MCID: GRH001
MIFTS: 37

Gorham's Disease

Categories: Rare diseases, Bone diseases

Aliases & Classifications for Gorham's Disease

MalaCards integrated aliases for Gorham's Disease:

Name: Gorham's Disease 12 76 53 15
Gorham-Stout Syndrome 12 53
Osteolysis, Essential 44 73
Cystic Angiomatosis of Bone Diffuse 53
Disappearing Bone Disease 12
Vanishing Bone Disease 53
Gorham-Stout Disease 53
Essential Osteolysis 12
Phantom Bone Disease 12
Massive Osteolysis 12
Osteolysis Massive 53
Massive Osteolyses 73
Gorham Disease 12

Classifications:



External Ids:

Disease Ontology 12 DOID:4837
MeSH 44 D010015
SNOMED-CT 68 240161003

Summaries for Gorham's Disease

NIH Rare Diseases : 53 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 cystic angiomatosis of bone, diffuse and lymphangiomatosis. An important gene associated with Gorham's Disease is IFNA2 (Interferon Alpha 2), and among its related pathways/superpathways are Pathways in cancer and PI3K-Akt signaling pathway. The drugs Anesthetics and Mitogens have been mentioned in the context of this disorder. Affiliated tissues include bone, endothelial and spinal cord, and related phenotype is cardiovascular 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 : 76 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 all 12)
# Related Disease Score Top Affiliating Genes
1 cystic angiomatosis of bone, diffuse 11.9
2 lymphangiomatosis 10.3
3 kaposiform lymphangiomatosis 10.3
4 congenital lymphedema 9.9 FLT4 VEGFC
5 klippel-trenaunay-weber syndrome 9.9 FLT4 GLMN
6 lymphangiosarcoma 9.9 FLT4 VEGFC
7 hennekam syndrome 9.9 FLT4 VEGFC
8 venous malformations, multiple cutaneous and mucosal 9.9 FLT4 GLMN
9 lymphatic system disease 9.7 FLT4 VEGFC
10 breast carcinoma in situ 9.6 FLT4 VEGFC
11 lymphangioma 9.5 FLT4 IFNA2 VEGFC
12 lymphedema 9.3 FLT4 VEGFC

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 9.02 FLT4 GALNT3 GLMN GYS1 VEGFC

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 Not Applicable
2 Mitogens
3 Endothelial Growth Factors

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 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:

41
Bone, Endothelial, Spinal Cord, Lung

Publications for Gorham's Disease

Articles related to Gorham's Disease:

