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MCID: CYS041
MIFTS: 31

Cystic Angiomatosis of Bone, Diffuse

Categories: Bone diseases, Cardiovascular diseases, Fetal diseases, Rare diseases
Tissues Related diseases Publications Symptoms & Phenotypes Drugs
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Aliases & Classifications for Cystic Angiomatosis of Bone, Diffuse

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MalaCards integrated aliases for Cystic Angiomatosis of Bone, Diffuse:

Name: Cystic Angiomatosis of Bone, Diffuse 58
Gorham-Stout Disease 58 60
Progressive Massive Osteolysis 60
Idiopathic Massive Osteolysis 60
Gorham-Stout Disease; Gsd 58
Vanishing Bone Disease 60
Osteolysis, Massive 58
Massive Osteolyses 74
Gorham Syndrome 60
Gorham Disease 60
Gsd 58

Characteristics:

Orphanet epidemiological data:

60
gorham-stout disease
Inheritance: Not applicable; Age of onset: All ages; Age of death: adolescent,adult,early childhood,elderly,late childhood,young Adult;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
cystic angiomatosis of bone, diffuse:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Fetal diseases Rare diseases
Anatomical: Cardiovascular diseases Bone diseases
See all MalaCards categories (disease lists)
ICD10: 35
Orphanet: 60  
Rare circulatory system diseases
Rare systemic and rhumatological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 58 123880
ICD10 via Orphanet 35 M89.5
UMLS via Orphanet 75 C0029438
Orphanet 60 ORPHA73
MedGen 43 C0029438
SNOMED-CT via HPO 70 263681008
UMLS 74 C0029438
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Summaries for Cystic Angiomatosis of Bone, Diffuse

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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, liver and endothelial, and related phenotype is cystic angiomatosis of bone.

Description from OMIM: 123880
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Related Diseases for Cystic Angiomatosis of Bone, Diffuse

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

(show top 50) (show all 66)
# Related Disease Score Top Affiliating Genes
1 glycogen storage disease iv 12.3
2 glycogen storage disease ia 12.0
3 glycogen storage disease iii 12.0
4 glycogen storage disease, type ixd 11.9
5 glycogen storage disease 0, liver 11.9
6 glycogen storage disease vi 11.9
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 11.8
11 gerstmann-straussler disease 11.8
12 glycogen storage disease ib 11.7
13 glycogen storage disease ic 11.7
14 phosphorylase kinase deficiency 11.6
15 glycogen storage disease ixc 11.5
16 gorham's disease 11.5
17 glycogen storage disease due to glucose-6-phosphatase deficiency 11.5
18 glycogen storage disease 11.5
19 glycogen storage disease ii 11.4
20 glycogen storage disease ixb 11.4
21 fanconi-bickel syndrome 11.3
22 muscular phosphorylase kinase deficiency 11.3
23 glycogen storage disease xii 11.3
24 glycogen storage disease xv 11.3
25 glycogen storage disease due to liver phosphorylase kinase deficiency 11.3
26 glycogen storage disease x 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 11.1
35 congenital disorder of glycosylation, type it 11.1
36 glycogen storage disease ixa 11.1
37 glutathione synthetase deficiency 11.0
38 phosphoglycerate kinase 1 deficiency 10.9
39 lactate dehydrogenase b deficiency 10.9
40 phosphoglycerate mutase deficiency 10.9
41 glycogen storage disease due to lactate dehydrogenase deficiency 10.9
42 kaposiform lymphangiomatosis 10.4
43 lymphangiomatosis 10.4
44 lymphatic malformations 10.4
45 lymphangioleiomyomatosis 10.3
46 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
47 bone disease 10.3
48 bone resorption disease 10.3
49 osteomyelitis 10.3
50 lateral medullary syndrome 10.3

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



Diseases related to Cystic Angiomatosis of Bone, Diffuse
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Symptoms & Phenotypes for Cystic Angiomatosis of Bone, Diffuse

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Human phenotypes related to Cystic Angiomatosis of Bone, Diffuse:

33
# Description HPO Frequency HPO Source Accession
1 cystic angiomatosis of bone 33 HP:0002833

Symptoms via clinical synopsis from OMIM:

58
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
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Drugs & Therapeutics for Cystic Angiomatosis of Bone, Diffuse

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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

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Genetic Tests for Cystic Angiomatosis of Bone, Diffuse

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Anatomical Context for Cystic Angiomatosis of Bone, Diffuse

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

42
Bone, Liver, Endothelial, Kidney, Heart
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Publications for Cystic Angiomatosis of Bone, Diffuse

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Articles related to Cystic Angiomatosis of Bone, Diffuse:

(show top 50) (show all 81)
# Title Authors Year
1
Fatal Progression of Gorham-Stout Disease with Skull Base Osteomyelitis and Lateral Medullary Syndrome. ( 30799352 )
2019
2
A Child with Early-Onset Gorham-Stout Disease Complicated by Chylothorax: Near-Complete Regression of Bone Lesions with Interferon and Bisphosphonate Treatment. ( 30630178 )
2019
3
Efficacy of systemic sirolimus in the treatment of generalized lymphatic anomaly and Gorham-Stout disease. ( 30672136 )
2019
4
Gorham-Stout disease with involvement of the jaws: a systematic review. ( 30898430 )
2019
5
99mTc-SC lymphoscintigraphy and SPECT/CT findings in a case report of Gorham-Stout disease presenting with chylothorax and bone pain. ( 30946335 )
2019
6
Chylothorax as a debut form of Gorham-Stout disease. ( 31000442 )
2019
7
Intracranial hypotension and hypertension: reversible Chiari malformation due to dynamic cerebrospinal fluid abnormalities in Gorham-Stout disease. Case report. ( 30074451 )
2018
8
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
9
Gorham-Stout Disease Presenting as Acute Unilateral Proptosis. ( 28837441 )
2018
10
Vanishing Act: Gorham-Stout Disease Leading to Dynamic Cerebrospinal Fluid Abnormalities. ( 29016411 )
2018
11
Diagnosis and Treatment of Gorham-Stout Disease in Maxillofacial Regions. ( 29309350 )
2018
12
Gorham-Stout disease of the temporal bone involving the temporomandibular joint. ( 29363434 )
2018
13
Use of zoledronic acid combined with thalidomide in the treatment of Gorham-Stout disease. ( 29554344 )
2018
14
Chylothorax From Gorham-Stout Disease. ( 29771777 )
2018
15
Temporomandibular joint anomalies in pediatric craniofacial Gorham-Stout disease. ( 29884313 )
2018
16
Gorham-Stout disease and ventricular tachycardia. ( 30070939 )
2018
17
Successful Management of Gorham-Stout Disease in Scapula and Ribs: A Case Report and Literature Review. ( 30101546 )
2018
18
A Girl with Gorham-Stout Disease. ( 30177349 )
2018
19
Sirolimus Therapy as Perioperative Treatment of Gorham-Stout Disease in the Thoracic Spine: A Case Report. ( 30211713 )
2018
20
Primary versus trauma-induced Gorham-Stout disease. ( 30248728 )
2018
21
Zoledronic acid : Treatment option for Gorham-Stout disease. ( 30280236 )
2018
22
Thoracic osteotomy for Gorham-Stout disease of the spine: a case report and literature review. ( 25331037 )
2018
23
From tooth extraction to Gorham-Stout disease: A case report. ( 28384557 )
2017
24
Gorham-Stout Disease Affecting the Mandible: Bone Scintigraphy and Computed Tomography Findings. ( 28806245 )
2017
25
Gorham-Stout Disease: Hand Involvement in an 8-Year-Old Child. ( 28964427 )
2017
26
Mandibular Gorham-Stout disease: A case report and literature review. ( 29049202 )
2017
27
Two cases of Gorham-Stout disease with good response to zoledronic acid treatment. ( 29263745 )
2017
28
Gorham-Stout Disease Management during Pregnancy. ( 29263942 )
2017
29
Lymphangioleiomyomatosis and Gorham-Stout disease: Primary or secondary disorders of the lymphatic system? ( 30234247 )
2017
30
MR imaging findings of vertebral involvement in Gorham-Stout disease, generalized lymphatic anomaly, and kaposiform lymphangiomatosis. ( 28795277 )
2017
31
Successful Management of Gorham-Stout Disease in the Cervical Spine by Combined Conservative and Surgical Treatments: A Case Report. ( 28367856 )
2017
32
Fourteen years follow-up of massive pelvic girdle osteolysis caused by lymphatic malformation (Gorham-Stout Disease). ( 28062382 )
2017
33
Gorham-Stout Disease: a Clinical Case Report and Immunological Mechanisms in Bone Erosion. ( 28004375 )
2017
34
Clinical Features and Prognosis of Generalized Lymphatic Anomaly, Kaposiform Lymphangiomatosis, and Gorham-Stout Disease. ( 26806875 )
2016
35
Gorham-Stout disease of the pelvis: Seven years follow up with complete radiological evaluation. ( 26944827 )
2016
36
Novel approach of treating Gorham-Stout disease in the humerus--Case report and review of literature. ( 26914115 )
2016
37
Gorham-Stout Disease Successfully Treated With Sirolimus and Zoledronic Acid Therapy. ( 26886375 )
2016
38
Gorham-Stout Disease of the Skull Base With Hearing Loss: Dramatic Recovery and Antiangiogenic Therapy. ( 26713883 )
2016
39
Gorham-Stout disease: radiological, histological, and clinical features of 12 cases and review of literature. ( 25227772 )
2016
40
A New Case and Review of Chylothorax in Generalized Lymphatic Anomaly and Gorham-Stout Disease. ( 29906363 )
2016
41
Sirolimus on Gorham-Stout disease. Case report. ( 28348444 )
2016
42
Erratum: Pregnancy Complicated by Gorham-Stout Disease and Refractory Chylothorax. ( 27822433 )
2016
43
Pregnancy Complicated by Gorham-Stout Disease and Refractory Chylothorax. ( 27708981 )
2016
44
18F-NaF and 18F-FDG PET/CT in Gorham-Stout Disease. ( 27648707 )
2016
45
Increased Intracranial Pressure in a Boy with Gorham-Stout Disease. ( 27194986 )
2016
46
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
47
Craniofacial CT findings of Gorham-Stout disease and generalized lymphatic anomaly. ( 27126342 )
2016
48
Gorham-Stout disease of the proximal fibula treated with radiotherapy and zoledronic acid. ( 26579487 )
2015
49
Surgical management of Gorham-Stout disease of the pelvis refractory to medical and radiation therapy. ( 26566566 )
2015
50
Personalized Therapy for Generalized Lymphatic Anomaly/Gorham-Stout Disease With a Combination of Sunitinib and Taxol. ( 26458155 )
2015
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Variations for Cystic Angiomatosis of Bone, Diffuse

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Expression for Cystic Angiomatosis of Bone, Diffuse

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

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GO Terms for Cystic Angiomatosis of Bone, Diffuse

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Sources for Cystic Angiomatosis of Bone, Diffuse

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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