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 liver, 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 204)
# 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 lynch syndrome 30.3 BRAF CTNNB1 TP53
4 adenoma 30.3 BRAF CTNNB1 GNAS 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 squamous cell carcinoma 29.1 BRAF CHEK2 CTNNB1 H19 PIK3CA TP53
9 adenocarcinoma 29.0 BRAF CTNNB1 GNAS H19 PIK3CA TP53
10 breast cancer 29.0 BRAF CHEK2 CTNNB1 GNAS H19 PIK3CA
11 neuroblastoma 29.0 CTNNB1 H19 MIR184 NRAS PIK3CA TP53
12 colorectal cancer 28.8 BRAF CHEK2 CTNNB1 GNAS H19 NRAS
13 lung cancer susceptibility 3 28.8 BRAF CTNNB1 GNAS H19 NRAS PIK3CA
14 hepatocellular carcinoma 28.6 CTNNB1 GNAS H19 MIR214 NRAS PIK3CA
15 lung cancer 28.1 BRAF CHEK2 H19 MIR214 MIR511 NRAS
16 adrenal cortical carcinoma 12.5
17 adrenocortical carcinoma with pure aldosterone hypersecretion 12.3
18 adrenal cortical adenocarcinoma 12.2
19 adrenal carcinoma 12.1
20 li-fraumeni syndrome 11.7
21 conn's syndrome 10.5
22 nevus of ota 10.4 BRAF TP53
23 bladder squamous cell carcinoma 10.4 BRAF TP53
24 hyperplastic polyposis syndrome 10.4 BRAF TP53
25 rare adenocarcinoma of the breast 10.3 PIK3CA TP53
26 spitz nevus 10.3 BRAF TP53
27 malignant spiradenoma 10.3 PIK3CA TP53
28 prostate transitional cell carcinoma 10.3 CTNNB1 PIK3CA
29 papillary craniopharyngioma 10.3 BRAF CTNNB1
30 female reproductive endometrioid cancer 10.3 CTNNB1 TP53
31 uterine corpus serous adenocarcinoma 10.3 PIK3CA TP53
32 breast squamous cell carcinoma 10.3 PIK3CA TP53
33 mature teratoma 10.3 BRAF TP53
34 urachal adenocarcinoma 10.3 BRAF GNAS
35 acral lentiginous melanoma 10.3 BRAF NRAS
36 uterine body mixed cancer 10.3 PIK3CA TP53
37 colonic benign neoplasm 10.3 BRAF CTNNB1
38 marek disease 10.3 H19 TP53
39 anal squamous cell carcinoma 10.3 PIK3CA TP53
40 renal cell carcinoma, nonpapillary 10.3
41 meningeal melanomatosis 10.3 NRAS TP53
42 pleomorphic xanthoastrocytoma 10.3 BRAF TP53
43 pilocytic astrocytoma of cerebellum 10.3 BRAF GNAS
44 ovarian epithelial cancer 10.3 H19 PIK3CA
45 hemimegalencephaly 10.2 CTNNB1 PIK3CA
46 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 10.2 PIK3CA TP53
47 adult hepatocellular carcinoma 10.2 CTNNB1 PIK3CA TP53
48 small cell sarcoma 10.2 NRAS TP53
49 colorectal adenocarcinoma 10.2 BRAF CTNNB1 TP53
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 metabolism/homeostasis 60 Frequent (79-30%)
27 abnormality of urine homeostasis 60 Occasional (29-5%)
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, Liver, Adrenal Gland, Lung, Testes, Thyroid

Publications for Adrenocortical Carcinoma, Hereditary

Articles related to Adrenocortical Carcinoma, Hereditary:

(show top 50) (show all 1182)
# Title Authors Year
1
Precocious pseudopuberty due to virilising adrenocortical carcinoma progressing to central precocious puberty after surgery. ( 30862670 )
2019
2
18F-FDG PET reveals an adrenocortical carcinoma in a bilateral adrenal multinodular disease. ( 30251165 )
2019
3
Patterns of Lymph Node Recurrence in Adrenocortical Carcinoma: Possible Implications for Primary Surgical Treatment. ( 30443830 )
2019
4