(show top 50) (show all 94)
# Title Authors Year
1
A case of vanishing skull: Gorham's disease. ( 28854618 )
2017
2
Gorham's disease in humerus treated with autogenous vascularized fibular graft. ( 28400670 )
2017
3
Gorham's Disease of the Maxilla and Mandible With Distinctive Cone Beam Computerized Tomographic Features. ( 29531559 )
2017
4
Cerebrospinal fluid leakage and Chiari I malformation with Gorham's disease of the skull base: A case report. ( 28743389 )
2017
5
Gorham's disease of the proximal tibia successfully treated with local administration of OK-432, followed by reconstruction with distraction osteogenesis: a case report. ( 26288374 )
2016
6
Gorham's Disease in a Patient with Traumatic Spinal Cord Injury: Case Report and Review of the Literature. ( 29398896 )
2016
7
Gorham's disease of mandible - a rare case presentation in pediatric patient. ( 27080971 )
2016
8
Reossification in Gorham's disease of the hand and wrist with unusual CT and MR imaging features. ( 25712769 )
2015
9
Surgical Treatment of Gorham's Disease with Massive Osteolysis of the Skull and Cervical Spine: A Case Report and Review of Literature. ( 28663971 )
2015
10
Complex single step skull reconstruction in Gorham's disease - a technical report and review of the literature. ( 25880917 )
2015
11
Gorham's disease: clinical case. ( 26229923 )
2015
12
Gorham's disease-vanishing bone of the cervical spine. ( 26334233 )
2015
13
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. ( 27299093 )
2015
14
Gorham's disease: A diagnostic challenge. ( 25948997 )
2014
15
Gastrointestinal Tract Involvement of Gorham's Disease with Expression of D2-40 in Duodenum. ( 24749089 )
2014
16
Serial lymphoscintigraphic findings in a patient with Gorham's disease with lymphedema. ( 25507288 )
2014
17
Gorham's Disease With Chest Wall Involvement: A Case Report and a Review of the Literature. ( 25763205 )
2014
18
Chiari I malformation associated with Gorham's disease of the skull base. ( 24300744 )
2014
19
Serial lymphoscintigraphic findings in a patient with Gorham's disease with lymphedema. ( 25420304 )
2014
20
Gorham's disease. ( 24968562 )
2013
21
An aggressive lymphatic malformation (Gorham's disease) leading to death of a child. ( 23331822 )
2013
22
Gorham's disease: the disappearing bone. ( 23486335 )
2013
23
A Rare Case of Gorham's Disease: Primary Ulnar Involvement with Secondary Spread to the Radius and Elbow. ( 24350149 )
2013
24
Gorham's Disease of Spine. ( 24066223 )
2013
25
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. ( 24206415 )
2013
26
Gorham's disease of the spine. ( 23949031 )
2013
27
Gorham's Disease of the Mandible. ( 24066242 )
2013
28
Bone loss in Gorham's disease: A case study. ( 23596466 )
2013
29
Gorham's disease: a report of a case with mandibular involvement in a 10-year follow-up study. ( 22241873 )
2012
30
Radiological features of Gorham's disease. ( 22424931 )
2012
31
Gorham's disease: 99mTc HMDP bone scan findings. ( 23067536 )
2012
32
Progressive, massive osteolysis of mandible (Gorham's disease): report of a case. ( 22605602 )
2012
33
Vanishing bone disease (Gorham's disease) - a rare occurrence of unknown etiology. ( 23032845 )
2012
34
Gorham's disease of femur - A response. ( 22719130 )
2012
35
Gorham's disease: diagnostic utility of an autopsy for a rare bone disease. ( 22018430 )
2011
36
Massive osteolysis in a dog resembling Gorham's disease in humans. ( 21822531 )
2011
37
Gorham's disease of femur. ( 22144753 )
2011
38
Progressive lymphangiomatosis and Gorham's disease: case report and clinical implications. ( 22196286 )
2011
39
Lymphangiomatosis and Gorham's Disease. ( 22196281 )
2011
40
Chylous hip joint effusion and bone absorption after total hip arthroplasty in a patient with chylocolporrhoea: a case of Gorham's disease. ( 21698592 )
2011
41
Gorham's disease and diffuse lymphangiomatosis in children and adolescents. ( 21298758 )
2011
42
Vanished humeral head in a patient with rheumatoid arthritis: a case of Gorham's disease. ( 19582461 )
2010
43
Use of zoledronic acid in the treatment of Gorham's disease. ( 20074817 )
2010
44
Early surgical management of chylothorax complicated by Gorham's disease. ( 21110275 )
2010
45
Gorham's disease of the maxilla: a case report. ( 20100925 )
2010
46
Gorham's disease of the calvarium. ( 20228489 )
2010
47
The Gorham-Stout syndrome: one lung ventilation with a bronchial blocker. A case of Gorham's disease with chylothorax. ( 19207918 )
2009
48
Gorham's disease of the fibula: a case report. ( 19423035 )
2009
49
Radiological and CT findings in a extensive upper-limb involvement of Gorham's Disease: a case report. ( 19829979 )
2009
50
Splenic lymphangiomatosis associated with skeletal involvement (Gorham's disease): a new case and review of literature. ( 19322127 )
2009

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:

# Super pathways Score Top Affiliating Genes
1 12.15 FLT4 IFNA2 VEGFC
2
Show member pathways
12.08 FLT4 GYS1 IFNA2 VEGFC
3 11.57 FLT4 VEGFC
4
Show member pathways
11.33 FLT4 VEGFC
5 11.27 FLT4 VEGFC
6 10.52 FLT4 VEGFC
7
Show member pathways
9.83 FLT4 VEGFC

GO Terms for Gorham's Disease

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

# Name GO ID Score Top Affiliating Genes
1 vascular endothelial growth factor receptor signaling pathway GO:0048010 9.26 FLT4 VEGFC
2 positive regulation of endothelial cell proliferation GO:0001938 9.16 FLT4 VEGFC
3 vasculogenesis GO:0001570 8.96 FLT4 GLMN
4 positive regulation of phosphorylation GO:0042327 8.62 GLMN IFNA2

Sources for Gorham's Disease

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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