MCID: BLR027
MIFTS: 41

Blue Rubber Bleb Nevus

Categories: Blood diseases, Cardiovascular diseases, Fetal diseases, Gastrointestinal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Blue Rubber Bleb Nevus

MalaCards integrated aliases for Blue Rubber Bleb Nevus:

Name: Blue Rubber Bleb Nevus 58 77 54 60 30 6
Bean Syndrome 58 54 60
Blue Rubber Bleb Nevus Syndrome 54
Nevus, Blue Rubber Bleb 41
Brbns 54
Brbn 60

Characteristics:

Orphanet epidemiological data:

60
blue rubber bleb nevus
Inheritance: Autosomal dominant; Age of onset: Childhood; Age of death: any age;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
usually sporadic, few cases described with autosomal dominant inheritance
presents at birth or early childhood
venous malformations previously referred to as angiomas or hemangiomas


HPO:

33
blue rubber bleb nevus:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Blue Rubber Bleb Nevus

NIH Rare Diseases : 54 Blue rubber bleb nevus syndromeis a condition in which the blood vessels do not develop properly in an area of the skin or other body organ (particularly the intestines).  The malformed blood vessels appear as a spot or lesion called a nevus.  The underlying blood vessel malformations are present from birth even though the nevus may not be visible until later in life. The size, number, location, and severity of these malformations vary from person to person.  Affected areas on the skin can be painful or tender to the touch and may be prone to sweating (hyperhidrosis).  Nevi in the intestines can bleed spontaneously and cause anemia or more serious complications. Other symptoms vary depending on the organ affected. Treatment is tailored to the individual depending on the location and symptoms caused by the affected areas.

MalaCards based summary : Blue Rubber Bleb Nevus, also known as bean syndrome, is related to venous malformations, multiple cutaneous and mucosal and human venous malformation. An important gene associated with Blue Rubber Bleb Nevus is GLMN (Glomulin, FKBP Associated Protein). The drugs Miconazole and Sirolimus have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and liver, and related phenotypes are cavernous hemangioma and arteriovenous malformation

Wikipedia : 77 Blue rubber bleb nevus syndrome is a rare disorder that consists mainly of abnormal blood vessels... more...

Description from OMIM: 112200

Related Diseases for Blue Rubber Bleb Nevus

Graphical network of the top 20 diseases related to Blue Rubber Bleb Nevus:



Diseases related to Blue Rubber Bleb Nevus

Symptoms & Phenotypes for Blue Rubber Bleb Nevus

Human phenotypes related to Blue Rubber Bleb Nevus:

60 33 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cavernous hemangioma 60 33 hallmark (90%) Very frequent (99-80%) HP:0001048
2 arteriovenous malformation 60 33 hallmark (90%) Very frequent (99-80%) HP:0100026
3 visceral angiomatosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0100761
4 skin rash 60 33 hallmark (90%) Very frequent (99-80%) HP:0000988
5 bone pain 60 33 hallmark (90%) Very frequent (99-80%) HP:0002653
6 prolonged bleeding time 60 33 hallmark (90%) Very frequent (99-80%) HP:0003010
7 subcutaneous nodule 60 33 frequent (33%) Frequent (79-30%) HP:0001482
8 abnormality of coagulation 60 33 frequent (33%) Frequent (79-30%) HP:0001928
9 volvulus 60 33 frequent (33%) Frequent (79-30%) HP:0002580
10 intestinal bleeding 60 33 frequent (33%) Frequent (79-30%) HP:0002584
11 microcytic anemia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001935
12 gastrointestinal infarctions 60 33 occasional (7.5%) Occasional (29-5%) HP:0005244
13 pathologic fracture 33 HP:0002756
14 thrombocytopenia 33 HP:0001873
15 abnormality of the mouth 33 HP:0000153
16 iron deficiency anemia 33 HP:0001891
17 abnormality of the vasculature 60 Frequent (79-30%)
18 rectal prolapse 33 HP:0002035
19 hypermelanotic macule 33 HP:0001034
20 abnormality of the respiratory system 33 HP:0002086
21 abnormality of the liver 33 HP:0001392
22 hemangioma 33 HP:0001028
23 intussusception 33 HP:0002576
24 cerebellar medulloblastoma 33 HP:0007129
25 chronic disseminated intravascular coagulation 33 HP:0005520

Symptoms via clinical synopsis from OMIM:

58
Hematology:
thrombocytopenia
iron deficiency anemia
chronic consumption coagulopathy

Head And Neck Mouth:
oral mucosa venous malformations

Respiratory Lung:
pulmonary venous malformations

Skeletal:
coarsened trabeculae
cortical remodeling

Skin Nails Hair Skin:
multiple, red-blue, soft, compressible vascular papules or macules (especially on trunk or upper arms)

Abdomen Gastrointestinal:
rectal prolapse
volvulus
intestinal bleeding
intussusception
intestinal venous malformations
more
Cardiovascular Vascular:
thrombi
phleboliths
low flow state

