MCID: BP1002
MIFTS: 29

Bap1 Tumor Predisposition Syndrome

Categories: Cancer diseases, Immune diseases, Rare diseases, Skin diseases

Aliases & Classifications for Bap1 Tumor Predisposition Syndrome

MalaCards integrated aliases for Bap1 Tumor Predisposition Syndrome:

Name: Bap1 Tumor Predisposition Syndrome 25 54 26
Tumor Susceptibility Linked to Germline Bap1 Mutations 54 30 6
Bap1 Cancer Syndrome 25 30 6
Common Syndrome 25 54 26
Bap1-Tpds 25 54 26
Cutaneous/ocular Melanoma, Atypical Melanocytic Proliferations, and Other Internal Neoplasms 54 26
Bap1-Related Tumor Predisposition Syndrome 54 26
Tumor Predisposition Syndrome 54 74
Cutaneous/ocular Melanoma, Atypical Melanocytic Proliferations,other Internal Neoplasms 25

Characteristics:

GeneReviews:

25
Penetrance The penetrance of the bap1-tpds appears to be high based on the published literature. in their review rai et al [2016] found that 148/174 (85%) individuals reported with a heterozygous germline bap1 pathogenic variant had a cancer diagnosis. however, ascertainment biases in favor of both testing and reporting affected versus unaffected individuals may have inflated this figure. for example, in more than half of the reported families only the proband had been tested. given these biases, an accurate estimate of penetrance cannot be determined at this time...

Classifications:



External Ids:

ICD10 34 D83.9
UMLS 74 C3280492

Summaries for Bap1 Tumor Predisposition Syndrome

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 289539Disease definitionBAP1-related tumor predisposition syndrome (TPDS) is an inheritedcancer-predisposing syndrome, associated with germline mutations in BAP1 tumor suppressor gene. The most commonly observed cancer types include uveal melanoma, malignant mesothelioma, renal cell carcinoma, lung, ovarian, pancreatic, breast cancer and meningioma, with variable age of onset. Common cutaneous manifestations include malignant melanoma, basal cell carcinoma and benign melanocytic BAP1-mutated atypical intradermal tumors (MBAIT) presenting as multiple skin-coloured to reddish-brown dome-shaped to pedunculated, well-circumscribed papules with an average size of 5 mm, histologically predominantly composed of epithelioid melanocytes with abundant amphophilic cytoplasm, prominent nucleoli and large, vesicular nuclei that vary substantially in size and shape.Visit the Orphanet disease page for more resources.

MalaCards based summary : Bap1 Tumor Predisposition Syndrome, also known as tumor susceptibility linked to germline bap1 mutations, is related to rhabdoid tumor predisposition syndrome 1 and rhabdoid tumor predisposition syndrome 2. An important gene associated with Bap1 Tumor Predisposition Syndrome is BAP1 (BRCA1 Associated Protein 1). The drugs Dopamine and Methylphenidate have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and lung.

Genetics Home Reference : 26 BAP1 tumor predisposition syndrome is an inherited disorder that increases the risk of a variety of cancerous (malignant) and noncancerous (benign) tumors, most commonly certain types of tumors that occur in the skin, eyes, kidneys, and the tissue that lines the chest, abdomen, and the outer surface of the internal organs (the mesothelium). Affected individuals can develop one or more types of tumor, and affected members of the same family can have different types.

GeneReviews: NBK390611

Related Diseases for Bap1 Tumor Predisposition Syndrome

Graphical network of the top 20 diseases related to Bap1 Tumor Predisposition Syndrome:



Diseases related to Bap1 Tumor Predisposition Syndrome

Symptoms & Phenotypes for Bap1 Tumor Predisposition Syndrome

Drugs & Therapeutics for Bap1 Tumor Predisposition Syndrome

Drugs for Bap1 Tumor Predisposition Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 40)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 2 62-31-7, 51-61-6 681
2
Methylphenidate Approved, Investigational Phase 2 113-45-1 4158
3
Citalopram Approved Phase 2 59729-33-8 2771
4
Esmolol Approved Phase 2 103598-03-4, 81147-92-4 59768
5 Parasympatholytics Phase 2
6 Dopamine Agents Phase 2
7 Antidepressive Agents Phase 2,Not Applicable
8 Neurotransmitter Uptake Inhibitors Phase 2
9 Peripheral Nervous System Agents Phase 2
10 Antiparkinson Agents Phase 2
11 Cholinergic Agents Phase 2
12 Cholinergic Antagonists Phase 2
13 Autonomic Agents Phase 2
14 Antidepressive Agents, Second-Generation Phase 2
15 Psychotropic Drugs Phase 2,Not Applicable
16 Neurotransmitter Agents Phase 2
17 Serotonin Agents Phase 2
18 Serotonin Uptake Inhibitors Phase 2
19 Dopamine Uptake Inhibitors Phase 2
20 Muscarinic Antagonists Phase 2
21 Central Nervous System Stimulants Phase 2
22 Adrenergic Agents Phase 2
23 Adrenergic beta-1 Receptor Antagonists Phase 2
24 Adrenergic beta-Antagonists Phase 2
25 Adrenergic Antagonists Phase 2
26 Olive Phase 2
27 Epidiolex Phase 2
28
Serotonin Investigational, Nutraceutical Phase 2 50-67-9 5202
29
Dehydroepiandrosterone Approved, Investigational, Nutraceutical Not Applicable 53-43-0 9860744
30 Immunologic Factors Not Applicable
31 DHEA (Dehydroepiandrosterone) Not Applicable
32 Adjuvants, Immunologic Not Applicable
33 Androgens Not Applicable
34 Natriuretic Agents
35 Natriuretic Peptide, C-Type
36 Endorphins Not Applicable
37 Anti-Bacterial Agents
38 Anti-Infective Agents
39 Antibiotics, Antitubercular
40 Antitubercular Agents

Interventional clinical trials:

(show all 18)
# Name Status NCT ID Phase Drugs
1 A Controlled Trial of Serotonin Reuptake Inhibitors Added to Stimulant Medication in Youth With Severe Mood Dysregulation Completed NCT00794040 Phase 2 Citalopram;Methylphenidate
2 Esmolol to Control Adrenergic Storm in Septic Shock- ROLL-IN 2 Recruiting NCT03208257 Phase 2 Esmolol
3 The Effect of Cannabis on Dementia Related Agitation and Aggression Recruiting NCT03328676 Phase 2 Cannabis;Placebo oil
4 Dehydroepiandrosterone (DHEA) Treatment in Women and Men Experiencing Hypoactive Sexual Desire Disorder Unknown status NCT00916396 Not Applicable Dehydroepiandrosterone;placebo
5 Exercise Training Effects in Patients With Heart Failure Unknown status NCT01071629 Not Applicable
6 Effects of a Moisturizing Product on Dry Eye and Skin Completed NCT02683382 Not Applicable
7 A Study to Assess Benign Joint Hypermobility Syndrome in Children With a History of Wheezing or Asthma Completed NCT02163096
8 C-Type Natriuretic Peptide and Achondroplasia Completed NCT01541306
9 Brain Mechanisms Underlying Reading Improvement in Central Alexia Completed NCT02062619 Not Applicable
10 Natural History and Biospecimen Acquisition for Children and Adults With Rare Solid Tumors Recruiting NCT03739827
11 Tumor and Development (TED) Recruiting NCT01915797
12 Metabolism, Muscle Function and Psychological Factors in Fibromyalgia Recruiting NCT03300635 Not Applicable
13 Transcranial Magnetic Stimulation and Hyperbaric Chamber for Women Fibromyalgia Recruiting NCT03801109 Not Applicable
14 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
15 Validating Pain Scales in Children and Young Adults Recruiting NCT01639950
16 Effect of Emergency Department Care Reorganization on Door-to-antibiotic Times for Sepsis (LDS SWARM) Active, not recruiting NCT03226366
17 Can Acupuncture Treat Post-stroke Depression? Active, not recruiting NCT02644161 Not Applicable Antidepressant
18 Metabolic and Structural Characterization of Hub's Vulnerability in Neurological Diseases Assessed by Ultra High Field Structural and Functional MRI Not yet recruiting NCT03039166 Not Applicable

Search NIH Clinical Center for Bap1 Tumor Predisposition Syndrome

Genetic Tests for Bap1 Tumor Predisposition Syndrome

Genetic tests related to Bap1 Tumor Predisposition Syndrome:

# Genetic test Affiliating Genes
1 Tumor Susceptibility Linked to Germline Bap1 Mutations 30 BAP1
2 Bap1 Cancer Syndrome 30

Anatomical Context for Bap1 Tumor Predisposition Syndrome

MalaCards organs/tissues related to Bap1 Tumor Predisposition Syndrome:

42
Skin, Eye, Lung, Kidney, Breast, Brain, Heart

Publications for Bap1 Tumor Predisposition Syndrome

Articles related to Bap1 Tumor Predisposition Syndrome:

# Title Authors Year
1
Malignant Peripheral Nerve Sheath Tumor in a Patient With BAP1 Tumor Predisposition Syndrome. ( 29061454 )
2018
2
Analysis of the Exome Aggregation Consortium (ExAC) database suggests that the BAP1-tumor predisposition syndrome is underreported in cancer patients. ( 29761599 )
2018
3
Basal cell carcinomas developing independently from BAP1-tumor predisposition syndrome in a patient with bilateral uveal melanoma: Diagnostic challenges to identify patients with BAP1-TPDS. ( 30578689 )
2018
4
GROWTH OF PRESUMED CHOROIDAL NEVUS INTO MELANOMA OVER 4 YEARS IN BAP1 TUMOR PREDISPOSITION SYNDROME. ( 29994997 )
2018
5
Comprehensive review of BAP1 tumor predisposition syndrome with report of two new cases. ( 26096145 )
2015
6
The Importance of Multidisciplinary Approach in Early Detection of BAP1 Tumor Predisposition Syndrome: Clinical Management and Risk Assessment. ( 24855403 )
2014
7
BAP1 Tumor Predisposition Syndrome ( 27748099 )
1993

Variations for Bap1 Tumor Predisposition Syndrome

ClinVar genetic disease variations for Bap1 Tumor Predisposition Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 BAP1 NM_004656.3(BAP1): c.1717delC (p.Leu573Trpfs) deletion Pathogenic rs869025212 GRCh37 Chromosome 3, 52437444: 52437444
2 BAP1 NM_004656.3(BAP1): c.1717delC (p.Leu573Trpfs) deletion Pathogenic rs869025212 GRCh38 Chromosome 3, 52403428: 52403428

Cosmic variations for Bap1 Tumor Predisposition Syndrome:

