Cystic Angiomatosis of Bone, Diffuse disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Cystic Angiomatosis of Bone, Diffuse

MalaCards integrated aliases for Cystic Angiomatosis of Bone, Diffuse:

Name: Cystic Angiomatosis of Bone, Diffuse ⁵⁷

Gorham-Stout Disease ⁵⁷ ⁵⁸

Progressive Massive Osteolysis ⁵⁸

Idiopathic Massive Osteolysis ⁵⁸

Vanishing Bone Disease ⁵⁸

Osteolysis, Massive ⁵⁷

Massive Osteolyses ⁷¹

Gorham Syndrome ⁵⁸

Gorham Disease ⁵⁸

Gsd ⁵⁷

Characteristics:

Inheritance:

Autosomal dominant ⁵⁷

Age Of Onset:

Gorham-Stout Disease: All ages ⁵⁸

Classifications:

MalaCards categories:
Global: Fetal diseases Rare diseases
Anatomical: Cardiovascular diseases Bone diseases

See all MalaCards categories (disease lists)

ICD10: ³²

Diseases of the musculoskeletal system and connective tissue

Other osteopathies

Other disorders of bone

Osteolysis

Orphanet: ⁵⁸

Rare circulatory system diseases

Rare systemic and rhumatological diseases

Rare bone diseases

Developmental anomalies during embryogenesis

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Summaries for Cystic Angiomatosis of Bone, Diffuse

Orphanet: ⁵⁸ Gorham-Stout disease (GSD) is a rare disease of massive osteolysis associated with proliferation and dilation of lymphatic vessels. GSD may affect any bone in the body and can be monostotic or polyostotic. Symptoms at presentation are dependent upon the location(s) of the disease; the most common symptom is localized pain. The disease may be discovered after a pathological fracture.

MalaCards based summary: Cystic Angiomatosis of Bone, Diffuse, also known as gorham-stout disease, is related to glycogen storage disease iv and glycogen storage disease iii. The drugs Anesthetics and Endothelial Growth Factors have been mentioned in the context of this disorder. Affiliated tissues include bone, spinal cord and endothelial, and related phenotypes are elevated alkaline phosphatase of bone origin and patchy reduction of bone mineral density

More information from OMIM: 123880

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Related Diseases for Cystic Angiomatosis of Bone, Diffuse

Diseases related to Cystic Angiomatosis of Bone, Diffuse via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 177)

#	Related Disease	Score
1	glycogen storage disease iv	11.8
2	glycogen storage disease iii	11.7
3	glycogen storage disease 0, muscle	11.6
4	glycogen storage disease type 0	11.5
5	glycogen storage disease vi	11.5
6	glycogen storage disease ixd	11.5
7	glycogen storage disease 0, liver	11.5
8	glycogen storage disease ib	11.5
9	glycogen storage disease ixb	11.5
10	glycogen storage disease due to phosphorylase kinase deficiency	11.5
11	glycogen storage disease ic	11.5
12	glycogen storage disease v	11.5
13	gorham's disease	11.5
14	glycogen storage disease vii	11.4
15	phosphorylase kinase deficiency	11.4
16	glycogen storage disease due to glucose-6-phosphatase deficiency type ib	11.4
17	glycogen storage disease ixa1	11.4
18	glycogen storage disease due to glycogen branching enzyme deficiency	11.4
19	glycogen storage disease ii	11.4
20	glycogen storage disease due to liver phosphorylase kinase deficiency	11.4
21	glycogen storage disease ixc	11.4
22	gerstmann-straussler disease	11.4
23	glycogen storage disease	11.3
24	glycogen storage disease due to glucose-6-phosphatase deficiency	11.3
25	glycogen storage disease x	11.2
26	glycogen storage disease xii	11.2
27	glycogen storage disease xv	11.2
28	fanconi-bickel syndrome	11.2
29	glycogen storage disease of heart, lethal congenital	11.1
30	danon disease	11.1
31	glycogen storage disease xiii	11.1
32	glycogen storage disease due to acid maltase deficiency, infantile onset	11.1
33	glycogen storage disease due to acid maltase deficiency, late-onset	11.1
34	polyglucosan body neuropathy, adult form	11.0
35	glycogen storage disease viii	11.0
36	phosphoglycerate kinase 1 deficiency	11.0
37	congenital disorder of glycosylation, type it	11.0
38	glycogen storage disease ixa	11.0
39	glutathione synthetase deficiency	10.9
40	lactate dehydrogenase b deficiency	10.9
41	glycogen storage disease due to lactate dehydrogenase deficiency	10.9
42	glycogen storage disease with hypertrophic cardiomyopathy	10.9
43	glycogen storage disease due to glycogen synthase deficiency	10.9
44	bone disease	10.8
45	lymphangioma	10.7
46	generalized lymphatic anomaly	10.7
47	lymphangiomatosis	10.7
48	diffuse lymphatic malformation	10.7
49	cerebrospinal fluid leak	10.5
50	lymphatic system disease	10.5

