BRBN
MCID: BLR027
MIFTS: 38

Blue Rubber Bleb Nevus (BRBN)

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 57 76 53 59 29
Bean Syndrome 57 53 59
Blue Rubber Bleb Nevus Syndrome 53
Nevus, Blue Rubber Bleb 40
Brbns 53
Brbn 59

Characteristics:

Orphanet epidemiological data:

59
blue rubber bleb nevus
Inheritance: Autosomal dominant; Age of onset: Childhood; Age of death: any age;

OMIM:

57
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:

32
blue rubber bleb nevus:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Blue Rubber Bleb Nevus

NIH Rare Diseases : 53 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 iron metabolism disease. An important gene associated with Blue Rubber Bleb Nevus is TEK (TEK Receptor Tyrosine Kinase). Affiliated tissues include skin, liver and bone, and related phenotypes are subcutaneous nodule and cavernous hemangioma

Wikipedia : 76 Blue rubber bleb nevus syndrome (or "BRBNS", or "blue rubber bleb syndrome, or "blue rubber-bleb nevus",... more...

Description from OMIM: 112200

Related Diseases for Blue Rubber Bleb Nevus

Diseases related to Blue Rubber Bleb Nevus via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 35)
# Related Disease Score Top Affiliating Genes
1 venous malformations, multiple cutaneous and mucosal 11.6
2 iron metabolism disease 10.6
3 intussusception 10.5
4 deficiency anemia 10.5
5 iron deficiency anemia 10.5
6 hemangioma 10.5
7 disseminated intravascular coagulation 10.5
8 thrombocytopenia 10.4
9 thrombosis 10.4
10 lymphangioma 10.4
11 leukemia, chronic lymphocytic 2 10.2
12 leukemia, chronic lymphocytic 10.2
13 medulloblastoma 10.2
14 celiac disease 1 10.2
15 pulmonary hypertension 10.2
16 arteriovenous fistula 10.2
17 leukemia 10.2
18 lymphocytic leukemia 10.2
19 placenta praevia 10.2
20 enophthalmos 10.2
21 microcytic anemia 10.2
22 hemopericardium 10.2
23 dementia 10.2
24 atrial heart septal defect 10.2
25 cystic lymphangioma 10.2
26 angiokeratoma 10.2
27 intestinal obstruction 10.2
28 neuropathy 10.2
29 exophthalmos 10.2
30 hemangioendothelioma 10.2
31 leukemia, b-cell, chronic 10.2
32 lymphangiomatosis 10.2
33 orbital varix 10.2
34 encephalopathy 10.2
35 epignathus 10.2

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

Symptoms via clinical synopsis from OMIM:

57
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
intestinal venous malformations
intussusception
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

Human phenotypes related to Blue Rubber Bleb Nevus:

59 32 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 subcutaneous nodule 59 32 frequent (33%) Frequent (79-30%) HP:0001482
2 cavernous hemangioma 59 32 hallmark (90%) Very frequent (99-80%) HP:0001048
3 arteriovenous malformation 59 32 hallmark (90%) Very frequent (99-80%) HP:0100026
4 microcytic anemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001935
5 visceral angiomatosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0100761
6 skin rash 59 32 hallmark (90%) Very frequent (99-80%) HP:0000988
7 bone pain 59 32 hallmark (90%) Very frequent (99-80%) HP:0002653
8 prolonged bleeding time 59 32 hallmark (90%) Very frequent (99-80%) HP:0003010
9 abnormality of coagulation 59 32 frequent (33%) Frequent (79-30%) HP:0001928
10 gastrointestinal infarctions 59 32 occasional (7.5%) Occasional (29-5%) HP:0005244
11 volvulus 59 32 frequent (33%) Frequent (79-30%) HP:0002580
12 intestinal bleeding 59 32 frequent (33%) Frequent (79-30%) HP:0002584
13 pathologic fracture 32 HP:0002756
14 thrombocytopenia 32 HP:0001873
15 abnormality of the mouth 32 HP:0000153
16 iron deficiency anemia 32 HP:0001891
17 abnormality of the vasculature 59 Frequent (79-30%)
18 rectal prolapse 32 HP:0002035
19 hypermelanotic macule 32 HP:0001034
20 abnormality of the respiratory system 32 HP:0002086
21 abnormality of the liver 32 HP:0001392
22 hemangioma 32 HP:0001028
23 cerebellar medulloblastoma 32 HP:0007129
24 intussusception 32 HP:0002576
25 chronic disseminated intravascular coagulation 32 HP:0005520

Drugs & Therapeutics for Blue Rubber Bleb Nevus

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 29

Anatomical Context for Blue Rubber Bleb Nevus

MalaCards organs/tissues related to Blue Rubber Bleb Nevus:

41
Skin, Liver, Bone, Spinal Cord, Small Intestine, Heart, B Cells

Publications for Blue Rubber Bleb Nevus

Articles related to Blue Rubber Bleb Nevus:

(show top 50) (show all 231)
# Title Authors Year
1
Surgery for Blue Rubber Bleb Nevus Syndrome-a Case Report. ( 29973759 )
2018
2
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
3
Blue rubber bleb nevus syndrome: A rare cause of gastrointestinal bleeding and vascular anomaly in children. ( 28985708 )
2018
4
Sirolimus alternative to blood transfusion as a life saver in blue rubber bleb nevus syndrome: A case report. ( 29465551 )
2018
5
Fern-shaped patch as a hallmark of blue rubber bleb nevus syndrome in neonatal venous malformations. ( 29520504 )
2018
6
Blue Rubber Bleb Nevus Syndrome. ( 30192241 )
2018
7
Successful Management of Blue Rubber Bleb Nevus Syndrome (BRBNS) with Sirolimus. ( 30402320 )
2018
8
Blue Rubber Bleb Nevus Syndrome: A Possible Cause for Growth Retardation and Pubertal Delay. ( 30537707 )
2018
9
Blue Rubber Bleb Nevus Syndrome: A Delayed Diagnosis. ( 28848791 )
2017
10
Successful Endoscopic Resection of Blue Rubber Bleb Nevus Syndrome in the Stomach Using a Snare. ( 28978961 )
2017
11
Blue rubber bleb nevus syndrome: our experience and new endoscopic management. ( 28816965 )
2017
12
Blue Rubber Bleb Nevus Syndrome: Promising Response To Sirolimus. ( 28141567 )
2017
13
Endoscopic management of blue rubber bleb nevus syndrome in the colon with hemostatic clamp and snare. ( 28464205 )
2017
14
Sirolimus Experience in Blue Rubber Bleb Nevus Syndrome. ( 29293191 )
2017
15
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
16
Blue Rubber Bleb Nevus Syndrome with Musculo-skeletal Involvement and Pulmonary Stenosis. ( 27376610 )
2016
17
Anesthetic Implications of an Obstetric Patient with Blue Rubber Bleb Nevus Syndrome. ( 26579613 )
2016
18
Fatal Outcome from Brain Vascular Lesions in a Neonate with Blue Rubber Bleb Nevus Syndrome. ( 26608350 )
2016
19
Anemia Due to Inflammation in an Anti-Coagulated Patient with Blue Rubber Bleb Nevus Syndrome. ( 27012056 )
2016
20
Vascular Anomaly of Blue Rubber Bleb Nevus Syndrome. ( 26785651 )
2016
21
Blue Rubber Bleb Nevus (BRBN) Syndrome is caused by Somatic TEK (TIE2) Mutations. ( 27519652 )
2016
22
Response of Blue Rubber Bleb Nevus Syndrome to Sirolimus Treatment. ( 27273326 )
2016
23
Favorable Response to Sirolimus in a Child With Blue Rubber Bleb Nevus Syndrome in the Gastrointestinal Tract. ( 27820137 )
2016
24
The surgery for blue rubber bleb nevus syndrome. ( 26900459 )
2016
25
Blue rubber bleb nevus syndrome with knee joint disorder. ( 27117831 )
2016
26
An atypical presentation of blue rubber bleb nevus syndrome. ( 27365887 )
2016
27
Proptosis Reduction Using Sirolimus in a Child With an Orbital Vascular Malformation and Blue Rubber Bleb Nevus Syndrome. ( 27065430 )
2016
28
Blue rubber bleb nevus syndrome: a rare presentation of late-onset anemia and lower gastrointestinal bleeding without cutaneous manifestations. ( 26908380 )
2016
29
Blue Rubber Bleb Nevus Syndrome Diagnosed Prenatally as an Epignathus. ( 28005802 )
2016
30
Adult-Onset Blue Rubber Bleb Nevus Syndrome. ( 26790516 )
2015
31
Gastrointestinal Involvement of Blue Rubber Bleb Nevus Syndrome in a 16-Year-Old Boy. ( 26402370 )
2015
32
Blue Rubber Bleb Nevus Syndrome Showing Vascular Skin Lesions Predominantly on the Face. ( 26351430 )
2015
33
Unilateral, Linear Blue Rubber Bleb Nevus Syndrome (Bean's syndrome): An Unfamiliar Presentation: First Case from India. ( 26677281 )
2015
34
Blue rubber bleb nevus syndrome: a rare multisystem affliction. ( 26436974 )
2015
35
Successful treatment with sirolimus of a patient with Blue Rubber Bleb Nevus syndrome. ( 26456887 )
2015
36
Therapy for hemangiomas of blue rubber bleb nevus syndrome in the small intestine with single balloon endoscopy. ( 26250645 )
2015
37
Blue rubber bleb nevus syndrome: combined surgical and endoscopic treatment. ( 26273767 )
2015
38
Blue rubber bleb nevus syndrome--Role of aggressive surgical resection. ( 26710485 )
2015
39
Blue Rubber Bleb Nevus Syndrome in a Child. ( 26393188 )
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
Blue rubber bleb nevus syndrome: treatment of lesions in the small intestine with repeated injection of lauromacrogol. ( 25442079 )
2015
44
Enteroscopic sclerotherapy in blue rubber bleb nevus syndrome. ( 25878650 )
2015
45
Blue rubber bleb nevus syndrome coexisted with intestinal intussusception: a case report. ( 25237409 )
2014
46
Blue rubber bleb nevus syndrome: a case report and literature review. ( 25493043 )
2014
47
Blue rubber bleb nevus syndrome: a case report. ( 24470675 )
2014
48
Orbital Varix Thrombosis and Review of Orbital Vascular Anomalies in Blue Rubber Bleb Nevus Syndrome. ( 24879057 )
2014
49
Blue rubber bleb nevus syndrome: late onset in a patient with cutaneous, neurological, and gastrointestinal involvement. ( 24898216 )
2014
50
Rapamycin in the Treatment of Blue Rubber Bleb Nevus Syndrome. ( 25223498 )
2014

Variations for Blue Rubber Bleb Nevus

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 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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