MCID: CHL128
MIFTS: 49

Childhood Hepatocellular Carcinoma

Categories: Rare diseases, Liver diseases, Cancer diseases

Aliases & Classifications for Childhood Hepatocellular Carcinoma

MalaCards integrated aliases for Childhood Hepatocellular Carcinoma:

Name: Childhood Hepatocellular Carcinoma 53 29 6 73
Pediatric Hepatocellular Carcinoma 53 59
Childhood-Onset Hepatocellular Carcinoma 59
Childhood Carcinoma of Liver Cell 53
Pediatric Carcinoma of Liver Cell 53
Childhood Liver Cell Carcinoma 53
Pediatric Liver Cell Carcinoma 53
Childhood Liver Cancer 73
Childhood-Onset Hcc 59
Childhood Hepatoma 53
Pediatric Hepatoma 53
Pediatric Hcc 59

Characteristics:

Orphanet epidemiological data:

59
pediatric hepatocellular carcinoma
Inheritance: Not applicable; Prevalence: 1-9/1000000 (Europe),<1/1000000 (United States); Age of onset: Adolescent,Childhood; Age of death: adolescent,adult,early childhood,late childhood,young Adult;

Classifications:

Orphanet: 59  
Rare hepatic diseases


External Ids:

Orphanet 59 ORPHA33402
ICD10 via Orphanet 34 C22.0

Summaries for Childhood Hepatocellular Carcinoma

NIH Rare Diseases : 53 Childhood hepatocellular carcinoma (childhood HCC) is a rare type of malignant (cancerous) tumor that forms in the cells and tissues of the liver. Childhood HCC is usually found in older children and adolescents (10-14 years), but has been found in children younger than 5. Symptoms may include a mass in the abdomen, a swollen and painful abdomen, weight loss, poor appetite, yellowing of the skin and eyes (jaundice), vomiting, fever, itchy skin, and a decreased number of red blood cells (anemia). The cause of childhood HCC is not well understood; however, underlying disorders that cause liver dysfunction (ex. hepatitis B) and congenital or genetic disorders that affect the liver (ex. tyrosinemia type 1) may increase the risk for childhood HCC to occur. Treatment options vary depending on a variety of factors including the stage of the cancer and may include surgery to remove the tumor and chemotherapy.

MalaCards based summary : Childhood Hepatocellular Carcinoma, also known as pediatric hepatocellular carcinoma, is related to hepatocellular carcinoma and hepatitis, and has symptoms including abdominal pain, fever and icterus. An important gene associated with Childhood Hepatocellular Carcinoma is MET (MET Proto-Oncogene, Receptor Tyrosine Kinase), and among its related pathways/superpathways are Apoptosis Pathway and Proteoglycans in cancer. The drugs Sorafenib and Pregabalin have been mentioned in the context of this disorder. Affiliated tissues include liver, eye and skin, and related phenotypes are hepatic fibrosis and abdominal pain

Related Diseases for Childhood Hepatocellular Carcinoma

Graphical network of the top 20 diseases related to Childhood Hepatocellular Carcinoma:



Diseases related to Childhood Hepatocellular Carcinoma

Symptoms & Phenotypes for Childhood Hepatocellular Carcinoma

Human phenotypes related to Childhood Hepatocellular Carcinoma:

59 32 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hepatic fibrosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001395
2 abdominal pain 59 32 hallmark (90%) Very frequent (99-80%) HP:0002027
3 hepatomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0002240
4 elevated alpha-fetoprotein 59 32 hallmark (90%) Very frequent (99-80%) HP:0006254
5 vomiting 59 32 frequent (33%) Frequent (79-30%) HP:0002013
6 hepatic necrosis 59 32 frequent (33%) Frequent (79-30%) HP:0002605
7 fatigue 59 32 frequent (33%) Frequent (79-30%) HP:0012378
8 portal vein thrombosis 59 32 frequent (33%) Frequent (79-30%) HP:0030242
9 epigastric pain 59 32 frequent (33%) Frequent (79-30%) HP:0410019

UMLS symptoms related to Childhood Hepatocellular Carcinoma:


abdominal pain, fever, icterus, malaise

GenomeRNAi Phenotypes related to Childhood Hepatocellular Carcinoma according to GeneCards Suite gene sharing:

26 (show all 24)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.58 CTNNB1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.58 CTNNB1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-125 9.58 EPCAM
4 Increased shRNA abundance (Z-score > 2) GR00366-A-157 9.58 EPCAM
5 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.58 EPCAM
6 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.58 EPCAM
7 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.58 CTNNB1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-197 9.58 CTNNB1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-25 9.58 EPCAM
10 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.58 CTNNB1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.58 CTNNB1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.58 EPCAM
13 Increased shRNA abundance (Z-score > 2) GR00366-A-67 9.58 CTNNB1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.58 CTNNB1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.58 CTNNB1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-79 9.58 CTNNB1 EPCAM
17 Increased shRNA abundance (Z-score > 2) GR00366-A-92 9.58 EPCAM
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-10 9.56 MET
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-119 9.56 MET
20 Decreased shRNA abundance (Z-score < -2) GR00366-A-150 9.56 MET
21 Decreased shRNA abundance (Z-score < -2) GR00366-A-18 9.56 CTNNB1
22 Decreased shRNA abundance (Z-score < -2) GR00366-A-191 9.56 MET CTNNB1
23 Decreased shRNA abundance (Z-score < -2) GR00366-A-38 9.56 MET
24 Decreased shRNA abundance (Z-score < -2) GR00366-A-98 9.56 MET

MGI Mouse Phenotypes related to Childhood Hepatocellular Carcinoma:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.33 CTNNB1 EPCAM MET
2 embryo MP:0005380 9.13 EPCAM MET CTNNB1
3 no phenotypic analysis MP:0003012 8.8 CTNNB1 EPCAM MET

Drugs & Therapeutics for Childhood Hepatocellular Carcinoma

Drugs for Childhood Hepatocellular Carcinoma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 147)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sorafenib Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 284461-73-0 216239 406563
2
Pregabalin Approved, Illicit, Investigational Phase 4 148553-50-8 5486971
3
Nicotinamide Approved, Investigational, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 98-92-0 936
4
Niacin Approved, Investigational, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 59-67-6 938
5
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 59-30-3 6037
6 Micronutrients Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
7 Nicotinic Acids Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
8 Trace Elements Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
9 Vitamin B Complex Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
10 Vitamins Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
11 Liver Extracts Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
12 Protein Kinase Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
13 Analgesics Phase 4,Phase 1
14 Central Nervous System Depressants Phase 4,Phase 1
15 Peripheral Nervous System Agents Phase 4,Phase 1
16 Calcium, Dietary Phase 4,Phase 2
17 calcium channel blockers Phase 4
18 Tranquilizing Agents Phase 4
19 Anti-Anxiety Agents Phase 4
20 Anticonvulsants Phase 4
21 Psychotropic Drugs Phase 4
22 Folate Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
23 Vitamin B3 Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
24 Vitamin B9 Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
25
Cisplatin Approved Phase 3,Phase 2 15663-27-1 84093 441203 2767
26
Doxorubicin Approved, Investigational Phase 3,Phase 2,Phase 1,Not Applicable 23214-92-8 31703
27
Tranexamic Acid Approved Phase 2, Phase 3 1197-18-8 5526
28
Carboplatin Approved Phase 3 41575-94-4 10339178 498142 38904
29
Mineral oil Approved, Vet_approved Phase 3 8042-47-5
30
Ethiodized oil Approved, Investigational Phase 3 8008-53-5
31
Doxil Approved June 1999 Phase 3,Phase 2,Phase 1,Not Applicable 31703
32
Tremelimumab Investigational Phase 3 745013-59-6
33 Coagulants Phase 2, Phase 3
34 Hemostatics Phase 2, Phase 3
35 Topoisomerase Inhibitors Phase 3,Phase 2,Phase 1,Not Applicable
36 Angiogenesis Inhibitors Phase 2, Phase 3
37 Anti-Bacterial Agents Phase 3,Phase 2,Phase 1,Not Applicable
38 Antibiotics, Antitubercular Phase 3,Phase 2,Phase 1,Not Applicable
39 Antifibrinolytic Agents Phase 2, Phase 3
40 Dermatologic Agents Phase 3
41 Emollients Phase 3
42 Antibodies Phase 3,Phase 1,Phase 2
43 Immunoglobulins Phase 3,Phase 1,Phase 2
44 Antibodies, Monoclonal Phase 3,Phase 1,Phase 2
45 tyrosine Nutraceutical Phase 2, Phase 3,Phase 1
46 Omega 3 Fatty Acid Nutraceutical Phase 3
47
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
48
Oxaliplatin Approved, Investigational Phase 1, Phase 2,Phase 2 61825-94-3 5310940 9887054 43805 6857599
49
Fluorouracil Approved Phase 2 51-21-8 3385
50
Capecitabine Approved, Investigational Phase 2 154361-50-9 60953

Interventional clinical trials:

(show top 50) (show all 135)
# Name Status NCT ID Phase Drugs
1 Effect of Pregabalin on the Postoperative Analgesia in RFA of Focal Lesions in the Liver Recruiting NCT03151213 Phase 4 Pregabalin 150mg
2 HCV-RNA Kinetics During Sorafenib for Hepatocellular Carcinoma (HCC) Terminated NCT01849588 Phase 4 Sorafenib
3 Transarterial Chemoembolization Using Doxorubicin Beads With or Without Sorafenib Tosylate in Treating Patients With Liver Cancer That Cannot Be Removed By Surgery Unknown status NCT01324076 Phase 3 doxorubicin-eluting beads;sorafenib tosylate
4 Study of Tranexamic Acid for Reducing Blood Requirement in Patients Undergoing Major Gastro-intestinal Surgery Unknown status NCT01655641 Phase 2, Phase 3 Tranexamic acid
5 Omega 3 Supplementation in Fatty Liver Completed NCT01992809 Phase 3
6 Chemotherapy in Treating Children With Liver Cancer Completed NCT00003912 Phase 3 carboplatin;cisplatin;doxorubicin hydrochloride
7 TACE vs TACE+SBRT for Unresectable Hepatocellular Cancer Recruiting NCT02794337 Phase 2, Phase 3 Sorafenib
8 Efficacy and Safety of Donafenib in Patients With Advanced Hepatocellular Carcinoma Recruiting NCT02645981 Phase 2, Phase 3 Donafenib;Sorafenib
9 Cisplatin and Combination Chemotherapy in Treating Children and Young Adults With Hepatoblastoma or Liver Cancer After Surgery Recruiting NCT03533582 Phase 2, Phase 3 Carboplatin;Cisplatin;Doxorubicin;Etoposide;Fluorouracil;Gemcitabine;Irinotecan;Oxaliplatin;Sorafenib;Vincristine Sulfate
10 Study of Durvalumab and Tremelimumab as First-line Treatment in Patients With Unresectable Hepatocellular Carcinoma Recruiting NCT03298451 Phase 3 Durvalumab;Tremelimumab (Regimen 1);Tremelimumab (Regimen 2);Sorafenib;Durvalumab (Regimen 1);Durvalumab (Regimen 2)
11 HepaSphere/Quadrasphere Microspheres for Delivery of Doxorubicin for the Treatment of Hepatocellular Cancer Active, not recruiting NCT01387932 Phase 3
12 Treatment Patients With Pulmonary Metastasis of Liver Cancer With Apatinib Combination With TACE: a Clinical Study Not yet recruiting NCT02702323 Phase 2, Phase 3 Apatinib
13 Chronic Thalidomide Administration in Patients Undergoing Chemoembolization for Unresectable Hepatocellular Cancer Unknown status NCT00006198 Phase 2 thalidomide
14 Effects of OXY111A in Primary and Secondary Hepato-Pancreato-Biliary Neoplasm Unknown status NCT02528526 Phase 1, Phase 2 OXY111A
15 Study of Irofulven in Combination With Oxaliplatin in Patients With Advanced Solid Tumors Unknown status NCT00374660 Phase 1, Phase 2 Irofulven + oxaliplatin
16 Combination Chemotherapy and Interferon Alfa-2b in Treating Patients With Nonmetastatic Liver Cancer That Cannot Be Removed by Surgery Unknown status NCT00471484 Phase 2 doxorubicin hydrochloride;fluorouracil;oxaliplatin
17 Combination Chemotherapy and Thalidomide in Treating Younger Patients Undergoing Surgery For Newly Diagnosed Liver Cancer Unknown status NCT00276705 Phase 2 cisplatin;cyclophosphamide;doxorubicin hydrochloride;thalidomide
18 Sorafenib and TRC105 in Hepatocellular Cancer Completed NCT01306058 Phase 1, Phase 2 TRC 105;Sorafenib
19 Lenalidomide for Advanced Hepatocellular Cancer:A Phase II Trial Completed NCT00717756 Phase 2 lenalidomide
20 Antiangiogenic Treatment of Hepatocellular Cancer With Bevacizumab and RAD001 Completed NCT00775073 Phase 2 Everolimus, Bevacizumab
21 Study of IMC-1121B (Ramucirumab) in Participants With Liver Cancer Who Have Not Previously Been Treated With Chemotherapy Completed NCT00627042 Phase 2
22 A Study of the Effectiveness and Safety of AMG 386 and Sorafenib to Treat Advanced or Inoperable Hepatocellular Cancer Completed NCT00872014 Phase 2 AMG 386;AMG 386;Sorafenib
23 Cancer Stem Cells Vaccine Therapy in Treating Hepatocellular Cancer Patients Completed NCT02089919 Phase 1, Phase 2
24 A Phase II Open Label Study of BMS-582664 in Locally Advanced or Metastatic Hepatocellular Cancer Completed NCT00355238 Phase 2 brivanib (active)
25 Oxaliplatin in Treating Patients With Liver Cancer Completed NCT00052364 Phase 2 oxaliplatin
26 Bevacizumab and Erlotinib in Treating Patients With Advanced Liver Cancer Completed NCT00365391 Phase 2 erlotinib hydrochloride
27 Thalidomide Plus Interferon Alfa in Treating Patients With Progressive Liver Cancer That Cannot be Surgically Removed Completed NCT00006006 Phase 2 thalidomide
28 Thalidomide and Chemoembolization With Doxorubicin in Treating Patients With Liver Cancer That Cannot be Removed by Surgery Completed NCT00006016 Phase 2 thalidomide;doxorubicin hydrochloride
29 Bevacizumab in Treating Patients With Unresectable Nonmetastatic Liver Cancer Completed NCT00055692 Phase 2
30 A Study of Individualized Stereotactic Body Radiation Therapy (SBRT) for Intrahepatic Cancer Completed NCT01522937 Phase 2
31 Phase I/II Comparison of Efficacy and Safety of BIBF 1120 and Sorafenib in Patients With Advanced Hepatocellular Carcinoma Completed NCT01004003 Phase 2 Sorafenib;BIBF 1120
32 Palliative Radiotherapy (RT) for Liver Metastases (Mets) and Hepatocellular Carcinoma (HCC)(COLD 4) Completed NCT00923897 Phase 2
33 TRC105 for Liver Cancer That Has Not Responded to Sorafenib Completed NCT01375569 Phase 2 TRC105
34 Gemcitabine and Oxaliplatin for Hepatocellular Carcinoma With Platelet Counts Greater Than 100,000 Per Microliter Completed NCT00250822 Phase 2 Gemcitabine and Oxaliplatin
35 A Study With Tasquinimod Treating Patients With Hepatocellular, Ovarian, Renal Cell and Gastric Cancers Completed NCT01743469 Phase 2 Tasquinimod;Tasquinimod;Tasquinimod;Tasquinimod