Abdomen Liver:
hepatic venous malformations

Skeletal Limbs:
limb hypertrophy
limb hypotrophy
pathologic fracture due to focal lytic defects
limb bowing

Neurologic Central Nervous System:
cns venous malformations
cerebellar medulloblastoma (rare)
sinus pericranii (rare)

Clinical features from OMIM:

112200

Drugs & Therapeutics for Blue Rubber Bleb Nevus

Drugs for Blue Rubber Bleb Nevus (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
2
Sirolimus Approved, Investigational Phase 4 53123-88-9 46835353 5284616 6436030
3
Everolimus Approved Phase 4 159351-69-6 70789204 6442177
4 Immunosuppressive Agents Phase 4
5 Antibiotics, Antitubercular Phase 4
6 Anti-Bacterial Agents Phase 4
7 Immunologic Factors Phase 4
8 Antifungal Agents Phase 4
9 Anti-Infective Agents Phase 4

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Efficacy of Rapamycin (Sirolimus) in the Treatment of BRBNS, Hereditary or Sporadic Venous Malformation Recruiting NCT03767660 Phase 4 Rapamycin
2 Registry for Vascular Anomalies Associated With Coagulopathy Recruiting NCT00576888
3 Lymphatic Anomalies Registry Recruiting NCT02399527

Search NIH Clinical Center for Blue Rubber Bleb Nevus

Genetic Tests for Blue Rubber Bleb Nevus

Genetic tests related to Blue Rubber Bleb Nevus:

# Genetic test Affiliating Genes
1 Blue Rubber Bleb Nevus 30

Anatomical Context for Blue Rubber Bleb Nevus

MalaCards organs/tissues related to Blue Rubber Bleb Nevus:

42
Skin, Bone, Liver, Spinal Cord, Colon, Small Intestine, Brain

Publications for Blue Rubber Bleb Nevus

Articles related to Blue Rubber Bleb Nevus:

(show top 50) (show all 239)
# Title Authors Year
1
Gastrointestinal: Endoscopic injection sclerotherapy for duodenal vascular malformation in blue rubber bleb nevus syndrome. ( 30638279 )
2019
2
Photoacoustic imaging as an innovative technique for the exploration of Blue Rubber Bleb Nevus. ( 30742706 )
2019
3
Blue rubber bleb nevus syndrome: endoscopic treatment with sclerotherapy during double-balloon enteroscopy in a 9-year-old boy. ( 30754049 )
2019
4
Pulmonary embolism during pregnancy in a case of blue rubber bleb nevus syndrome. ( 31021979 )
2019
5
Blue rubber bleb nevus syndrome: a rare cause of abdominal pain. ( 31069936 )
2019
6
Efficacy and Safety of Sirolimus in the Treatment of Blue Rubber Bleb Nevus Syndrome in Pediatric Patients. ( 31074881 )
2019
7
Images in Vascular Medicine: Blue rubber bleb nevus syndrome: A rare cause of gastrointestinal bleeding and vascular anomaly in children. ( 28985708 )
2018
8
Sirolimus Experience in Blue Rubber Bleb Nevus Syndrome. ( 29293191 )
2018
9
Sirolimus alternative to blood transfusion as a life saver in blue rubber bleb nevus syndrome: A case report. ( 29465551 )
2018
10
Fern-shaped patch as a hallmark of blue rubber bleb nevus syndrome in neonatal venous malformations. ( 29520504 )
2018
11
A 10-year delayed diagnosis of blue rubber bleb nevus syndrome characterized by refractory iron-deficiency anemia: A case report and literature review. ( 29851802 )
2018
12
Surgery for Blue Rubber Bleb Nevus Syndrome-a Case Report. ( 29973759 )
2018
13
Blue Rubber Bleb Nevus Syndrome. ( 30192241 )
2018
14
Successful Management of Blue Rubber Bleb Nevus Syndrome (BRBNS) with Sirolimus. ( 30402320 )
2018
15
Blue Rubber Bleb Nevus Syndrome: A Possible Cause for Growth Retardation and Pubertal Delay. ( 30537707 )
2018
16
Blue Rubber Bleb Nevus Syndrome with Long-Term Follow-Up: A Case Report and Review of the Literature. ( 30595927 )
2018
17
Orbital hemangioma in Bean's syndrome: The lure of the red herring. ( 30576827 )
2018
18
Blue Rubber Bleb Nevus (BRBN) Syndrome Is Caused by Somatic TEK (TIE2) Mutations. ( 27519652 )
2017
19
Favorable Response to Sirolimus in a Child With Blue Rubber Bleb Nevus Syndrome in the Gastrointestinal Tract. ( 27820137 )
2017
20
Blue Rubber Bleb Nevus Syndrome: Promising Response To Sirolimus. ( 28141567 )
2017
21
Endoscopic management of blue rubber bleb nevus syndrome in the colon with hemostatic clamp and snare. ( 28464205 )
2017
22
Blue rubber bleb nevus syndrome: our experience and new endoscopic management. ( 28816965 )
2017
23
Blue Rubber Bleb Nevus Syndrome: A Delayed Diagnosis. ( 28848791 )
2017
24
Postoperative disseminated intravascular coagulation in a pregnant patient with Blue Rubber Bleb Nevus Syndrome presenting with acute intestinal obstruction: Case report and literature review. ( 28858742 )
2017
25
Successful Endoscopic Resection of Blue Rubber Bleb Nevus Syndrome in the Stomach Using a Snare. ( 28978961 )
2017
26
Proptosis Reduction Using Sirolimus in a Child With an Orbital Vascular Malformation and Blue Rubber Bleb Nevus Syndrome. ( 27065430 )
2017
27
Response of Blue Rubber Bleb Nevus Syndrome to Sirolimus Treatment. ( 27273326 )
2016
28
An atypical presentation of blue rubber bleb nevus syndrome. ( 27365887 )
2016
29
Blue Rubber Bleb Nevus Syndrome with Musculo-skeletal Involvement and Pulmonary Stenosis. ( 27376610 )
2016
30
Blue Rubber Bleb Nevus Syndrome Diagnosed Prenatally as an Epignathus. ( 28005802 )
2016
31
'Education and Imaging. Gastrointestinal: Successful treatment with sirolimus of a patient with blue rubber bleb nevus syndrome. ( 26456887 )
2016
32
Anesthetic Implications of an Obstetric Patient with Blue Rubber Bleb Nevus Syndrome. ( 26579613 )
2016
33
Fatal Outcome from Brain Vascular Lesions in a Neonate with Blue Rubber Bleb Nevus Syndrome. ( 26608350 )
2016
34
Vascular Anomaly of Blue Rubber Bleb Nevus Syndrome. ( 26785651 )
2016
35
The surgery for blue rubber bleb nevus syndrome. ( 26900459 )
2016
36
Blue rubber bleb nevus syndrome: a rare presentation of late-onset anemia and lower gastrointestinal bleeding without cutaneous manifestations. ( 26908380 )
2016
37
Anemia Due to Inflammation in an Anti-Coagulated Patient with Blue Rubber Bleb Nevus Syndrome. ( 27012056 )
2016
38
Blue rubber bleb nevus syndrome with knee joint disorder. ( 27117831 )
2016
39
Enteroscopic sclerotherapy in blue rubber bleb nevus syndrome. ( 25878650 )
2015
40
Blue rubber bleb nevus syndrome: a rare case report. ( 25885154 )
2015
41
Commentary on blue rubber bleb nevus syndrome. ( 25885155 )
2015
42
Low-dose sirolimus controls recurrent iron deficiency in a patient with blue rubber bleb nevus syndrome. ( 26132912 )
2015
43
Therapy for hemangiomas of blue rubber bleb nevus syndrome in the small intestine with single balloon endoscopy. ( 26250645 )
2015
44
Blue rubber bleb nevus syndrome: combined surgical and endoscopic treatment. ( 26273767 )
2015
45
Blue Rubber Bleb Nevus Syndrome Showing Vascular Skin Lesions Predominantly on the Face. ( 26351430 )
2015
46
Blue Rubber Bleb Nevus Syndrome in a Child. ( 26393188 )
2015
47
Gastrointestinal Involvement of Blue Rubber Bleb Nevus Syndrome in a 16-Year-Old Boy. ( 26402370 )
2015
48
Blue rubber bleb nevus syndrome: a rare multisystem affliction. ( 26436974 )
2015
49
Unilateral, Linear Blue Rubber Bleb Nevus Syndrome (Bean's syndrome): An Unfamiliar Presentation: First Case from India. ( 26677281 )
2015
50
Blue rubber bleb nevus syndrome--Role of aggressive surgical resection. ( 26710485 )
2015

Variations for Blue Rubber Bleb Nevus

ClinVar genetic disease variations for Blue Rubber Bleb Nevus:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GLMN NM_053274.2(GLMN): c.1630G> T (p.Glu544Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 92712657: 92712657
2 GLMN NM_053274.2(GLMN): c.1630G> T (p.Glu544Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 92247100: 92247100
3 GLMN NM_053274.2(GLMN): c.761C> G (p.Pro254Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs145762716 GRCh37 Chromosome 1, 92737184: 92737184
4 GLMN NM_053274.2(GLMN): c.761C> G (p.Pro254Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs145762716 GRCh38 Chromosome 1, 92271627: 92271627

Expression for Blue Rubber Bleb Nevus

Search GEO for disease gene expression data for Blue Rubber Bleb Nevus.

Pathways for Blue Rubber Bleb Nevus

GO Terms for Blue Rubber Bleb Nevus

Sources for Blue Rubber Bleb Nevus

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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