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
See all sources

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
Generation of the first autosomal dominant osteopetrosis type II (ADO2) disease models. (24185277)
2014
2
Severe neuronopathic autosomal recessive osteopetrosis due to homozygous deletions affecting OSTM1. (23685543)
2013
3
Association of possible osteopetrosis with acute myeloid leukaemia in a child. (23921696)
2013
4
Impaired osteoclast differentiation and function and mild osteopetrosis development in Siglec-15-deficient mice. (23238125)
2013
5
Infantile osteomyelitis secondary to malignant osteopetrosis. (23449725)
2012
6
Uncovering the molecular and genetic basis of osteopetrosis. (23951511)
2012
7
Rac deletion in osteoclasts causes severe osteopetrosis. (22114304)
2011
8
Novel mutation of TCIRG1 and clinical pictures of two infantile malignant osteopetrosis patients. (21042819)
2011
9
Extramedullary hematopoiesis in osteopetrosis. (20970070)
2010
10
A novel NEMO gene mutation causing osteopetrosis, lymphoedema, hypohidrotic ectodermal dysplasia and immunodeficiency (OL-HED-ID). (20499091)
2010
11
Optic canal diameter in infantile osteopetrosis. (19343974)
2009
12
Infantile malignant, autosomal recessive osteopetrosis: the rich and the poor. (19082854)
2009
13
Mild autosomal recessive osteopetrosis: successful treatment with bone marrow transplant. (20954561)
2009
14
Maxillofacial aspects in malignant osteopetrosis. (19642767)
2009
15
Prospects for gene therapy of osteopetrosis. (19519360)
2009
16
Bilateral metal-on-metal hybrid hip resurfacing in a patient with osteopetrosis. A case report. (19952259)
2009
17
A novel CLCN7 mutation resulting in a most severe form of autosomal recessive osteopetrosis. (19238435)
2009
18
A case of osteopetrosis with acute optic neuropathy. (18369707)
2008
19
Osteopetrosis with Arnold Chiari malformation type I and brain stem compression. (17476090)
2007
20
Paravertebral extramedulary hematopoiesis arising with osteopetrosis tarda. (17878648)
2007
21
Transgenic mice with OIP-1/hSca overexpression targeted to the osteoclast lineage develop an osteopetrosis bone phenotype. (17940999)
2007
22
Engraftment and survival following hematopoietic stem cell transplantation for osteopetrosis using a reduced intensity conditioning regimen. (17086207)
2006
23
Malignant infantile osteopetrosis: a rare cause of neonatal hypocalcemia. (17252700)
2006
24
When bone becomes marble: Head and neck manifestations of osteopetrosis. (19030245)
2006
25
Malignant infantile osteopetrosis: dental effects in paediatric patients. Case reports. (16646644)
2006
26
Recalcitrant osteomyelitis following tooth extraction in a case of malignant osteopetrosis. (15633497)
2004
27
Osteoblast and osteoclast activity in a malignant infantile osteopetrosis patient following bone marrow transplantation. (14707702)
2004
28
Infantile osteopetrosis in four Thai infants. (15526726)
2004
29
Novel mutations in the TCIRG1 gene encoding the a3 subunit of the vacuolar proton pump in patients affected by infantile malignant osteopetrosis. (12552563)
2003
30
Bilateral asynchronous humeral shaft fractures in a patient with autosomal dominant osteopetrosis type II (Albers-Schonberg disease). (14700165)
2003
31
Developmental spectrum of children with congenital osteopetrosis. (17057432)
2003
32
The mutational spectrum of human malignant autosomal recessive osteopetrosis. (11532986)
2001
33
Human osteopetrosis and other sclerosing disorders: recent genetic developments. (11685426)
2001
34
Bilateral visual improvement after unilateral optic canal decompression and cranial vault expansion in a patient with osteopetrosis, narrowed optic canals, and increased intracranial pressure. (10991652)
2000
35
Dual-energy x-ray absorptiometry in osteopetrosis. (10832951)
2000
36
Atp6i-deficient mice exhibit severe osteopetrosis due to loss of osteoclast-mediated extracellular acidification. (10581033)
1999
37
Slipped capital femoral epiphysis in a patient with type II autosomal dominant osteopetrosis. (9809882)
1998
38
Distal phalangeal resorption in an adult with infantile malignant osteopetrosis: a case report. (9523972)
1998
39
Osteopetrosis and total hip arthroplasty. Report of two cases. (9498153)
1997
40
Recent developments in the understanding of the pathophysiology of osteopetrosis. (8630510)
1996
41
Petrous carotid canal stenosis in malignant osteopetrosis: CT documentation with MR angiographic correlation. (8668787)
1996
42
Maxillary osteomyelitis secondary to osteopetrosis. (9050105)
1996
43
Cortical bone remodeling in autosomal dominant osteopetrosis: a study of two different phenotypes. (8717539)
1996
44
Effects of macrophage colony-stimulating factor on macrophages and their related cell populations in the osteopetrosis mouse defective in production of functional macrophage colony-stimulating factor protein. (8701995)
1996
45
Radiographic type I autosomal dominant osteopetrosis with syringohydromyelia. (8880712)
1996
46
Bone scintigraphy and densitometry in children with osteopetrosis. (8674291)
1995
47
Normalization of mineral homeostasis after reversal of osteopetrosis. (7484288)
1995
48
Effects of macrophage colony-stimulating factor (M-CSF) on the development, differentiation, and maturation of marginal metallophilic macrophages and marginal zone macrophages in the spleen of osteopetrosis (op) mutant mice lacking functional M-CSF activity. (8182336)
1994
49
Growth hormone and IGF1 profile in short children with osteopetrosis. (8174311)
1994
50
Carbonic anhydrase II deficiency syndrome: recessive osteopetrosis with renal tubular acidosis and cerebral calcification. (3081869)
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
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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

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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