Case Report of an Adrenocortical Carcinoma Associated With Germline CHEK2 Mutation. ( 30623166 )
2019
5
Adrenocortical carcinoma in patients with MEN1: a kindred report and review of the literature. ( 30721134 )
2019
6
Operative Management of Recurrent and Metastatic Adrenocortical Carcinoma: A Systematic Review. ( 30760340 )
2019
7
Targeted assessment of G0S2 methylation identifies a rapidly recurrent, routinely fatal molecular subtype of adrenocortical carcinoma. ( 30770352 )
2019
8
Management of Adrenocortical Carcinoma. ( 30798468 )
2019
9
Expression profiles analysis identifies the values of carcinogenesis and the prognostic prediction of three genes in adrenocortical carcinoma. ( 30816525 )
2019
10
A case of metastatic adrenocortical carcinoma. ( 30863550 )
2019
11
Identification of four hub genes associated with adrenocortical carcinoma progression by WGCNA. ( 30886771 )
2019
12
Adjuvant radiotherapy after surgical resection for adrenocortical carcinoma: A systematic review of observational studies and meta-analysis. ( 30900615 )
2019
13
Label-free impedimetric immunosensor based on arginine-functionalized gold nanoparticles for detection of DHEAS, a biomarker of pediatric adrenocortical carcinoma. ( 30909017 )
2019
14
Co-culture of H295R Adrenocortical Carcinoma and BeWo Choriocarcinoma Cells to Study Feto-placental Interactions: Focus on Estrogen Biosynthesis. ( 29197012 )
2018
15
Adrenocortical carcinoma characterized by gynecomastia: A case report. ( 29403152 )
2018
16
Synchronous adrenocortical carcinoma and ovarian malignant mixed germ cell tumor: A case report and literature review. ( 29768344 )
2018
17
Adrenocortical carcinoma misdiagnosed as hepatocellular carcinoma. ( 30102237 )
2018
18
Adrenocortical Carcinoma Presenting as Reversible Dilated Cardiomyopathy. ( 30505399 )
2018
19
High-Dose Mitotane-Induced Encephalopathy in the Treatment of Adrenocortical Carcinoma. ( 29192018 )
2018
20
Incidentally detected adrenocortical carcinoma in familial adenomatous polyposis: an unusual presentation of a hereditary cancer syndrome. ( 30181409 )
2018
21
The coexistence of Cushing syndrome and gynecomastia as the manifestations of adrenocortical carcinoma. ( 30527206 )
2018
22
Composite Adrenocortical Carcinoma and Neuroblastoma in an Infant With a TP53 Germline Mutation: A Case Report and Literature Review. ( 29746440 )
2018
23
RNA-Sequencing Analysis of Adrenocortical Carcinoma, Pheochromocytoma and Paraganglioma from a Pan-Cancer Perspective. ( 30558313 )
2018
24
CYP11B1 has no role in mitotane action and metabolism in adrenocortical carcinoma cells. ( 29734384 )
2018
25
Immunohistochemical expression of glypican-3 in adrenocortical carcinoma: A potential cause of diagnostic pitfalls. ( 29748062 )
2018
26
Adjuvant Radiation is Associated with Improved Survival for Select Patients with Non-metastatic Adrenocortical Carcinoma. ( 29748889 )
2018
27
Bone metastasis located on foot as a clinical presentation of an adrenocortical carcinoma. ( 29752041 )
2018
28
Adrenocortical Carcinoma with Hypercortisolism. ( 29754640 )
2018
29
MECHANISMS OF ENDOCRINOLOGY: Cell cycle regulation in adrenocortical carcinoma. ( 29773584 )
2018
30
Elucidating the Role of the Maternal Embryonic Leucine Zipper Kinase in Adrenocortical Carcinoma. ( 29790920 )
2018
31
Adrenocortical Carcinoma in Children: A Clinicopathological Analysis of 41 Patients at the Mayo Clinic from 1950 to 2017. ( 29804118 )
2018
32
Nicotinamide Nucleotide Transhydrogenase as a Novel Treatment Target in Adrenocortical Carcinoma. ( 29850793 )
2018
33
Role of Additional Organ Resection in Adrenocortical Carcinoma: Analysis of 167 Patients from the U.S. Adrenocortical Carcinoma Database. ( 29868977 )
2018
34
SLC12A7 alters adrenocortical carcinoma cell adhesion properties to promote an aggressive invasive behavior. ( 29884238 )
2018
35
TERT promoter hypermethylation is associated with poor prognosis in adrenocortical carcinoma. ( 29956721 )
2018
36
Benefits of Adjuvant Mitotane after Resection of Adrenocortical Carcinoma: A Systematic Review and Meta-Analysis. ( 29967789 )
2018
37
Prognostic factors in adrenocortical carcinoma: data from a large Polish series. ( 29968693 )
2018
38
The Characteristics and Trends in Adrenocortical Carcinoma: A United States Population Based Study. ( 29977421 )
2018
39
Predictors of Survival in Adrenocortical Carcinoma: An Analysis From the National Cancer Database. ( 29982685 )
2018
40
A Rare Adrenal Incidentaloma That Mimics Adrenocortical Carcinoma. ( 29984033 )
2018
41
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
42
Feminizing Adrenocortical Carcinoma: The Source of Estrogen Production and the Role of Adrenal-Gonadal Dedifferentiation. ( 30053001 )
2018
43
Pathobiology and genetics of adrenocortical carcinoma. ( 30072419 )
2018
44
Enzyme autoinduction by mitotane supported by population pharmacokinetic modelling in a large cohort of adrenocortical carcinoma patients. ( 30087117 )
2018
45
Adrenocortical carcinoma (ACC): When and why should we consider germline testing? ( 30104051 )
2018
46
A case of Avascular Necrosis in a patient with Adrenocortical Carcinoma and Disseminated Metastasis. ( 30108401 )
2018
47
Decision-making for adrenocortical carcinoma: surgical, systemic, and endocrine management options. ( 30117750 )
2018
48
Co-expression Network Analysis of Biomarkers for Adrenocortical Carcinoma. ( 30158955 )
2018
49
Mitotane in the treatment of childhood adrenocortical carcinoma: a potent endocrine disruptor. ( 30159150 )
2018
50
Adrenalectomy with nephrectomy, right hepatectomy and inferior vena cava thrombectomy for adrenocortical carcinoma (with video). ( 30173707 )
2018

Variations for Adrenocortical Carcinoma, Hereditary

ClinVar genetic disease variations for Adrenocortical Carcinoma, Hereditary:

6 (show top 50) (show all 139)
# Gene Variation Type Significance SNP ID Assembly Location
1 TP53 NM_000546.5(TP53): c.374C> T (p.Thr125Met) single nucleotide variant Conflicting interpretations of pathogenicity rs786201057 GRCh38 Chromosome 17, 7675995: 7675995
2 TP53 NM_000546.5(TP53): c.374C> T (p.Thr125Met) single nucleotide variant Conflicting interpretations of pathogenicity rs786201057 GRCh37 Chromosome 17, 7579313: 7579313
3 GNAS NM_000516.5(GNAS): c.602G> T (p.Arg201Leu) single nucleotide variant Pathogenic/Likely pathogenic rs121913495 GRCh37 Chromosome 20, 57484421: 57484421
4 GNAS NM_000516.5(GNAS): c.602G> T (p.Arg201Leu) single nucleotide variant Pathogenic/Likely pathogenic rs121913495 GRCh38 Chromosome 20, 58909366: 58909366
5 TP53 NM_000546.5(TP53): c.824G> A (p.Cys275Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs863224451 GRCh38 Chromosome 17, 7673796: 7673796
6 TP53 NM_000546.5(TP53): c.824G> A (p.Cys275Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs863224451 GRCh37 Chromosome 17, 7577114: 7577114
7 TP53 NM_000546.5(TP53): c.374C> A (p.Thr125Lys) single nucleotide variant Uncertain significance rs786201057 GRCh38 Chromosome 17, 7675995: 7675995
8 TP53 NM_000546.5(TP53): c.374C> A (p.Thr125Lys) single nucleotide variant Uncertain significance rs786201057 GRCh37 Chromosome 17, 7579313: 7579313
9 TP53 NM_000546.5(TP53): c.700T> G (p.Tyr234Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs864622237 GRCh38 Chromosome 17, 7674263: 7674263
10 TP53 NM_000546.5(TP53): c.700T> G (p.Tyr234Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs864622237 GRCh37 Chromosome 17, 7577581: 7577581
11 CHEK2 NM_007194.4(CHEK2): c.470T> C (p.Ile157Thr) single nucleotide variant risk factor rs17879961 GRCh37 Chromosome 22, 29121087: 29121087
12 CHEK2 NM_007194.4(CHEK2): c.470T> C (p.Ile157Thr) single nucleotide variant risk factor rs17879961 GRCh38 Chromosome 22, 28725099: 28725099
13 TP53 NM_000546.5(TP53): c.818G> A (p.Arg273His) single nucleotide variant Pathogenic/Likely pathogenic rs28934576 GRCh37 Chromosome 17, 7577120: 7577120
14 TP53 NM_000546.5(TP53): c.818G> A (p.Arg273His) single nucleotide variant Pathogenic/Likely pathogenic rs28934576 GRCh38 Chromosome 17, 7673802: 7673802
15 TP53 NM_000546.5(TP53): c.1010G> A (p.Arg337His) single nucleotide variant Pathogenic rs121912664 GRCh37 Chromosome 17, 7574017: 7574017
16 TP53 NM_000546.5(TP53): c.1010G> A (p.Arg337His) single nucleotide variant Pathogenic rs121912664 GRCh38 Chromosome 17, 7670699: 7670699
17 TP53 NM_000546.5(TP53): c.854A> T (p.Glu285Val) single nucleotide variant Pathogenic rs121912667 GRCh37 Chromosome 17, 7577084: 7577084
18 TP53 NM_000546.5(TP53): c.854A> T (p.Glu285Val) single nucleotide variant Pathogenic rs121912667 GRCh38 Chromosome 17, 7673766: 7673766
19 PIK3CA NM_006218.3(PIK3CA): c.3140A> G (p.His1047Arg) single nucleotide variant Pathogenic rs121913279 GRCh37 Chromosome 3, 178952085: 178952085
20 PIK3CA NM_006218.3(PIK3CA): c.3140A> G (p.His1047Arg) single nucleotide variant Pathogenic rs121913279 GRCh38 Chromosome 3, 179234297: 179234297
21 PIK3CA NM_006218.3(PIK3CA): c.3140A> T (p.His1047Leu) single nucleotide variant Pathogenic rs121913279 GRCh37 Chromosome 3, 178952085: 178952085
22 PIK3CA NM_006218.3(PIK3CA): c.3140A> T (p.His1047Leu) single nucleotide variant Pathogenic rs121913279 GRCh38 Chromosome 3, 179234297: 179234297
23 NRAS NM_002524.4(NRAS): c.182A> G (p.Gln61Arg) single nucleotide variant Pathogenic rs11554290 GRCh37 Chromosome 1, 115256529: 115256529
24 NRAS NM_002524.4(NRAS): c.182A> G (p.Gln61Arg) single nucleotide variant Pathogenic rs11554290 GRCh38 Chromosome 1, 114713908: 114713908
25 BRAF NM_004333.4(BRAF): c.1781A> G (p.Asp594Gly) single nucleotide variant Pathogenic rs121913338 GRCh37 Chromosome 7, 140453154: 140453154
