Giant Cell Reparative Granuloma disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MalaCards based summary: Giant Cell Reparative Granuloma, also known as central giant cell reparative granuloma of jaw, is related to hyperparathyroidism and root resorption, and has symptoms including pain An important gene associated with Giant Cell Reparative Granuloma is SH3BP2 (SH3 Domain Binding Protein 2), and among its related pathways/superpathways are G alpha (s) signalling events and Clock-controlled autophagy in bone metabolism. The drugs Salmon calcitonin and Denosumab have been mentioned in the context of this disorder. Affiliated tissues include bone, lymph node and temporal lobe, and related phenotypes are homeostasis/metabolism and immune system

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Related Diseases for Giant Cell Reparative Granuloma

Diseases related to Giant Cell Reparative Granuloma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 233)

#	Related Disease	Score	Top Affiliating Genes
1	hyperparathyroidism	30.6	TNFSF11 PTH CALCA
2	root resorption	30.5	TNFSF11 TNFRSF11A CALCR CALCA
3	fibrous dysplasia	30.4	TNFSF11 TNFRSF11A CALCA
4	osteitis fibrosa	30.4	PTH CALCA
5	epulis	30.3	SH3BP2 SERPINA3 CD68
6	cherubism	30.2	USP6 TNFSF11 SH3BP2 CALCA
7	cutaneous fibrous histiocytoma	30.1	SERPINA3 CD68
8	primary hyperparathyroidism	30.0	TNFSF11 PTH CALCA
9	mammary paget's disease	29.9	TNFSF11 TNFRSF11A PTH CALCA
10	fibroma	29.8	USP6 SERPINA3 NF1 CD68
11	osteomyelitis	29.7	TNFSF11 TNFRSF11A CALCA
12	osteomalacia	29.7	TNFSF11 PTH CALCA
13	paget's disease of bone	29.6	TNFSF11 TNFRSF11A PTH CALCA
14	bone disease	29.3	TNFSF11 TNFRSF11A SERPINA3 PTH CALCA
15	ossifying fibroma	29.3	USP6 SH3BP2 SERPINA3 PTH NF1 H3-3A
16	bone giant cell tumor	28.8	USP6 TNFSF11 SH3BP2 SERPINA3 PTH H3-3A
17	benign giant cell tumor	28.7	USP6 TNFSF11 TNFRSF11A SERPINA3 H3-3A CD68
18	aneurysmal bone cysts	10.8
19	enchondroma	10.3
20	multiple mucosal neuroma	10.3	NF1 CALCA
21	perianal hematoma	10.3	NF1 CALCA
22	otitis media	10.3
23	osteogenic sarcoma	10.3
24	congenital hemidysplasia with ichthyosiform erythroderma and limb defects	10.2
25	osteonecrosis	10.2
26	children's interstitial lung disease	10.2
27	horner's syndrome	10.2	NF1 CALCA
28	peripheral nerve schwannoma	10.2	SERPINA3 NF1
29	tetanic cataract	10.2	PTH CALCA
30	substernal goiter	10.2	PTH CALCA
31	kohler's disease	10.2	PTH CALCA
32	autonomic nervous system benign neoplasm	10.2	NF1 CALCA
33	isthmus cancer	10.2	PTH CALCA
34	peripheral nervous system benign neoplasm	10.2	NF1 CALCA
35	malignant spindle cell melanoma	10.2	SERPINA3 NF1
36	hypervitaminosis d	10.2	PTH CALCA
37	hypercalcemia, infantile, 1	10.2	PTH CALCA
38	endemic goiter	10.2	PTH CALCA
39	plummer's disease	10.2	PTH CALCA
40	nontoxic goiter	10.2	PTH CALCA
41	hemifacial hyperplasia	10.2
42	ameloblastoma	10.2
43	melorheostosis	10.2
44	juvenile ossifying fibroma	10.2
45	lipoadenoma	10.2	SERPINA3 PTH
46	ectopic cushing syndrome	10.2	NR3C1 CALCA
47	bursitis	10.2	PTH CALCA
48	multiple endocrine neoplasia, type iib	10.1	NF1 CALCA
49	spinal cord astrocytoma	10.1	NF1 H3-3A
50	pilocytic astrocytoma of cerebellum	10.1	NF1 H3-3A

