BRBN
MCID: BLR027
MIFTS: 40

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 56 74 52 58 29 6
Bean Syndrome 56 52 58
Blue Rubber Bleb Nevus Syndrome 52
Nevus, Blue Rubber Bleb 39
Brbns 52
Brbn 58

Characteristics:

Orphanet epidemiological data:

58
blue rubber bleb nevus
Inheritance: Autosomal dominant; Age of onset: Childhood; Age of death: any age;

OMIM:

56
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:

31
blue rubber bleb nevus:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare circulatory system diseases
Rare skin diseases
Developmental anomalies during embryogenesis


Summaries for Blue Rubber Bleb Nevus

NIH Rare Diseases : 52 Blue rubber bleb nevus syndrome is 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 klippel-trenaunay-weber syndrome. An important gene associated with Blue Rubber Bleb Nevus is GLMN (Glomulin, FKBP Associated Protein). The drugs Sirolimus and Everolimus have been mentioned in the context of this disorder. Affiliated tissues include skin, heart and liver, and related phenotypes are skin rash and cavernous hemangioma

Wikipedia : 74 Blue rubber bleb nevus syndrome is a rare disorder that consists mainly of abnormal blood vessels... more...

More information 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 top 50) (show all 95)
# Related Disease Score Top Affiliating Genes
1 venous malformations, multiple cutaneous and mucosal 32.2 TEK GLMN
2 klippel-trenaunay-weber syndrome 29.4 TEK GLMN
3 hemangioma 11.2
4 iron metabolism disease 11.0
5 deficiency anemia 11.0
6 iron deficiency anemia 11.0
7 intussusception 10.7
8 active peptic ulcer disease 10.7
9 angiomatosis 10.7
10 disseminated intravascular coagulation 10.6
11 cavernous hemangioma 10.6
12 exophthalmos 10.6
13 lymphangioma 10.5
14 thrombocytopenia 10.5
15 rare lymphatic malformation 10.5
16 hemangioma-thrombocytopenia syndrome 10.4
17 volvulus of midgut 10.4
18 ataxia and polyneuropathy, adult-onset 10.4
19 enophthalmos 10.4
20 microcytic anemia 10.4
21 arteriovenous malformation 10.4
22 heart septal defect 10.4
23 vascular disease 10.4
24 angiodysplasia 10.4
25 glomangiomatosis 10.4
26 hemorrhoid 10.4
27 orbital varix 10.4
28 rare vascular disease 10.4
29 alcohol dependence 10.2
30 renal cell carcinoma, nonpapillary 10.2
31 leukemia, chronic lymphocytic 10.2
32 medulloblastoma 10.2
33 nephrolithiasis, calcium oxalate 10.2
34 sturge-weber syndrome 10.2
35 telangiectasia, hereditary hemorrhagic, type 1 10.2
36 tetralogy of fallot 10.2
37 celiac disease 1 10.2
38 congenital heart defects, hamartomas of tongue, and polysyndactyly 10.2
39 ocular motor apraxia 10.2
40 pulmonary arteriovenous fistulas 10.2
41 hydrops, lactic acidosis, and sideroblastic anemia 10.2
42 pulmonary hypertension 10.2
43 cardiac arrest 10.2
44 thrombosis 10.2
45 mucositis 10.2
46 lymphocytic leukemia 10.2
47 spastic diplegia 10.2
48 placenta praevia 10.2
49 hemopericardium 10.2
50 visual epilepsy 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

Human phenotypes related to Blue Rubber Bleb Nevus:

58 31 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 skin rash 58 31 hallmark (90%) Very frequent (99-80%) HP:0000988
2 cavernous hemangioma 58 31 hallmark (90%) Very frequent (99-80%) HP:0001048
3 arteriovenous malformation 58 31 hallmark (90%) Very frequent (99-80%) HP:0100026
4 visceral angiomatosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0100761
5 bone pain 58 31 hallmark (90%) Very frequent (99-80%) HP:0002653
6 prolonged bleeding time 58 31 hallmark (90%) Very frequent (99-80%) HP:0003010
7 subcutaneous nodule 58 31 frequent (33%) Frequent (79-30%) HP:0001482
8 abnormality of coagulation 58 31 frequent (33%) Frequent (79-30%) HP:0001928
9 volvulus 58 31 frequent (33%) Frequent (79-30%) HP:0002580
10 intestinal bleeding 58 31 frequent (33%) Frequent (79-30%) HP:0002584
11 microcytic anemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001935
12 gastrointestinal infarctions 58 31 occasional (7.5%) Occasional (29-5%) HP:0005244
13 hypermelanotic macule 31 HP:0001034
14 pathologic fracture 31 HP:0002756
15 thrombocytopenia 31 HP:0001873
16 abnormality of the mouth 31 HP:0000153
17 iron deficiency anemia 31 HP:0001891
18 abnormality of the vasculature 58 Frequent (79-30%)
19 rectal prolapse 31 HP:0002035
20 hemangioma 31 HP:0001028
21 abnormality of the respiratory system 31 HP:0002086
22 abnormality of the liver 31 HP:0001392
23 intussusception 31 HP:0002576
24 cerebellar medulloblastoma 31 HP:0007129
25 chronic disseminated intravascular coagulation 31 HP:0005520

Symptoms via clinical synopsis from OMIM:

56
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
Sirolimus Approved, Investigational Phase 4 53123-88-9 5284616 6436030 46835353
2
Everolimus Approved Phase 4 159351-69-6 6442177 70789204
3
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
4 Immunologic Factors Phase 4
5 Anti-Infective Agents Phase 4
6 Antibiotics, Antitubercular Phase 4
7 Anti-Bacterial Agents Phase 4
8 Antifungal Agents Phase 4
9 Immunosuppressive Agents Phase 4

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Efficacy of Rapamycin (Sirolimus) in the Treatment of Blue Rubber Bleb Nevus Syndrome, Hereditary or Sporadic Venous Malformation Recruiting NCT03767660 Phase 4 Rapamycin
2 International Registry for Vascular Anomalies Associated With Coagulopathy Completed NCT00576888

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:

40
Skin, Heart, Liver, Bone, Colon, Spinal Cord, Brain

Publications for Blue Rubber Bleb Nevus

Articles related to Blue Rubber Bleb Nevus:

(show top 50) (show all 357)
# Title Authors PMID Year
1
Blue rubber bleb nevus syndrome. 61 56
11158481 2001
2
Central nervous system involvement in blue-rubber-bleb-nevus syndrome. 61 56
3778250 1986
3
Blue rubber bleb nevus syndrome. 61 56
6662253 1983
4
Blue rubber bleb nevus syndrome. 61 56
315078 1979
5
Blue rubber-bleb nevus syndrome. 61 56
642118 1978
6
Association of blue rubber bleb nevus syndrome with chronic lymphocytic leukemia and hypernephroma. 61 56
628129 1978
7
Blue rubber bleb nevus syndrome: report of a case. 61 56
872712 1977
8
The association of blue rubber bleb nevus and Maffucci's syndrome. 61 56
6016303 1967
9
Blue rubber bleb nevus. 61 56
5848229 1965
10
Blue rubber-bleb nevus syndrome. Generalized cavernous hemangiomatosis or venous hamartoma with medulloblastoma of the cerebellum: case report and review of the literature. 61 56
13982068 1962
11
Blue rubber bleb nevus. 61 56
13892938 1961
12
A gene for familial venous malformations maps to chromosome 9p in a second large kindred. 56
7783168 1995
13
Blue rubber bleb naevi (report of a family in which only males were affected). 56
5410992 1970
14
Blue rubber bleb naevus. 56
5920397 1966
15
Low-dose sirolimus for a patient with blue rubber bleb nevus syndrome. 61
31879989 2020
16
Anesthetic considerations for blue rubber bleb nevus syndrome: a case report. 61
32026052 2019
17
Blue rubber bleb nevus: a rare cause of GI bleeding-review of management. 61
31848137 2019
18
Postural changes revealing orbital venous malformation using ultrasound in blue rubber bleb nevus syndrome. 61
31691617 2019
19
Blue rubber bleb nevus syndrome of the orbit and gastrointestinal tract. 61
31718361 2019
20
Diagnosis and management of children with Blue Rubber Bleb Nevus Syndrome: A multi-center case series. 61
31358484 2019
21
Acquired Asymptomatic Blue Tongue: A Report of Exogenous Agent-associated Tongue Dyschromia and Review of Blue Tongue Etiologies. 61
31890441 2019
22
Blue Rubber Bleb Nevus Syndrome: A Surgical Dilemma. 61
31638551 2019
23
Successful management of anemia with sirolimus in blue rubber bleb nevus syndrome: case report and update. 61
31232079 2019
24
Blue rubber bleb nevus syndrome. 61
31358599 2019
25
Magnetically Controlled Capsule Endoscopy in Children: A Single-center, Retrospective Cohort Study. 61
30747810 2019
26
Off-Label Use of Sirolimus and Everolimus in a Pediatric Center: A Case Series and Review of the Literature. 61
31124053 2019
27
Blue rubber bleb nevus syndrome in geriatric patients. 61
31255430 2019
28
Gastrointestinal: Endoscopic injection sclerotherapy for duodenal vascular malformation in blue rubber bleb nevus syndrome. 61
30638279 2019
29
Pulmonary embolism during pregnancy in a case of blue rubber bleb nevus syndrome. 61
31205114 2019
30
Blue rubber bleb nevus syndrome: a rare cause of abdominal pain. 61
31069936 2019
31
Blue rubber bleb nevus syndrome: endoscopic treatment with sclerotherapy during double-balloon enteroscopy in a 9-year-old boy. 61
30754049 2019
32
Angiosarcoma of the Liver: Clinicopathologic Features and Morphologic Patterns. 61
30986799 2019
33
Orbital Hemangioma in Bean Syndrome: The Lure of the Red Herring. 61
30576827 2019
34
Rare Germline GLMN Variants Identified from Blue Rubber Bleb Nevus Syndrome Might Impact mTOR Signaling. 61
31793416 2019
35
Blue Rubber Bleb Nevus Syndrome: A Possible Cause for Growth Retardation and Pubertal Delay. 61
30537707 2019
36
Blue Rubber Bleb Nevus Syndrome. 61
30192241 2018
37
An unusual cause of gastrointestinal bleeding in a hemodialysis patient. 61
29608808 2018
38
Glomuvenous malformations in a young man. 61
30677819 2018
39
Fern-shaped patch as a hallmark of blue rubber bleb nevus syndrome in neonatal venous malformations. 61
29520504 2018
40
A 10-year delayed diagnosis of blue rubber bleb nevus syndrome characterized by refractory iron-deficiency anemia: A case report and literature review. 61
29851802 2018
41
Surgery for Blue Rubber Bleb Nevus Syndrome-a Case Report. 61
29973759 2018
42
New therapies for vascular anomalies of the gastrointestinal tract. 61
29479946 2018
43
An institution-wide algorithm for direct-stick embolization of peripheral venous malformations. 61
29396158 2018
44
[Blue rubber bleb naevus syndrome involving the pleura]. 61
29602484 2018
45
Sirolimus Experience in Blue Rubber Bleb Nevus Syndrome. 61
29293191 2018
46
Images in Vascular Medicine: Blue rubber bleb nevus syndrome: A rare cause of gastrointestinal bleeding and vascular anomaly in children. 61
28985708 2018
47
Sirolimus alternative to blood transfusion as a life saver in blue rubber bleb nevus syndrome: A case report. 61
29465551 2018
48
Surgical Emergencies in Intestinal Venous Malformations. 61
28946166 2018
49
Blue Rubber Bleb Nevus Syndrome with Long-Term Follow-Up: A Case Report and Review of the Literature. 61
30595927 2018
50
Successful Management of Blue Rubber Bleb Nevus Syndrome (BRBNS) with Sirolimus. 61
30402320 2018

Variations for Blue Rubber Bleb Nevus

ClinVar genetic disease variations for Blue Rubber Bleb Nevus:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GLMN NM_053274.3(GLMN):c.1630G>T (p.Glu544Ter)SNV Pathogenic 549853 rs1557497881 1:92712657-92712657 1:92247100-92247100
2 GLMN NM_053274.3(GLMN):c.761C>G (p.Pro254Arg)SNV Conflicting interpretations of pathogenicity 298140 rs145762716 1:92737184-92737184 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
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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