36 A Broad Multi-histology Phase II Study of the Multi-Kinase Inhibitor R935788 (Fostamatinib Disodium) in Advanced Colorectal, Non-small Cell Lung, Head and Neck Hepatocellular and Renal Cell Carcinomas, and Pheochromocytoma and Thyroid Tumors (Multi-H... Completed NCT00923481 Phase 2 Fostamatinib disodium
37 Trametinib or Combination Chemotherapy in Treating Patients With Refractory or Advanced Biliary or Gallbladder Cancer or That Cannot Be Removed by Surgery Completed NCT02042443 Phase 2 Capecitabine;Fluorouracil;Leucovorin Calcium;Trametinib
38 Sorafenib Tosylate in Treating Younger Patients With Relapsed or Refractory Rhabdomyosarcoma, Wilms Tumor, Liver Cancer, or Thyroid Cancer Completed NCT01502410 Phase 2 sorafenib tosylate
39 Oxaliplatin in Treating Young Patients With Recurrent Solid Tumors That Have Not Responded to Previous Treatment Completed NCT00091182 Phase 2 oxaliplatin
40 A Study of LY2875358 in Combination With Ramucirumab (LY3009806) in Participants With Advanced Cancer Completed NCT02082210 Phase 1, Phase 2 LY2875358;Ramucirumab
41 A Study of Vitamin C in the Treatment of Liver Cancer to Determine if it is Safe and Effective Completed NCT01754987 Phase 1, Phase 2 Ascorbic Acid + Sorafenib;Sorafenib
42 Isolated Hepatic Perfusion With Melphalan in Treating Patients With Primary Unresectable Liver Cancer or Liver Metastases Completed NCT00019786 Phase 2 isolated perfusion;melphalan
43 A Phase 2b Study of Modified Vaccinia Virus to Treat Patients Advanced Liver Cancer Who Failed Sorafenib Completed NCT01387555 Phase 2
44 Sorafenib Induced Autophagy Using Hydroxychloroquine in Hepatocellular Cancer Recruiting NCT03037437 Phase 2 Sorafenib (SOR);Hydroxychloroquine (HCQ)
45 Sorafenib Tosylate and Pembrolizumab in Treating Patients With Advanced or Metastatic Liver Cancer Recruiting NCT03211416 Phase 1, Phase 2 Sorafenib Tosylate
46 Transarterial Chemoembolization in Combination With Nivolumab Performed for Intermediate Stage Hepatocellular Carcinoma Recruiting NCT03572582 Phase 2 Nivolumab;TACE
47 Phase I/II, Study of Selective Inhibitor of Nuclear Export (SINE) Selinexor (KPT-330) + Sorafenib in Acute Myeloid Leukemia Recruiting NCT02530476 Phase 1, Phase 2 Selinexor;Sorafenib
48 Pravastatin Intervention to Delay Hepatocellular Carcinoma Recurrence Recruiting NCT03219372 Phase 2 Pravastatin Pill;Placebo Oral Tablet
49 LC Bead LUMI Radio-Opaque Embolic Beads to Detect and Characterize the Vascularity of Hepatic Tumors During Treatment With Transarterial Embolization (TAE) Alone or Combined With Thermal Ablation Recruiting NCT02649868 Phase 2
50 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