Graphical network of the top 20 diseases related to Giant Cell Reparative Granuloma:

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Symptoms & Phenotypes for Giant Cell Reparative Granuloma

UMLS symptoms related to Giant Cell Reparative Granuloma:

pain

MGI Mouse Phenotypes related to Giant Cell Reparative Granuloma:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	homeostasis/metabolism	MP:0005376	10.07	CALCA CALCR H3-3A NF1 NR3C1 PTH
2	immune system	MP:0005387	9.97	CALCR CD68 NF1 NR3C1 PTH SERPINA3
3	limbs/digits/tail	MP:0005371	9.88	CALCR NF1 PTH SH3BP2 TNFRSF11A TNFSF11
4	skeleton	MP:0005390	9.81	CALCA CALCR CD68 NF1 NR3C1 PTH
5	respiratory system	MP:0005388	9.73	CALCA NF1 NR3C1 SH3BP2 TNFRSF11A TNFSF11
6	hematopoietic system	MP:0005397	9.61	CALCR CD68 NF1 NR3C1 PTH SERPINA3
7	integument	MP:0010771	9.17	CALCA NF1 NR3C1 SERPINA3 SH3BP2 TNFRSF11A

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Drugs & Therapeutics for Giant Cell Reparative Granuloma

Drugs for Giant Cell Reparative Granuloma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 9)

#

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

1

Salmon calcitonin

Approved, Investigational

Phase 2

47931-85-1

155817456

2

Denosumab

Approved

Phase 2

615258-40-7

3

Calcitonin gene-related peptide

Investigational

Phase 2

83652-28-2

91976570

4

Calcitonin

Phase 2

5

Hormones

Phase 2

6

Vasodilator Agents

Phase 2

7

Calcium, Dietary

Phase 2

8

Katacalcin

Phase 2

16172926

9

Calcium

Nutraceutical

Phase 2

7440-70-2

271

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Treatment of Aggressive Central Giant Cell Granuloma	Completed	NCT02358304	Phase 2	nasal spray calcitonin;Placebo
2	An Open-label, Multi-center, Phase 2 Study of Denosumab in Subjects With Giant Cell Rich Tumors of Bone	Recruiting	NCT03605199	Phase 2	Denosumab

Search NIH Clinical Center for Giant Cell Reparative Granuloma

Cochrane evidence based reviews: granuloma, giant cell

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Genetic Tests for Giant Cell Reparative Granuloma

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Anatomical Context for Giant Cell Reparative Granuloma

Organs/tissues related to Giant Cell Reparative Granuloma:

MalaCards : Bone, Lymph Node, Temporal Lobe, Smooth Muscle, Endothelial, Thyroid, Heart

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Publications for Giant Cell Reparative Granuloma

Articles related to Giant Cell Reparative Granuloma:

(show top 50) (show all 694)

#	Title	Authors	PMID	Year
1	Interventions for central giant cell granuloma (CGCG) of the jaws. ⁵³ ⁶²	Suarez-Roa Mde L...Meneses-Garcia A	19821413	2009
2	Central giant cell lesion of the jaw: nonsurgical treatment with calcitonin nasal spray. ⁵³ ⁶²	Allon DM...Calderon S	19464656	2009
3	Calcitonin: a non-invasive giant cells therapy. ⁵³ ⁶²	Borges HO...Filho MS	18466982	2008
4	DNA analysis of the SH3BP2 gene in patients with aggressive central giant cell granuloma. ⁵³ ⁶²	de Lange J...Redeker EJ	16713042	2007
5	Calcitonin nasal spray for treatment of central giant cell granuloma: clinical, radiological, and histological findings and immunohistochemical expression of calcitonin and glucocorticoid receptors. ⁵³ ⁶²	Vered M...Taicher S	17630098	2007
6	Giant cell reparative granuloma of the temporal bone treated with calcitonin. ⁵³ ⁶²	Souter MA...Worthington JP	16788413	2006
7	Limited regression of central giant cell granuloma by interferon alpha after failed calcitonin therapy: a report of 2 cases. ⁵³ ⁶²	de Lange J...Gortzak RA	16584870	2006
8	Calcitonin therapy in central giant cell granuloma of the jaw: a randomized double-blind placebo-controlled study. ⁵³ ⁶²	de Lange J...Klip H	16829031	2006
9	Immunohistochemical expression of glucocorticoid and calcitonin receptors as a tool for selecting therapeutic approach in central giant cell granuloma of the jawbones. ⁵³ ⁶²	Vered M...Dayan D	16580179	2006
10	Immunohistochemical expression of RANK, GRalpha and CTR in central giant cell granuloma of the jaws. ⁵³ ⁶²	Tobon-Arroyave SI...Vieco-Duran B	15878752	2005
11	Calcitonin therapy for central giant cell granuloma. ⁵³ ⁶²	Pogrel MA	12796868	2003
12	Neurofibromatosis 1: a novel NF1 mutation in an 11-year-old girl with a giant cell granuloma. ⁵³ ⁶²	Krammer U...Frisch H	12822827	2003
13	Treatment of central giant cell granuloma of the jaw with calcitonin. ⁵³ ⁶²	de Lange J...van den Berg H	10535540	1999
14	[Calcitonin therapy in large or recurrent central giant cell granulomas of the lower jaw]. ⁵³ ⁶²	Rosenberg AJ...Koole R	9132608	1997
15	Significant association between FGFR1 mutation frequency and age in central giant cell granuloma. ⁶²	Niada S...Brini AT	36428107	2022
16	Central Giant Cell Granuloma of Maxilla: A Case Report. ⁶²	Patel VI...Amrutha GM	36452637	2022
17	Oestrogen receptor expression distinguishes non-ossifying fibroma from other giant cell containing bone tumours. ⁶²	Cleven AHG...Bovee JVMG	35612673	2022
18	Central giant cell granuloma of the head & neck: A case report and systematic review. ⁶²	Richardson J...Philipone E	34411774	2022
19	Scalloped border as a possible diagnostic aid for differentiating jaw lesions: A pictorial essay. ⁶²	Mortazavi H...Safi Y	36238702	2022
20	Clinico-Pathological Characteristics, Management, and Outcome of Benign Intraosseous Maxillary Tumors in Adolescents: A Prospective Study. ⁶²	Hassanein AG...Ftohy TE	35762625	2022
21	Giant Cell Tumor and Giant Cell Reparative Granuloma of Bone of the Head: CT and MR Imaging Findings. ⁶²	Li SL...Deng YQ	35984022	2022
22	Novel regimen of combined intralesional triamcinolone and salmon calcitonin nasal spray to treat a large central giant cell granuloma. ⁶²	Aurora JK...Potlia I	36393951	2022
23	Central Giant Cell Granuloma in the Mandibular Condyle in a Teenager. A Case Report with Literature Review. ⁶²	Cantanhede ALC...de Moraes M	35888004	2022
24	Recurrent Mandibular Giant Cell Lesion in Neurofibromatosis Type 1: Second Hit Mutation on the NF1 Gene in the Osseous Lesion. ⁶²	Friedrich RE...Zenker M	35641267	2022
25	Treatment of central giant cell granuloma with denosumab: A case report of a complicated treatment course. ⁶²	Brijs K...Politis C	34767309	2022
26	Regarding "Denosumab for the management of central giant cell granuloma of the jaws-a case series". ⁶²	Kaban LB...Dodson TB	34657767	2022
27	Response to the comments to the Editor regarding "Denosumab for the management of central giant cell granuloma of the jaws-a case series". ⁶²	Pogrel MA	34696943	2022
28	Cone-beam computed tomographic imaging of central giant cell granuloma: A comprehensive review. ⁶²	Tahmasbi-Arashlow M...Cheng YL	35799967	2022
29	Denosumab for central giant cell granuloma in an Australian tertiary paediatric centre. ⁶²	Vanderniet JA...Munns CF	35331976	2022
30	Sclerostin Immunohistochemical Staining in Aggressive Maxillofacial Giant Cell Lesions: Initial Results and Potential Therapeutic Target. ⁶²	Kelly SP...Peacock ZS	34753866	2022
31	Pediatric Aggressive Benign Mandibular Tumors: Clinical Features and Management. ⁶²	Koraitim M...Shehata EA	34387270	2022
32	Combined lesion of central giant cell granuloma and ossifying fibroma: A case report of a rare event in oral cavity. ⁶²	Saadaat R...Abdul-Ghafar J	35439729	2022
33	[Giant-cell tumor of bone in 2022]. ⁶²	Larousserie F...de Pinieux G	35523609	2022
34	[Bilateral giant cell central granuloma of the jaws in a Noonan syndrome: About one case with emphasizing on bone giant cell lesions of the jaws]. ⁶²	Sizaret D...de Pinieux G	35058088	2022
35	Clinical and Radiologic Response of Central Giant Cell Granuloma to Denosumab: A 6-Year Prospective Observational Study. ⁶²	Rhou YJJ...Girgis CM	35088118	2022
36	[Experience with Denosumab in central giant-cell granuloma]. ⁶²	Hernandez Pelaez L...Villegas Rubio JA	35735304	2022
37	Non-surgical treatment as an alternative for the management of central giant cell granuloma: a systematic review. ⁶²	Camarini C...de Souza Tolentino E	34599398	2022
38	Hybrid odontogenic lesions: A systematic review of 203 cases reported in the literature. ⁶²	Pontes FSC...Pontes HAR	34469012	2022
39	A Unique Case of Aggressive Central Giant Cell Granuloma in a 10-Year-Old Boy With 16p13.11 Microdeletion Syndrome. ⁶²	Shum BJ...Ryabets-Lienhard A	36154495	2022
40	Central odontogenic fibroma in association with brown tumor of hyperparathyroidism in a patient with neurofibromatosis type 1. ⁶²	Ruddocks LA...Cohen DM	34511348	2022
41	Pediatric Mandibular Reconstruction Using the Vascularized Fibula Free Flap: Functional Outcomes in 34 Consecutive Patients. ⁶²	Zavala A...De Pawlikowski W	34334671	2021
42	Reconstruction of bilateral ramus-condyle unit defect using custom titanium prosthesis with preservation of both condyles. ⁶²	Farajpour H...Khojasteh A	34509905	2021
43	Dilemma in the Treatment of a Central Giant Cell Granuloma. ⁶²	Toferer A...Beham A	34740263	2021
44	An Intraosseous Giant Cell Granuloma: An Uncommon Presentation. ⁶²	Pavan VR...Giri GVV	35018067	2021
45	[Multiple giant cell reparative granuloma of craniofacial bone: a case report]. ⁶²	Wang D...Zhang K	34666474	2021
46	Correction to: Central Giant Cell Granuloma Treated with Intralesional Corticosteroid Injections and Bisphosphonates: A Long‑Term Follow‑Up Case Study. ⁶²	de Mendonca RP...de Jesus Viana Pinheiro J	34259981	2021
47	A rare mandibular neoplasm: case report of a Central Giant Cell Granuloma. ⁶²	Gabriele G...Gennaro P	34569469	2021
48	A Literature Review of the Rare Coexistence of Central Giant Cell Granuloma with Aneurysmal Bone Cyst: A Case Report. ⁶²	Imanimoghaddam M...Mohtasham N	34692579	2021
49	Worsening Lower Jaw Swelling and Pain in a Teenager: Differential Diagnosis and Management. ⁶²	Kahlon GK...Kondamudi N	34722071	2021
50	Denosumab for the management of central giant cell granuloma of the jaws-a case series. ⁶²	Pogrel MA...Hossaini-Zadeh M	33468436	2021

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Genes for Giant Cell Reparative Granuloma

Genes related to Giant Cell Reparative Granuloma (0 elite genes):

(show all 12)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	SH3BP2	SH3 Domain Binding Protein 2	Protein Coding	27.41	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	16713042
2	CALCA	Calcitonin Related Polypeptide Alpha	Protein Coding	22.23	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	11709690 16788413 16829031 (more) 9132608 8471587 17630098 10535540 10416634 18466982 19464656 12796868 16580179 19821413 16584870
3	CALCR	Calcitonin Receptor	Protein Coding	11.01	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	16580179
4	NF1	Neurofibromin 1	Protein Coding	10.67	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	12822827 16723851
5	SERPINA3	Serpin Family A Member 3	Protein Coding	10.37	DISEASES inferred ¹⁴ ¹⁴
6	TNFRSF11A	TNF Receptor Superfamily Member 11a	Protein Coding	9.59	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	15878752
7	USP6	Ubiquitin Specific Peptidase 6	Protein Coding	7.04	DISEASES inferred ¹⁴
8	PTH	Parathyroid Hormone	Protein Coding	6.9	DISEASES inferred ¹⁴
9	NR3C1	Nuclear Receptor Subfamily 3 Group C Member 1	Protein Coding	6.61	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	17630098
10	CD68	CD68 Molecule	Protein Coding	6.35	DISEASES inferred ¹⁴
11	TNFSF11	TNF Superfamily Member 11	Protein Coding	6.29	DISEASES inferred ¹⁴
12	H3-3A	H3.3 Histone A	Protein Coding	5.82	DISEASES inferred ¹⁴

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Variations for Giant Cell Reparative Granuloma

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Expression for Giant Cell Reparative Granuloma

Search GEO for disease gene expression data for Giant Cell Reparative Granuloma.

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Pathways for Giant Cell Reparative Granuloma

Pathways related to Giant Cell Reparative Granuloma according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	G alpha (s) signalling events ⁶⁶ Show member pathways Defective ACTH causes obesity and POMCD ⁶⁶	11.7	PTH CALCR CALCA
2	Clock-controlled autophagy in bone metabolism ⁷⁴	11.16	TNFSF11 TNFRSF11A PTH CALCA
3	Development_Hedgehog and PTH signaling pathways in bone and cartilage development ²²	11.02	TNFSF11 PTH
4	Type I collagen synthesis in the context of osteogenesis imperfecta ⁷⁴	10.92	TNFSF11 TNFRSF11A
5	Mammary gland development pathway - Pregnancy and lactation (Stage 3 of 4) ⁷⁴	10.84	TNFSF11 TNFRSF11A NR3C1
6	Transcription_Role of VDR in regulation of genes involved in osteoporosis ²²	10.75	TNFSF11 TNFRSF11A PTH NR3C1 CALCR CALCA
7	Regucalcin in proximal tubule epithelial kidney cells ⁷⁴	10.71	PTH CALCA
8	Autosomal recessive osteopetrosis pathways ⁷⁴	10.3	TNFSF11 TNFRSF11A

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GO Terms for Giant Cell Reparative Granuloma

Biological processes related to Giant Cell Reparative Granuloma according to GeneCards Suite gene sharing:

(show all 11)

#	Name	GO ID	Score	Top Affiliating Genes
1	signal transduction	GO:0007165	10.19	TNFRSF11A SH3BP2 PTH NR3C1 NF1 CALCR
2	monocyte chemotaxis	GO:0002548	9.8	CALCA TNFRSF11A TNFSF11
3	positive regulation of bone resorption	GO:0045780	9.78	TNFSF11 TNFRSF11A
4	mammary gland alveolus development	GO:0060749	9.76	TNFSF11 TNFRSF11A
5	TNFSF11-mediated signaling pathway	GO:0071847	9.67	TNFSF11 TNFRSF11A
6	amylin receptor signaling pathway	GO:0097647	9.58	CALCR CALCA
7	positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling	GO:0071848	9.56	TNFSF11 TNFRSF11A
8	ossification	GO:0001503	9.5	TNFSF11 TNFRSF11A CALCR CALCA
9	positive regulation of fever generation by positive regulation of prostaglandin secretion	GO:0071812	9.46	TNFSF11 TNFRSF11A
10	astrocyte differentiation	GO:0048708	9.43	NR3C1 NF1
11	osteoclast differentiation	GO:0030316	9.17	TNFSF11 TNFRSF11A NF1 CALCR

Sources

Sources for Giant Cell Reparative Granuloma

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: GNT001 MIFTS: 41	Giant Cell Reparative Granuloma Categories: Bone diseases, Cancer diseases, Gastrointestinal diseases, Oral diseases	Data Licensing For inquiries, contact: [email protected]
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