26 BRAF NM_004333.4(BRAF): c.1781A> G (p.Asp594Gly) single nucleotide variant Pathogenic rs121913338 GRCh38 Chromosome 7, 140753354: 140753354
27 GNAS NM_000516.5(GNAS): c.601C> T (p.Arg201Cys) single nucleotide variant Pathogenic/Likely pathogenic rs11554273 GRCh37 Chromosome 20, 57484420: 57484420
28 GNAS NM_000516.5(GNAS): c.601C> T (p.Arg201Cys) single nucleotide variant Pathogenic/Likely pathogenic rs11554273 GRCh38 Chromosome 20, 58909365: 58909365
29 GNAS NM_000516.5(GNAS): c.602G> A (p.Arg201His) single nucleotide variant Pathogenic/Likely pathogenic rs121913495 GRCh37 Chromosome 20, 57484421: 57484421
30 GNAS NM_000516.5(GNAS): c.602G> A (p.Arg201His) single nucleotide variant Pathogenic/Likely pathogenic rs121913495 GRCh38 Chromosome 20, 58909366: 58909366
31 CTNNB1 NM_001904.3(CTNNB1): c.121A> G (p.Thr41Ala) single nucleotide variant Conflicting interpretations of pathogenicity, other rs121913412 GRCh37 Chromosome 3, 41266124: 41266124
32 CTNNB1 NM_001904.3(CTNNB1): c.121A> G (p.Thr41Ala) single nucleotide variant Conflicting interpretations of pathogenicity, other rs121913412 GRCh38 Chromosome 3, 41224633: 41224633
33 CTNNB1 NM_001904.3(CTNNB1): c.101G> T (p.Gly34Val) single nucleotide variant Conflicting interpretations of pathogenicity rs28931589 GRCh37 Chromosome 3, 41266104: 41266104
34 CTNNB1 NM_001904.3(CTNNB1): c.101G> T (p.Gly34Val) single nucleotide variant Conflicting interpretations of pathogenicity rs28931589 GRCh38 Chromosome 3, 41224613: 41224613
35 CTNNB1 NM_001904.3(CTNNB1): c.101G> A (p.Gly34Glu) single nucleotide variant Pathogenic/Likely pathogenic rs28931589 GRCh37 Chromosome 3, 41266104: 41266104
36 CTNNB1 NM_001904.3(CTNNB1): c.101G> A (p.Gly34Glu) single nucleotide variant Pathogenic/Likely pathogenic rs28931589 GRCh38 Chromosome 3, 41224613: 41224613
37 CTNNB1 NM_001904.3(CTNNB1): c.122C> T (p.Thr41Ile) single nucleotide variant Pathogenic/Likely pathogenic rs121913413 GRCh37 Chromosome 3, 41266125: 41266125
38 CTNNB1 NM_001904.3(CTNNB1): c.122C> T (p.Thr41Ile) single nucleotide variant Pathogenic/Likely pathogenic rs121913413 GRCh38 Chromosome 3, 41224634: 41224634
39 CTNNB1 NM_001904.3(CTNNB1): c.134C> T (p.Ser45Phe) single nucleotide variant Pathogenic/Likely pathogenic rs121913409 GRCh37 Chromosome 3, 41266137: 41266137
40 CTNNB1 NM_001904.3(CTNNB1): c.134C> T (p.Ser45Phe) single nucleotide variant Pathogenic/Likely pathogenic rs121913409 GRCh38 Chromosome 3, 41224646: 41224646
41 CTNNB1 NM_001904.3(CTNNB1): c.133T> C (p.Ser45Pro) single nucleotide variant Pathogenic/Likely pathogenic rs121913407 GRCh37 Chromosome 3, 41266136: 41266136
42 CTNNB1 NM_001904.3(CTNNB1): c.133T> C (p.Ser45Pro) single nucleotide variant Pathogenic/Likely pathogenic rs121913407 GRCh38 Chromosome 3, 41224645: 41224645
43 PIK3CA NM_006218.3(PIK3CA): c.3139C> T (p.His1047Tyr) single nucleotide variant Pathogenic rs121913281 GRCh37 Chromosome 3, 178952084: 178952084
44 PIK3CA NM_006218.3(PIK3CA): c.3139C> T (p.His1047Tyr) single nucleotide variant Pathogenic rs121913281 GRCh38 Chromosome 3, 179234296: 179234296
45 BRAF NM_004333.4(BRAF): c.1780G> A (p.Asp594Asn) single nucleotide variant Likely pathogenic rs397516896 GRCh37 Chromosome 7, 140453155: 140453155
46 BRAF NM_004333.4(BRAF): c.1780G> A (p.Asp594Asn) single nucleotide variant Likely pathogenic rs397516896 GRCh38 Chromosome 7, 140753355: 140753355
47 NRAS NM_002524.4(NRAS): c.181C> A (p.Gln61Lys) single nucleotide variant Uncertain significance rs121913254 GRCh37 Chromosome 1, 115256530: 115256530
48 NRAS NM_002524.4(NRAS): c.181C> A (p.Gln61Lys) single nucleotide variant Uncertain significance rs121913254 GRCh38 Chromosome 1, 114713909: 114713909
49 NRAS NM_002524.4(NRAS): c.181C> A (p.Gln61Lys) single nucleotide variant Uncertain significance rs121913254 NCBI36 Chromosome 1, 115058053: 115058053
50 TP53 NM_000546.5(TP53): c.701A> G (p.Tyr234Cys) single nucleotide variant Pathogenic/Likely pathogenic rs587780073 GRCh37 Chromosome 17, 7577580: 7577580

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 57)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.91 BRAF CTNNB1 GNAS NRAS TP53
2
Show member pathways
12.88 CTNNB1 GNAS NRAS PIK3CA TP53
3
Show member pathways
12.86 CTNNB1 GNAS NRAS PIK3CA TP53
4
Show member pathways
12.82 BRAF GNAS NRAS PIK3CA TP53
5
Show member pathways
12.73 BRAF CTNNB1 NRAS PIK3CA TP53
6
Show member pathways
12.71 BRAF CTNNB1 GNAS NRAS
7
Show member pathways
12.61 BRAF CTNNB1 NRAS PIK3CA TP53
8
Show member pathways
12.58 BRAF CTNNB1 GNAS NRAS PIK3CA
9
Show member pathways
12.57 CTNNB1 GNAS NRAS PIK3CA
10
Show member pathways
12.55 BRAF GNAS NRAS PIK3CA TP53
11
Show member pathways
12.55 BRAF CTNNB1 NRAS PIK3CA TP53
12
Show member pathways
12.5 CTNNB1 NRAS PIK3CA TP53
13
Show member pathways
12.49 BRAF NRAS PIK3CA TP53
14 12.42 MIR214 NRAS PIK3CA TP53
15
Show member pathways
12.41 BRAF NRAS PIK3CA TP53
16
Show member pathways
12.3 BRAF CTNNB1 NRAS PIK3CA
17
Show member pathways
12.18 BRAF NRAS PIK3CA
18 12.16 BRAF CTNNB1 GNAS NRAS PIK3CA TP53
19
Show member pathways
12.1 BRAF GNAS NRAS
20
Show member pathways
12.1 BRAF NRAS PIK3CA TP53
21
Show member pathways
12.1 BRAF CTNNB1 GNAS NRAS PIK3CA
22
Show member pathways
12.08 CHEK2 CTNNB1 NRAS PIK3CA TP53
23
Show member pathways
12.06 BRAF NRAS TP53
24 12.05 NRAS PIK3CA TP53
25
Show member pathways
12.05 GNAS NRAS PIK3CA
26
Show member pathways
12.05 NRAS PIK3CA TP53
27 12.03 BRAF CTNNB1 GNAS TP53
28 12.01 CTNNB1 PIK3CA TP53
29 12.01 CTNNB1 NRAS PIK3CA
30
Show member pathways
12 BRAF NRAS PIK3CA
31 12 CHEK2 NRAS PIK3CA TP53
32
Show member pathways
11.98 BRAF NRAS PIK3CA TP53
33
Show member pathways
11.95 BRAF PIK3CA TP53
34 11.95 BRAF CHEK2 CTNNB1 TP53
35 11.93 NRAS PIK3CA TP53
36 11.91 BRAF GNAS NRAS
37 11.89 CHEK2 CTNNB1 NRAS PIK3CA TP53
38 11.8 BRAF CTNNB1 GNAS
39 11.8 CTNNB1 NRAS PIK3CA TP53
40 11.77 CTNNB1 NRAS PIK3CA TP53
41
Show member pathways
11.73 BRAF NRAS PIK3CA
42 11.71 BRAF CTNNB1 NRAS TP53
43 11.67 BRAF NRAS TP53
44 11.62 BRAF GNAS PIK3CA
45 11.6 CHEK2 PIK3CA TP53
46 11.58 NRAS PIK3CA TP53
47 11.53 BRAF GNAS NRAS
48 11.49 CHEK2 NRAS TP53
49 11.32 BRAF CTNNB1 NRAS PIK3CA TP53
50 11.3 BRAF GNAS NRAS PIK3CA

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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