrome 2 32.6 CHEK2 TP53
2 adenoid cystic carcinoma 31.5 CHEK2 CTNNB1 PIK3CA TP53
3 adenoma 30.3 BRAF CTNNB1 GNAS TP53
4 lynch syndrome 30.3 BRAF CTNNB1 TP53
5 leukemia, chronic lymphocytic 2 30.1 BRAF NRAS TP53
6 sarcoma 29.5 BRAF CHEK2 CTNNB1 PIK3CA TP53
7 thyroid cancer 29.1 BRAF CTNNB1 GNAS H19 NRAS PIK3CA
8 adenocarcinoma 29.1 BRAF CTNNB1 GNAS H19 PIK3CA TP53
9 squamous cell carcinoma 29.1 BRAF CHEK2 CTNNB1 H19 PIK3CA TP53
10 breast cancer 29.0 BRAF CHEK2 CTNNB1 GNAS H19 PIK3CA
11 colorectal cancer 28.8 BRAF CHEK2 CTNNB1 GNAS H19 NRAS
12 lung cancer susceptibility 3 28.8 BRAF CTNNB1 GNAS H19 NRAS PIK3CA
13 hepatocellular carcinoma 28.6 CTNNB1 GNAS H19 MIR214 NRAS PIK3CA
14 lung cancer 28.1 BRAF CHEK2 H19 MIR214 MIR511 NRAS
15 adrenal cortical carcinoma 12.5
16 adrenocortical carcinoma with pure aldosterone hypersecretion 12.4
17 adrenal cortical adenocarcinoma 12.2
18 adrenal carcinoma 12.1
19 li-fraumeni syndrome 11.7
20 conn's syndrome 10.5
21 nevus of ota 10.4 BRAF TP53
22 bladder squamous cell carcinoma 10.4 BRAF TP53
23 hyperplastic polyposis syndrome 10.4 BRAF TP53
24 spitz nevus 10.3 BRAF TP53
25 papillary craniopharyngioma 10.3 BRAF CTNNB1
26 rare adenocarcinoma of the breast 10.3 PIK3CA TP53
27 female reproductive endometrioid cancer 10.3 CTNNB1 TP53
28 malignant spiradenoma 10.3 PIK3CA TP53
29 prostate transitional cell carcinoma 10.3 CTNNB1 PIK3CA
30 urachal adenocarcinoma 10.3 BRAF GNAS
31 mature teratoma 10.3 BRAF TP53
32 acral lentiginous melanoma 10.3 BRAF NRAS
33 uterine corpus serous adenocarcinoma 10.3 PIK3CA TP53
34 colonic benign neoplasm 10.3 BRAF CTNNB1
35 renal cell carcinoma, nonpapillary 10.3
36 breast squamous cell carcinoma 10.3 PIK3CA TP53
37 marek disease 10.3 H19 TP53
38 uterine body mixed cancer 10.3 PIK3CA TP53
39 meningeal melanomatosis 10.3 NRAS TP53
40 pleomorphic xanthoastrocytoma 10.3 BRAF TP53
41 pilocytic astrocytoma of cerebellum 10.3 BRAF GNAS
42 anal squamous cell carcinoma 10.3 PIK3CA TP53
43 ovarian epithelial cancer 10.2 H19 PIK3CA
44 hemimegalencephaly 10.2 CTNNB1 PIK3CA
45 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 10.2 PIK3CA TP53
46 small cell sarcoma 10.2 NRAS TP53
47 colorectal adenocarcinoma 10.2 BRAF CTNNB1 TP53
48 blood group--swann system 10.2
49 lymphoma 10.2
50 esophageal basaloid squamous cell carcinoma 10.2 CTNNB1 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

Human phenotypes related to Adrenocortical Carcinoma, Hereditary:

60 33 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 adrenocortical carcinoma 60 33 obligate (100%) Obligate (100%) HP:0006744
2 diabetes mellitus 60 33 frequent (33%) Frequent (79-30%) HP:0000819
3 hypertension 60 33 frequent (33%) Frequent (79-30%) HP:0000822
4 hyperhidrosis 60 33 frequent (33%) Frequent (79-30%) HP:0000975
5 muscle weakness 60 33 frequent (33%) Frequent (79-30%) HP:0001324
6 hypokalemia 60 33 frequent (33%) Frequent (79-30%) HP:0002900
7 abdominal pain 60 33 frequent (33%) Frequent (79-30%) HP:0002027
8 lung adenocarcinoma 60 33 frequent (33%) Frequent (79-30%) HP:0030078
9 irritability 60 33 frequent (33%) Frequent (79-30%) HP:0000737
10 weight loss 60 33 frequent (33%) Frequent (79-30%) HP:0001824
11 anxiety 60 33 frequent (33%) Frequent (79-30%) HP:0000739
12 striae distensae 60 33 frequent (33%) Frequent (79-30%) HP:0001065
13 hyperaldosteronism 60 33 frequent (33%) Frequent (79-30%) HP:0000859
14 increased urinary cortisol level 60 33 frequent (33%) Frequent (79-30%) HP:0012030
15 increased body weight 60 33 frequent (33%) Frequent (79-30%) HP:0004324
16 adrenocorticotropic hormone deficiency 60 33 frequent (33%) Frequent (79-30%) HP:0011748
17 palpitations 60 33 frequent (33%) Frequent (79-30%) HP:0001962
18 hypertrichosis 60 33 frequent (33%) Frequent (79-30%) HP:0000998
19 increased serum estradiol 60 33 frequent (33%) Frequent (79-30%) HP:0025134
20 panic attack 60 33 frequent (33%) Frequent (79-30%) HP:0025269
21 abnormality of reproductive system physiology 60 33 frequent (33%) Frequent (79-30%) HP:0000080
22 paradoxical increased cortisol secretion on dexamethasone suppression test 60 33 frequent (33%) Frequent (79-30%) HP:0003466
23 increased serum androstenedione 60 33 frequent (33%) Frequent (79-30%) HP:0025380
24 elevated serum 11-deoxycortisol 60 33 frequent (33%) Frequent (79-30%) HP:0025436
25 abnormal serum dehydroepiandrosterone level 60 33 frequent (33%) Frequent (79-30%) HP:0500022
26 abnormality of urine homeostasis 60 33 occasional (7.5%) Occasional (29-5%) HP:0003110
27 abnormality of metabolism/homeostasis 60 Frequent (79-30%)
28 increased circulating cortisol level 60 Frequent (79-30%)
29 increased circulating androgen level 60 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM:

58
Neoplasia:
adrenocortical carcinoma

Endocrine Features:
virilism

Clinical features from OMIM:

202300

UMLS symptoms related to Adrenocortical Carcinoma, Hereditary:


fever, flank pain

MGI Mouse Phenotypes related to Adrenocortical Carcinoma, Hereditary:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.87 BRAF CHEK2 CTNNB1 GNAS NRAS PIK3CA
2 integument MP:0010771 9.73 BRAF CTNNB1 GNAS NRAS PIK3CA TP53
3 limbs/digits/tail MP:0005371 9.55 BRAF CTNNB1 GNAS NRAS TP53
4 neoplasm MP:0002006 9.5 BRAF CHEK2 CTNNB1 GNAS NRAS PIK3CA
5 pigmentation MP:0001186 8.92 BRAF CTNNB1 NRAS TP53

Drugs & Therapeutics for Adrenocortical Carcinoma, Hereditary

Search Clinical Trials , NIH Clinical Center for Adrenocortical Carcinoma, Hereditary

Inferred drug relations via UMLS 74 / NDF-RT 52 :


Genetic Tests for Adrenocortical Carcinoma, Hereditary

Genetic tests related to Adrenocortical Carcinoma, Hereditary:

# Genetic test Affiliating Genes
1 Adrenocortical Carcinoma, Hereditary 30 TP53
2 Adrenocortical Carcinoma, Pediatric 30

Anatomical Context for Adrenocortical Carcinoma, Hereditary

MalaCards organs/tissues related to Adrenocortical Carcinoma, Hereditary:

42
Cortex, Adrenal Cortex, Lung, Thyroid, Breast, Testes, Adrenal Gland

Publications for Adrenocortical Carcinoma, Hereditary

Articles related to Adrenocortical Carcinoma, Hereditary:

(show top 50) (show all 1222)
# Title Authors Year
1
Precocious pseudopuberty due to virilising adrenocortical carcinoma progressing to central precocious puberty after surgery. ( 30862670 )
2019
2
Genomic stratification and liquid biopsy in a rare adrenocortical carcinoma (ACC) case, with dual lung metastases. ( 30936196 )
2019
3
Establishing a human adrenocortical carcinoma (ACC)-specific gene mutation signature. ( 30477734 )
2019
4
Clinical and molecular prognostic factors in adrenocortical carcinoma. ( 30221891 )
2019
5
18F-FDG PET reveals an adrenocortical carcinoma in a bilateral adrenal multinodular disease. ( 30251165 )
2019
6
Hsp90 inhibition in adrenocortical carcinoma: Limited drug synergism with mitotane. ( 30315857 )
2019
7
In vitro antitumor activity of progesterone in human adrenocortical carcinoma. ( 30367443 )
2019
8
Patterns of Lymph Node Recurrence in Adrenocortical Carcinoma: Possible Implications for Primary Surgical Treatment. ( 30443830 )
2019
9
Advanced Adrenocortical Carcinoma - What to do when First-Line Therapy Fails? ( 30469158 )
2019
10
Fascin-1 Is a Novel Prognostic Biomarker Associated With Tumor Invasiveness in Adrenocortical Carcinoma. ( 30476173 )
2019
11
Plasma steroid metabolome profiling for the diagnosis of adrenocortical carcinoma. ( 30481155 )
2019
12
Case Report of an Adrenocortical Carcinoma Associated With Germline CHEK2 Mutation. ( 30623166 )
2019
13
Adrenocortical carcinoma in patients with MEN1: a kindred report and review of the literature. ( 30721134 )
2019
14
Operative Management of Recurrent and Metastatic Adrenocortical Carcinoma: A Systematic Review. ( 30760340 )
2019
15
Targeted assessment of G0S2 methylation identifies a rapidly recurrent, routinely fatal molecular subtype of adrenocortical carcinoma. ( 30770352 )
2019
16
Management of Adrenocortical Carcinoma. ( 30798468 )
2019
17
Expression profiles analysis identifies the values of carcinogenesis and the prognostic prediction of three genes in adrenocortical carcinoma. ( 30816525 )
2019
18
A case of metastatic adrenocortical carcinoma. ( 30863550 )
2019
19
Identification of four hub genes associated with adrenocortical carcinoma progression by WGCNA. ( 30886771 )
2019
20
Adjuvant radiotherapy after surgical resection for adrenocortical carcinoma: A systematic review of observational studies and meta-analysis. ( 30900615 )
2019
21
Label-free impedimetric immunosensor based on arginine-functionalized gold nanoparticles for detection of DHEAS, a biomarker of pediatric adrenocortical carcinoma. ( 30909017 )
2019
22
microRNA-431 as a Chemosensitizer and Potentiator of Drug Activity in Adrenocortical Carcinoma. ( 30918109 )
2019
23
Potentiation of mitotane action by rosuvastatin: New insights for adrenocortical carcinoma management. ( 30942448 )
2019
24
Adrenocortical carcinoma associated with giant bilateral myelolipomas in classic congenital adrenal hyperplasia. ( 30945697 )
2019
25
Morbidity and mortality of bone metastases in advanced adrenocortical carcinoma: a multicenter retrospective study. ( 30970324 )
2019
26
Apoptosis regulation in adrenocortical carcinoma. ( 30978697 )
2019
27
Adrenocortical carcinoma: presentation and outcome of a contemporary patient series. ( 30980285 )
2019
28
SIRT6 abrogation promotes adrenocortical carcinoma through activation of NF-κB signaling. ( 30989475 )
2019
29
Adjuvant mitotane therapy is beneficial in non-metastatic adrenocortical carcinoma at high risk of recurrence. ( 30991359 )
2019
30
Massive Migration of an Adrenocortical Carcinoma Thrombus. ( 31030537 )
2019
31
Diagnostic Role of Prostate-Specific Membrane Antigen in Adrenocortical Carcinoma. ( 31040822 )
2019
32
Molecular Drivers of Potential Immunotherapy Failure in Adrenocortical Carcinoma. ( 31057613 )
2019
33
A clinical study and treatment results of adrenocortical carcinoma patients presented in Shaukat Khanum Memorial Cancer Hospital and Research Center, Lahore. ( 31105294 )
2019
34
Co-culture of H295R Adrenocortical Carcinoma and BeWo Choriocarcinoma Cells to Study Feto-placental Interactions: Focus on Estrogen Biosynthesis. ( 29197012 )
2018
35
Adrenocortical Carcinoma Presenting as Reversible Dilated Cardiomyopathy. ( 30505399 )
2018
36
High-Dose Mitotane-Induced Encephalopathy in the Treatment of Adrenocortical Carcinoma. ( 29192018 )
2018
37
Incidentally detected adrenocortical carcinoma in familial adenomatous polyposis: an unusual presentation of a hereditary cancer syndrome. ( 30181409 )
2018
38
Adrenocortical carcinoma characterized by gynecomastia: A case report. ( 29403152 )
2018
39
The coexistence of Cushing syndrome and gynecomastia as the manifestations of adrenocortical carcinoma. ( 30527206 )
2018
40
Ectopic, retroperitoneal adrenocortical carcinoma in the setting of Lynch syndrome. ( 28940135 )
2018
41
Synchronous adrenocortical carcinoma and ovarian malignant mixed germ cell tumor: A case report and literature review. ( 29768344 )
2018
42
RNA-Sequencing Analysis of Adrenocortical Carcinoma, Pheochromocytoma and Paraganglioma from a Pan-Cancer Perspective. ( 30558313 )
2018
43
Adrenocortical carcinoma (ACC): When and why should we consider germline testing? ( 30104051 )
2018
44
Predictors of Survival in Adrenocortical Carcinoma: An Analysis From the National Cancer Database. ( 29982685 )
2018
45
A Rare Adrenal Incidentaloma That Mimics Adrenocortical Carcinoma. ( 29984033 )
2018
46
European Society of Endocrinology Clinical Practice Guidelines on the Management of Adrenocortical Carcinoma in Adults, in collaboration with the European Network for the Study of Adrenal Tumors. ( 30042120 )
2018
47
Feminizing Adrenocortical Carcinoma: The Source of Estrogen Production and the Role of Adrenal-Gonadal Dedifferentiation. ( 30053001 )
2018
48
Pathobiology and genetics of adrenocortical carcinoma. ( 30072419 )
2018
49
Enzyme autoinduction by mitotane supported by population pharmacokinetic modelling in a large cohort of adrenocortical carcinoma patients. ( 30087117 )
2018
50
Adrenocortical carcinoma misdiagnosed as hepatocellular carcinoma. ( 30102237 )
2018

Variations for Adrenocortical Carcinoma, Hereditary

ClinVar genetic disease variations for Adrenocortical Carcinoma, Hereditary:

6 (show top 50) (show all 157)
# Gene Variation Type Significance SNP ID Assembly Location
1 CHEK2 NM_007194.4(CHEK2): c.470T> C (p.Ile157Thr) single nucleotide variant risk factor rs17879961 GRCh37 Chromosome 22, 29121087: 29121087
2 CHEK2 NM_007194.4(CHEK2): c.470T> C (p.Ile157Thr) single nucleotide variant risk factor rs17879961 GRCh38 Chromosome 22, 28725099: 28725099
3 TP53 NM_000546.5(TP53): c.743G> A (p.Arg248Gln) single nucleotide variant Pathogenic/Likely pathogenic rs11540652 GRCh37 Chromosome 17, 7577538: 7577538
4 TP53 NM_000546.5(TP53): c.743G> A (p.Arg248Gln) single nucleotide variant Pathogenic/Likely pathogenic rs11540652 GRCh38 Chromosome 17, 7674220: 7674220
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.524G> A (p.Arg175His) single nucleotide variant Pathogenic rs28934578 GRCh37 Chromosome 17, 7578406: 7578406
8 TP53 NM_000546.5(TP53): c.524G> A (p.Arg175His) single nucleotide variant Pathogenic rs28934578 GRCh38 Chromosome 17, 7675088: 7675088
9 TP53 NM_000546.5(TP53): c.1010G> A (p.Arg337His) single nucleotide variant Pathogenic rs121912664 GRCh37 Chromosome 17, 7574017: 7574017
10 TP53 NM_000546.5(TP53): c.1010G> A (p.Arg337His) single nucleotide variant Pathogenic rs121912664 GRCh38 Chromosome 17, 7670699: 7670699
11 TP53 NM_000546.5(TP53): c.854A> T (p.Glu285Val) single nucleotide variant Pathogenic rs121912667 GRCh37 Chromosome 17, 7577084: 7577084
12 TP53 NM_000546.5(TP53): c.854A> T (p.Glu285Val) single nucleotide variant Pathogenic rs121912667 GRCh38 Chromosome 17, 7673766: 7673766
13 PIK3CA NM_006218.4(PIK3CA): c.3140A> G (p.His1047Arg) single nucleotide variant Pathogenic rs121913279 GRCh37 Chromosome 3, 178952085: 178952085
14 PIK3CA NM_006218.4(PIK3CA): c.3140A> G (p.His1047Arg) single nucleotide variant Pathogenic rs121913279 GRCh38 Chromosome 3, 179234297: 179234297
15 PIK3CA NM_006218.3(PIK3CA): c.3140A> T (p.His1047Leu) single nucleotide variant Pathogenic rs121913279 GRCh37 Chromosome 3, 178952085: 178952085
16 PIK3CA NM_006218.3(PIK3CA): c.3140A> T (p.His1047Leu) single nucleotide variant Pathogenic rs121913279 GRCh38 Chromosome 3, 179234297: 179234297
17 NRAS NM_002524.3(NRAS): c.182A> G (p.Gln61Arg) single nucleotide variant Pathogenic rs11554290 GRCh37 Chromosome 1, 115256529: 115256529
18 NRAS NM_002524.3(NRAS): c.182A> G (p.Gln61Arg) single nucleotide variant Pathogenic rs11554290 GRCh38 Chromosome 1, 114713908: 114713908
19 BRAF NM_004333.4(BRAF): c.1781A> G (p.Asp594Gly) single nucleotide variant Pathogenic rs121913338 GRCh37 Chromosome 7, 140453154: 140453154
20 BRAF NM_004333.4(BRAF): c.1781A> G (p.Asp594Gly) single nucleotide variant Pathogenic rs121913338 GRCh38 Chromosome 7, 140753354: 140753354
21 GNAS NM_000516.5(GNAS): c.601C> T (p.Arg201Cys) single nucleotide variant Pathogenic/Likely pathogenic rs11554273 GRCh37 Chromosome 20, 57484420: 57484420
22 GNAS NM_000516.5(GNAS): c.601C> T (p.Arg201Cys) single nucleotide variant Pathogenic/Likely pathogenic rs11554273 GRCh38 Chromosome 20, 58909365: 58909365
23 GNAS NM_000516.5(GNAS): c.602G> A (p.Arg201His) single nucleotide variant Pathogenic/Likely pathogenic rs121913495 GRCh37 Chromosome 20, 57484421: 57484421
24 GNAS NM_000516.5(GNAS): c.602G> A (p.Arg201His) single nucleotide variant Pathogenic/Likely pathogenic rs121913495 GRCh38 Chromosome 20, 58909366: 58909366
25 CTNNB1 NM_001904.3(CTNNB1): c.121A> G (p.Thr41Ala) single nucleotide variant Conflicting interpretations of pathogenicity, other rs121913412 GRCh37 Chromosome 3, 41266124: 41266124
26 CTNNB1 NM_001904.3(CTNNB1): c.121A> G (p.Thr41Ala) single nucleotide variant Conflicting interpretations of pathogenicity, other rs121913412 GRCh38 Chromosome 3, 41224633: 41224633
