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, Lung, Thyroid, T cells, Spleen, Adipocyte, Monocytes, Myeloid, Skin, Lymph node, Liver, Colon

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
Exome sequencing identifies CTSK mutations in patients originally diagnosed as intermediate osteopetrosis. (24269275)
2014
2
Differentially expressed genes in autosomal dominant osteopetrosis type II osteoclasts reveal known and novel pathways for osteoclast biology. (24336069)
2013
3
Infantile malignant osteopetrosis: report of 2 cases with osteomyelitis of the jaws. (22828766)
2012
4
Hypercalcemia and altered biochemical bone markers in post-bone marrow transplantation osteopetrosis: a case report and literature review. (21323826)
2012
5
Aqueductal stenosis with optic atrophy in case of malignant osteopetrosis. (22346242)
2011
6
An alternative splicing variant in Clcn7-/- mice prevents osteopetrosis but not neural and retinal degeneration. (20448277)
2011
7
Oligodontia associated with osteopetrosis: a rare case report. (22041010)
2011
8
Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations. (19953639)
2010
9
Complications of anesthesia for children with malignant infantile osteopetrosis before and after hematopoietic stem cell transplantation. (20964772)
2010
10
Autosomal recessive osteopetrosis as an unusual cause of hydrocephalus, extensive calcification of tentorium cerebelli, and calvarial hyperostosis. (20367351)
2010
11
Successful haematopoietic stem cell transplantation for osteopetrosis due to TCRIG1 mutation. (20870624)
2010
12
Osteopetrosis and congenital hypothyroidism complicated by slipped capital femoral epiphysis. (20150025)
2010
13
Oculo-orbital manifestations of osteopetrosis in an Indian patient. (20507702)
2010
14
Increased connective tissue extracellular matrix in the op/op model of osteopetrosis. (19571609)
2009
15
Osteopetrosis-associated osteomyelitis of the jaws: a report of 4 cases. (19716493)
2009
16
Infantile osteopetrosis on head CT. (19104795)
2009
17
Case reports: treatment of subtrochanteric and ipsilateral femoral neck fractures in an adult with osteopetrosis. (18431613)
2008
18
Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL. (17632511)
2007
19
Infantile autosomal-recessive malignant osteopetrosis. (17592489)
2007
20
Conservative management of bilateral femoral neck fractures in a child with autosomal dominant osteopetrosis. (17639433)
2007
21
Small cell lung cancer in a young patient with osteopetrosis. (17260504)
2006
22
Bisphosphonates are associated with the development of exposed bone (osteonecrosis/osteopetrosis) in the oral cavity. (17174254)
2006
23
Otologic manifestations of malignant osteopetrosis. (16015181)
2005
24
Specific biochemical markers of bone metabolism and cytokine study confirm the diagnosis of malignant infantile osteopetrosis at birth using cord blood sample. (15875734)
2005
25
Total joint arthroplasty in patients with osteopetrosis: a report of 5 cases and review of the literature. (16139724)
2005
26
Long-term outcome of haematopoietic stem cell transplantation in autosomal recessive osteopetrosis: an EBMT report. (13130312)
2003
27
Bisphosphonate-induced osteopetrosis. (12890844)
2003
28
Targeted disruption of the mouse colony-stimulating factor 1 receptor gene results in osteopetrosis, mononuclear phagocyte deficiency, increased primitive progenitor cell frequencies, and reproductive defects. (11756160)
2002
29
Malignant osteopetrosis with rickets. (11271386)
2001
30
Osteopetrosis: a single centre experience of stem cell tranisplantation and prenatal diagnosis. (11281380)
2001
31
Mapping of autosomal dominant osteopetrosis type II (Albers-SchAPnberg disease) to chromosome 16p13.3. (11468688)
2001
32
Higher osteoclastic demineralization and highly mineralized cement lines with osteocalcin deposition in a mandibular cortical bone of autosomal dominant osteopetrosis type II: ultrastructural and undecalcified histological investigations. (10962350)
2000
33
Superoxide generation in transformed B-lymphocytes from patients with severe, malignant osteopetrosis. (10544947)
1999
34
Physiologic osteosclerosis versus osteopetrosis of the newborn. (10326179)
1999
35
Importance of neurological assessment before bone marrow transplantation for osteopetrosis. (10325711)
1999
36
Marble brain syndrome: osteopetrosis, renal acidosis and calcification of the brain. (9833897)
1998
37
Bone remodeling and macrophage differentiation in osteopetrosis (op) mutant mice defective in the production of macrophage colony-stimulating factor. (9648288)
1998
38
Osteopetrosis: pathogenesis and rationale for the use of interferon-I^-1b. (18031077)
1997
39
Demonstration of an osteoblast defect in two cases of human malignant osteopetrosis. Correction of the phenotype after bone marrow transplant. (8878435)
1996
40
Three sibs with mild variety of osteopetrosis. (9715315)
1996
41
Congenital stationary nightblindness in a patient with osteopetrosis. (8562556)
1995
42
Correction of anaemia and thrombocytopenia in a case of adult type I osteopetrosis with recombinant human erythropoietin (rHuEPO). (7772533)
1995
43
Long-term treatment of osteopetrosis with recombinant human interferon gamma. (7753137)
1995
44
Bone marrow transplantation for infantile malignant osteopetrosis. (7583393)
1995
45
Recessive osteopetrosis. Identification of a form of medium severity]. (1476480)
1992
46
Reduction of graft failure by a monoclonal antibody (anti-LFA-1 CD11a) after HLA nonidentical bone marrow transplantation in children with immunodeficiencies, osteopetrosis, and Fanconi's anemia: a European Group for Immunodeficiency/European Group for Bone Marrow Transplantation report. (1985691)
1991
47
Pycnodysostosis of Maroteaux and Lamy. Osteopetrosis acro-osteolytica. (868507)
1977
48
Congenital osseous dysplasias. Case reports of osteopetrosis and pycnodysostosis in Ibadan, Nigeria. (5581943)
1971
49
OSTEOPETROSIS (ALBERS-SCHOENBERG DISEASE, MARBLE BONES, OSTEOSCLEROSIS FRAGILIS GENERALISATA). (14342919)
1965
50
Osteopetrosis with multiple epiphyseal dysplasia. (14429997)
1960

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
210.4TNFSF11, TNFRSF11A, ATP6V1G1
310.3ATP6V0D2, ATP6V0C, ATP6V0D1, ATP6V0B, TCIRG1, ATP6V0A2
410.3ATP6V0A2, TCIRG1, ATP6V0D1, ATP6V0D2, ATP6V0B, ATP6V0C
5
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10.0ATP6V0A2, ATP6V1G3, ATP6V0C, ATP6V0B, ATP6V1E2, ATP6V1G1
610.0ATP6V0C, ATP6V1G3, ATP6V0A2, ATP6V0E2, ATP6V0D2, ATP6V1G2
7
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10.0ATP6V1G2, ATP6V1G3, ATP6V1G1, ATP6V0E2, ATP6V0D1, ATP6V1D
810.0ATP6V0D1, ATP6V1F, ATP6V1G2, ATP6V0D2, ATP6V1D, ATP6V1G1
9
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10.0ATP6V1B1, TCIRG1, ATP6V0D1, ATP6V1F, ATP6V0A2, ATP6V1G2
1010.0TCIRG1, ATP6V1B1, ATP6V0D1, ATP6V1F, ATP6V1G2, ATP6V0D2
11
Hide members
10.0ATP6V0E2, ATP6V0A2, TCIRG1, ATP6V1B1, ATP6V0D1, ATP6V1F
12
Hide members
10.0ATP6V1B1, ATP6V0D1, ATP6V1F, ATP6V1G2, ATP6V0D2, ATP6V1D
13
Hide members
10.0ATP6V0A2, ATP6V0E2, OSTM1, ATP6V1G3, ATP6V0C, ATP6V0B
1410.0TCIRG1, ATP6V1B1, ATP6V0D1, ATP6V1F, ATP6V1G2, ATP6V0D2

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