MCID: OST001
MIFTS: 63

Osteopetrosis malady

Genetic diseases, Rare diseases, Bone diseases categories

Summaries for Osteopetrosis

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9Disease Ontology, 22Genetics Home Reference, 44NIH Rare Diseases, 66Wikipedia, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 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 osteomyelitis and osteopetrosis autosomal dominant type 2. An important gene associated with Osteopetrosis is ATP6V0A2 (ATPase, H+ transporting, lysosomal V0 subunit a2), and among its related pathways are Osteoclast Signaling and NF-kappaB Signaling. The drug interferon gamma-1b and the compounds concanamycin a and bafilomycin a1 have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and brain, and related mouse phenotypes are integument and limbs/digits/tail.

Disease Ontology:9 An osteosclerosis that has material basis in lack of bone resorption which results in abnormally hard and brittle bones.

Genetics Home Reference:22 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:66 Osteopetrosis, literally \"stone bone\", also known as marble bone disease and Albers-Sch more...

Description from OMIM:48 611490, 166600, 611497, 259710, 259730 612301, 259720, 607634, 259700 more

Aliases & Classifications for Osteopetrosis

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9Disease Ontology, 44NIH Rare Diseases, 22Genetics Home Reference, 11DISEASES, 46Novoseek, 32LifeMap Discoveryā„¢, 63UMLS, 36MeSH, 59SNOMED-CT, 28ICD9CM, 48OMIM, 41NCIt
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Bone diseases


Aliases & Descriptions:

osteopetrosis 9 44 22 11 46 32
albers-schonberg disease 9 44 63
marble bone disease 44 22
osteopetroses 44 22
albers-schonberg osteopetrosis 44
albers-schoenberg disease 44
congenital osteopetrosis 22
osteosclerosis fragilis 44
marble bones 44
marble bone 9


Related Diseases for Osteopetrosis

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Sources:
18GeneCards, 19GeneDecks
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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 164)
idRelated DiseaseScoreTop Affiliating Genes
1osteomyelitis31.0TNFSF11
2osteopetrosis autosomal dominant type 230.8CLCN7, TNFSF11
3hypercalcemia30.1TNFSF11, TNFRSF11A
4osteoporosis30.0TNFRSF11A, TNFSF11, CA2
5paget's disease of bone29.9TNFRSF11A
6osteopetrosis autosomal recessive 110.5
7renal tubular acidosis10.4
8osteopetrosis autosomal dominant type 110.4
9osteopetrosis autosomal recessive 710.4
10osteopetrosis autosomal recessive 510.4
11osteopetrosis autosomal recessive 610.4
12cerebritis10.4
13osteopetrosis autosomal recessive 310.4
14osteopetrosis autosomal recessive 210.3
15osteopetrosis autosomal recessive 410.3
16osteosclerosis10.3
17hematopoietic stem cell transplantation10.3
18microphthalmia10.2
19rickets10.2
20pycnodysostosis10.2
21osteopetrosis, autosomal recessive 3, with renal tubular acidosis10.2
22clcn7-related osteopetrosis10.2
23dysosteosclerosis10.1
24osteonecrosis10.1
25craniometaphyseal dysplasia10.1
26craniosynostosis10.1
27hydrocephalus10.1
28hypertension10.1
29thrombocytopenia10.1
30thyroiditis10.1
31ectodermal dysplasia10.1
32mixed sclerosing bone dystrophy10.1
33raine syndrome10.1
34slipped capital femoral epiphysis10.1
35tnfrsf11a- related autosomal recessive osteopetrosis10.1
36plekhm1-related autosomal recessive osteopetrosis10.1
37melorheostosis with osteopoikilosis10.1
38myelofibrosis10.1
39prostatitis10.1
40paget disease, juvenile10.0TNFRSF11A, TNFSF11
41polyostotic osteolytic dysplasia, hereditary expansile10.0TNFRSF11A, TNFSF11
42osteoporosis, postmenopausal10.0TNFSF11, TNFRSF11A
43bone carcinoma10.0TNFSF11, TNFRSF11A
44periodontal disease10.0TNFSF11, TNFRSF11A
45spondylolysis10.0
46osteopoikilosis10.0
47hypohidrotic ectodermal dysplasia10.0
48cushing's syndrome10.0
49sost-related sclerosing bone dysplasia10.0
50cervicitis10.0

Graphical network of the top 20 diseases related to Osteopetrosis:



Diseases related to osteopetrosis

Symptoms for Osteopetrosis

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48OMIM
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Clinical features from OMIM:

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

Drugs & Therapeutics for Osteopetrosis

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 32LifeMap Discoveryā„¢, 63UMLS, 42NDF-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 UMLS63/NDF-RT42:

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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34MalaCards
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MalaCards organs/tissues related to Osteopetrosis:

34
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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38MGI
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Publications for Osteopetrosis

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53PubMed
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Articles related to Osteopetrosis:

(show top 50)    (show all 529)
idTitleAuthorsYear
1
Malignant infantile osteopetrosis. (23901200)
2013
2
A case of autosomal dominant osteopetrosis type II with a novel TCIRG1 gene mutation. (23412864)
2013
3
Identification of two novel CLCN7 gene mutations in three Chinese families with autosomal dominant osteopetrosis typeA II. (23953223)
2013
4
Surgical treatment of an osteopetrotic patient with postoperative fractures: lessons from siblings with osteopetrosis. (23774327)
2013
5
Infantile osteomyelitis secondary to malignant osteopetrosis. (23449725)
2012
6
Denosumab for post-transplantation hypercalcemia in osteopetrosis. (23113501)
2012
7
Meox2Cre-mediated disruption of CSF-1 leads to osteopetrosis and osteocyte defects. (21958845)
2012
8
Osteopetrosis manifesting as recurrent bilateral facial palsy in childhood: a case report. (21106291)
2011
9
Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations. (19953639)
2010
10
Complications of anesthesia for children with malignant infantile osteopetrosis before and after hematopoietic stem cell transplantation. (20964772)
2010
11
Customised femoral stems in osteopetrosis and the development of a guiding system for the preparation of an intramedullary cavity: a report of two cases. (20798453)
2010
12
A deletion mutation in bovine SLC4A2 is associated with osteopetrosis in Red Angus cattle. (20507629)
2010
13
Low-dose busulphan conditioning and neonatal stem cell transplantation preserves vision and restores hematopoiesis in severe murine osteopetrosis. (19100677)
2009
14
Osteopetrosis with micro-lacunar resorption because of defective integrin organization. (19546854)
2009
15
Optic canal diameter in infantile osteopetrosis. (19343974)
2009
16
A new modality of treatment for non-united fracture of the humerus in a patient with osteopetrosis: a case report. (19144137)
2009
17
Maxillomandibular osteomyelitis in osteopetrosis. Report of a case and review of the literature. (19219469)
2009
18
Visual vignette. Malignant infantile osteopetrosis. (18463053)
2008
19
Osteopetrosis: "sandwich vertebrae". (18438475)
2008
20
Successful unrelated cord blood transplantation in a girl with malignant infantile osteopetrosis. (18710648)
2008
21
Airway evaluation and management in 7 children with malignant infantile osteopetrosis before hematopoietic stem cell transplantation. (18376286)
2008
22
A case of osteopetrosis with acute optic neuropathy. (18369707)
2008
23
Genetics, pathogenesis and complications of osteopetrosis. (17936098)
2008
24
Towards a better understanding and new therapeutics of osteopetrosis. (18241253)
2008
25
Clinical profile of osteopetrosis in children in Karachi. (17374301)
2007
26
Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL. (17632511)
2007
27
Radiography of successful bone marrow transplantation for osteopetrosis. (16799785)
2007
28
Quantitative bone mineral density assessment in malignant infantile osteopetrosis. (16421907)
2007
29
A middle-aged man with monoclonal gammopathy and osteopetrosis. (17691563)
2007
30
Autosomal dominant osteopetrosis: clinical severity and natural history of 94 subjects with a chloride channel 7 gene mutation. (17164308)
2007
31
Osteopetrosis complicated by osteomyelitis of the mandible: a case report including characterization of the osteopetrotic bone. (17011167)
2007
32
Neonatal hematopoietic stem cell transplantation cures oc/oc mice from osteopetrosis. (16459192)
2006
33
Disease status in autosomal dominant osteopetrosis type 2 is determined by osteoclastic properties. (16813529)
2006
34
Images in clinical medicine. Osteopetrosis type II. (16495397)
2006
35
Type II benign osteopetrosis (Albers-SchAPnberg disease) caused by a novel mutation in CLCN7 presenting with unusual clinical manifestations. (14564431)
2004
36
Hematological defects in the oc/oc mouse, a model of infantile malignant osteopetrosis. (15284856)
2004
37
Application of interval haplotype analysis facilitates efficient mapping of the mutation causing osteopetrosis in tl rats. (12115032)
2002
38
Association of severe autosomal recessive osteopetrosis and Dandy-Walker syndrome with agenesis of the corpus callosum. (11822087)
2001
39
Malignant osteopetrosis with rickets. (11271386)
2001
40
Superoxide generation in transformed B-lymphocytes from patients with severe, malignant osteopetrosis. (10544947)
1999
41
Mechanisms of osteoclast dysfunction in human osteopetrosis: abnormal osteoclastogenesis and lack of osteoclast-specific adhesion structures. (10620070)
1999
42
Slipped capital femoral epiphysis in a patient with type II autosomal dominant osteopetrosis. (9809882)
1998
43
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
44
Recent developments in the understanding of the pathophysiology of osteopetrosis. (8630510)
1996
45
Osteopetrosis, anemia, thrombocytopenia, and marrow necrosis in beef calves naturally infected with bovine virus diarrhea virus. (8580185)
1995
46
Radiologic manifestations of osteopetrosis. (8575237)
1995
47
Congenital stationary nightblindness in a patient with osteopetrosis. (8562556)
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
Case report 718. Osteopetrosis with carbonic anhydrase II deficiency. (1566113)
1992
50
Malignant osteopetrosis: hypercalcaemia after bone marrow transplantation. (2039258)
1991

Variations for Osteopetrosis

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Expression for genes affiliated with Osteopetrosis

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2BioGPS, 16Gene 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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51PathCards, 39NCBI BioSystems Database, 5Cell Signaling Technology, 54QIAGEN, 61Thomson Reuters, 31KEGG, 56Reactome
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Pathways related to Osteopetrosis according to GeneCards/GeneDecks:

(show all 13)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.4TNFSF11, TNFRSF11A
29.4TNFSF11, TNFRSF11A
3
Show member pathways
RANKL/RANK Signaling Pathway39
Apoptosis and survival APRIL and BAFF signaling61
9.4TNFSF11, TNFRSF11A
4
Show member pathways
Apoptosis and survival Anti apoptotic TNFs NF kB IAP pathway61
9.4TNFRSF11A, TNFSF11
59.4TNFRSF11A, TNFSF11
69.1ATP6V0E2, ATP6V0A2, TCIRG1
7
Show member pathways
Synaptic Vesicle Pathway39
9.1ATP6V0E2, ATP6V0A2, TCIRG1
8
Show member pathways
9.1TCIRG1, ATP6V0A2, ATP6V0E2
9
Show member pathways
9.1TCIRG1, ATP6V0A2, ATP6V0E2
109.0CA2, TNFSF11, TNFRSF11A
11
Show member pathways
8.7ATP6V0E2, ATP6V0A2, TCIRG1, CA2
12
Show member pathways
8.4ATP6V0E2, ATP6V0A2, OSTM1, CLCN7, TCIRG1
138.1TCIRG1, TNFSF11, TNFRSF11A, ATP6V0A2, ATP6V0E2

Compounds for genes affiliated with Osteopetrosis

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46Novoseek, 62Tocris Bioscience, 12DrugBank, 52PharmGKB, 30IUPHAR, 25HMDB
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Compounds related to Osteopetrosis according to GeneCards/GeneDecks:

(show all 15)
idCompoundScoreTop Affiliating Genes
1concanamycin a46 6210.9ATP6V0A2, ATP6V0E2
2bafilomycin a146 62 1211.8ATP6V0E2, ATP6V0A2
3disulfiram46 52 62 1212.8ATP6V0A2, ATP6V0E2
4denosumab46 1210.7TNFSF11, TNFRSF11A
5polyethylene469.7TNFSF11, TNFRSF11A
6laccer469.7TNFRSF11A, TNFSF11
7bicarbonate469.6CA2, TNFSF11
8raloxifene46 52 30 1212.6TNFSF11, TNFRSF11A
9hydroxyapatite469.3TNFSF11, TNFRSF11A
10Phosphate259.3TCIRG1, ATP6V0A2, ATP6V0E2
11celecoxib46 62 30 52 25 1214.3CA2, TNFSF11
12calcitriol46 62 25 1212.2CA2, TNFSF11, TNFRSF11A
13hydrogen46 2510.2CA2, TNFSF11, ATP6V0E2
14pge2469.0TNFRSF11A, TNFSF11, CA2
15Water258.9ATP6V0E2, ATP6V0A2, TCIRG1, CA2

GO Terms for genes affiliated with Osteopetrosis

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17Gene Ontology
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Cellular components related to Osteopetrosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1vacuolar proton-transporting V-type ATPase, V0 domainGO:0002209.3TCIRG1, ATP6V0A2
2endosome membraneGO:0100089.1TCIRG1, ATP6V0A2, ATP6V0E2
3phagocytic vesicle membraneGO:0306709.0ATP6V0E2, ATP6V0A2, TCIRG1
4lysosomal membraneGO:0057658.9TCIRG1, CLCN7, OSTM1, ATP6V0A2

Biological processes related to Osteopetrosis according to GeneCards/GeneDecks:

(show all 19)
idNameGO IDScoreTop Affiliating Genes
1response to pHGO:0092689.8CA2, CLCN7
2positive regulation of bone resorptionGO:0457809.8CA2, TNFSF11
3positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signalingGO:0718489.7TNFRSF11A, TNFSF11
4TNFSF11-mediated signaling pathwayGO:0718479.7TNFRSF11A, TNFSF11
5positive regulation of fever generation by positive regulation of prostaglandin secretionGO:0718129.7TNFRSF11A, TNFSF11
6positive regulation of osteoclast differentiationGO:0456729.6TNFSF11, CA2
7mammary gland alveolus developmentGO:0607499.6TNFSF11, TNFRSF11A
8monocyte chemotaxisGO:0025489.5TNFSF11, TNFRSF11A
9positive regulation of sequence-specific DNA binding transcription factor activityGO:0510919.4TNFSF11, TNFRSF11A
10ATP hydrolysis coupled proton transportGO:0159919.4ATP6V0E2, ATP6V0A2, TCIRG1
11osteoclast differentiationGO:0303169.4OSTM1, TNFSF11, TNFRSF11A
12transferrin transportGO:0335729.4TCIRG1, ATP6V0A2, ATP6V0E2
13interaction with hostGO:0517019.4ATP6V0E2, ATP6V0A2, TCIRG1
14phagosome maturationGO:0903829.4ATP6V0E2, ATP6V0A2, TCIRG1
15tumor necrosis factor-mediated signaling pathwayGO:0332099.3TNFSF11, TNFRSF11A
16cellular iron ion homeostasisGO:0068799.3ATP6V0E2, ATP6V0A2, TCIRG1
17insulin receptor signaling pathwayGO:0082869.3ATP6V0E2, ATP6V0A2, TCIRG1
18ossificationGO:0015039.1TNFSF11, TNFRSF11A
19transmembrane transportGO:0550858.7TCIRG1, CLCN7, OSTM1, ATP6V0A2, ATP6V0E2

Molecular functions related to Osteopetrosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1hydrogen ion transmembrane transporter activityGO:0150789.1TCIRG1, ATP6V0A2, ATP6V0E2

Products for genes affiliated with Osteopetrosis

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  • Antibodies
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Sources for Osteopetrosis

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet