MCID: GRH001
MIFTS: 39

Gorham's Disease

Categories: Blood diseases, Bone diseases, Rare diseases

Aliases & Classifications for Gorham's Disease

MalaCards integrated aliases for Gorham's Disease:

Name: Gorham's Disease 12 73 20 15
Gorham-Stout Syndrome 12 20
Osteolysis, Essential 44 70
Cystic Angiomatosis of Bone Diffuse 20
Disappearing Bone Disease 12
Vanishing Bone Disease 20
Gorham-Stout Disease 20
Essential Osteolysis 12
Phantom Bone Disease 12
Massive Osteolysis 12
Osteolysis Massive 20
Massive Osteolyses 70
Gorham Disease 12

Classifications:



External Ids:

Disease Ontology 12 DOID:4837
MeSH 44 D010015
SNOMED-CT 67 240161003
UMLS 70 C0029436 C0029438

Summaries for Gorham's Disease

GARD : 20 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 lymphangioleiomyomatosis. 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 homeostasis/metabolism

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 : 73 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 265)
# Related Disease Score Top Affiliating Genes
1 aneurysmal bone cysts 30.6 TNFSF11 CALCA
2 lymphangioleiomyomatosis 30.4 VEGFC VEGFA PDPN
3 bone disease 30.3 VEGFA TNFSF11 PTH IL6 CALCA
4 primary lymphedema 30.3 VEGFC FLT4
5 osteomyelitis 30.3 TNFSF11 IL6 CALCA
6 bone resorption disease 30.2 TNFSF11 PTH IL6 CALCA
7 osteonecrosis 30.1 VEGFA TNFSF11 PTH
8 hyperparathyroidism 30.0 TNFSF11 PTH CALCA
9 hereditary lymphedema i 29.9 VEGFC PDPN FLT4
10 enthesopathy 29.8 PTH GALNT3
11 decubitus ulcer 29.7 VEGFA PECAM1 IL6 CALCA
12 osteoporosis 29.3 VEGFA TNFSF11 PTH IL6 CALCA
13 lymphangioma 29.2 VEGFC VEGFA PECAM1 PDPN LYVE1 IFNA2
14 hemangioma 28.9 VEGFA PECAM1 PDPN LYVE1 IL6 IFNA2
15 capillary hemangioma 28.9 VEGFA PECAM1 PDPN LYVE1 FLT4
16 multicentric osteolysis, nodulosis, and arthropathy 11.1
17 lymphangiomatosis 10.4
18 intracranial hypotension 10.4
19 kaposiform lymphangiomatosis 10.4
20 bullous impetigo 10.3 IL6 CALCA
21 lymphocele 10.3 VEGFC LYVE1
22 rare lymphatic malformation 10.3
23 acute cholangitis 10.3 IL6 CALCA
24 kummell's disease 10.3 TNFSF11 CALCA
25 paget disease of bone 5, juvenile-onset 10.3 TNFSF11 CALCA
26 hemopericardium 10.3
27 pericardial effusion 10.3
28 papilledema 10.3
29 chiari malformation 10.3
30 mollaret meningitis 10.3
31 overgrowth syndrome 10.3
32 bursitis 10.3 IL6 CALCA
33 lymphatic malformation 1 10.3 VEGFC FLT4
34 periodontitis, chronic 10.3 TNFSF11 IL6
35 plantar fasciitis 10.3 VEGFA CALCA
36 substernal goiter 10.3 PTH CALCA
37 bone giant cell sarcoma 10.2 TNFSF11 FLT4
38 primary cutaneous b-cell lymphoma 10.2 VEGFA IFNA2
39 osteosclerotic myeloma 10.2 VEGFA IL6
40 hemifacial spasm 10.2 VEGFA FLT4
41 infiltrating angiolipoma 10.2 VEGFC VEGFA
42 ulcer of lower limbs 10.2 VEGFA IL6
43 elephantiasis 10.2 VEGFC FLT4
44 endemic goiter 10.2 PTH CALCA
45 hypercalcemia, infantile, 1 10.2 PTH CALCA
46 mucinous cystadenocarcinoma of the pancreas 10.2 VEGFC PDPN
47 hypopyon 10.2 VEGFA IL6
48 gingival recession 10.2 TNFSF11 IL6
49 eales disease 10.2 VEGFA IL6
50 scleral disease 10.2 VEGFA IL6

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.02 FLT4 GALNT3 GLMN IL6 LYVE1 PDPN
2 homeostasis/metabolism MP:0005376 9.85 FLT4 GALNT3 GLMN IL6 PDPN PECAM1
3 digestive/alimentary MP:0005381 9.73 FLT4 GALNT3 IL6 PDPN PECAM1 VEGFA
4 immune system MP:0005387 9.65 FLT4 GALNT3 IL6 LYVE1 PDPN PECAM1
5 muscle MP:0005369 9.17 FLT4 GALNT3 IL6 PDPN PECAM1 TNFSF11

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 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 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

MalaCards organs/tissues related to Gorham's Disease:

40
Bone, Endothelial, Spinal Cord

Publications for Gorham's Disease

Articles related to Gorham's Disease:

(show top 50) (show all 151)
# Title Authors PMID Year
1
Gorham-Stout Disease: a Clinical Case Report and Immunological Mechanisms in Bone Erosion. 20
28004375 2017
2
Gorham-Stout disease with parietal bone osteolysis: a case series and review of literature. 61
32216589 2021
3
'Vanishing carpal bones' in a patient with congenital adrenal hyperplasia - A diagnostic dilemma. 61
33100741 2020
4
Gorham's disease: treatment with an autologous iliac bone graft and a reverse total shoulder arthroplasty. 61
30760279 2019
5
Gorham's disease of the mandible: radiological features. 61
30484126 2018
6
Cerebrospinal fluid leakage and Chiari I malformation with Gorham's disease of the skull base: A case report. 61
28743389 2017
7
A case of vanishing skull: Gorham's disease. 61
28854618 2017
8
[Management of postoperative complications in cases of Gorham's disease with cervical spine involvement: A case report]. 61
28502565 2017
9
Gorham's disease in humerus treated with autogenous vascularized fibular graft. 61
28400670 2017
10
Gorham's Disease of the Maxilla and Mandible With Distinctive Cone Beam Computerized Tomographic Features. 61
29531559 2017
11
Painful sporadic osteolysis of the parietal bone 'Gorham's disease'. 61
27331246 2016
12
Gorham's disease of mandible--a rare case presentation in pediatric patient. 61
27080971 2016
13
Novel approach of treating Gorham-Stout disease in the humerus--Case report and review of literature. 61
26914115 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
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
17
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
18
"Vanishing Bone Disease" in Maxillofacial Region: A Review and Our Experience. 61
26225043 2015
19
Reossification in Gorham's disease of the hand and wrist with unusual CT and MR imaging features. 61
25712769 2015
20
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
21
Complex single step skull reconstruction in Gorham's disease - a technical report and review of the literature. 61
25880917 2015
22
Gorham's disease: clinical case. 61
26229923 2015
23
[Gorham's disease (disappearing bone syndrome)]. 61
25249394 2015
24
Gorham's Disease With Chest Wall Involvement: A Case Report and a Review of the Literature. 61
25763205 2014
25
Multifocal hemangioendotheliomas of bone mimicking metastases. 61
25308018 2014
26
Serial lymphoscintigraphic findings in a patient with Gorham's disease with lymphedema. 61
25420304 2014
27
Gorham's disease: A diagnostic challenge. 61
25948997 2014
28
Abdominal lymphangiomatosis in a 38-year-old female: case report and literature review. 61
25009412 2014
29
Gastrointestinal Tract Involvement of Gorham's Disease with Expression of D2-40 in Duodenum. 61
24749089 2014
30
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
31
Chiari I malformation associated with Gorham's disease of the skull base. 61
24300744 2014
32
Gorham's disease. 61
24968562 2013
33
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
34
Gorham's Disease of Spine. 61
24066223 2013
35
Gorham's disease: the disappearing bone. 61
23486335 2013
36
Gorham's Disease complicated with bilateral chylothorax and successfully treated with Interferon-alpha-2a. 61
28920203 2013
37
Bone loss in Gorham's disease: A case study. 61
23596466 2013
38
A Rare Case of Gorham's Disease: Primary Ulnar Involvement with Secondary Spread to the Radius and Elbow. 61
24350149 2013
39
An aggressive lymphatic malformation (Gorham's disease) leading to death of a child. 61
23331822 2013
40
Gorham's Disease of the Mandible. 61
24066242 2013
41
Gorham's disease of the spine. 61
23949031 2013
42
Gorham's disease: 99mTc HMDP bone scan findings. 61
23067536 2012
43
Gorham's disease: a report of a case with mandibular involvement in a 10-year follow-up study. 61
22241873 2012
44
Sixty cases of extreme osteonecrosis and osteomyelitis of the mandible and maxilla in a West African population. 61
22652445 2012
45
Radiological features of Gorham's disease. 61
22424931 2012
46
Vanishing bone disease (Gorham's disease) - a rare occurrence of unknown etiology. 61
23032845 2012
47
[Gorham's disease and intra-osseous vascular abnormalities]. 61
22504738 2012
48
Gorham's disease of femur - A response. 61
22719130 2012
49
Progressive, massive osteolysis of mandible (Gorham's disease): report of a case. 61
22605602 2012
50
Gorham's disease of femur. 61
22144753 2011

