MCID: OST001
MIFTS: 59

Osteopetrosis malady

Bone category

Summaries for Osteopetrosis

Sources:
8Disease Ontology, 43NIH Rare Diseases, 21Genetics Home Reference, 64Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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 marrow, whole blood and lymph node, 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:64 Osteopetrosis, literally \"stone bone\", also known as marble bone disease and Albers-Schonberg disease... more...

Description from OMIM:47 607634, 611497, 611490, 259720, 612301 166600, 259710, 259730, 259700 more

Aliases & Classifications for Osteopetrosis

Sources:
8Disease Ontology, 43NIH Rare Diseases, 21Genetics Home Reference, 10DISEASES, 45Novoseek, 31LifeMap Discovery™, 61UMLS, 47OMIM, 35MeSH, 40NCIt, 27ICD9CM, 57SNOMED-CT
See all sources

Classifications:

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


Aliases & Descriptions:

osteopetrosis 8 43 21 10 45 31
albers-schonberg disease 8 43 61
marble bone disease 43 21
albers-schonberg osteopetrosis 43
albers-schoenberg disease 43
congenital osteopetrosis 21
osteopetroses 21
marble bones 43
marble bone 8


Related Diseases for Osteopetrosis

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Osteopetrosis family:

osteopetrosis with renal tubular acidosis

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

(show top 50)    (show all 145)
idRelated DiseaseScoreTop Affiliating Genes
1osteopetrosis autosomal dominant type 230.6CLCN7, TNFSF11
2renal tubular acidosis30.6ATP6V1B1, CA2
3renal tubular acidosis, distal29.9ATP6V1B1, CA2
4osteoporosis29.9CA2, TNFRSF11A, TNFSF11
5arthritis29.7TNFRSF11A, TNFSF11
6osteopetrosis autosomal recessive 110.5
7osteopetrosis autosomal dominant type 110.4
8osteopetrosis autosomal recessive 710.4
9osteopetrosis autosomal recessive 610.4
10osteopetrosis autosomal recessive 210.3
11osteopetrosis autosomal recessive 410.3
12osteopetrosis autosomal recessive 510.3
13autosomal dominant disease10.3
14osteopetrosis autosomal recessive 310.3
15intermediate autosomal osteopetrosis10.3
16hematopoietic stem cell transplantation10.3
17microphthalmia10.2
18rickets10.2
19pycnodysostosis10.2
20clcn7-related osteopetrosis10.2
21osteopetrosis, autosomal recessive 3, with renal tubular acidosis10.2
22dysosteosclerosis10.1
23osteonecrosis10.1
24spondylolysis10.1
25hypercalcemia10.1
26craniometaphyseal dysplasia10.1
27thrombocytopenia10.1
28ectodermal dysplasia10.1
29mixed sclerosing bone dystrophy10.1
30slipped capital femoral epiphysis10.1
31osteopetrosis with renal tubular acidosis10.1
32tnfrsf11a- related autosomal recessive osteopetrosis10.1
33plekhm1-related autosomal recessive osteopetrosis10.1
34infantile osteopetrosis with neuroaxonal dysplasia10.1
35bone carcinoma10.1
36rheumatoid arthritis10.0TNFRSF11A, TNFSF11
37secondary syphilis10.0CLCN7, OSTM1, TNFSF11, TNFRSF11A
38nephrocalcinosis10.0ATP6V1B1, CA2
39paget disease, juvenile10.0TNFRSF11A, TNFSF11
40polyostotic osteolytic dysplasia, hereditary expansile10.0TNFRSF11A, TNFSF11
41bone fracture10.0
42hypohidrotic ectodermal dysplasia10.0
43cushing's syndrome10.0
44osteopoikilosis10.0
45sost-related sclerosing bone dysplasia10.0
46raine syndrome10.0
47hydrocephalus autosomal recessive10.0
48oto-palato-digital syndrome type 110.0
49osteopetrosis and infantile neuroaxonal dystrophy10.0
50tcirg1-related autosomal recessive osteopetrosis10.0

Graphical network of the top 20 diseases related to Osteopetrosis:



Diseases related to osteopetrosis

Clinical Features for Osteopetrosis

Sources:
47OMIM
See all sources

Clinical features from OMIM:

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

Drugs & Therapeutics for Osteopetrosis

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 31LifeMap Discovery™, 61UMLS, 41NDF-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 UMLS61/NDF-RT41:

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

Anatomical Context for Osteopetrosis

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Osteopetrosis:

33
Bone marrow, Whole blood, Lymph node, Spleen, Brain, Spinal cord, Colon, Adipocyte, Liver, Lung, Thyroid, Skin, Myeloid, Monocytes, T cells, B cells

Animal Models for Osteopetrosis or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Osteopetrosis:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000539010.3TCIRG1, CLCN7, ATP6V1B1, ATP6V0D2, OSTM1, TNFSF11

Publications for Osteopetrosis

Sources:
51PubMed
See all sources

Articles related to Osteopetrosis:

(show top 50)    (show all 538)
idTitleAuthorsYear
1
Treatment of bilateral simultaneous subtrochanteric femur fractures with proximal femoral nail antirotation (PFNA) in a patient with osteopetrosis: case report and review of the literature. (22868699)
2013
2
Osteopetrosis, hypophosphatemia, and phosphaturia in a young man: a case presentation and differential diagnosis. (22934198)
2012
3
A newly described mutation of the CLCN7 gene causes neuropathic autosomal recessive osteopetrosis in an Arab family. (21946807)
2012
4
Infantile osteopetrosis and juvenile xanthogranuloma presenting together in a newborn: a case report and literature review. (21054159)
2011
5
Late-onset Visual Loss in Osteopetrosis. (22087385)
2011
6
Endoscopic third ventriculostomy for the treatment of osteopetrosis-related hydrocephalus: a case-based update. (21552996)
2011
7
Osteopetrosis with Chiari I malformation: presentation and surgical management. (21456907)
2011
8
Management of subtrochanteric femur fractures with internal fixation and recombinant human bone morphogenetic protein-7 in a patient with osteopetrosis: a case report. (20482845)
2010
9
"Challenges in the management of fractures in osteopetrosis"! Review of literature and technical tips learned from long-term management of seven patients. (19576583)
2009
10
Osteopetrosis--more than only a disease of the bone. (19536849)
2009
11
Osteopetrosis complicated by osteomyelitis of the maxilla and mandible: light and electron microscopic findings. (20596853)
2009
12
Visual vignette. Malignant infantile osteopetrosis. (18463053)
2008
13
A case of concomitant autosomal recessive osteopetrosis and G6PD deficiency. (17940770)
2008
14
Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations. (18606301)
2008
15
Clinical profile of osteopetrosis in children in Karachi. (17374301)
2007
16
A middle-aged man with monoclonal gammopathy and osteopetrosis. (17691563)
2007
17
Neuroimaging findings in malignant infantile osteopetrosis due to OSTM1 mutations. (17985267)
2007
18
Expansion cranioplasty with jackscrew distracters for craniosynostosis and intracranial hypertension in transplanted osteopetrosis. (17337920)
2007
19
Disease status in autosomal dominant osteopetrosis type 2 is determined by osteoclastic properties. (16813529)
2006
20
Osteopetrosis. (15895702)
2005
21
Effects of catecholamines on blood pressure in the long bone marrow cavity in rats with bisphosphonate-induced osteopetrosis. (16227646)
2005
22
Esophagectomy and splenectomy in a patient with osteopetrosis. (15942603)
2005
23
Osteopetrosis--a review and report of two cases. (15641967)
2005
24
Malignant infantile osteopetrosis and primary pulmonary hypertension: a new combination? (14752886)
2004
25
Severe malignant osteopetrosis caused by a GL gene mutation. (15177004)
2004
26
Dental development after successful treatment of infantile osteopetrosis with bone marrow transplantation. (11960278)
2002
27
Novel mutations in the a3 subunit of vacuolar H(+)-adenosine triphosphatase in a Japanese patient with infantile malignant osteopetrosis. (11856654)
2002
28
A benign form of osteopetrosis. Case report]. (11699297)
2001
29
Osteomyelitis complicating osteopetrosis--a case report. (11862853)
2001
30
Apparent cure of a newborn with malignant osteopetrosis using prednisone therapy. (11760852)
2001
31
Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis. (10888887)
2000
32
Reversal of optic canal stenosis in osteopetrosis after bone marrow transplant. (11020426)
2000
33
Mechanisms of osteoclast dysfunction in human osteopetrosis: abnormal osteoclastogenesis and lack of osteoclast-specific adhesion structures. (10620070)
1999
34
Renal tubular acidosis and osteopetrosis. (10229010)
1999
35
Bone mineral density and laboratory evaluation of a type II autosomal dominant osteopetrosis carrier. (10377007)
1999
36
Renal tubular acidosis and osteopetrosis with carbonic anhydrase II deficiency. (9630052)
1998
37
Osteopetrosis (Albers-Schonberg): appearance on three-phase bone scintigraphy. (9408655)
1997
38
Spondylolysis in children who have osteopetrosis. (9384428)
1997
39
Neonatal changes of osteoclasts in osteopetrosis (op/op) mice defective in production of functional macrophage colony-stimulating factor (M-CSF) protein and effects of M-CSF on osteoclast development and differentiation. (8929623)
1996
40
Animal models of osteopetrosis: the impact of recent molecular developments on novel strategies for therapeutic intervention. (8796921)
1996
41
Extramedullary hematopoiesis assessment in a patient with osteopetrosis. (7895447)
1995
42
Infantile osteopetrosis complicated by rickets. (7726058)
1995
43
Megadose methylprednisolone treatment for malignant osteopetrosis. (7813540)
1994
44
Malignant osteopetrosis: c-src kinase is not reduced in fibroblasts. (7688650)
1993
45
CLCN7-Related Osteopetrosis (20301306)
1993
46
Mineral metabolism in infants with malignant osteopetrosis: heterogeneity in plasma 1,25-dihydroxyvitamin D levels and bone histology. (1549952)
1992
47
Case report 668. Carbonic anhydrase II deficiency syndrome (osteopetrosis associated with renal tubular acidosis and cerebral calcification). (1925679)
1991
48
The syndrome of osteopetrosis, renal acidosis and cerebral calcification in two sisters. (3221988)
1988
49
Avian nephroblastoma virus MAV-2(N) and avian osteopetrosis virus MAV-2(O) are genetically distinct. (6284866)
1982
50
Osteopetrosis with syndactyly; a morphological variant of Albers-SchAPnberg's disease. (13539104)
1958

Genetic Variations for Osteopetrosis

Expression for genes affiliated with Osteopetrosis

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
12EMD Millipore, 38NCBI BioSystems Database, 30KEGG, 54Reactome
See all sources

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
Hide members
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

Sources:
45Novoseek, 11DrugBank, 60Tocris Bioscience, 29IUPHAR, 24HMDB
See all sources

Compounds related to Osteopetrosis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1laccer4510.4TNFSF11, TNFRSF11A
2denosumab45 1111.3TNFRSF11A, TNFSF11
3concanamycin a45 6011.2ATP6V0E2, ATP6V1B1, ATP6V0D1, ATP6V1F, ATP6V1G2, ATP6V0D2
4disulfiram45 60 1112.2ATP6V0B, ATP6V0C, ATP6V1G3, ATP6V0A2, ATP6V0E2, ATP6V1E2
5bafilomycin a145 60 1112.1ATP6V1E2, ATP6V1G1, ATP6V1D, ATP6V0D2, ATP6V1G2, ATP6V1F
6polyethylene4510.1TNFSF11, TNFRSF11A
7adp45 29 2412.1ATP6V1E2, ATP6V0C, ATP6V1G3, ATP6V0A2, ATP6V0E2, ATP6V1G1
8Adenosine triphosphate11 2411.0ATP6V1E2, ATP6V0C, ATP6V1G3, ATP6V0A2, ATP6V0E2, ATP6V1G1

GO Terms for genes affiliated with Osteopetrosis

Sources:
16Gene Ontology
See all sources

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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  • Proteins
  • Lysates
  • Antibodies

Sources for Osteopetrosis

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet