MCID: RRG015
MIFTS: 9

Rare Genetic Bone Disease

Categories: Bone diseases, Rare diseases
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Aliases & Classifications for Rare Genetic Bone Disease

MalaCards integrated aliases for Rare Genetic Bone Disease:

Name: Rare Genetic Bone Disease 58

Classifications:



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Orphanet 58 ORPHA183524

Summaries for Rare Genetic Bone Disease

MalaCards based summary: Rare Genetic Bone Disease is related to craniometaphyseal dysplasia, autosomal dominant and gigantiform cementoma, familial. Affiliated tissues include bone and bone marrow.

Related Diseases for Rare Genetic Bone Disease

Diseases related to Rare Genetic Bone Disease via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 craniometaphyseal dysplasia, autosomal dominant 11.0
2 gigantiform cementoma, familial 11.0
3 steel syndrome 11.0
4 bone disease 9.9

Symptoms & Phenotypes for Rare Genetic Bone Disease

Drugs & Therapeutics for Rare Genetic Bone Disease

Search Clinical Trials, NIH Clinical Center for Rare Genetic Bone Disease

Genetic Tests for Rare Genetic Bone Disease

Anatomical Context for Rare Genetic Bone Disease

Organs/tissues related to Rare Genetic Bone Disease:

MalaCards : Bone, Bone Marrow

Publications for Rare Genetic Bone Disease

Articles related to Rare Genetic Bone Disease:

(show all 12)
# Title Authors PMID Year
1
Surgical management of chronic osteomyelitis with benign osteopetrosis: A case report. 62
33996048 2021
2
A novel mutation in TNFRSF11A gene causes pediatric osteopetrosis: case report. 62
34049530 2021
3
Hybrid minigene splicing assay verifies the pathogenicity of a novel splice site variant in the COL1A1 gene of a chinese patient with osteogenesis imperfecta type I. 62
31653500 2019
4
Osteopetrotic induced pluripotent stem cells derived from patients with different disease-associated mutations by non-integrating reprogramming methods. 62
31315669 2019
5
TCIRG1 and SNX10 gene mutations in the patients with autosomal recessive osteopetrosis. 62
30898715 2019
6
Genotype-phenotype correlation among Malaysian patients with osteogenesis imperfecta. 62
29807018 2018
7
Buried in the Middle but Guilty: Intronic Mutations in the TCIRG1 Gene Cause Human Autosomal Recessive Osteopetrosis. 62
25829125 2015
8
A case of cavernous sinus thrombophlebitis and meningitis as a complication in osteopetrosis. 62
25247162 2014
9
RANKL cytokine: from pioneer of the osteoimmunology era to cure for a rare disease. 62
23762088 2013
10
Prognostic potential of precise molecular diagnosis of Autosomal Recessive Osteopetrosis with respect to the outcome of bone marrow transplantation. 62
19002772 2008
11
Novel treatment of a rare genetic bone disease. 62
17323628 2007
12
Treatment of idiopathic hyperphosphatasia with intensive bisphosphonate therapy. 62
15068492 2004

Variations for Rare Genetic Bone Disease

Expression for Rare Genetic Bone Disease

Search GEO for disease gene expression data for Rare Genetic Bone Disease.

Pathways for Rare Genetic Bone Disease

GO Terms for Rare Genetic Bone Disease

Sources for Rare Genetic Bone Disease

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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