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

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 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 24)
# Name GO ID Score Top Affiliating Genes
1 cytokine-mediated signaling pathway GO:0019221 9.81 VEGFA TNFSF11 IL6 IFNA2
2 positive regulation of cell migration GO:0030335 9.78 VEGFC VEGFA PECAM1 PDPN
3 platelet degranulation GO:0002576 9.76 VEGFC VEGFA PECAM1
4 positive regulation of MAPK cascade GO:0043410 9.75 VEGFA IL6 FLT4
5 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.72 VEGFA PECAM1 IL6
6 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.63 VEGFA IL6 IFNA2
7 bone resorption GO:0045453 9.62 TNFSF11 PTH
8 positive regulation of protein phosphorylation GO:0001934 9.62 VEGFC VEGFA PECAM1 FLT4
9 positive regulation of protein autophosphorylation GO:0031954 9.61 VEGFC VEGFA
10 positive regulation of neuroblast proliferation GO:0002052 9.61 VEGFC VEGFA
11 positive regulation of endothelial cell proliferation GO:0001938 9.61 VEGFC VEGFA FLT4
12 mammary gland alveolus development GO:0060749 9.6 VEGFA TNFSF11
13 negative regulation of bone resorption GO:0045779 9.59 IL6 CALCA
14 vascular endothelial growth factor receptor signaling pathway GO:0048010 9.58 VEGFC VEGFA FLT4
15 induction of positive chemotaxis GO:0050930 9.57 VEGFC VEGFA
16 lymphangiogenesis GO:0001946 9.56 PDPN FLT4
17 positive regulation of protein kinase C signaling GO:0090037 9.54 VEGFA FLT4
18 positive regulation of cellular component movement GO:0051272 9.52 VEGFA PDPN
19 positive regulation of extracellular matrix disassembly GO:0090091 9.49 PDPN IL6
20 monocyte chemotaxis GO:0002548 9.43 TNFSF11 IL6 CALCA
21 positive regulation of mast cell chemotaxis GO:0060754 9.37 VEGFC VEGFA
22 sprouting angiogenesis GO:0002040 9.33 VEGFC VEGFA FLT4
23 vascular endothelial growth factor signaling pathway GO:0038084 9.13 VEGFC VEGFA FLT4
24 positive regulation of phosphorylation GO:0042327 8.92 VEGFA TNFSF11 IFNA2 GLMN

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 for Gorham's Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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