Graphical network of the top 20 diseases related to Cystic Angiomatosis of Bone, Diffuse:

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Symptoms & Phenotypes for Cystic Angiomatosis of Bone, Diffuse

Human phenotypes related to Cystic Angiomatosis of Bone, Diffuse:

⁵⁸ ³⁰ (show all 39)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	elevated alkaline phosphatase of bone origin ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0010639
2	patchy reduction of bone mineral density ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0010657
3	osteopenia ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0000938
4	bone pain ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0002653
5	abnormality of the cervical spine ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0003319
6	cortical irregularity ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0005731
7	impaired mastication ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0005216
8	lymphangioma ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0100764
9	functional motor deficit ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0004302
10	torticollis ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0000473
11	mandibular pain ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0200025
12	abnormality of the temporomandibular joint ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0010754
13	abnormality of the internal auditory canal ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0011384
14	rhinorrhea ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0031417
15	osteolysis involving bones of the lower limbs ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0009139
16	osteolysis involving bones of the upper limbs ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0045039
17	abnormal occipital bone morphology ³⁰	Frequent (33%)		HP:0012294
18	hearing impairment ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0000365
19	abnormality of femur morphology ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0002823
20	abnormality of finger ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0001167
21	pleural effusion ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0002202
22	hemangiomatosis ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0007461
23	pathologic fracture ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0002756
24	chiari type i malformation ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0007099
25	abnormality of the thoracic cavity ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0045027
26	mastoiditis ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0000265
27	abnormal ethmoid bone morphology ³⁰	Occasional (7.5%)		HP:0430005
28	meningitis ⁵⁸ ³⁰	Very rare (1%)	Very rare (<4-1%)	HP:0001287
29	osteomyelitis ⁵⁸ ³⁰	Very rare (1%)	Very rare (<4-1%)	HP:0002754
30	spinal cord compression ⁵⁸ ³⁰	Very rare (1%)	Very rare (<4-1%)	HP:0002176
31	abnormal pelvis bone morphology ⁵⁸ ³⁰	Very rare (1%)	Very rare (<4-1%)	HP:0040163
32	osteolysis ⁵⁸		Very frequent (99-80%)
33	edema ⁵⁸		Frequent (79-30%)
34	abnormal bone ossification ⁵⁸		Frequent (79-30%)
35	abnormality of the occipital bone ⁵⁸		Frequent (79-30%)
36	abnormality of ethmoid bone ⁵⁸		Occasional (29-5%)
37	abnormality of the calvaria ⁵⁸		Frequent (79-30%)
38	abnormality of facial skeleton ⁵⁸		Frequent (79-30%)
39	cystic angiomatosis of bone ³⁰			HP:0002833

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Skel:
diffuse cystic angiomatosis of bone

Radiology:
osteolytic lesions with a thin sclerotic rim throughout the length of long bones
increased sclerosis with age

Misc:
asymptomatic

Clinical features from OMIM®:

123880 (Updated 08-Dec-2022)

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Drugs & Therapeutics for Cystic Angiomatosis of Bone, Diffuse

Drugs for Cystic Angiomatosis of Bone, Diffuse (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
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 Cystic Angiomatosis of Bone, Diffuse

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Genetic Tests for Cystic Angiomatosis of Bone, Diffuse

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Anatomical Context for Cystic Angiomatosis of Bone, Diffuse

Organs/tissues related to Cystic Angiomatosis of Bone, Diffuse:

MalaCards : Bone, Spinal Cord, Endothelial, Skin

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Publications for Cystic Angiomatosis of Bone, Diffuse

Articles related to Cystic Angiomatosis of Bone, Diffuse:

(show top 50) (show all 336)

#	Title	Authors	PMID	Year
1	Interleukin-6: a potential mediator of the massive osteolysis in patients with Gorham-Stout disease. ⁶² ⁵⁷	Devlin RD...Roodman GD	8626854	1996
2	Massive osteolysis (acute spontaneous absorption of bone, phantom bone, disappearing bone); its relation to hemangiomatosis. ⁵⁷	GORHAM LW...STOUT AP	13263344	1955
3	Characterization of Extracellular Vesicles in Osteoporotic Patients Compared to Osteopenic and Healthy Controls. ⁶²	Pepe J...Del Fattore A	36053959	2022
4	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	Sattar A...Soleymani Majd H	36414336	2022
5	[Complicated lymphatic anomaly: a clinicopathological analysis of four cases]. ⁶²	Pan BJ...Feng RE	36323545	2022
6	A case of restitution ad integrum in Gorham-Stout disease. ⁶²	Pickering ME...Ltaief-Boudrigua A	36332892	2022
7	Vascular Anomaly Syndromes in the ISSVA Classification System: Imaging Findings and Role of Interventional Radiology in Management. ⁶²	Wang MX...Chau A	36190850	2022
8	Gorham-Stout disease, a diagnosis of exclusion. ⁶²	Ahmetgjekaj I...Musa J	35814817	2022
9	Difficult Therapeutic Decisions in Gorham-Stout Disease-Case Report and Review of the Literature. ⁶²	Wojciechowska-Durczynska K...Lewinski A	36141975	2022
10	How we approach the diagnosis and management of complex lymphatic anomalies. ⁶²	Ricci KW...Iacobas I	33844431	2022
11	Molecular Mechanisms Driving Lymphedema and Other Lymphatic Anomalies. ⁶²	Geng X...Srinivasan RS	35817543	2022
12	Gorham-Stout disease with life-threatening pleural effusion treated with a pleuro-peritoneal shunt: a case report. ⁶²	Toivonen LA...Metso S	35642669	2022
13	Lymphatic Anomalies in Children: Update on Imaging Diagnosis, Genetics, and Treatment. ⁶²	Snyder EJ...Tekes A	35043669	2022
14	"A case of vanishing bone disease complicated by chylothorax- diagnosis and treatment". ⁶²	Suzuki N...Kubba F	35774987	2022
15	Spouting Chylothorax in Gorham-Stout Disease. ⁶²	Nomura M...Yamaguchi Y	35104434	2022
16	Gorham-Stout case report: a multi-omic analysis reveals recurrent fusions as new potential drivers of the disease. ⁶²	Yebenes Mayordomo M...Alfaro JA	35668402	2022
17	Gorham-Stout disease of skull base leading to cranial settling and rhinorrhea: a case-based review. ⁶²	Maroufi SF...Nejat F	35217940	2022
18	Vanishing Lymphocytes in a Case of Vanishing Bone Disease. ⁶²	Iyengar VV...Desai MM	35089478	2022
19	Non-secretory myeloma in young man mimicking the Gorham disease: case report and the literature review. ⁶²	Ferjani HL...Hamdi W	34610233	2022
20	Vanishing Bone Disease of the Thoracic Cage: Challenges in the Management of a Rare Entity. ⁶²	Cherian KE...Paul TV	35415229	2022
21	The importance of computed tomography (CT) scans in the early diagnosis of Gorham-Stout Disease - A case report. ⁶²	Hyseni F...Musa J	34950281	2022
22	Gorham Stout disease of the temporal bone with cerebrospinal fluid leak. ⁶²	Aouad P...Ryan ME	34115176	2022
23	Bacterial meningitis due to the Streptococcus mitis group in children with cerebrospinal fluid leak. ⁶²	Fukayama H...Miyairi I	35145856	2022
24	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	Morinaga Y...Ishikawa E	35493538	2022
25	Gorham-Stout disease: A multirod lumbar reconstruction with off-label suppression-remission therapy. ⁶²	Krishnan A...Dave B	35509593	2022
26	Idiopathic focal calvarial thinning: A case report. ⁶²	Tsukada A...Ishikawa E	36447892	2022
27	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	Lee M...Abdulhaq H	35795542	2022
28	A Case of Gorham-Stout Disease of the Skull Base Treated With Intensity Modulated Radiation Therapy. ⁶²	Roy A...Daly MD	34729445	2022
29	Current concepts from diagnosis to management in Gorham-Stout disease: a systematic narrative review of about 350 cases. ⁶²	Angelini A...Ruggieri P	35076412	2022
30	[Unilateral subjective tinnitus «vanishing bone» disease (Goram-Stout syndrome).] ⁶²	Kryukov AI...Donyush EK	36404698	2022
31	Cerebrospinal fluid-lymphatic fistula causing spontaneous intracranial hypotension in a child with kaposiform lymphangiomatosis. ⁶²	Soderlund KA...Dillon WP	34286352	2021
32	Surgical treatment of a patient with Gorham-Stout disease of craniovertebral junction: case report and literature review. ⁶²	Evsyukov A...Rzaev J	34585642	2021
33	A narrative review of the role of sirolimus in the treatment of congenital vascular malformations. ⁶²	Geeurickx M...Labarque V	33737259	2021
34	A Case of Gorham-Stout Disease Treated with Fistula Closure by Transmeatal Approach. ⁶²	Watanabe T...Fujiwara K	34434067	2021
35	Severe adverse events during sirolimus "off-label" therapy for vascular anomalies. ⁶²	Rossler J...Kapp FG	33580918	2021
36	KRAS-driven model of Gorham-Stout disease effectively treated with trametinib. ⁶²	Homayun-Sepehr N...Dellinger MT	34156985	2021
37	Radiographic extent of maxillofacial Gorham's disease and its impact on recurrence: A systematic review. ⁶²	Sansare K...Sreenivasan V	34020915	2021
38	Imaging Spectrum of Calvarial Abnormalities. ⁶²	Khodarahmi I...Wenokor C	34197249	2021
39	Gorham-Stout Disease with Multiple Bone Involvement-Challenging Diagnosis of a Rare Disease and Literature Review. ⁶²	Momanu A...Gorduza EV	34356962	2021
40	Gorham-Stout disease: interesting cause of pleural effusion. ⁶²	Olea-Mendoza D...Caprio C	33692056	2021
41	Gorham-Stout Disease Resulting in Spinal Deformity Treated by Fusion Surgery Combined With Everolimus Therapy: A Case Report. ⁶²	Toga A...Matsumoto M	33657060	2021
42	Vanishing bone disease: An enigma. ⁶²	Saify FY...Sood M	34083962	2021
43	Dysregulated miRNAs in bone cells of patients with Gorham-Stout disease. ⁶²	Rossi M...Del Fattore A	33609323	2021
44	Gorham Disease Limited to the Left Upper Extremity Without Hand Involvement. ⁶²	Kuczmarski AS...Akelman E	32423777	2021
45	Gorham-Stout disease with parietal bone osteolysis: a case series and review of literature. ⁶²	Takaya K...Kishi K	32216589	2021
46	Utility of the spinal instability neoplastic score to identify patients with Gorham-Stout disease requiring spine surgery. ⁶²	Gui C...Massicotte E	34221558	2021
47	Negative-pressure Wound Therapy for Sacral Pressure Ulcer in Gorham-Stout Disease. ⁶²	Shiokawa I...Momosawa A	33552805	2021
48	Gorham-Stout Disease with Clinical Response to Sirolimus Treatment. ⁶²	Forero Saldarriaga S...Bonilla Gonzalez C	34527618	2021
49	Gorham-Stout disease of the mandible, manubrium and cervical spine presenting as bilateral chylothorax. ⁶²	Thompson AA...Patrawala S	33468524	2021
50	CT and MRI Findings of Focal Splenic Lesions and Ascites in Generalized Lymphatic Anomaly, Kaposiform Lymphangiomatosis, and Gorham-Stout Disease. ⁶²	Nakamura F...Matsuo M	34513208	2021

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Genes for Cystic Angiomatosis of Bone, Diffuse

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Variations for Cystic Angiomatosis of Bone, Diffuse

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Expression for Cystic Angiomatosis of Bone, Diffuse

Search GEO for disease gene expression data for Cystic Angiomatosis of Bone, Diffuse.

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Pathways for Cystic Angiomatosis of Bone, Diffuse

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GO Terms for Cystic Angiomatosis of Bone, Diffuse

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Sources for Cystic Angiomatosis of Bone, Diffuse

¹ BitterDB

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⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

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⁷³ UniProtKB/Swiss-Prot

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⁷⁵ Wikipedia

GSD MCID: CYS041 MIFTS: 34	Cystic Angiomatosis of Bone, Diffuse (GSD) Categories: Bone diseases, Cardiovascular diseases, Fetal diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
Tissues Related diseases Publications Symptoms & Phenotypes Drugs Expand all tables

Cystic Angiomatosis of Bone, Diffuse (GSD)

Aliases & Classifications for Cystic Angiomatosis of Bone, Diffuse

MalaCards integrated aliases for Cystic Angiomatosis of Bone, Diffuse:

Characteristics:

Inheritance:

Age Of Onset:

Classifications:

External Ids:

Summaries for Cystic Angiomatosis of Bone, Diffuse

Related Diseases for Cystic Angiomatosis of Bone, Diffuse

Diseases related to Cystic Angiomatosis of Bone, Diffuse via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Cystic Angiomatosis of Bone, Diffuse:

Symptoms & Phenotypes for Cystic Angiomatosis of Bone, Diffuse

Human phenotypes related to Cystic Angiomatosis of Bone, Diffuse:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Cystic Angiomatosis of Bone, Diffuse

Drugs for Cystic Angiomatosis of Bone, Diffuse (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

Interventional clinical trials:

Genetic Tests for Cystic Angiomatosis of Bone, Diffuse

Anatomical Context for Cystic Angiomatosis of Bone, Diffuse

Organs/tissues related to Cystic Angiomatosis of Bone, Diffuse:

Publications for Cystic Angiomatosis of Bone, Diffuse

Articles related to Cystic Angiomatosis of Bone, Diffuse:

Genes for Cystic Angiomatosis of Bone, Diffuse

Variations for Cystic Angiomatosis of Bone, Diffuse

Expression for Cystic Angiomatosis of Bone, Diffuse

Pathways for Cystic Angiomatosis of Bone, Diffuse

GO Terms for Cystic Angiomatosis of Bone, Diffuse

Sources for Cystic Angiomatosis of Bone, Diffuse