MCID: GRH001
MIFTS: 43

Gorham's Disease

Categories: Blood diseases, Bone diseases, Rare diseases
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Aliases & Classifications for Gorham's Disease

MalaCards integrated aliases for Gorham's Disease:

Name: Gorham's Disease 11 19 75 14
Gorham-Stout Syndrome 11 19
Osteolysis, Essential 43 71
Cystic Angiomatosis of Bone Diffuse 19
Disappearing Bone Disease 11
Vanishing Bone Disease 19
Gorham-Stout Disease 19
Essential Osteolysis 11
Phantom Bone Disease 11
Massive Osteolysis 11
Osteolysis Massive 19
Massive Osteolyses 71
Gorham Disease 11

Classifications:



External Ids:

Disease Ontology 11 DOID:4837
MeSH 43 D010015
SNOMED-CT 68 240161003
UMLS 71 C0029436 C0029438

Summaries for Gorham's Disease

GARD: 19 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.

MalaCards based summary: Gorham's Disease, also known as gorham-stout syndrome, is related to bone disease and parathyroid gland disease. An important gene associated with Gorham's Disease is IFNA2 (Interferon Alpha 2), and among its related pathways/superpathways are Signal Transduction and TGF-Beta Pathway. The drugs Anesthetics and Endothelial Growth Factors have been mentioned in the context of this disorder. Affiliated tissues include bone, endothelial and spinal cord, and related phenotypes are homeostasis/metabolism and cardiovascular system

Disease Ontology: 11 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: 75 Gorham's disease (pronounced GOR-amz), also known as Gorham vanishing bone disease and phantom bone... more...

Related Diseases for Gorham's Disease

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

(show top 50) (show all 312)
# Related Disease Score Top Affiliating Genes
1 bone disease 30.8 TNFSF11 PTH IL6 CALCA
2 parathyroid gland disease 30.4 TNFSF11 PTH CALCA
3 meningitis 30.4 VEGFA IL6 CALCA
4 osteomyelitis 30.3 TNFSF11 IL6 CALCA
5 spondyloarthropathy 1 30.3 TNFSF11 PTH IL6
6 bone resorption disease 30.1 TNFSF11 PTH IL6 CALCA
7 hyperparathyroidism 30.0 TNFSF11 PTH CALCA
8 primary lymphedema 30.0 VEGFD VEGFC FLT4
9 primary hyperparathyroidism 30.0 TNFSF11 PTH CALCA
10 lymphangioleiomyomatosis 29.9 VEGFD VEGFC VEGFA PDPN
11 decubitus ulcer 29.8 VEGFA PECAM1 IL6
12 osteonecrosis 29.7 VEGFA PTH PECAM1
13 cerebral cavernous malformations 29.7 PROX1 PIK3CA PECAM1
14 generalized lymphatic anomaly 29.6 VEGFD VEGFC PROX1 PIK3CA PECAM1 LYVE1
15 vascular cancer 29.4 VEGFA PECAM1 IFNA2 FLT4
16 osteoporosis 29.3 VEGFA TNFSF11 PTH IL6 CALCA
17 aortic aneurysm, familial abdominal, 1 29.3 VEGFA PECAM1 IL6
18 myeloma, multiple 29.2 VEGFA TNFSF11 PIK3CA IL6 IFNA2
19 klippel-trenaunay-weber syndrome 29.1 VEGFA PROX1 PIK3CA PECAM1 FLT4
20 capillary hemangioma 29.1 VEGFA PROX1 PECAM1 FLT4
21 hereditary lymphedema i 29.1 VEGFD VEGFC PROX1 PDPN LYVE1 FLT4
22 lymphangioma 28.4 VEGFC VEGFA PROX1 PIK3CA PECAM1 PDPN
23 hemangioma 28.2 VEGFC VEGFA PROX1 PECAM1 PDPN LYVE1
24 multicentric osteolysis, nodulosis, and arthropathy 11.1
25 cystic angiomatosis of bone, diffuse 10.6
26 cerebrospinal fluid leak 10.5
27 lymphatic system disease 10.5
28 otorrhea 10.4
29 kaposiform lymphangiomatosis 10.4
30 lymphangiomatosis 10.4
31 congenital hemidysplasia with ichthyosiform erythroderma and limb defects 10.4
32 intracranial hypotension 10.4
33 children's interstitial lung disease 10.4
34 rare lymphatic malformation 10.3
35 neural tube defects 10.3
36 meningocele 10.3
37 pericardial effusion 10.3
38 papilledema 10.3
39 chiari malformation 10.3
40 overgrowth syndrome 10.3
41 tetanic cataract 10.3 PTH CALCA
42 paget disease of bone 5, juvenile-onset 10.3 TNFSF11 CALCA
43 substernal goiter 10.3 PTH CALCA
44 kohler's disease 10.3 PTH CALCA
45 telangiectatic osteogenic sarcoma 10.3 TNFSF11 CALCA
46 isthmus cancer 10.2 PTH CALCA
47 periodontitis, chronic 10.2 TNFSF11 IL6
48 malignant ciliary body melanoma 10.2 PROX1 LYVE1
49 ciliary body cancer 10.2 PROX1 LYVE1
50 hypervitaminosis d 10.2 PTH CALCA

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



Diseases related to Gorham's Disease

Symptoms & Phenotypes for Gorham's Disease

MGI Mouse Phenotypes related to Gorham's Disease:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.18 CALCA FLT4 IL6 PDPN PECAM1 PIK3CA
2 cardiovascular system MP:0005385 10.1 CALCA FLT4 IL6 LYVE1 PDPN PECAM1
3 immune system MP:0005387 10.07 FLT4 IFNA2 IL6 LYVE1 PDPN PECAM1
4 muscle MP:0005369 10.03 FLT4 IL6 PDPN PECAM1 PIK3CA PROX1
5 normal MP:0002873 10 CALCA FLT4 IFNA2 PROX1 TNFSF11 VEGFA
6 neoplasm MP:0002006 9.95 CALCA IL6 PIK3CA TNFSF11 VEGFA VEGFD
7 digestive/alimentary MP:0005381 9.91 FLT4 IL6 PDPN PECAM1 PIK3CA PROX1
8 respiratory system MP:0005388 9.76 CALCA IFNA2 IL6 PDPN PECAM1 PROX1
9 skeleton MP:0005390 9.56 CALCA IL6 PDPN PECAM1 PIK3CA PTH
10 mortality/aging MP:0010768 9.36 CALCA FLT4 IL6 PDPN PIK3CA PROX1

Drugs & Therapeutics for Gorham's Disease

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 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 Gorham's Disease

Cochrane evidence based reviews: osteolysis, essential

Genetic Tests for Gorham's Disease

Anatomical Context for Gorham's Disease

Organs/tissues related to Gorham's Disease:

MalaCards : Bone, Endothelial, Spinal Cord, Bone Marrow, Skin, Thyroid, Lung

Publications for Gorham's Disease

Articles related to Gorham's Disease:

(show top 50) (show all 745)
# Title Authors PMID Year
1
Characterization of Extracellular Vesicles in Osteoporotic Patients Compared to Osteopenic and Healthy Controls. 62
36053959 2022
2
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
3
A case of restitution ad integrum in Gorham-Stout disease. 62
36332892 2022
4
[Complicated lymphatic anomaly: a clinicopathological analysis of four cases]. 62
36323545 2022
5
Vascular Anomaly Syndromes in the ISSVA Classification System: Imaging Findings and Role of Interventional Radiology in Management. 62
36190850 2022
6
EBRA Migration Analysis of a Modular, Distally Fixed Stem in Hip Revision Arthroplasty: A Clinical and Radiological Study. 62
36233724 2022
7
Difficult Therapeutic Decisions in Gorham-Stout Disease-Case Report and Review of the Literature. 62
36141975 2022
8
Gorham-Stout disease, a diagnosis of exclusion. 62
35814817 2022
9
How we approach the diagnosis and management of complex lymphatic anomalies. 62
33844431 2022
10
Dynamic Contrast-Enhanced Magnetic Resonance Lymphangiography and Lymphatic Interventions for Pediatric Patients with Various Lymphatic Diseases. 62
35984923 2022
11
Embolism After Injection of a Calcium Sulfate Bone Graft Substitute: A Case Report. 62
36137174 2022
12
When "milky fluid" was aspirated from the bone: Gorham-Stout syndrome-A report of a rare entity. 62
35899433 2022
13
Molecular Mechanisms Driving Lymphedema and Other Lymphatic Anomalies. 62
35817543 2022
14
Inflammatory tissue reactions around aseptically loose cemented hip prostheses: A retrieval study of the Spectron EF stem with Reflection All-Poly acetabular cup. 62
35099116 2022
15
"A case of vanishing bone disease complicated by chylothorax- diagnosis and treatment". 62
35774987 2022
16
Spouting Chylothorax in Gorham-Stout Disease. 62
35104434 2022
17
Lymphatic Anomalies in Children: Update on Imaging Diagnosis, Genetics, and Treatment. 62
35043669 2022
18
Gorham-Stout disease with life-threatening pleural effusion treated with a pleuro-peritoneal shunt: a case report. 62
35642669 2022
19
Gorham-Stout case report: a multi-omic analysis reveals recurrent fusions as new potential drivers of the disease. 62
35668402 2022
20
Gorham-Stout disease of skull base leading to cranial settling and rhinorrhea: a case-based review. 62
35217940 2022
21
Vanishing Lymphocytes in a Case of Vanishing Bone Disease. 62
35089478 2022
22
Refractory serositis in Gorham-Stout syndrome. 62
35379268 2022
23
Non-secretory myeloma in young man mimicking the Gorham disease: case report and the literature review. 62
34610233 2022
24
Vanishing Bone Disease of the Thoracic Cage: Challenges in the Management of a Rare Entity. 62
35415229 2022
25
The importance of computed tomography (CT) scans in the early diagnosis of Gorham-Stout Disease - A case report. 62
34950281 2022
26
Gorham Stout disease of the temporal bone with cerebrospinal fluid leak. 62
34115176 2022
27
Gorham-Stout syndrome mimicking a malignant bone tumor in two adult cases. 62
34585240 2022
28
Surgical treatment of severe thoracic kyphosis and neurological deficit in a patient with Gorham-Stout syndrome: A case report and literature review. 62
36003281 2022
29
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
30
Idiopathic focal calvarial thinning: A case report. 62
36447892 2022
31
A Case of Gorham-Stout Disease of the Skull Base Treated With Intensity Modulated Radiation Therapy. 62
34729445 2022
32
Gorham-Stout disease: A multirod lumbar reconstruction with off-label suppression-remission therapy. 62
35509593 2022
33
Bacterial meningitis due to the Streptococcus mitis group in children with cerebrospinal fluid leak. 62
35145856 2022
34
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
35
[Unilateral subjective tinnitus «vanishing bone» disease (Goram-Stout syndrome).] 62
36404698 2022
36
Current concepts from diagnosis to management in Gorham-Stout disease: a systematic narrative review of about 350 cases. 62
35076412 2022
37
Complication rates following all-epiphyseal ACL reconstructions in skeletally immature patients: A retrospective case series study. 62
34964784 2021
38
Cerebrospinal fluid-lymphatic fistula causing spontaneous intracranial hypotension in a child with kaposiform lymphangiomatosis. 62
34286352 2021
39
Massive osteolysis in a patient with Gorham-Stout syndrome. 62
34625153 2021
40
Surgical treatment of a patient with Gorham-Stout disease of craniovertebral junction: case report and literature review. 62
34585642 2021
41
A narrative review of the role of sirolimus in the treatment of congenital vascular malformations. 62
33737259 2021
42
Severe adverse events during sirolimus "off-label" therapy for vascular anomalies. 62
33580918 2021
43
A Case of Gorham-Stout Disease Treated with Fistula Closure by Transmeatal Approach. 62
34434067 2021
44
KRAS-driven model of Gorham-Stout disease effectively treated with trametinib. 62
34156985 2021
45
The loneliness of a long-distance runner. A ten-year survey of a patient diagnosed with Gorham-Stout syndrome at the occipitocervical junction. 62
34414839 2021
46
Young adult with Gorham's disease presenting in an emergency department: a case report. 62
34399846 2021
47
Gorham's disease of the maxilla - A rare case report with literature overview. 62
34007397 2021
48
Imaging Spectrum of Calvarial Abnormalities. 62
34197249 2021
49
Radiographic extent of maxillofacial Gorham's disease and its impact on recurrence: A systematic review. 62
34020915 2021
50
Gorham-Stout Disease with Multiple Bone Involvement-Challenging Diagnosis of a Rare Disease and Literature Review. 62
34356962 2021

Variations for Gorham's Disease

Expression for Gorham's Disease

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

Pathways for Gorham's Disease

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

(show all 31)
# Super pathways Score Top Affiliating Genes
1 13.64 VEGFD VEGFC VEGFA PTH PIK3CA IL6
2
Show member pathways
13.41 VEGFD VEGFC VEGFA PIK3CA IL6 IFNA2
3
Show member pathways
13.14 IFNA2 PDPN PECAM1 PIK3CA VEGFA VEGFC
4 12.72 VEGFD VEGFC VEGFA PIK3CA FLT4
5
Show member pathways
12.72 VEGFD VEGFC VEGFA PIK3CA IL6 IFNA2
6
Show member pathways
12.57 VEGFD VEGFC IL6 FLT4
7 12.49 FLT4 IL6 PIK3CA VEGFA VEGFC VEGFD
8
Show member pathways
12.48 VEGFD VEGFC PIK3CA IL6 IFNA2 FLT4
9
Show member pathways
12.31 VEGFD VEGFC VEGFA PIK3CA FLT4
10
Show member pathways
12.3 VEGFD VEGFC VEGFA FLT4
11
Show member pathways
12.26 VEGFD VEGFC PIK3CA IL6 FLT4
12 12.16 VEGFD VEGFC VEGFA PIK3CA
13
Show member pathways
12.15 VEGFD VEGFC VEGFA PIK3CA FLT4
14 11.94 VEGFA PROX1 IL6
15 11.8 VEGFC VEGFA IL6
16 11.68 TNFSF11 PTH IL6 CALCA
17 11.63 VEGFA PECAM1 IL6 IFNA2
18 11.57 TNFSF11 PIK3CA IL6
19 11.5 VEGFA PIK3CA IL6
20 11.5 VEGFC PROX1 PECAM1 PDPN FLT4
21 11.49 VEGFD VEGFC VEGFA
22 11.42 VEGFA TNFSF11 IL6
23 11.38 TNFSF11 PIK3CA IL6
24 11.28 TNFSF11 PTH IL6 CALCA
25 11.08 VEGFD VEGFC VEGFA
26 10.99 PTH CALCA
27 10.99 VEGFD VEGFC VEGFA IL6
28 10.91 FLT4 IL6 TNFSF11 VEGFC VEGFD
29 10.64 VEGFD VEGFC PIK3CA FLT4
30
Show member pathways
10.59 VEGFC VEGFA
31
Show member pathways
10.13 VEGFD VEGFC VEGFA FLT4

GO Terms for Gorham's Disease

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 10.11 VEGFD VEGFC VEGFA TNFSF11 PTH IL6
2 extracellular space GO:0005615 9.58 VEGFD VEGFC VEGFA TNFSF11 PTH PECAM1
3 platelet alpha granule lumen GO:0031093 9.43 VEGFA VEGFC VEGFD

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

(show all 26)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell population proliferation GO:0008284 10.31 FLT4 IL6 PROX1 VEGFA VEGFC VEGFD
2 positive regulation of cell migration GO:0030335 10.13 VEGFC VEGFA PECAM1 PDPN FLT4
3 positive regulation of protein phosphorylation GO:0001934 10.13 FLT4 PECAM1 VEGFA VEGFC VEGFD
4 angiogenesis GO:0001525 10.1 FLT4 PIK3CA VEGFA VEGFC VEGFD
5 activation of protein kinase activity GO:0032147 10.08 VEGFA PIK3CA CALCA
6 positive regulation of endothelial cell migration GO:0010595 10.08 VEGFA PROX1 FLT4
7 platelet activation GO:0030168 10.07 PIK3CA PDPN IL6
8 positive regulation of cell division GO:0051781 10.04 VEGFD VEGFC VEGFA
9 monocyte chemotaxis GO:0002548 10.03 TNFSF11 IL6 CALCA
10 positive chemotaxis GO:0050918 10.02 VEGFD VEGFC VEGFA
11 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 10.01 VEGFA IL6 IFNA2
12 positive regulation of platelet aggregation GO:1901731 9.93 PDPN IL6
13 positive regulation of protein kinase C signaling GO:0090037 9.92 VEGFA FLT4
14 sprouting angiogenesis GO:0002040 9.92 FLT4 VEGFA VEGFC VEGFD
15 positive regulation of extracellular matrix disassembly GO:0090091 9.88 PDPN IL6
16 hepatocyte proliferation GO:0072574 9.88 IL6 PROX1
17 induction of positive chemotaxis GO:0050930 9.88 VEGFD VEGFC VEGFA
18 vasculature development GO:0001944 9.85 PIK3CA FLT4 CALCA
19 lymphangiogenesis GO:0001946 9.85 PROX1 PDPN FLT4
20 lymphatic endothelial cell fate commitment GO:0060838 9.83 PROX1 PDPN
21 lymph vessel development GO:0001945 9.8 PROX1 FLT4
22 vascular endothelial growth factor receptor signaling pathway GO:0048010 9.76 VEGFD VEGFC VEGFA FLT4
23 positive regulation of mast cell chemotaxis GO:0060754 9.73 VEGFD VEGFC VEGFA
24 positive regulation of phosphorylation GO:0042327 9.69 VEGFA TNFSF11 FLT4
25 positive regulation of endothelial cell proliferation GO:0001938 9.65 VEGFD VEGFC VEGFA PROX1 FLT4
26 vascular endothelial growth factor signaling pathway GO:0038084 9.32 VEGFD VEGFC VEGFA PIK3CA FLT4

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

# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 9.97 VEGFA TNFSF11 IL6 IFNA2
2 growth factor activity GO:0008083 9.92 VEGFD VEGFC VEGFA IL6
3 chemoattractant activity GO:0042056 9.73 VEGFD VEGFC VEGFA
4 vascular endothelial growth factor receptor 3 binding GO:0043185 9.46 VEGFD VEGFC
5 receptor ligand activity GO:0048018 9.43 VEGFD VEGFC VEGFA PTH
6 vascular endothelial growth factor receptor binding GO:0005172 9.1 VEGFD VEGFC VEGFA

Sources for Gorham's Disease

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
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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