MCID: GRH001
MIFTS: 38

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 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

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 klippel-trenaunay-weber syndrome and cystic angiomatosis of bone, diffuse. 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 Endothelial Growth Factors have been mentioned in the context of this disorder. Affiliated tissues include bone, lung 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

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 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 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, Lung, Spinal Cord, Monocytes

Publications for Gorham's Disease

Articles related to Gorham's Disease:

(show top 50) (show all 140)
# Title Authors Year
1
Gorham's disease of the mandible: radiological features. ( 30484126 )
2018
2
Left Functional Pneumonectomy Caused by a Very Rare Giant Intrathoracic Cystic Lesion in a Patient with Gorham-Stout Syndrome: Case Report and Review of the Literature. ( 29850351 )
2018
3
A Rare Case of Gorham-Stout Syndrome of Femur Treated with Cement Augmentation. ( 29941719 )
2018
4
Combined neodymium-doped yttrium aluminum garnet laser and sclerotherapy in Gorham-Stout syndrome. ( 29984282 )
2018
5
Gorham-Stout syndrome. ( 29986084 )
2018
6
Successful treatment of Gorham-Stout syndrome in the spine by vertebroplasty with cement augmentation: A case report and literature review. ( 30024550 )
2018
7
Thoracic spine dislocation in Gorham-Stout Syndrome: Case report and literature review. ( 30533270 )
2018
8
A case of vanishing skull: Gorham's disease. ( 28854618 )
2017
9
Gorham's disease in humerus treated with autogenous vascularized fibular graft. ( 28400670 )
2017
10
Gorham's Disease of the Maxilla and Mandible With Distinctive Cone Beam Computerized Tomographic Features. ( 29531559 )
2017
11
Cerebrospinal fluid leakage and Chiari I malformation with Gorham's disease of the skull base: A case report. ( 28743389 )
2017
12
A Rare Case of Chylothorax. Gorham-Stout Syndrome. ( 28705386 )
2017
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. ( 26288374 )
2016
14
Gorham's Disease in a Patient with Traumatic Spinal Cord Injury: Case Report and Review of the Literature. ( 29398896 )
2016
15
Gorham's disease of mandible - a rare case presentation in pediatric patient. ( 27080971 )
2016
16
Gorham-Stout syndrome of the shoulder. ( 27194110 )
2016
17
Reossification in Gorham's disease of the hand and wrist with unusual CT and MR imaging features. ( 25712769 )
2015
18
Surgical Treatment of Gorham's Disease with Massive Osteolysis of the Skull and Cervical Spine: A Case Report and Review of Literature. ( 28663971 )
2015
19
Complex single step skull reconstruction in Gorham's disease - a technical report and review of the literature. ( 25880917 )
2015
20
Gorham's disease: clinical case. ( 26229923 )
2015
21
Gorham's disease-vanishing bone of the cervical spine. ( 26334233 )
2015
22
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
23
Vertebroplasty in a 10-year-old boy with Gorham-Stout syndrome. ( 25586760 )
2015
24
A successfully treated case of gorham-stout syndrome with sternal involvement. ( 25705608 )
2015
25
Total Joint Replacement for Severe Bilateral Condylar Resorption--Gorham-Stout Syndrome. ( 26080240 )
2015
26
Gorham's disease: A diagnostic challenge. ( 25948997 )
2014
27
Gastrointestinal Tract Involvement of Gorham's Disease with Expression of D2-40 in Duodenum. ( 24749089 )
2014
28
Serial lymphoscintigraphic findings in a patient with Gorham's disease with lymphedema. ( 25507288 )
2014
29
Gorham's Disease With Chest Wall Involvement: A Case Report and a Review of the Literature. ( 25763205 )
2014
30
Chiari I malformation associated with Gorham's disease of the skull base. ( 24300744 )
2014
31
Vanishing bone disease (Gorham-Stout syndrome): A review of a rare entity. ( 25405099 )
2014
32
Serial lymphoscintigraphic findings in a patient with Gorham's disease with lymphedema. ( 25420304 )
2014
33
Propranolol as a treatment option in Gorham-Stout syndrome: a case report. ( 24000203 )
2014
34
Gorham-Stout syndrome: a case report. ( 24825048 )
2014
35
Gorham's disease. ( 24968562 )
2013
36
An aggressive lymphatic malformation (Gorham's disease) leading to death of a child. ( 23331822 )
2013
37
Gorham's disease: the disappearing bone. ( 23486335 )
2013
38
A Rare Case of Gorham's Disease: Primary Ulnar Involvement with Secondary Spread to the Radius and Elbow. ( 24350149 )
2013
39
Gorham's Disease of Spine. ( 24066223 )
2013
40
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
41
Gorham's disease of the spine. ( 23949031 )
2013
42
Gorham's Disease of the Mandible. ( 24066242 )
2013
43
Bone loss in Gorham's disease: A case study. ( 23596466 )
2013
44
Gorham's Disease complicated with bilateral chylothorax and successfully treated with Interferon-alpha-2a. ( 28920203 )
2013
45
Gorham-Stout syndrome affecting the left mandible: A case report. ( 23251259 )
2013
46
Gorham-Stout syndrome affecting the temporal bone with cerebrospinal fluid leakage. ( 23827687 )
2013
47
Gorham-Stout syndrome in mainland China: a case series of 67 patients and review of the literature. ( 23897792 )
2013
48
Gorham's disease: a report of a case with mandibular involvement in a 10-year follow-up study. ( 22241873 )
2012
49
Radiological features of Gorham's disease. ( 22424931 )
2012
50
Gorham's disease: 99mTc HMDP bone scan findings. ( 23067536 )
2012

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

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of endothelial cell proliferation GO:0001938 9.32 FLT4 VEGFC
2 vascular endothelial growth factor receptor signaling pathway GO:0048010 9.26 FLT4 VEGFC
3 sprouting angiogenesis GO:0002040 9.16 FLT4 VEGFC
4 positive regulation of phosphorylation GO:0042327 8.96 GLMN IFNA2
5 vascular endothelial growth factor signaling pathway GO:0038084 8.62 FLT4 VEGFC

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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