27 CTNNB1 NM_001904.3(CTNNB1): c.101G> T (p.Gly34Val) single nucleotide variant Conflicting interpretations of pathogenicity rs28931589 GRCh37 Chromosome 3, 41266104: 41266104
28 CTNNB1 NM_001904.3(CTNNB1): c.101G> T (p.Gly34Val) single nucleotide variant Conflicting interpretations of pathogenicity rs28931589 GRCh38 Chromosome 3, 41224613: 41224613
29 CTNNB1 NM_001904.3(CTNNB1): c.101G> A (p.Gly34Glu) single nucleotide variant Pathogenic/Likely pathogenic rs28931589 GRCh37 Chromosome 3, 41266104: 41266104
30 CTNNB1 NM_001904.3(CTNNB1): c.101G> A (p.Gly34Glu) single nucleotide variant Pathogenic/Likely pathogenic rs28931589 GRCh38 Chromosome 3, 41224613: 41224613
31 CTNNB1 NM_001904.3(CTNNB1): c.122C> T (p.Thr41Ile) single nucleotide variant Pathogenic/Likely pathogenic rs121913413 GRCh37 Chromosome 3, 41266125: 41266125
32 CTNNB1 NM_001904.3(CTNNB1): c.122C> T (p.Thr41Ile) single nucleotide variant Pathogenic/Likely pathogenic rs121913413 GRCh38 Chromosome 3, 41224634: 41224634
33 CTNNB1 NM_001904.3(CTNNB1): c.134C> T (p.Ser45Phe) single nucleotide variant Pathogenic/Likely pathogenic rs121913409 GRCh37 Chromosome 3, 41266137: 41266137
34 CTNNB1 NM_001904.3(CTNNB1): c.134C> T (p.Ser45Phe) single nucleotide variant Pathogenic/Likely pathogenic rs121913409 GRCh38 Chromosome 3, 41224646: 41224646
35 CTNNB1 NM_001904.3(CTNNB1): c.133T> C (p.Ser45Pro) single nucleotide variant Pathogenic/Likely pathogenic rs121913407 GRCh37 Chromosome 3, 41266136: 41266136
36 CTNNB1 NM_001904.3(CTNNB1): c.133T> C (p.Ser45Pro) single nucleotide variant Pathogenic/Likely pathogenic rs121913407 GRCh38 Chromosome 3, 41224645: 41224645
37 PIK3CA NM_006218.3(PIK3CA): c.3139C> T (p.His1047Tyr) single nucleotide variant Pathogenic rs121913281 GRCh37 Chromosome 3, 178952084: 178952084
38 PIK3CA NM_006218.3(PIK3CA): c.3139C> T (p.His1047Tyr) single nucleotide variant Pathogenic rs121913281 GRCh38 Chromosome 3, 179234296: 179234296
39 BRAF NM_004333.4(BRAF): c.1780G> A (p.Asp594Asn) single nucleotide variant Likely pathogenic rs397516896 GRCh37 Chromosome 7, 140453155: 140453155
40 BRAF NM_004333.4(BRAF): c.1780G> A (p.Asp594Asn) single nucleotide variant Likely pathogenic rs397516896 GRCh38 Chromosome 7, 140753355: 140753355
41 NRAS NM_002524.4(NRAS): c.181C> A (p.Gln61Lys) single nucleotide variant Uncertain significance rs121913254 GRCh37 Chromosome 1, 115256530: 115256530
42 NRAS NM_002524.4(NRAS): c.181C> A (p.Gln61Lys) single nucleotide variant Uncertain significance rs121913254 GRCh38 Chromosome 1, 114713909: 114713909
43 NRAS NM_002524.4(NRAS): c.181C> A (p.Gln61Lys) single nucleotide variant Uncertain significance rs121913254 NCBI36 Chromosome 1, 115058053: 115058053
44 TP53 NM_000546.5(TP53): c.466C> T (p.Arg156Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs563378859 GRCh37 Chromosome 17, 7578464: 7578464
45 TP53 NM_000546.5(TP53): c.466C> T (p.Arg156Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs563378859 GRCh38 Chromosome 17, 7675146: 7675146
46 TP53 NM_000546.5(TP53): c.701A> G (p.Tyr234Cys) single nucleotide variant Pathogenic/Likely pathogenic rs587780073 GRCh37 Chromosome 17, 7577580: 7577580
47 TP53 NM_000546.5(TP53): c.701A> G (p.Tyr234Cys) single nucleotide variant Pathogenic/Likely pathogenic rs587780073 GRCh38 Chromosome 17, 7674262: 7674262
48 TP53 NM_000546.5(TP53): c.847C> T (p.Arg283Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs149633775 GRCh37 Chromosome 17, 7577091: 7577091
49 TP53 NM_000546.5(TP53): c.847C> T (p.Arg283Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs149633775 GRCh38 Chromosome 17, 7673773: 7673773
50 TP53 NM_000546.5(TP53): c.638G> A (p.Arg213Gln) single nucleotide variant Pathogenic rs587778720 GRCh37 Chromosome 17, 7578211: 7578211

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 top 50) (show all 59)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.92 BRAF CTNNB1 GNAS NRAS TP53
2
Show member pathways
12.89 CTNNB1 GNAS NRAS PIK3CA TP53
3
Show member pathways
12.87 CTNNB1 GNAS NRAS PIK3CA TP53
4
Show member pathways
12.82 BRAF GNAS NRAS PIK3CA TP53
5
Show member pathways
12.74 BRAF CTNNB1 NRAS PIK3CA TP53
6
Show member pathways
12.71 BRAF CTNNB1 GNAS NRAS
7
Show member pathways
12.63 BRAF CTNNB1 NRAS PIK3CA TP53
8
Show member pathways
12.6 BRAF CTNNB1 GNAS NRAS PIK3CA
9
Show member pathways
12.58 CTNNB1 GNAS NRAS PIK3CA
10
Show member pathways
12.58 BRAF CTNNB1 NRAS PIK3CA TP53
11
Show member pathways
12.57 BRAF GNAS NRAS PIK3CA TP53
12
Show member pathways
12.51 CTNNB1 NRAS PIK3CA TP53
13
Show member pathways
12.5 BRAF NRAS PIK3CA TP53
14 12.43 MIR214 NRAS PIK3CA TP53
15
Show member pathways
12.42 BRAF NRAS PIK3CA TP53
16
Show member pathways
12.34 BRAF CTNNB1 NRAS PIK3CA TP53
17
Show member pathways
12.31 BRAF CTNNB1 NRAS PIK3CA
18
Show member pathways
12.19 BRAF NRAS PIK3CA
19 12.16 BRAF CTNNB1 GNAS NRAS PIK3CA TP53
20
Show member pathways
12.11 BRAF GNAS NRAS
21
Show member pathways
12.11 BRAF NRAS PIK3CA TP53
22
Show member pathways
12.11 BRAF CTNNB1 GNAS NRAS PIK3CA
23
Show member pathways
12.08 CHEK2 CTNNB1 NRAS PIK3CA TP53
24
Show member pathways
12.06 BRAF NRAS TP53
25
Show member pathways
12.06 GNAS NRAS PIK3CA
26
Show member pathways
12.06 NRAS PIK3CA TP53
27 12.05 NRAS PIK3CA TP53
28 12.05 BRAF CTNNB1 GNAS TP53
29 12.03 CHEK2 NRAS PIK3CA TP53
30
Show member pathways
12.02 BRAF NRAS PIK3CA TP53
31 12.01 CTNNB1 PIK3CA TP53
32 12.01 CTNNB1 NRAS PIK3CA
33
Show member pathways
12.01 BRAF NRAS PIK3CA
34 11.98 BRAF CHEK2 CTNNB1 TP53
35
Show member pathways
11.95 BRAF PIK3CA TP53
36 11.93 NRAS PIK3CA TP53
37 11.92 BRAF GNAS NRAS
38 11.89 CHEK2 CTNNB1 NRAS PIK3CA TP53
39
Show member pathways
11.87 BRAF CTNNB1 GNAS PIK3CA
40 11.81 BRAF CTNNB1 GNAS
41 11.8 CTNNB1 NRAS PIK3CA TP53
42 11.77 CTNNB1 NRAS PIK3CA TP53
43
Show member pathways
11.74 BRAF NRAS PIK3CA
44 11.71 BRAF CTNNB1 NRAS TP53
45 11.68 BRAF NRAS TP53
46 11.63 BRAF GNAS PIK3CA
47 11.61 CHEK2 PIK3CA TP53
48 11.59 NRAS PIK3CA TP53
49 11.55 BRAF GNAS NRAS
50 11.5 CHEK2 NRAS TP53

GO Terms for Adrenocortical Carcinoma, Hereditary

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

# Name GO ID Score Top Affiliating Genes
1 micro-ribonucleoprotein complex GO:0035068 9.02 H19 MIR184 MIR214 MIR503 MIR511

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of angiogenesis GO:0016525 9.54 CTNNB1 MIR214 MIR503
2 response to gamma radiation GO:0010332 9.51 CHEK2 TP53
3 cellular response to gamma radiation GO:0071480 9.49 CHEK2 TP53
4 embryonic hindlimb morphogenesis GO:0035116 9.48 CTNNB1 GNAS
5 intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator GO:0042771 9.46 CHEK2 TP53
6 vasculature development GO:0001944 9.43 CTNNB1 PIK3CA
7 negative regulation of vascular associated smooth muscle cell migration GO:1904753 9.4 MIR214 MIR503
8 gene silencing by miRNA GO:0035195 9.35 H19 MIR184 MIR214 MIR503 MIR511
9 cellular response to drug GO:0035690 9.33 BRAF CHEK2 TP53
10 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.32 CHEK2 TP53
11 replicative senescence GO:0090399 9.26 CHEK2 TP53
12 hair follicle placode formation GO:0060789 8.62 CTNNB1 GNAS

Sources for Adrenocortical Carcinoma, Hereditary

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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