MCID: BP1002
MIFTS: 31

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
Common Syndrome 25 54 26 30
Tumor Susceptibility Linked to Germline Bap1 Mutations 54 30 6
Bap1 Cancer Syndrome 25 30 6
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 common syndrome, 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 Citalopram 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
Citalopram Approved Phase 2 59729-33-8 2771
3
Methylphenidate Approved, Investigational Phase 2 113-45-1 4158
4
Esmolol Approved Phase 2 103598-03-4, 81147-92-4 59768
5 Central Nervous System Stimulants Phase 2
6 Dopamine Uptake Inhibitors Phase 2
7 Psychotropic Drugs Phase 2,Not Applicable
8 Parasympatholytics Phase 2
9 Serotonin Uptake Inhibitors Phase 2
10 Antidepressive Agents, Second-Generation Phase 2
11 Serotonin Agents Phase 2
12 Dopamine Agents Phase 2
13 Muscarinic Antagonists Phase 2
14 Antiparkinson Agents Phase 2
15 Neurotransmitter Agents Phase 2
16 Cholinergic Antagonists Phase 2
17 Antidepressive Agents Phase 2,Not Applicable
18 Cholinergic Agents Phase 2
19 Autonomic Agents Phase 2
20 Peripheral Nervous System Agents Phase 2
21 Neurotransmitter Uptake Inhibitors Phase 2
22 Adrenergic Antagonists Phase 2
23 Adrenergic Agents Phase 2
24 Adrenergic beta-Antagonists Phase 2
25 Adrenergic beta-1 Receptor Antagonists Phase 2
26 Epidiolex Phase 2
27 Olive Phase 2
28
Serotonin Investigational, Nutraceutical Phase 2 50-67-9 5202
29
Dehydroepiandrosterone Approved, Investigational, Nutraceutical Not Applicable 53-43-0 9860744
30 Adjuvants, Immunologic Not Applicable
31 Immunologic Factors Not Applicable
32 Androgens Not Applicable
33 DHEA (Dehydroepiandrosterone) Not Applicable
34 Natriuretic Peptide, C-Type
35 Natriuretic Agents
36 Endorphins Not Applicable
37 Anti-Bacterial Agents
38 Antibiotics, Antitubercular
39 Antitubercular Agents
40 Anti-Infective 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 Add-on citalopram following optimized methylphenidate;Add-on placebo following optimized 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 Can Acupuncture Treat Post-stroke Depression? Completed NCT02644161 Not Applicable Antidepressant
11 Natural History and Biospecimen Acquisition for Children and Adults With Rare Solid Tumors Recruiting NCT03739827
12 Tumor and Development (TED) Recruiting NCT01915797
13 Metabolism, Muscle Function and Psychological Factors in Fibromyalgia Recruiting NCT03300635 Not Applicable
14 Transcranial Magnetic Stimulation and Hyperbaric Chamber for Women Fibromyalgia Recruiting NCT03801109 Not Applicable
15 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
16 Validating Pain Scales in Children and Young Adults Recruiting NCT01639950
17 Effect of Emergency Department Care Reorganization on Door-to-antibiotic Times for Sepsis (LDS SWARM) Active, not recruiting NCT03226366
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
3 Common 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:

(show all 18)
# Title Authors Year
1
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 )
2019
2
Malignant Peripheral Nerve Sheath Tumor in a Patient With BAP1 Tumor Predisposition Syndrome. ( 29061454 )
2018
3
GROWTH OF PRESUMED CHOROIDAL NEVUS INTO MELANOMA OVER 4 YEARS IN BAP1 TUMOR PREDISPOSITION SYNDROME. ( 29994997 )
2018
4
Analysis of the exome aggregation consortium (ExAC) database suggests that the BAP1-tumor predisposition syndrome is underreported in cancer patients. ( 29761599 )
2018
5
Temporoparietal Frey Syndrome: An Uncommon Variant of a Common Syndrome. ( 30570147 )
2018
6
Comprehensive review of BAP1 tumor predisposition syndrome with report of two new cases. ( 26096145 )
2016
7
The Importance of Multidisciplinary Approach in Early Detection of BAP1 Tumor Predisposition Syndrome: Clinical Management and Risk Assessment. ( 24855403 )
2014
8
Persistent inflammation and immunosuppression: a common syndrome and new horizon for surgical intensive care. ( 22695412 )
2012
9
Delayed presentation of splenic injury: still a common syndrome. ( 12222914 )
2002
10
Infectious mononucleosis. Complexities of a common syndrome. ( 10887454 )
2000
11
Buggery in childhood--a common syndrome of child abuse. ( 2429126 )
1986
12
Seminiferous tubule hypercurvature: A newly recognised common syndrome of human male infertility. ( 84205 )
1979
13
Chalasia, peptic esophagitis, and hiatal hernia. A common syndrome in patients with central nervous system disease. ( 5119882 )
1971
14
THE IMMOBILE MENISCUS: A COMMON SYNDROME IN MIDDLE AGE. ( 14186288 )
1964
15
Vascular neck pain-a common syndrome seldom recognized. ( 14418506 )
1960
16
Mild depression; a common syndrome often unrecognized. ( 13465523 )
1957
17
Spinal nerve root pain (radiculitis) simulating coronary occlusion; a common syndrome. ( 18919650 )
1948
18
Megaloblastic anemia in infancy; a common syndrome responding specifically to folic acid therapy. ( 21027135 )
1946

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 1194)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM6926860 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.5825G>A p.G1942E 16:72796857-72796857 0
2 COSM6969201 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.11050G>A p.D3684N 16:72787226-72787226 0
3 COSM6953811 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.1991C>T p.S664F 16:72958155-72958155 0
4 COSM6926862 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.1261G>A p.G421R 16:72958885-72958885 0
5 COSM6936924 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.10847C>T p.S3616F 16:72787429-72787429 0
6 COSM3691166 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.2084C>T p.P695L 16:72958062-72958062 0
7 COSM6926861 ZFHX3 skin,NS,carcinoma,basal cell carcinoma c.1655C>T p.S552F 16:72958491-72958491 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 COSM14305 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.266T>A p.L89H 3:10142113-10142113 0
17 COSM14382 VHL kidney,NS,carcinoma,renal cell carcinoma unclassified c.245G>C p.R82P 3:10142092-10142092 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 COSM7349328 TSC1 kidney,NS,carcinoma,renal cell carcinoma unclassified c.1835T>A p.L612* 9:132905743-132905743 0
42 COSM7349331 TSC1 kidney,NS,carcinoma,renal cell carcinoma unclassified c.1276G>T p.D426Y 9:132907358-132907358 0
43 COSM6942356 TSC1 kidney,NS,carcinoma,renal cell carcinoma unclassified c.2287C>T p.Q763* 9:132902709-132902709 0
44 COSM6963117 TSC1 kidney,NS,carcinoma,renal cell carcinoma unclassified c.1001C>A p.S334* 9:132911481-132911481 0
45 COSM4736805 TSC1 skin,eye,carcinoma,NS c.2065C>T p.R689C 9:132903794-132903794 0
46 COSM29770 TSC1 kidney,NS,carcinoma,renal cell carcinoma unclassified c.508+1G>T p.? 9:132923347-132923347 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
Content
Loading form....