Search NIH Clinical Center for Childhood Hepatocellular Carcinoma

Genetic Tests for Childhood Hepatocellular Carcinoma

Genetic tests related to Childhood Hepatocellular Carcinoma:

# Genetic test Affiliating Genes
1 Childhood Hepatocellular Carcinoma 29

Anatomical Context for Childhood Hepatocellular Carcinoma

MalaCards organs/tissues related to Childhood Hepatocellular Carcinoma:

41
Liver, Eye, Skin, T Cells, Bone, Thyroid, Bone Marrow

Publications for Childhood Hepatocellular Carcinoma

Articles related to Childhood Hepatocellular Carcinoma:

(show all 12)
# Title Authors Year
1
Distinct set of chromosomal aberrations in childhood hepatocellular carcinoma is correlated to hepatitis B virus infection. ( 26837720 )
2016
2
Childhood hepatocellular carcinoma: a clinicopathological study of 12 cases with special reference to EpCAM. ( 24138022 )
2014
3
Virchows node: rare presentation of childhood hepatocellular carcinoma. ( 15758545 )
2005
4
Characterization of integration patterns and flanking cellular sequences of hepatitis B virus in childhood hepatocellular carcinomas. ( 12376959 )
2002
5
Adult type vs. Childhood hepatocellular carcinoma--are they the same or different lesions? Biology, natural history, prognosis, and treatment. ( 12228910 )
2002
6
Somatic mutations in the kinase domain of the Met/hepatocyte growth factor receptor gene in childhood hepatocellular carcinomas. ( 9927037 )
1999
7
Analysis of integrated hepatitis B virus DNA and flanking cellular sequences in a childhood hepatocellular carcinoma. ( 8006642 )
1994
8
Latent hepatitis B virus infection in childhood hepatocellular carcinoma. Analysis by polymerase chain reaction. ( 1315210 )
1992
9
Childhood hepatocellular carcinoma and hepatoblastoma: integrated sonography and dynamic CT. ( 1667465 )
1991
10
Maternal transmission of hepatitis B virus in childhood hepatocellular carcinoma. ( 2553245 )
1989
11
Hepatitis B related childhood hepatocellular carcinoma. Childhood hepatic malignancies. ( 3036330 )
1987
12
Childhood hepatocellular carcinoma develops exclusively in hepatitis B surface antigen carriers in three decades in Taiwan. Report of 51 cases strongly associated with rapid development of liver cirrhosis. ( 2828461 )
1987

Variations for Childhood Hepatocellular Carcinoma

ClinVar genetic disease variations for Childhood Hepatocellular Carcinoma:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MET NM_001127500.2(MET): c.3572C> T (p.Thr1191Ile) single nucleotide variant Pathogenic rs121913675 GRCh37 Chromosome 7, 116419007: 116419007
2 MET NM_001127500.2(MET): c.3572C> T (p.Thr1191Ile) single nucleotide variant Pathogenic rs121913675 GRCh38 Chromosome 7, 116778953: 116778953
3 MET NM_001127500.2(MET): c.3804G> A (p.Met1268Ile) single nucleotide variant Pathogenic/Likely pathogenic rs121913676 GRCh37 Chromosome 7, 116423475: 116423475
4 MET NM_001127500.2(MET): c.3804G> A (p.Met1268Ile) single nucleotide variant Pathogenic/Likely pathogenic rs121913676 GRCh38 Chromosome 7, 116783421: 116783421
5 MET NM_001127500.2(MET): c.3785A> G (p.Lys1262Arg) single nucleotide variant Pathogenic rs121913677 GRCh37 Chromosome 7, 116423456: 116423456
6 MET NM_001127500.2(MET): c.3785A> G (p.Lys1262Arg) single nucleotide variant Pathogenic rs121913677 GRCh38 Chromosome 7, 116783402: 116783402

Cosmic variations for Childhood Hepatocellular Carcinoma:

9
(show top 50) (show all 3373)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM1626018 ZXDB liver,NS,carcinoma,hepatocellular carcinoma c.1308C>A p.D436E 23:57593356-57593356 36
2 COSM1615665 ZSWIM1 liver,NS,carcinoma,hepatocellular carcinoma c.1399A>C p.S467R 20:45883991-45883991 36
3 COSM1602238 ZSCAN20 liver,NS,carcinoma,hepatocellular carcinoma c.2314G>T p.G772W 1:33494658-33494658 36
4 COSM6951673 ZRSR2 liver,NS,carcinoma,hepatocellular carcinoma c.304G>T p.E102* 23:15803788-15803788 36
5 COSM1616325 ZNRF3 liver,NS,carcinoma,hepatocellular carcinoma c.859A>G p.M287V 22:29049340-29049340 36
6 COSM3707828 ZNFX1 liver,NS,carcinoma,hepatocellular carcinoma c.2580G>A p.L860L 20:49257501-49257501 36
7 COSM3707827 ZNFX1 liver,NS,carcinoma,hepatocellular carcinoma c.2580G>A p.L860L 20:49257501-49257501 36
8 COSM1623051 ZNF853 liver,NS,carcinoma,hepatocellular carcinoma c.1610G>T p.G537V 7:6622601-6622601 36
9 COSM1612127 ZNF829 liver,NS,carcinoma,hepatocellular carcinoma c.829T>A p.F277I 19:36891962-36891962 36
10 COSM1618451 ZNF827 liver,NS,carcinoma,hepatocellular carcinoma c.1741C>T p.L581L 4:145885684-145885684 36
11 COSM1611545 ZNF653 liver,NS,carcinoma,hepatocellular carcinoma c.1553A>C p.H518P 19:11485673-11485673 36
12 COSM1612685 ZNF615 liver,NS,carcinoma,hepatocellular carcinoma c.141G>A p.V47V 19:52002156-52002156 36
13 COSM1612018 ZNF536 liver,NS,carcinoma,hepatocellular carcinoma c.3900G>T p.K1300N 19:30557161-30557161 36
14 COSM1618219 ZNF518B liver,NS,carcinoma,hepatocellular carcinoma c.1624G>T p.E542* 4:10444705-10444705 36
15 COSM1624399 ZNF462 liver,NS,carcinoma,hepatocellular carcinoma c.6715G>T p.V2239L 9:106974156-106974156 36
16 COSM1609798 ZNF276 liver,NS,carcinoma,hepatocellular carcinoma c.1219C>G p.L407V 16:89734008-89734008 36
17 COSM1605856 ZNF26 liver,NS,carcinoma,hepatocellular carcinoma c.1010C>T p.T337I 12:133010889-133010889 36
18 COSM1602404 ZMYND12 liver,NS,carcinoma,hepatocellular carcinoma c.425-1G>T p.? 1:42440026-42440026 36
19 COSM1607880 ZFYVE26 liver,NS,carcinoma,hepatocellular carcinoma c.663C>A p.A221A 14:67807621-67807621 36
20 COSM3661787 ZFR liver,NS,carcinoma,hepatocellular carcinoma c.2882C>T p.P961L 5:32364229-32364229 36
21 COSM1270878 ZFP36L2 liver,NS,carcinoma,hepatocellular carcinoma c.910T>G p.S304A 2:43224894-43224894 36
22 COSM1612900 ZFP28 liver,NS,carcinoma,hepatocellular carcinoma c.1865G>A p.C622Y 19:56554650-56554650 36
23 COSM3663890 ZFHX4 liver,NS,carcinoma,hepatocellular carcinoma c.10601C>G p.S3534C 8:76864315-76864315 36
24 COSM6969923 ZFHX3 liver,NS,carcinoma,hepatocellular carcinoma c.10852C>A p.P3618T 16:72787424-72787424 36
25 COSM3717069 ZFHX3 liver,NS,carcinoma,hepatocellular carcinoma c.8342A>G p.Q2781R 16:72794340-72794340 36
26 COSM6219678 ZFHX3 liver,NS,carcinoma,hepatocellular carcinoma c.9997C>T p.Q3333* 16:72788279-72788279 36
27 COSM1613453 ZEB2 liver,NS,carcinoma,hepatocellular carcinoma c.1141A>G p.M381V 2:144400046-144400046 36
28 COSM3717124 ZCCHC14 liver,NS,carcinoma,hepatocellular carcinoma c.71A>T p.Q24L 16:87491757-87491757 36
29 COSM1608898 ZC3H7A liver,NS,carcinoma,hepatocellular carcinoma c.2866A>G p.N956D 16:11751367-11751367 36
30 COSM3705381 ZBTB41 liver,NS,carcinoma,hepatocellular carcinoma c.1700G>A p.R567K 1:197178489-197178489 36
31 COSM1601838 ZBTB40 liver,NS,carcinoma,hepatocellular carcinoma c.3339C>A p.F1113L 1:22524258-22524258 36
32 COSM1610770 ZBTB4 liver,NS,carcinoma,hepatocellular carcinoma c.454G>T p.G152C 17:7466348-7466348 36
33 COSM1601260 ZBTB37 liver,NS,carcinoma,hepatocellular carcinoma c.620G>C p.S207T 1:173870845-173870845 36
34 COSM1624206 ZBTB10 liver,NS,carcinoma,hepatocellular carcinoma c.2136A>G p.T712T 8:80518852-80518852 36
35 COSM1624207 ZBTB10 liver,NS,carcinoma,hepatocellular carcinoma c.2311A>G p.I771V 8:80519295-80519295 36
36 COSM1616586 ZBED4 liver,NS,carcinoma,hepatocellular carcinoma c.2225A>C p.E742A 22:49885887-49885887 36
37 COSM1624117 YTHDF3 liver,NS,carcinoma,hepatocellular carcinoma c.1568A>G p.N523S 8:63187582-63187582 36
38 COSM1603361 YME1L1 liver,NS,carcinoma,hepatocellular carcinoma c.2006A>G p.H669R 10:27116230-27116230 36
39 COSM1617254 YEATS2 liver,NS,carcinoma,hepatocellular carcinoma c.501C>T p.N167N 3:183722100-183722100 36
40 COSM3663693 XPO7 liver,NS,carcinoma,hepatocellular carcinoma c.806A>G p.Y269C 8:21977812-21977812 36
41 COSM1609152 XPO6 liver,NS,carcinoma,hepatocellular carcinoma c.882C>T p.G294G 16:28156289-28156289 36
42 COSM6957749 XPO1 liver,NS,carcinoma,hepatocellular carcinoma c.301+1G>C p.? 2:61522610-61522610 36
43 COSM1624082 XKR4 liver,NS,carcinoma,hepatocellular carcinoma c.1076A>G p.D359G 8:55523350-55523350 36
44 COSM1613650 XIRP2 liver,NS,carcinoma,hepatocellular carcinoma c.9350G>C p.R3117P 2:167250742-167250742 36
45 COSM3660541 XIRP1 liver,NS,carcinoma,hepatocellular carcinoma c.142C>A p.Q48K 3:39189304-39189304 36
46 COSM1625463 XIAP liver,NS,carcinoma,hepatocellular carcinoma c.493G>T p.A165S 23:123886155-123886155 36
47 COSM3663909 WWP1 liver,NS,carcinoma,hepatocellular carcinoma c.210-2A>G p.? 8:86381503-86381503 36
48 COSM1625309 WWC3 liver,NS,carcinoma,hepatocellular carcinoma c.1121C>A p.S374Y 23:10117180-10117180 36
49 COSM1621161 WTAP liver,NS,carcinoma,hepatocellular carcinoma c.283C>T p.Q95* 6:159748200-159748200 36
50 COSM6909096 WT1 liver,NS,carcinoma,hepatocellular carcinoma c.1019T>G p.L340* 11:32396283-32396283 36

Expression for Childhood Hepatocellular Carcinoma

Search GEO for disease gene expression data for Childhood Hepatocellular Carcinoma.

Pathways for Childhood Hepatocellular Carcinoma

GO Terms for Childhood Hepatocellular Carcinoma

Cellular components related to Childhood Hepatocellular Carcinoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 basolateral plasma membrane GO:0016323 9.16 CTNNB1 EPCAM
2 bicellular tight junction GO:0005923 8.96 CTNNB1 EPCAM
3 lateral plasma membrane GO:0016328 8.62 CTNNB1 EPCAM

Biological processes related to Childhood Hepatocellular Carcinoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.33 CTNNB1 EPCAM MET
2 positive regulation of MAPK cascade GO:0043410 9.26 CTNNB1 MET
3 cell-cell adhesion GO:0098609 8.96 CTNNB1 EPCAM
4 entry of bacterium into host cell GO:0035635 8.62 CTNNB1 MET

Molecular functions related to Childhood Hepatocellular Carcinoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein phosphatase binding GO:0019903 8.62 CTNNB1 MET

Sources for Childhood Hepatocellular Carcinoma

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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