MCID: OST001
MIFTS: 60

Osteopetrosis malady

Bone diseases category

Summaries for Osteopetrosis

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8Disease Ontology, 21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 Osteopetrosis is a bone disease that makes bones abnormally dense and prone to breakage (fracture). researchers have described several major types of osteopetrosis, which are usually distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or x-linked. the different types of the disorder can also be distinguished by the severity of their signs and symptoms. mutations in at least nine genes cause the various types of osteopetrosis. last updated: 11/14/2011

MalaCards: Osteopetrosis, also known as albers-schonberg disease, is related to osteopetrosis autosomal dominant type 2 and renal tubular acidosis. An important gene associated with Osteopetrosis is ATP6V0A2 (ATPase, H+ transporting, lysosomal V0 subunit a2), and among its related pathways are Transcription Role of VDR in regulation of genes involved in osteoporosis and Osteoclast Signaling. The drug interferon gamma-1b and the compounds laccer and denosumab have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and brain, and related mouse phenotype skeleton.

Disease Ontology:8 An osteosclerosis that has material basis in lack of bone resorption which results in abnormally hard and brittle bones.

Genetics Home Reference:21 Osteopetrosis is a bone disease that makes bones abnormally dense and prone to breakage (fracture). Researchers have described several major types of osteopetrosis, which are usually distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or X-linked. The different types of the disorder can also be distinguished by the severity of their signs and symptoms.

Wikipedia:63 Osteopetrosis, literally \"stone bone\", also known as marble bone disease and Albers-Schonberg disease,... more...

Description from OMIM:46 607634, 611497, 611490, 259720, 612301 166600, 259710, 259730, 259700 more

Aliases & Classifications for Osteopetrosis

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8Disease Ontology, 42NIH Rare Diseases, 21Genetics Home Reference, 10DISEASES, 44Novoseek, 30LifeMap Discovery™, 60UMLS, 46OMIM, 34MeSH, 39NCIt, 27ICD9CM, 56SNOMED-CT
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Bone diseases


Aliases & Descriptions:

osteopetrosis 8 42 21 10 44 30
albers-schonberg disease 8 42 60
marble bone disease 42 21
albers-schonberg osteopetrosis 42
albers-schoenberg disease 42
congenital osteopetrosis 21
osteopetroses 21
marble bones 42
marble bone 8


Related Diseases for Osteopetrosis

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17GeneCards, 18GeneDecks
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Diseases in the Osteopetrosis family:

Clcn7-Related Osteopetrosis

Diseases related to Osteopetrosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 160)
idRelated DiseaseScoreTop Affiliating Genes
1osteopetrosis autosomal dominant type 230.6CLCN7, TNFSF11
2renal tubular acidosis30.6ATP6V1B1, CA2
3osteoporosis29.9CA2, TNFRSF11A, TNFSF11
4rheumatoid arthritis29.7TNFRSF11A, TNFSF11
5arthritis29.7TNFRSF11A, TNFSF11
6osteomyelitis10.5
7osteopetrosis autosomal recessive 110.5
8osteopetrosis autosomal dominant type 110.4
9osteopetrosis autosomal recessive 710.4
10osteopetrosis autosomal recessive 510.4
11osteopetrosis autosomal recessive 610.4
12cerebritis10.3
13osteopetrosis autosomal recessive 210.3
14osteopetrosis autosomal recessive 410.3
15autosomal dominant disease10.3
16osteosclerosis10.3
17osteopetrosis autosomal recessive 310.2
18microphthalmia10.2
19rickets10.2
20pycnodysostosis10.2
21osteopetrosis, autosomal recessive 3, with renal tubular acidosis10.2
22clcn7-related osteopetrosis10.2
23osteopetrosis with renal tubular acidosis10.1
24osteonecrosis10.0
25spondylolysis10.0
26hypercalcemia10.0
27craniometaphyseal dysplasia10.0
28craniosynostosis10.0
29hydrocephalus10.0
30hypertension10.0
31thrombocytopenia10.0
32thyroiditis10.0
33raine syndrome10.0
34tnfrsf11a- related autosomal recessive osteopetrosis10.0
35plekhm1-related autosomal recessive osteopetrosis10.0
36melorheostosis with osteopoikilosis10.0
37bone carcinoma10.0
38myelofibrosis10.0
39prostate disease10.0
40prostatitis10.0
41secondary syphilis10.0CLCN7, OSTM1, TNFSF11, TNFRSF11A
42nephrocalcinosis10.0ATP6V1B1, CA2
43paget disease, juvenile10.0TNFRSF11A, TNFSF11
44polyostotic osteolytic dysplasia, hereditary expansile10.0TNFRSF11A, TNFSF11
45renal tubular acidosis, distal10.0ATP6V1B1, CA2
46giant cell tumor10.0TNFSF11
47bone fracture10.0
48hypohidrotic ectodermal dysplasia10.0
49cushing's syndrome10.0
50paget's disease of bone10.0

Graphical network of the top 20 diseases related to Osteopetrosis:



Diseases related to osteopetrosis

Clinical Features for Osteopetrosis

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46OMIM
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Clinical features from OMIM:

607634,611497,611490,259720,612301,166600,259710,259730,259700

Drugs & Therapeutics for Osteopetrosis

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 30LifeMap Discovery™, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Osteopetrosis

Drug clinical trials:

Search ClinicalTrials for Osteopetrosis

Search NIH Clinical Center for Osteopetrosis

Search CenterWatch for Osteopetrosis

Inferred drug relations via UMLS60/NDF-RT40:

Cell-based therapeutics:


LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine
Read about Osteopetrosis cell therapies at LifeMap Discovery.

Genetic Tests for Osteopetrosis

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Anatomical Context for Osteopetrosis

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32MalaCards
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MalaCards organs/tissues related to Osteopetrosis:

32
Bone, Bone marrow, Brain, Thyroid, Lung, T cells, Adipocyte, Spleen, Colon, Lymph node, Skin, Myeloid, Monocytes, Liver

Animal Models for Osteopetrosis or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Osteopetrosis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000539010.3TCIRG1, CLCN7, ATP6V1B1, ATP6V0D2, OSTM1, TNFSF11

Publications for Osteopetrosis

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50PubMed
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Articles related to Osteopetrosis:

(show top 50)    (show all 537)
idTitleAuthorsYear
1
A case report of malignant infantile osteopetrosis. (23399783)
2012
2
Denosumab may reduce hypercalcaemia after transplantation for osteopetrosis. (23135199)
2012
3
Osteopetrosis of the temporal bone. (22314923)
2012
4
Autosomal dominant osteopetrosis type II. (22041388)
2011
5
Osteopetrosis-A rare entity with osteomyelitis. (23482851)
2011
6
The V-ATPase a3 subunit mutation R740S is dominant negative and results in osteopetrosis in mice. (21305608)
2011
7
Dysosteosclerosis presents as an "osteoclast-poor" form of osteopetrosis: comprehensive investigation of a 3-year-old girl and literature review. (20499338)
2010
8
A new modality of treatment for non-united fracture of the humerus in a patient with osteopetrosis: a case report. (19144137)
2009
9
Identification of the CLCN7 gene mutations in two Chinese families with autosomal dominant osteopetrosis (type II). (19288050)
2009
10
Refined genomic localization of the genetic lesion in the osteopetrosis (op) rat and exclusion of three positional and functional candidate genes, Clcn7, Atp6v0c, and Slc9a3r2. (19259722)
2009
11
Rheumatoid arthritis associated with osteopetrosis. (19657708)
2009
12
Successful unrelated cord blood transplantation in a girl with malignant infantile osteopetrosis. (18710648)
2008
13
Towards a better understanding and new therapeutics of osteopetrosis. (18241253)
2008
14
Bisphosphonate-induced osteopetrosis: novel bone modeling defects, metaphyseal osteopenia, and osteosclerosis fractures after drug exposure ceases. (18505375)
2008
15
Prognostic potential of precise molecular diagnosis of Autosomal Recessive Osteopetrosis with respect to the outcome of bone marrow transplantation. (19002772)
2008
16
Osteopetrosis: literature review and report of three cases. (18811081)
2008
17
Hematopoietic stem cell-targeted neonatal gene therapy reverses lethally progressive osteopetrosis in oc/oc mice. (17332244)
2007
18
A prosthetic management technique for osteopetrosis affecting the maxilla. (17645071)
2007
19
Marble bone disease: a review of osteopetrosis and its oral health implications for dentists. (18028760)
2007
20
Neonatal hematopoietic stem cell transplantation cures oc/oc mice from osteopetrosis. (16459192)
2006
21
Paget's disease of bone or osteopetrosis? (16234993)
2006
22
Familial malignant osteopetrosis in children: a case report. (16774187)
2006
23
Osteoclasts from patients with autosomal dominant osteopetrosis type I caused by a T253I mutation in low-density lipoprotein receptor-related protein 5 are normal in vitro, but have decreased resorption capacity in vivo. (16251418)
2005
24
Optic nerve compression in infantile malignant autosomal recessive osteopetrosis. (15305537)
2004
25
Carbonic anhydrase II deficiency syndrome (osteopetrosis with renal tubular acidosis and brain calcification): novel mutations in CA2 identified by direct sequencing expand the opportunity for genotype- phenotype correlation. (15300855)
2004
26
Osteopetrosis of the jaws. (15206256)
2004
27
Malignant infantile osteopetrosis initially presenting with neonatal hypocalcemia: case report. (12574970)
2003
28
Chloride channel 7 (ClCN7) gene mutations and autosomal dominant osteopetrosis, type II. (12929941)
2003
29
Application of interval haplotype analysis facilitates efficient mapping of the mutation causing osteopetrosis in tl rats. (12115032)
2002
30
HLA-haploidentical blood progenitor cell transplantation in osteopetrosis. (11964318)
2002
31
Difficult tracheal intubation of a patient with cervical fracture due to osteopetrosis. (11696156)
2001
32
Free fibular flap reconstruction in mandibular osteopetrosis. (11482622)
2001
33
Osteopetrosis of the maxilla. (11174587)
2001
34
Femoral fractures in osteopetrosis: case reports. (11706352)
2001
35
Increased induction of osteopetrosis, but unaltered lymphomagenicity, by murine leukemia virus SL3-3 after mutation of a nuclear factor 1 site in the enhancer. (10559359)
1999
36
Age-resolving osteopetrosis: a rat model implicating microphthalmia and the related transcription factor TFE3. (9480987)
1998
37
Human autosomal recessive osteopetrosis maps to 11q13, a position predicted by comparative mapping of the murine osteosclerosis (oc) mutation. (9700194)
1998
38
Hematopoietic stem cell transplantation for infantile osteopetrosis. (9849690)
1998
39
Autosomal dominant osteopetrosis: report of a Norwegian family with radiographic or anamnestic findings differing from the generally accepted classification. (9108228)
1997
40
Nutrition in patients with osteopetrosis on interferon gamma. (9433718)
1997
41
Molecular and pathogenic characterization of the RFB osteoma virus: lack of oncogene and induction of osteoma, osteopetrosis, and lymphoma. (8874513)
1996
42
Cytophilic immunoglobulin G binding on neutrophils from a child with malignant osteopetrosis who developed fatal acute respiratory distress mimicking transfusion-related acute lung injury. (8895692)
1996
43
Osteopetrosis, anemia, thrombocytopenia, and marrow necrosis in beef calves naturally infected with bovine virus diarrhea virus. (8580185)
1995
44
Valgus tibial osteotomy in a patient with benign dominant osteopetrosis (Albers-Schoenberg disease). A case report. (7852011)
1994
45
Infantile malignant osteopetrosis presenting as bilateral choanal atresia: Report of two cases. (17588000)
1993
46
Circulating macrophage colony-stimulating factor is not reduced in malignant osteopetrosis. (1577090)
1992
47
Malignant osteopetrosis: hypercalcaemia after bone marrow transplantation. (2039258)
1991
48
Elevated serum levels of creatine kinase BB in autosomal dominant osteopetrosis type II. (2070279)
1991
49
Mixed-sclerosing-bone-dystrophy (osteopathia striata and osteopetrosis) and Cushing's syndrome. (2390377)
1990
50
Mixed-sclerosing-bone-dystrophy: 42-year follow-up of a case reported as osteopetrosis. (3085895)
1986

Genetic Variations for Osteopetrosis

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Expression for genes affiliated with Osteopetrosis

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Osteopetrosis

Search GEO for disease gene expression data for Osteopetrosis.

