GSD
MCID: CYS041
MIFTS: 34

Cystic Angiomatosis of Bone, Diffuse (GSD)

Categories: Bone diseases, Cardiovascular diseases, Fetal diseases, Rare diseases
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Aliases & Classifications for Cystic Angiomatosis of Bone, Diffuse

MalaCards integrated aliases for Cystic Angiomatosis of Bone, Diffuse:

Name: Cystic Angiomatosis of Bone, Diffuse 57
Gorham-Stout Disease 57 58
Progressive Massive Osteolysis 58
Idiopathic Massive Osteolysis 58
Vanishing Bone Disease 58
Osteolysis, Massive 57
Massive Osteolyses 71
Gorham Syndrome 58
Gorham Disease 58
Gsd 57

Characteristics:


Inheritance:

Autosomal dominant 57

Age Of Onset:

Gorham-Stout Disease: All ages 58

Classifications:

Orphanet: 58  
Rare circulatory system diseases
Rare systemic and rhumatological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Cystic Angiomatosis of Bone, Diffuse

Orphanet: 58 Gorham-Stout disease (GSD) is a rare disease of massive osteolysis associated with proliferation and dilation of lymphatic vessels. GSD may affect any bone in the body and can be monostotic or polyostotic. Symptoms at presentation are dependent upon the location(s) of the disease; the most common symptom is localized pain. The disease may be discovered after a pathological fracture.

MalaCards based summary: Cystic Angiomatosis of Bone, Diffuse, also known as gorham-stout disease, is related to glycogen storage disease iv and glycogen storage disease iii. The drugs Anesthetics and Endothelial Growth Factors have been mentioned in the context of this disorder. Affiliated tissues include bone, spinal cord and endothelial, and related phenotypes are elevated alkaline phosphatase of bone origin and patchy reduction of bone mineral density

More information from OMIM: 123880

Related Diseases for Cystic Angiomatosis of Bone, Diffuse

Diseases related to Cystic Angiomatosis of Bone, Diffuse via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 177)
# Related Disease Score Top Affiliating Genes
1 glycogen storage disease iv 11.8
2 glycogen storage disease iii 11.7
3 glycogen storage disease 0, muscle 11.6
4 glycogen storage disease type 0 11.5
5 glycogen storage disease vi 11.5
6 glycogen storage disease ixd 11.5
7 glycogen storage disease 0, liver 11.5
8 glycogen storage disease ib 11.5
9 glycogen storage disease ixb 11.5
10 glycogen storage disease due to phosphorylase kinase deficiency 11.5
11 glycogen storage disease ic 11.5
12 glycogen storage disease v 11.5
13 gorham's disease 11.5
14 glycogen storage disease vii 11.4
15 phosphorylase kinase deficiency 11.4
16 glycogen storage disease due to glucose-6-phosphatase deficiency type ib 11.4
17 glycogen storage disease ixa1 11.4
18 glycogen storage disease due to glycogen branching enzyme deficiency 11.4
19 glycogen storage disease ii 11.4
20 glycogen storage disease due to liver phosphorylase kinase deficiency 11.4
21 glycogen storage disease ixc 11.4
22 gerstmann-straussler disease 11.4
23 glycogen storage disease 11.3
24 glycogen storage disease due to glucose-6-phosphatase deficiency 11.3
25 glycogen storage disease x 11.2
26 glycogen storage disease xii 11.2
27 glycogen storage disease xv 11.2
28 fanconi-bickel syndrome 11.2
29 glycogen storage disease of heart, lethal congenital 11.1
30 danon disease 11.1
31 glycogen storage disease xiii 11.1
32 glycogen storage disease due to acid maltase deficiency, infantile onset 11.1
33 glycogen storage disease due to acid maltase deficiency, late-onset 11.1
34 polyglucosan body neuropathy, adult form 11.0
35 glycogen storage disease viii 11.0
36 phosphoglycerate kinase 1 deficiency 11.0
37 congenital disorder of glycosylation, type it 11.0
38 glycogen storage disease ixa 11.0
39 glutathione synthetase deficiency 10.9
40 lactate dehydrogenase b deficiency 10.9
41 glycogen storage disease due to lactate dehydrogenase deficiency 10.9
42 glycogen storage disease with hypertrophic cardiomyopathy 10.9
43 glycogen storage disease due to glycogen synthase deficiency 10.9
44 bone disease 10.8
45 lymphangioma 10.7
46 generalized lymphatic anomaly 10.7
47 lymphangiomatosis 10.7
48 diffuse lymphatic malformation 10.7
49 cerebrospinal fluid leak 10.5
50 lymphatic system disease 10.5

Graphical network of the top 20 diseases related to Cystic Angiomatosis of Bone, Diffuse:



Diseases related to Cystic Angiomatosis of Bone, Diffuse

Symptoms & Phenotypes for Cystic Angiomatosis of Bone, Diffuse

Human phenotypes related to Cystic Angiomatosis of Bone, Diffuse:

58 30 (show all 39)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 elevated alkaline phosphatase of bone origin 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0010639
2 patchy reduction of bone mineral density 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0010657
3 osteopenia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000938
4 bone pain 58 30 Frequent (33%) Frequent (79-30%)
HP:0002653
5 abnormality of the cervical spine 58 30 Frequent (33%) Frequent (79-30%)
HP:0003319
6 cortical irregularity 58 30 Frequent (33%) Frequent (79-30%)
HP:0005731
7 impaired mastication 58 30 Frequent (33%) Frequent (79-30%)
HP:0005216
8 lymphangioma 58 30 Frequent (33%) Frequent (79-30%)
HP:0100764
9 functional motor deficit 58 30 Frequent (33%) Frequent (79-30%)
HP:0004302
10 torticollis 58 30 Frequent (33%) Frequent (79-30%)
HP:0000473
11 mandibular pain 58 30 Frequent (33%) Frequent (79-30%)
HP:0200025
12 abnormality of the temporomandibular joint 58 30 Frequent (33%) Frequent (79-30%)
HP:0010754
13 abnormality of the internal auditory canal 58 30 Frequent (33%) Frequent (79-30%)
HP:0011384
14 rhinorrhea 58 30 Frequent (33%) Frequent (79-30%)
HP:0031417
15 osteolysis involving bones of the lower limbs 58 30 Frequent (33%) Frequent (79-30%)
HP:0009139
16 osteolysis involving bones of the upper limbs 58 30 Frequent (33%) Frequent (79-30%)
HP:0045039
17 abnormal occipital bone morphology 30 Frequent (33%) HP:0012294
18 hearing impairment 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000365
19 abnormality of femur morphology 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002823
20 abnormality of finger 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001167
21 pleural effusion 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002202
22 hemangiomatosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0007461
23 pathologic fracture 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002756
24 chiari type i malformation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0007099
25 abnormality of the thoracic cavity 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0045027
26 mastoiditis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000265
27 abnormal ethmoid bone morphology 30 Occasional (7.5%) HP:0430005
28 meningitis 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001287
29 osteomyelitis 58 30 Very rare (1%) Very rare (<4-1%)
HP:0002754
30 spinal cord compression 58 30 Very rare (1%) Very rare (<4-1%)
HP:0002176
31 abnormal pelvis bone morphology 58 30 Very rare (1%) Very rare (<4-1%)
HP:0040163
32 osteolysis 58 Very frequent (99-80%)
33 edema 58 Frequent (79-30%)
34 abnormal bone ossification 58 Frequent (79-30%)
35 abnormality of the occipital bone 58 Frequent (79-30%)
36 abnormality of ethmoid bone 58 Occasional (29-5%)
37 abnormality of the calvaria 58 Frequent (79-30%)
38 abnormality of facial skeleton 58 Frequent (79-30%)
39 cystic angiomatosis of bone 30 HP:0002833

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Skel:
diffuse cystic angiomatosis of bone

Radiology:
osteolytic lesions with a thin sclerotic rim throughout the length of long bones
increased sclerosis with age

Misc:
asymptomatic

Clinical features from OMIM®:

123880 (Updated 08-Dec-2022)

Drugs & Therapeutics for Cystic Angiomatosis of Bone, Diffuse

Drugs for Cystic Angiomatosis of Bone, Diffuse (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Anesthetics
2 Endothelial Growth Factors
3 Mitogens

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Dynamic Contrast Enhanced MR Lymphangiogram Imaging of Lymphatic Anomalies (LA) Completed NCT02744027
2 Identification of Biomarkers for Patients With Vascular Anomalies Recruiting NCT03001180
3 Lymphatic Anomalies Registry for the Assessment of Outcome Data Recruiting NCT02399527

Search NIH Clinical Center for Cystic Angiomatosis of Bone, Diffuse

Genetic Tests for Cystic Angiomatosis of Bone, Diffuse

Anatomical Context for Cystic Angiomatosis of Bone, Diffuse

Organs/tissues related to Cystic Angiomatosis of Bone, Diffuse:

MalaCards : Bone, Spinal Cord, Endothelial, Skin

Publications for Cystic Angiomatosis of Bone, Diffuse

Articles related to Cystic Angiomatosis of Bone, Diffuse:

(show top 50) (show all 336)
# Title Authors PMID Year
1
Interleukin-6: a potential mediator of the massive osteolysis in patients with Gorham-Stout disease. 62 57
8626854 1996
2
Massive osteolysis (acute spontaneous absorption of bone, phantom bone, disappearing bone); its relation to hemangiomatosis. 57
13263344 1955
3
Characterization of Extracellular Vesicles in Osteoporotic Patients Compared to Osteopenic and Healthy Controls. 62
36053959 2022
4
Thoracic Gorham-Stout disease masquerading as an ovarian malignancy: a differential diagnosis in non-malignant causes of raised Ca-125 and overview of this rare pathology. 62
36414336 2022
5
[Complicated lymphatic anomaly: a clinicopathological analysis of four cases]. 62
36323545 2022
6
A case of restitution ad integrum in Gorham-Stout disease. 62
36332892 2022
7
Vascular Anomaly Syndromes in the ISSVA Classification System: Imaging Findings and Role of Interventional Radiology in Management. 62
36190850 2022
8
Gorham-Stout disease, a diagnosis of exclusion. 62
35814817 2022
9
Difficult Therapeutic Decisions in Gorham-Stout Disease-Case Report and Review of the Literature. 62
36141975 2022
10
How we approach the diagnosis and management of complex lymphatic anomalies. 62
33844431 2022
11
Molecular Mechanisms Driving Lymphedema and Other Lymphatic Anomalies. 62
35817543 2022
12
Gorham-Stout disease with life-threatening pleural effusion treated with a pleuro-peritoneal shunt: a case report. 62
35642669 2022
13
Lymphatic Anomalies in Children: Update on Imaging Diagnosis, Genetics, and Treatment. 62
35043669 2022
14
"A case of vanishing bone disease complicated by chylothorax- diagnosis and treatment". 62
35774987 2022
15
Spouting Chylothorax in Gorham-Stout Disease. 62
35104434 2022
16
Gorham-Stout case report: a multi-omic analysis reveals recurrent fusions as new potential drivers of the disease. 62
35668402 2022
17
Gorham-Stout disease of skull base leading to cranial settling and rhinorrhea: a case-based review. 62
35217940 2022
18
Vanishing Lymphocytes in a Case of Vanishing Bone Disease. 62
35089478 2022
19
Non-secretory myeloma in young man mimicking the Gorham disease: case report and the literature review. 62
34610233 2022
20
Vanishing Bone Disease of the Thoracic Cage: Challenges in the Management of a Rare Entity. 62
35415229 2022
21
The importance of computed tomography (CT) scans in the early diagnosis of Gorham-Stout Disease - A case report. 62
34950281 2022
22
Gorham Stout disease of the temporal bone with cerebrospinal fluid leak. 62
34115176 2022
23
Bacterial meningitis due to the Streptococcus mitis group in children with cerebrospinal fluid leak. 62
35145856 2022
24
Endoscopic Endonasal Dural Reconstruction for a Cerebrospinal Fluid Leak in the Middle Cranial Fossa of a Patient with Gorham-stout Disease with Skull Base Defect. 62
35493538 2022
25
Gorham-Stout disease: A multirod lumbar reconstruction with off-label suppression-remission therapy. 62
35509593 2022
26
Idiopathic focal calvarial thinning: A case report. 62
36447892 2022
27
Daratumumab, Lenalidomide, and Dexamethasone (DRD), an Active Regimen in the Treatment of Immunosuppression-Associated Plasmablastic Lymphoma (PBL) in the Setting of Gorham's Lymphangiomatosis: Review of the Literature. 62
35795542 2022
28
A Case of Gorham-Stout Disease of the Skull Base Treated With Intensity Modulated Radiation Therapy. 62
34729445 2022
29
Current concepts from diagnosis to management in Gorham-Stout disease: a systematic narrative review of about 350 cases. 62
35076412 2022
30
[Unilateral subjective tinnitus «vanishing bone» disease (Goram-Stout syndrome).] 62
36404698 2022
31
Cerebrospinal fluid-lymphatic fistula causing spontaneous intracranial hypotension in a child with kaposiform lymphangiomatosis. 62
34286352 2021
32
Surgical treatment of a patient with Gorham-Stout disease of craniovertebral junction: case report and literature review. 62
34585642 2021
33
A narrative review of the role of sirolimus in the treatment of congenital vascular malformations. 62
33737259 2021
34
A Case of Gorham-Stout Disease Treated with Fistula Closure by Transmeatal Approach. 62
34434067 2021
35
Severe adverse events during sirolimus "off-label" therapy for vascular anomalies. 62
33580918 2021
36
KRAS-driven model of Gorham-Stout disease effectively treated with trametinib. 62
34156985 2021
37
Radiographic extent of maxillofacial Gorham's disease and its impact on recurrence: A systematic review. 62
34020915 2021
38
Imaging Spectrum of Calvarial Abnormalities. 62
34197249 2021
39
Gorham-Stout Disease with Multiple Bone Involvement-Challenging Diagnosis of a Rare Disease and Literature Review. 62
34356962 2021
40
Gorham-Stout disease: interesting cause of pleural effusion. 62
33692056 2021
41
Gorham-Stout Disease Resulting in Spinal Deformity Treated by Fusion Surgery Combined With Everolimus Therapy: A Case Report. 62
33657060 2021
42
Vanishing bone disease: An enigma. 62
34083962 2021
43
Dysregulated miRNAs in bone cells of patients with Gorham-Stout disease. 62
33609323 2021
44
Gorham Disease Limited to the Left Upper Extremity Without Hand Involvement. 62
32423777 2021
45
Gorham-Stout disease with parietal bone osteolysis: a case series and review of literature. 62
32216589 2021
46
Utility of the spinal instability neoplastic score to identify patients with Gorham-Stout disease requiring spine surgery. 62
34221558 2021
47
Negative-pressure Wound Therapy for Sacral Pressure Ulcer in Gorham-Stout Disease. 62
33552805 2021
48
Gorham-Stout Disease with Clinical Response to Sirolimus Treatment. 62
34527618 2021
49
Gorham-Stout disease of the mandible, manubrium and cervical spine presenting as bilateral chylothorax. 62
33468524 2021
50
CT and MRI Findings of Focal Splenic Lesions and Ascites in Generalized Lymphatic Anomaly, Kaposiform Lymphangiomatosis, and Gorham-Stout Disease. 62
34513208 2021

Variations for Cystic Angiomatosis of Bone, Diffuse

Expression for Cystic Angiomatosis of Bone, Diffuse

Search GEO for disease gene expression data for Cystic Angiomatosis of Bone, Diffuse.

Pathways for Cystic Angiomatosis of Bone, Diffuse

GO Terms for Cystic Angiomatosis of Bone, Diffuse

Sources for Cystic Angiomatosis of Bone, Diffuse

2 CDC
6 CNVD
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9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
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29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
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34 ICD9CM
35 IUPHAR
36 LifeMap
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43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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