9 (show top 50) (show all 1185)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM3691166 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.2084C>T p.P695L 16:72958062-72958062 0
2 COSM6926860 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.5825G>A p.G1942E 16:72796857-72796857 0
3 COSM6926861 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.1655C>T p.S552F 16:72958491-72958491 0
4 COSM6969201 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.11050G>A p.D3684N 16:72787226-72787226 0
5 COSM6953811 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.1991C>T p.S664F 16:72958155-72958155 0
6 COSM6926862 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.1261G>A p.G421R 16:72958885-72958885 0
7 COSM6936924 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.10847C>T p.S3616F 16:72787429-72787429 0
8 COSM6982918 YES1 skin,eye,carcinoma,NS c.851G>A p.G284E 18:743289-743289 0
9 COSM5611208 YAP1 skin,chest,malignant melanoma,NS c.1205G>A p.G402E 11:102229792-102229792 0
10 COSM212945 XPO1 skin,NS,carcinoma,basal cell carcinoma c.782G>A p.R261Q 2:61496985-61496985 0
11 COSM6941466 XIAP kidney,NS,carcinoma,renal cell carcinoma unclassified c.563G>C p.G188A 23:123886225-123886225 0
12 COSM14312 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.353T>C p.L118P 3:10146526-10146526 0
13 COSM14380 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.548C>A p.S183* 3:10149871-10149871 0
14 COSM18350 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.256C>T p.P86S 3:10142103-10142103 0
15 COSM17957 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.292T>G p.Y98D 3:10142139-10142139 0
16 COSM14382 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.245G>C p.R82P 3:10142092-10142092 0
17 COSM14305 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.266T>A p.L89H 3:10142113-10142113 0
18 COSM25676 VHL kidney,NS,carcinoma,renal cell c.485G>T p.C162F 3:10149808-10149808 0
19 COSM17875 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.234T>G p.N78K 3:10142081-10142081 0
20 COSM17983 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.500G>A p.R167Q 3:10149823-10149823 0
21 COSM18097 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.482G>A p.R161Q 3:10149805-10149805 0
22 COSM14425 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.341-2A>T p.? 3:10146512-10146512 0
23 COSM17872 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.217C>T p.Q73* 3:10142064-10142064 0
24 COSM27269 UMPS kidney,NS,carcinoma,renal cell c.528G>A p.L176L 3:124737785-124737785 0
25 COSM7349320 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.1119+1G>T p.? 16:2060814-2060814 0
26 COSM6936922 TSC2 skin,NS,carcinoma,basal cell carcinoma c.2060C>T p.S687F 16:2071897-2071897 0
27 COSM7349613 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.976-1G>A p.? 16:2060669-2060669 0
28 COSM7349594 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.2356-1G>C p.? 16:2074199-2074199 0
29 COSM7349602 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.1636G>T p.E546* 16:2065555-2065555 0
30 COSM7349619 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.390C>G p.Y130* 16:2054349-2054349 0
31 COSM6926855 TSC2 skin,NS,carcinoma,basal cell carcinoma c.679T>A p.C227S 16:2056674-2056674 0
32 COSM7349321 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.1600-1G>T p.? 16:2065518-2065518 0
33 COSM7349621 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.774+1G>A p.? 16:2056770-2056770 0
34 COSM7349639 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.731G>T p.C244F 16:2056726-2056726 0
35 COSM7349636 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.1189C>T p.Q397* 16:2061940-2061940 0
36 COSM6957851 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.541G>A p.V181M 16:2055461-2055461 0
37 COSM6953809 TSC2 skin,NS,carcinoma,basal cell carcinoma c.869C>T p.P290L 16:2058767-2058767 0
38 COSM7349616 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.1717-1G>C p.? 16:2070455-2070455 0
39 COSM1272079 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.3412C>T p.R1138* 16:2080179-2080179 0
40 COSM6943738 TSC2 kidney,NS,carcinoma,renal cell carcinoma unclassified c.975+1G>T p.? 16:2058874-2058874 0
41 COSM7349331 TSC1 kidney,NS,carcinoma,renal cell carcinoma unclassified c.1276G>T p.D426Y 9:132907358-132907358 0
42 COSM6942356 TSC1 kidney,NS,carcinoma,renal cell carcinoma unclassified c.2287C>T p.Q763* 9:132902709-132902709 0
43 COSM6963117 TSC1 kidney,NS,carcinoma,renal cell carcinoma unclassified c.1001C>A p.S334* 9:132911481-132911481 0
44 COSM4736805 TSC1 skin,eye,carcinoma,NS c.2065C>T p.R689C 9:132903794-132903794 0
45 COSM29770 TSC1 kidney,NS,carcinoma,renal cell carcinoma unclassified c.508+1G>T p.? 9:132923347-132923347 0
46 COSM7349328 TSC1 kidney,NS,carcinoma,renal cell carcinoma unclassified c.1835T>A p.L612* 9:132905743-132905743 0
47 COSM107494 TRRAP skin,chest,malignant melanoma,NS c.2165C>T p.S722F 7:98912179-98912179 0
48 COSM30474 TRIO kidney,NS,carcinoma,renal cell c.9008A>G p.N3003S 5:14508136-14508136 0
49 COSM6912933 TRAF7 skin,NS,carcinoma,basal cell carcinoma c.1802C>T p.T601I 16:2176104-2176104 0
50 COSM6971614 TRAF7 skin,eye,carcinoma,NS c.349G>A p.E117K 16:2171264-2171264 0

Expression for Bap1 Tumor Predisposition Syndrome

Search GEO for disease gene expression data for Bap1 Tumor Predisposition Syndrome.

Pathways for Bap1 Tumor Predisposition Syndrome

GO Terms for Bap1 Tumor Predisposition Syndrome

Sources for Bap1 Tumor Predisposition Syndrome

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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