Pathways for genes affiliated with Osteopetrosis

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12EMD Millipore, 37NCBI BioSystems Database, 29KEGG, 53Reactome
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Pathways related to Osteopetrosis according to GeneCards/GeneDecks:

(show all 14)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Transcription Role of VDR in regulation of genes involved in osteoporosis
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10.4TNFSF11, TNFRSF11A, CA2
210.4ATP6V1G1, TNFSF11, TNFRSF11A
310.3ATP6V0A2, ATP6V0C, ATP6V0B, ATP6V0D2, ATP6V0D1, TCIRG1
410.3ATP6V0A2, ATP6V0C, ATP6V0B, ATP6V0D2, ATP6V0D1, TCIRG1
5
Hide members
10.0ATP6V0B, ATP6V0C, ATP6V1G3, ATP6V0A2, ATP6V0E2, CA2
6
Hide members
10.0ATP6V1B1, ATP6V0D1, ATP6V1F, ATP6V1G2, ATP6V0D2, ATP6V1D
7
Hide members
10.0ATP6V1E2, ATP6V0B, ATP6V0C, ATP6V1G3, ATP6V0A2, ATP6V0E2
810.0ATP6V0A2, ATP6V0E2, ATP6V1G3, TCIRG1, ATP6V1B1, ATP6V0D1
9
Hide members
10.0ATP6V0E2, ATP6V0A2, ATP6V1G3, TCIRG1, ATP6V1B1, ATP6V0D1
1010.0TCIRG1, ATP6V1B1, ATP6V0D1, ATP6V1F, ATP6V1G2, ATP6V0D2
1110.0ATP6V0E2, ATP6V0A2, TCIRG1, ATP6V1B1, ATP6V0D1, ATP6V1F
12
Hide members
10.0ATP6V0E2, CA2, ATP6V0A2, ATP6V1G3, TCIRG1, ATP6V1B1
13
Hide members
10.0TCIRG1, CLCN7, ATP6V1B1, ATP6V0D1, ATP6V1F, ATP6V1G2
1410.0TCIRG1, TNFRSF11A, TNFSF11, ATP6V0E2, ATP6V1B1, ATP6V0D1

Compounds for genes affiliated with Osteopetrosis

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44Novoseek, 11DrugBank, 59Tocris Bioscience, 28IUPHAR, 24HMDB
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Compounds related to Osteopetrosis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1laccer4410.4TNFSF11, TNFRSF11A
2denosumab44 1111.3TNFRSF11A, TNFSF11
3concanamycin a44 5911.2ATP6V0E2, ATP6V1B1, ATP6V0D1, ATP6V1F, ATP6V1G2, ATP6V0D2
4disulfiram44 59 1112.2ATP6V0B, ATP6V0C, ATP6V1G3, ATP6V0A2, ATP6V0E2, ATP6V1E2
5bafilomycin a144 59 1112.1ATP6V1E2, ATP6V1G1, ATP6V1D, ATP6V0D2, ATP6V1G2, ATP6V1F
6polyethylene4410.1TNFSF11, TNFRSF11A
7adp44 28 2412.1ATP6V1E2, ATP6V0C, ATP6V1G3, ATP6V0A2, ATP6V0E2, ATP6V1G1
8Adenosine triphosphate11 2411.0ATP6V1E2, ATP6V0C, ATP6V1G3, ATP6V0A2, ATP6V0E2, ATP6V1G1

GO Terms for genes affiliated with Osteopetrosis

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16Gene Ontology
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Cellular components related to Osteopetrosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1proton-transporting V-type ATPase, V0 domainGO:03317910.4ATP6V0E2, ATP6V0C, ATP6V0B, ATP6V0D2, ATP6V0D1
2vacuolar proton-transporting V-type ATPase, V0 domainGO:00022010.4TCIRG1, ATP6V0A2
3phagocytic vesicle membraneGO:03067010.4ATP6V0E2, ATP6V0A2, ATP6V0C, ATP6V0B, ATP6V0D2, ATP6V0D1
4proton-transporting V-type ATPase, V1 domainGO:03318010.4ATP6V1B1, ATP6V1F
5vacuolar proton-transporting V-type ATPase complexGO:01647110.4ATP6V1B1, ATP6V1G3, ATP6V1G1, ATP6V1D, ATP6V0D2, ATP6V1G2
6lysosomal membraneGO:00576510.4OSTM1, ATP6V0A2, ATP6V0C, ATP6V1G1, ATP6V1D, ATP6V0D1
7endosome membraneGO:01000810.3ATP6V0E2, ATP6V0A2, ATP6V0C, ATP6V0B, ATP6V0D2, ATP6V0D1
8apical plasma membraneGO:01632410.2ATP6V0D2, ATP6V0D1, ATP6V1B1, TCIRG1
9cytosolGO:0058299.9CA2, OSTM1, ATP6V1G3, ATP6V1E2, ATP6V1G1, ATP6V1D

Biological processes related to Osteopetrosis according to GeneCards/GeneDecks:

(show all 19)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signalingGO:07184810.7TNFRSF11A, TNFSF11
2osteoclast differentiationGO:03031610.6TNFRSF11A, TNFSF11, OSTM1
3TNFSF11-mediated signaling pathwayGO:07184710.6TNFRSF11A, TNFSF11
4positive regulation of fever generation by positive regulation of prostaglandin secretionGO:07181210.6TNFRSF11A, TNFSF11
5ossificationGO:00150310.5ATP6V1B1, TNFSF11, TNFRSF11A
6response to pHGO:00926810.5CLCN7, CA2
7positive regulation of bone resorptionGO:04578010.5CA2, TNFSF11
8proton transportGO:01599210.5TCIRG1, ATP6V1B1, ATP6V0D1, ATP6V1F, ATP6V1D, ATP6V1G1
9ATP hydrolysis coupled proton transportGO:01599110.5ATP6V0B, ATP6V0C, ATP6V0A2, ATP6V0E2, ATP6V1E2, ATP6V0D2
10mammary gland alveolus developmentGO:06074910.4TNFSF11, TNFRSF11A
11calcium ion homeostasisGO:05507410.4ATP6V1B1, TNFSF11
12transferrin transportGO:03357210.3ATP6V1E2, ATP6V0B, ATP6V0C, ATP6V1G3, ATP6V0A2, ATP6V0E2
13monocyte chemotaxisGO:00254810.3TNFSF11, TNFRSF11A
14interaction with hostGO:05170110.3ATP6V1E2, ATP6V0B, ATP6V0C, ATP6V1G3, ATP6V0A2, ATP6V0E2
15phagosome maturationGO:09038210.3TCIRG1, ATP6V1B1, ATP6V0D1, ATP6V1F, ATP6V1G2, ATP6V0D2
16cellular iron ion homeostasisGO:00687910.3TCIRG1, ATP6V1B1, ATP6V0D1, ATP6V1F, ATP6V1G2, ATP6V0D2
17insulin receptor signaling pathwayGO:00828610.3ATP6V0C, ATP6V1G3, ATP6V0A2, ATP6V0E2, ATP6V0B, ATP6V1E2
18transmembrane transportGO:05508510.2TCIRG1, ATP6V0E2, OSTM1, ATP6V0A2, ATP6V1G3, CLCN7
19positive regulation of osteoclast differentiationGO:04567210.1TNFSF11, CA2

Molecular functions related to Osteopetrosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substancesGO:01682010.4ATP6V1B1, ATP6V1G1
2hydrogen ion transmembrane transporter activityGO:01507810.3TCIRG1, ATP6V1B1, ATP6V1F, ATP6V0D2, ATP6V0B, ATP6V0A2
3hydrogen-exporting ATPase activity, phosphorylative mechanismGO:00855310.2ATP6V1G3, ATP6V1E2, ATP6V1G2, ATP6V0D1
4proton-transporting ATPase activity, rotational mechanismGO:04696110.1ATP6V1F, ATP6V1E2, ATP6V0C

Products for genes affiliated with Osteopetrosis

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Osteopetrosis

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet