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MCID: GRH001
MIFTS: 40

Gorham's Disease

Categories: Blood diseases, Bone diseases, Rare diseases
Genes Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Gorham's Disease

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MalaCards integrated aliases for Gorham's Disease:

Name: Gorham's Disease 12 74 52 15
Gorham-Stout Syndrome 12 52
Osteolysis, Essential 43 71
Cystic Angiomatosis of Bone Diffuse 52
Disappearing Bone Disease 12
Vanishing Bone Disease 52
Gorham-Stout Disease 52
Essential Osteolysis 12
Phantom Bone Disease 12
Massive Osteolysis 12
Osteolysis Massive 52
Massive Osteolyses 71
Gorham Disease 12

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Bone diseases Blood diseases
See all MalaCards categories (disease lists)


External Ids:

Disease Ontology 12 DOID:4837
MeSH 43 D010015
SNOMED-CT 67 240161003
UMLS 71 C0029436 C0029438
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Summaries for Gorham's Disease

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NIH Rare Diseases : 52 Gorham's disease is a rare bone disorder characterized by bone loss (osteolysis), often associated abnormal blood vessel growth (angiomatous proliferation). Bone loss can occur in just one bone, or spread to soft tissue and adjacent bones. Symtoms may include pain, swelling, and increased risk of fracture. It may affect any part of the skeleton, but most commonly involves the skull, collarbone (clavicle), pelvis, ribs, spine, and/or jaw. Depending on the bones affected, various complications may occur. The cause of Gorham's disease is currently unknown. Most cases occur sporadically . Treatment is based on the signs and symptoms in each affected person, and most commonly involves surgery and/or radiation therapy . In some cases, Gorham's disease improves without treatment (spontaneous remission ).

MalaCards based summary : Gorham's Disease, also known as gorham-stout syndrome, is related to aneurysmal bone cysts and primary lymphedema. An important gene associated with Gorham's Disease is IFNA2 (Interferon Alpha 2), and among its related pathways/superpathways are PI3K-Akt signaling pathway and Pathways in cancer. The drugs Anesthetics and Mitogens have been mentioned in the context of this disorder. Affiliated tissues include bone, endothelial and spinal cord, and related phenotypes are cardiovascular system and immune system

Disease Ontology : 12 A syndrome that is characterized by bone loss (osteolysis) which is often associated with swelling or abnormal blood vessel growth (angiomatous proliferation). Bone loss can occur in just one bone or spread to soft tissue and adjacent bones.

Wikipedia : 74 Gorham's disease (pronounced GOR-amz), also known as Gorham vanishing bone disease and phantom bone... more...

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Related Diseases for Gorham's Disease

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Diseases related to Gorham's Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 250)
# Related Disease Score Top Affiliating Genes
1 aneurysmal bone cysts 30.9 TNFSF11 CALCA
2 primary lymphedema 30.5 VEGFC FLT4
3 osteomyelitis 30.4 TNFSF11 IL6 CALCA
4 lymphangioleiomyomatosis 30.3 VEGFC VEGFA PDPN
5 osteonecrosis 30.2 VEGFA TNFSF11 PTH
6 bone resorption disease 30.2 TNFSF11 PTH IL6 CALCA
7 hereditary lymphedema i 30.1 VEGFC PDPN FLT4
8 bone disease 30.1 VEGFA TNFSF11 PTH IL6 CALCA
9 hyperparathyroidism 30.0 TNFSF11 PTH CALCA
10 meningitis 29.9 VEGFA IL6 CALCA
11 hemangioma 29.1 VEGFA PECAM1 PDPN LYVE1 IFNA2 FLT4
12 osteoporosis 29.0 VEGFA TNFSF11 PTH IL6 CALCA
13 capillary hemangioma 28.7 VEGFA PECAM1 PDPN LYVE1 FLT4
14 lymphangioma 28.5 VEGFC VEGFA PECAM1 PDPN LYVE1 IL6
15 cystic angiomatosis of bone, diffuse 11.6
16 multicentric osteolysis, nodulosis, and arthropathy 11.4
17 kaposiform lymphangiomatosis 10.5
18 lymphangiomatosis 10.5
19 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
20 hemopericardium 10.4
21 pericardial effusion 10.4
22 papilledema 10.4
23 intracranial hypotension 10.4
24 chiari malformation 10.4
25 mollaret meningitis 10.4
26 rare lymphatic malformation 10.4
27 bullous impetigo 10.4 IL6 CALCA
28 mucinous cystadenocarcinoma of the pancreas 10.3 VEGFC PDPN
29 lymphatic malformation 1 10.3 VEGFC FLT4
30 paget disease of bone 5, juvenile-onset 10.3 TNFSF11 CALCA
31 periodontitis, chronic 10.3 TNFSF11 IL6
32 acute cholangitis 10.3 IL6 CALCA
33 bone giant cell sarcoma 10.3 TNFSF11 FLT4
34 orbital lymphangioma 10.3 PDPN FLT4
35 substernal goiter 10.3 PTH CALCA
36 discoid lupus erythematosus 10.3 PDPN IFNA2
37 colorectal cancer 10.3
38 migraine with or without aura 1 10.3
39 syringomyelia, noncommunicating isolated 10.3
40 kearns-sayre syndrome 10.3
41 branchiootic syndrome 1 10.3
42 scoliosis 10.3
43 sensorineural hearing loss 10.3
44 pre-eclampsia 10.3
45 cholesteatoma of middle ear 10.3
46 aseptic meningitis 10.3
47 severe pre-eclampsia 10.3
48 facial paralysis 10.3
49 optic nerve disease 10.3
50 constipation 10.3

Graphical network of the top 20 diseases related to Gorham's Disease:



Diseases related to Gorham's Disease
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Symptoms & Phenotypes for Gorham's Disease

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MGI Mouse Phenotypes related to Gorham's Disease:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.96 FLT4 GALNT3 GLMN IL6 LYVE1 PDPN
2 immune system MP:0005387 9.65 FLT4 GALNT3 IL6 LYVE1 PDPN PECAM1
3 digestive/alimentary MP:0005381 9.63 FLT4 GALNT3 IL6 PDPN PECAM1 VEGFA
4 muscle MP:0005369 9.17 FLT4 GALNT3 IL6 PDPN PECAM1 TNFSF11
Sources

Drugs & Therapeutics for Gorham's Disease

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Drugs for Gorham's Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Dynamic Contrast Enhanced MR Lymphangiogram Imaging of Lymphatic Anomalies (LA) Completed NCT02744027
2 Bone Health in Patients With Overgrowth Recruiting NCT02561182
3 Identification of Biomarkers for Patients With Vascular Anomalies Recruiting NCT03001180
4 Lymphatic Anomalies Registry for the Assessment of Outcome Data Recruiting NCT02399527

Search NIH Clinical Center for Gorham's Disease

Cochrane evidence based reviews: osteolysis, essential

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Genetic Tests for Gorham's Disease

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Anatomical Context for Gorham's Disease

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MalaCards organs/tissues related to Gorham's Disease:

40
Bone, Endothelial, Spinal Cord, Lung
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Publications for Gorham's Disease

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Articles related to Gorham's Disease:

(show top 50) (show all 150)
# Title Authors PMID Year
1
Gorham-Stout Disease: a Clinical Case Report and Immunological Mechanisms in Bone Erosion. 52
28004375 2017
2
Gorham-Stout disease with parietal bone osteolysis: a case series and review of literature. 61
32216589 2020
3
Gorham's disease: treatment with an autologous iliac bone graft and a reverse total shoulder arthroplasty. 61
30760279 2019
4
Gorham's disease of the mandible: radiological features. 61
30484126 2018
5
Cerebrospinal fluid leakage and Chiari I malformation with Gorham's disease of the skull base: A case report. 61
28743389 2017
6
A case of vanishing skull: Gorham's disease. 61
28854618 2017
7
[Management of postoperative complications in cases of Gorham's disease with cervical spine involvement: A case report]. 61
28502565 2017
8
Gorham's disease in humerus treated with autogenous vascularized fibular graft. 61
28400670 2017
9
Gorham's Disease of the Maxilla and Mandible With Distinctive Cone Beam Computerized Tomographic Features. 61
29531559 2017
10
Painful sporadic osteolysis of the parietal bone 'Gorham's disease'. 61
27331246 2016
11
Gorham's disease of mandible--a rare case presentation in pediatric patient. 61
27080971 2016
12
Novel approach of treating Gorham-Stout disease in the humerus--Case report and review of literature. 61
26914115 2016
13
Gorham's disease of the proximal tibia successfully treated with local administration of OK-432, followed by reconstruction with distraction osteogenesis: a case report. 61
26288374 2016
14
Gorham's disease-vanishing bone of the cervical spine. 61
26334233 2016
15
Gorham's Disease in a Patient with Traumatic Spinal Cord Injury: Case Report and Review of the Literature. 61
29398896 2016
16
A Rare Case of Progressive Gorham's Disease of Right Shoulder Girdle and Cervical Spine in A Child: 10 Year Follow-up and A Review of Literature. 61
27299093 2015
17
"Vanishing Bone Disease" in Maxillofacial Region: A Review and Our Experience. 61
26225043 2015
18
Reossification in Gorham's disease of the hand and wrist with unusual CT and MR imaging features. 61
25712769 2015
19
Surgical Treatment of Gorham's Disease with Massive Osteolysis of the Skull and Cervical Spine: A Case Report and Review of Literature. 61
28663971 2015
20
Complex single step skull reconstruction in Gorham's disease - a technical report and review of the literature. 61
25880917 2015
21
Gorham's disease: clinical case. 61
26229923 2015
22
[Gorham's disease (disappearing bone syndrome)]. 61
25249394 2015
23
Gorham's Disease With Chest Wall Involvement: A Case Report and a Review of the Literature. 61
25763205 2014
24
Multifocal hemangioendotheliomas of bone mimicking metastases. 61
25308018 2014
25
Serial lymphoscintigraphic findings in a patient with Gorham's disease with lymphedema. 61
25420304 2014
26
Gorham's disease: A diagnostic challenge. 61
25948997 2014
27
Abdominal lymphangiomatosis in a 38-year-old female: case report and literature review. 61
25009412 2014
28
Gastrointestinal Tract Involvement of Gorham's Disease with Expression of D2-40 in Duodenum. 61
24749089 2014
29
Unspecific, idiopathic isolated osteolysis (Gorham-Stout syndrome) of the mandibular condylar process with its radiological, histological and clinical features: a case report and review of literature. 61
23378037 2014
30
Chiari I malformation associated with Gorham's disease of the skull base. 61
24300744 2014
31
Gorham's disease. 61
24968562 2013
32
Temporary paraplegia resulting from Gorham's disease involving the third lumbar vertebra and proximal femur: a five-year follow-up and review of the literature. 61
24206415 2013
33
Gorham's Disease of Spine. 61
24066223 2013
34
Gorham's disease: the disappearing bone. 61
23486335 2013
35
Gorham's Disease complicated with bilateral chylothorax and successfully treated with Interferon-alpha-2a. 61
28920203 2013
36
Bone loss in Gorham's disease: A case study. 61
23596466 2013
37
Gorham's disease of the spine. 61
23949031 2013
38
Gorham's Disease of the Mandible. 61
24066242 2013
39
A Rare Case of Gorham's Disease: Primary Ulnar Involvement with Secondary Spread to the Radius and Elbow. 61
24350149 2013
40
An aggressive lymphatic malformation (Gorham's disease) leading to death of a child. 61
23331822 2013
41
Gorham's disease: 99mTc HMDP bone scan findings. 61
23067536 2012
42
Gorham's disease: a report of a case with mandibular involvement in a 10-year follow-up study. 61
22241873 2012
43
Radiological features of Gorham's disease. 61
22424931 2012
44
Sixty cases of extreme osteonecrosis and osteomyelitis of the mandible and maxilla in a West African population. 61
22652445 2012
45
Vanishing bone disease (Gorham's disease) - a rare occurrence of unknown etiology. 61
23032845 2012
46
[Gorham's disease and intra-osseous vascular abnormalities]. 61
22504738 2012
47
Gorham's disease of femur - A response. 61
22719130 2012
48
Progressive, massive osteolysis of mandible (Gorham's disease): report of a case. 61
22605602 2012
49
Gorham's disease of femur. 61
22144753 2011
50
Gorham's disease: diagnostic utility of an autopsy for a rare bone disease. 61
22018430 2011
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Variations for Gorham's Disease

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Expression for Gorham's Disease

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Search GEO for disease gene expression data for Gorham's Disease.
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Pathways for Gorham's Disease

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Pathways related to Gorham's Disease according to GeneCards Suite gene sharing:

(show all 13)
# Super pathways Score Top Affiliating Genes
1
PI3K-Akt signaling pathway 36
Show member pathways
 12.69 VEGFC VEGFA IL6 IFNA2 FLT4
2
Pathways in cancer 36
12.49 VEGFC VEGFA IL6 IFNA2 FLT4
3
Immune response IFN alpha/beta signaling pathway 22
Show member pathways
 12.01 VEGFC IL6 IFNA2 FLT4
4
AGE-RAGE signaling pathway in diabetic complications 36
11.65 VEGFC VEGFA IL6
5
Signaling events mediated by VEGFR1 and VEGFR2 1
Show member pathways
 11.57 VEGFC VEGFA FLT4
6
Rheumatoid arthritis 36
11.53 VEGFA TNFSF11 PTH IL6
7
Angiogenesis (CST) 4
11.41 VEGFC PECAM1 PDPN FLT4
8
Differentiation Pathway 1
11.18 VEGFA TNFSF11 IL6
9
VEGFR3 signaling in lymphatic endothelium 1
10.89 VEGFC FLT4
10
Osteoblast Signaling 1
10.66 TNFSF11 PTH
11
Transcription_Role of VDR in regulation of genes involved in osteoporosis 22
10.58 TNFSF11 PTH IL6 CALCA
12
miR-148a/miR-31/FIH1/HIF1andalpha;-Notch signaling in glioblastoma 1
10.36 VEGFC VEGFA
13
VEGF binds to VEGFR leading to receptor dimerization 65
Show member pathways
 10.34 VEGFC VEGFA FLT4
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GO Terms for Gorham's Disease

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Cellular components related to Gorham's Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.56 VEGFC VEGFA TNFSF11 PTH IL6 IFNA2
2 extracellular space GO:0005615 9.23 VEGFC VEGFA TNFSF11 PTH PECAM1 IL6

Biological processes related to Gorham's Disease according to GeneCards Suite gene sharing:

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 cytokine-mediated signaling pathway GO:0019221 9.84 VEGFA TNFSF11 IL6 IFNA2
2 angiogenesis GO:0001525 9.8 VEGFC VEGFA PECAM1 FLT4
3 platelet degranulation GO:0002576 9.77 VEGFC VEGFA PECAM1
4 positive regulation of cell migration GO:0030335 9.76 VEGFC VEGFA PECAM1 PDPN
5 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.74 VEGFA PECAM1 IL6
6 Rho protein signal transduction GO:0007266 9.69 PTH PECAM1 PDPN
7 positive regulation of protein phosphorylation GO:0001934 9.67 VEGFC VEGFA PECAM1 FLT4
8 positive regulation of endothelial cell proliferation GO:0001938 9.65 VEGFC VEGFA FLT4
9 bone resorption GO:0045453 9.62 TNFSF11 PTH
10 positive regulation of protein autophosphorylation GO:0031954 9.62 VEGFC VEGFA
11 positive regulation of neuroblast proliferation GO:0002052 9.61 VEGFC VEGFA
12 mammary gland alveolus development GO:0060749 9.61 VEGFA TNFSF11
13 negative regulation of bone resorption GO:0045779 9.59 IL6 CALCA
14 induction of positive chemotaxis GO:0050930 9.58 VEGFC VEGFA
15 lymphangiogenesis GO:0001946 9.58 PDPN FLT4
16 vascular endothelial growth factor receptor signaling pathway GO:0048010 9.58 VEGFC VEGFA FLT4
17 positive regulation of protein kinase C signaling GO:0090037 9.56 VEGFA FLT4
18 positive regulation of cellular component movement GO:0051272 9.55 VEGFA PDPN
19 positive regulation of extracellular matrix disassembly GO:0090091 9.52 PDPN IL6
20 monocyte chemotaxis GO:0002548 9.5 TNFSF11 IL6 CALCA
21 positive regulation of mast cell chemotaxis GO:0060754 9.43 VEGFC VEGFA
22 sprouting angiogenesis GO:0002040 9.43 VEGFC VEGFA FLT4
23 positive regulation of phosphorylation GO:0042327 9.33 TNFSF11 IFNA2 GLMN
24 vascular endothelial growth factor signaling pathway GO:0038084 9.13 VEGFC VEGFA FLT4
25 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 8.92 VEGFA PECAM1 IL6 IFNA2

Molecular functions related to Gorham's Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 growth factor activity GO:0008083 9.33 VEGFC VEGFA IL6
2 cytokine activity GO:0005125 9.26 VEGFA TNFSF11 IL6 IFNA2
3 vascular endothelial growth factor receptor binding GO:0005172 8.62 VEGFC VEGFA
Sources

Sources for Gorham's Disease

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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
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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