GSD
MCID: CYS041
MIFTS: 30

Cystic Angiomatosis of Bone, Diffuse (GSD)

Categories: Bone diseases, Cardiovascular diseases, Fetal diseases, Rare diseases

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 59
Progressive Massive Osteolysis 59
Idiopathic Massive Osteolysis 59
Gorham-Stout Disease; Gsd 57
Vanishing Bone Disease 59
Osteolysis, Massive 57
Massive Osteolyses 73
Gorham Syndrome 59
Gorham Disease 59
Gsd 57

Characteristics:

Orphanet epidemiological data:

59
gorham-stout disease
Inheritance: Not applicable; Age of onset: All ages; Age of death: adolescent,adult,early childhood,elderly,late childhood,young Adult;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
cystic angiomatosis of bone, diffuse:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 123880
Orphanet 59 ORPHA73
ICD10 via Orphanet 34 M89.5
UMLS via Orphanet 74 C0029438
MedGen 42 C0029438
SNOMED-CT via HPO 69 263681008
UMLS 73 C0029438

Summaries for Cystic Angiomatosis of Bone, Diffuse

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 ia. The drugs Anesthetics and Endothelial Growth Factors have been mentioned in the context of this disorder. Affiliated tissues include bone, endothelial and liver, and related phenotype is cystic angiomatosis of bone.

Description 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 62)
# Related Disease Score Top Affiliating Genes
1 glycogen storage disease iv 12.2
2 glycogen storage disease ia 11.9
3 glycogen storage disease iii 11.9
4 glycogen storage disease, type ixd 11.9
5 glycogen storage disease 0, liver 11.8
6 glycogen storage disease vi 11.8
7 glycogen storage disease v 11.8
8 glycogen storage disease ixa1 11.8
9 glycogen storage disease vii 11.8
10 glycogen storage disease type 0 11.7
11 gerstmann-straussler disease 11.7
12 glycogen storage disease xii 11.7
13 glycogen storage disease ib 11.6
14 glycogen storage disease ic 11.6
15 phosphorylase kinase deficiency 11.5
16 gorham's disease 11.5
17 glycogen storage disease due to glucose-6-phosphatase deficiency 11.4
18 glycogen storage disease ii 11.4
19 glycogen storage disease 11.3
20 glycogen storage disease ixb 11.3
21 fanconi-bickel syndrome 11.3
22 muscular phosphorylase kinase deficiency 11.2
23 glycogen storage disease xv 11.2
24 glycogen storage disease due to liver phosphorylase kinase deficiency 11.2
25 glycogen storage disease x 11.2
26 glycogen storage disease ixc 11.2
27 danon disease 11.1
28 glycogen storage disease 0, muscle 11.1
29 glycogen storage disease xiii 11.1
30 glycogen storage disease due to glycogen branching enzyme deficiency 11.1
31 glycogen storage disease due to acid maltase deficiency, infantile onset 11.1
32 glycogen storage disease due to acid maltase deficiency, late-onset 11.1
33 glycogen storage disease viii 11.1
34 glycogen storage disease of heart, lethal congenital 11.0
35 congenital disorder of glycosylation, type it 11.0
36 glycogen storage disease ixa 11.0
37 phosphoglycerate kinase 1 deficiency 10.9
38 lactate dehydrogenase b deficiency 10.9
39 phosphoglycerate mutase deficiency 10.9
40 glycogen storage disease due to lactate dehydrogenase deficiency 10.9
41 lymphangiomatosis 10.4
42 lymphatic malformations 10.4
43 kaposiform lymphangiomatosis 10.4
44 lymphangioleiomyomatosis 10.3
45 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
46 bone disease 10.3
47 bone resorption disease 10.3
48 intracranial hypotension 10.3
49 exophthalmos 10.3
50 chiari malformation 10.3

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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Cystic Angiomatosis of Bone, Diffuse:

32
# Description HPO Frequency HPO Source Accession
1 cystic angiomatosis of bone 32 HP:0002833

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 Not Applicable
2 Endothelial Growth Factors
3 Mitogens

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Imaging of Lymphatic Anomalies Completed NCT02744027 Not Applicable
2 Identification of Biomarkers for Patients With Vascular Anomalies Recruiting NCT03001180
3 Lymphatic Anomalies Registry 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

MalaCards organs/tissues related to Cystic Angiomatosis of Bone, Diffuse:

41
Bone, Endothelial, Liver, Heart

Publications for Cystic Angiomatosis of Bone, Diffuse

Articles related to Cystic Angiomatosis of Bone, Diffuse:

(show top 50) (show all 75)
# Title Authors Year
1
Intracranial hypotension and hypertension: reversible Chiari malformation due to dynamic cerebrospinal fluid abnormalities in Gorham-Stout disease. Case report. ( 30074451 )
2018
2
Expert's comment concerning Grand Rounds case entitled "Thoracic osteotomy for Gorham-Stout disease of the spine: a case report and literature review" by C. Maillot et al., Eur Spine J: doi 10.1007/s00586-014-3613-3. ( 28500360 )
2018
3
Gorham-Stout Disease Presenting as Acute Unilateral Proptosis. ( 28837441 )
2018
4
Vanishing Act: Gorham-Stout Disease Leading to Dynamic Cerebrospinal Fluid Abnormalities. ( 29016411 )
2018
5
Diagnosis and Treatment of Gorham-Stout Disease in Maxillofacial Regions. ( 29309350 )
2018
6
Gorham-Stout disease of the temporal bone involving the temporomandibular joint. ( 29363434 )
2018
7
Use of zoledronic acid combined with thalidomide in the treatment of Gorham-Stout disease. ( 29554344 )
2018
8
Chylothorax From Gorham-Stout Disease. ( 29771777 )
2018
9
Temporomandibular joint anomalies in pediatric craniofacial Gorham-Stout disease. ( 29884313 )
2018
10
Gorham-Stout disease and ventricular tachycardia. ( 30070939 )
2018
11
Successful Management of Gorham-Stout Disease in Scapula and Ribs: A Case Report and Literature Review. ( 30101546 )
2018
12
A Girl with Gorham-Stout Disease. ( 30177349 )
2018
13
Sirolimus Therapy as Perioperative Treatment of Gorham-Stout Disease in the Thoracic Spine: A Case Report. ( 30211713 )
2018
14
Primary versus trauma-induced Gorham-Stout disease. ( 30248728 )
2018
15
Zoledronic acid : Treatment option for Gorham-Stout disease. ( 30280236 )
2018
16
MR imaging findings of vertebral involvement in Gorham-Stout disease, generalized lymphatic anomaly, and kaposiform lymphangiomatosis. ( 28795277 )
2017
17
Lymphangioleiomyomatosis and Gorham-Stout disease: Primary or secondary disorders of the lymphatic system? ( 30234247 )
2017
18
Gorham-Stout Disease: a Clinical Case Report and Immunological Mechanisms in Bone Erosion. ( 28004375 )
2017
19
Fourteen years follow-up of massive pelvic girdle osteolysis caused by lymphatic malformation (Gorham-Stout Disease). ( 28062382 )
2017
20
Successful Management of Gorham-Stout Disease in the Cervical Spine by Combined Conservative and Surgical Treatments: A Case Report. ( 28367856 )
2017
21
From tooth extraction to Gorham-Stout disease: A case report. ( 28384557 )
2017
22
Gorham-Stout Disease Affecting the Mandible: Bone Scintigraphy and Computed Tomography Findings. ( 28806245 )
2017
23
Gorham-Stout Disease: Hand Involvement in an 8-Year-Old Child. ( 28964427 )
2017
24
Mandibular Gorham-Stout disease: A case report and literature review. ( 29049202 )
2017
25
Two cases of Gorham-Stout disease with good response to zoledronic acid treatment. ( 29263745 )
2017
26
Gorham-Stout Disease Management during Pregnancy. ( 29263942 )
2017
27
Craniofacial CT findings of Gorham-Stout disease and generalized lymphatic anomaly. ( 27126342 )
2016
28
Clinical Features and Prognosis of Generalized Lymphatic Anomaly, Kaposiform Lymphangiomatosis, and Gorham-Stout Disease. ( 26806875 )
2016
29
Gorham-Stout disease: radiological, histological, and clinical features of 12 cases and review of literature. ( 25227772 )
2016
30
Gorham-Stout Disease of the Skull Base With Hearing Loss: Dramatic Recovery and Antiangiogenic Therapy. ( 26713883 )
2016
31
Gorham-Stout Disease Successfully Treated With Sirolimus and Zoledronic Acid Therapy. ( 26886375 )
2016
32
Novel approach of treating Gorham-Stout disease in the humerus--Case report and review of literature. ( 26914115 )
2016
33
Gorham-Stout disease of the pelvis: Seven years follow up with complete radiological evaluation. ( 26944827 )
2016
34
Pulmonary and pleural lymphatic endothelial cells from pediatric, but not adult, patients with Gorham-Stout disease and generalized lymphatic anomaly, show a high proliferation rate. ( 27194137 )
2016
35
Increased Intracranial Pressure in a Boy with Gorham-Stout Disease. ( 27194986 )
2016
36
18F-NaF and 18F-FDG PET/CT in Gorham-Stout Disease. ( 27648707 )
2016
37
Pregnancy Complicated by Gorham-Stout Disease and Refractory Chylothorax. ( 27708981 )
2016
38
Erratum: Pregnancy Complicated by Gorham-Stout Disease and Refractory Chylothorax. ( 27822433 )
2016
39
Sirolimus on Gorham-Stout disease. Case report. ( 28348444 )
2016
40
A New Case and Review of Chylothorax in Generalized Lymphatic Anomaly and Gorham-Stout Disease. ( 29906363 )
2016
41
99mTc(V)-DMSA SPECT-CT findings in a case of Gorham-Stout disease. ( 26315871 )
2015
42
Personalized Therapy for Generalized Lymphatic Anomaly/Gorham-Stout Disease With a Combination of Sunitinib and Taxol. ( 26458155 )
2015
43
Surgical management of Gorham-Stout disease of the pelvis refractory to medical and radiation therapy. ( 26566566 )
2015
44
Gorham-Stout disease of the proximal fibula treated with radiotherapy and zoledronic acid. ( 26579487 )
2015
45
Gorham-Stout disease presenting with dyspnea and bone pain in a 9-year-old girl. ( 27398124 )
2015
46
Thoracic osteotomy for Gorham-Stout disease of the spine: a case report and literature review. ( 25331037 )
2014
47
Viewpoints on vessels and vanishing bones in Gorham-Stout disease. ( 24583233 )
2014
48
Gorham-stout disease mimicking spondyloarthritis. ( 24986965 )
2014
49
Cerebrospinal fluid leakage in Gorham-Stout disease due to dura mater involvement after progression of an osteolytic lesion in the thoracic spine. ( 25325172 )
2014
50
Successful management of intractable chylothorax in Gorham-Stout disease by awake thoracoscopic surgery. ( 22865280 )
2013

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

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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