MCID: OST001
MIFTS: 66

Osteopetrosis malady

Genetic diseases, Rare diseases, Bone diseases categories
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Summaries for Osteopetrosis

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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 based summary: Osteopetrosis, also known as albers-schonberg disease, is related to osteomyelitis and osteopetrosis autosomal dominant type 2, and has symptoms including An important gene associated with Osteopetrosis is ATP6V0A2 (ATPase, H+ transporting, lysosomal V0 subunit a2), and among its related pathways are Osteoclast Signaling and Apoptosis and survival Anti apoptotic TNFs NF kB Bcl 2 pathway. 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: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:65 Osteopetrosis, literally \"stone bone\", also known as marble bone disease and Albers-Sch more...

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

Aliases & Classifications for Osteopetrosis

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Osteopetrosis, Aliases & Descriptions:

Name: Osteopetrosis 30 8 42 21 10 44
Albers-Schonberg Disease 8 42 62
Albers-Schoenberg Disease 42 62
Osteosclerosis Fragilis 42 62
Marble Bone Disease 42 21
 
Osteopetroses 42 21
Albers-Schonberg Osteopetrosis 42
Congenital Osteopetrosis 21
Marble Bones 42
Marble Bone 8


Classifications:

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


Related Diseases for Osteopetrosis

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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 166)
idRelated DiseaseScoreTop Affiliating Genes
1osteomyelitis31.4TNFSF11
2osteopetrosis autosomal dominant type 231.1TNFSF11, CLCN7
3paget's disease of bone30.2TNFRSF11A
4hypercalcemia30.0TNFSF11, TNFRSF11A
5osteoporosis29.9TNFRSF11A, CA2, TNFSF11
6osteopetrosis autosomal recessive 110.5
7renal tubular acidosis10.5
8osteopetrosis autosomal dominant type 110.5
9osteopetrosis autosomal recessive 210.5
10osteopetrosis autosomal recessive 710.5
11osteopetrosis autosomal recessive 510.4
12osteopetrosis autosomal recessive 610.4
13cerebritis10.4
14osteopetrosis autosomal recessive 310.4
15osteopetrosis autosomal recessive 410.4
16osteosclerosis10.3
17hematopoietic stem cell transplantation10.3
18osteopetrosis, autosomal recessive 3, with renal tubular acidosis10.3
19pycnodysostosis10.3
20microphthalmia10.3
21rickets10.3
22clcn7-related osteopetrosis10.2
23hydrocephalus10.2
24dysosteosclerosis10.2
25polyostotic osteolytic dysplasia, hereditary expansile10.1TNFSF11, TNFRSF11A
26paget disease, juvenile10.1TNFSF11, TNFRSF11A
27craniosynostosis10.1
28ectodermal dysplasia10.1
29hypertension10.1
30leukemia10.1
31thrombocytopenia10.1
32spondylolysis10.1
33craniometaphyseal dysplasia10.1
34thyroiditis10.1
35mixed sclerosing bone dystrophy10.1
36raine syndrome10.1
37slipped capital femoral epiphysis10.1
38melorheostosis with osteopoikilosis10.1
39myelofibrosis10.1
40prostatitis10.1
41osteoporosis, postmenopausal10.0TNFSF11, TNFRSF11A
42bone cancer10.0TNFRSF11A, TNFSF11
43periodontal disease10.0TNFSF11, TNFRSF11A
44lymphedema10.0
45osteonecrosis10.0
46pulmonary hypertension10.0
47hypohidrotic ectodermal dysplasia10.0
48gaucher's disease10.0
49osteopoikilosis10.0
50cushing's syndrome10.0

Graphical network of the top 20 diseases related to Osteopetrosis:



Diseases related to osteopetrosis

Symptoms for Osteopetrosis

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Clinical features from OMIM:

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

HPO human phenotypes related to Osteopetrosis:

(show all 42)
id Description Frequency HPO Source Accession
1 macrocephaly hallmark (90%) HP:0000256
2 hearing impairment hallmark (90%) HP:0000365
3 visual impairment hallmark (90%) HP:0000505
4 macrocephaly hallmark (90%) HP:0000256
5 hearing impairment hallmark (90%) HP:0000365
6 visual impairment hallmark (90%) HP:0000505
7 abnormality of the ribs hallmark (90%) HP:0000772
8 craniosynostosis hallmark (90%) HP:0001363
9 hypophosphatemia hallmark (90%) HP:0002148
10 bone pain hallmark (90%) HP:0002653
11 lymphadenopathy hallmark (90%) HP:0002716
12 osteomyelitis hallmark (90%) HP:0002754
13 recurrent fractures hallmark (90%) HP:0002757
14 hypocalcemia hallmark (90%) HP:0002901
15 abnormal cortical bone morphology hallmark (90%) HP:0003103
16 abnormal form of the vertebral bodies hallmark (90%) HP:0003312
17 reduced bone mineral density hallmark (90%) HP:0004349
18 abnormality of temperature regulation hallmark (90%) HP:0004370
19 cranial nerve paralysis hallmark (90%) HP:0006824
20 peripheral neuropathy hallmark (90%) HP:0009830
21 increased bone mineral density hallmark (90%) HP:0011001
22 abnormality of the vertebral epiphyses hallmark (90%) HP:0100734
23 bruising susceptibility typical (50%) HP:0000978
24 leukopenia typical (50%) HP:0001882
25 bone marrow hypocellularity typical (50%) HP:0005528
26 abnormality of immune system physiology typical (50%) HP:0010978
27 abnormality of the renal tubule occasional (7.5%) HP:0000091
28 mandibular prognathia occasional (7.5%) HP:0000303
29 chorioretinal abnormality occasional (7.5%) HP:0000532
30 nystagmus occasional (7.5%) HP:0000639
31 abnormality of the renal tubule occasional (7.5%) HP:0000091
32 mandibular prognathia occasional (7.5%) HP:0000303
33 chorioretinal abnormality occasional (7.5%) HP:0000532
34 nystagmus occasional (7.5%) HP:0000639
35 carious teeth occasional (7.5%) HP:0000670
36 abnormality of the pulmonary valve occasional (7.5%) HP:0001641
37 splenomegaly occasional (7.5%) HP:0001744
38 thrombocytopenia occasional (7.5%) HP:0001873
39 apnea occasional (7.5%) HP:0002104
40 osteoarthritis occasional (7.5%) HP:0002758
41 genu valgum occasional (7.5%) HP:0002857
42 cognitive impairment occasional (7.5%) HP:0100543

Drugs & Therapeutics for Osteopetrosis

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Drug clinical trials:

Search ClinicalTrials for Osteopetrosis

Search NIH Clinical Center for Osteopetrosis

Inferred drug relations via UMLS62/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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MalaCards organs/tissues related to Osteopetrosis:

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

Animal Models for Osteopetrosis or affiliated genes

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Publications for Osteopetrosis

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Articles related to Osteopetrosis:

(show top 50)    (show all 554)
idTitleAuthorsYear
1
As little as needed: the extraordinary case of a mild recessive osteopetrosis owing to a novel splicing hypomorphic mutation in the TCIRG1 gene. (24535816)
2014
2
A comparison of osteoclast-rich and osteoclast-poor osteopetrosis in adult mice sheds light on the role of the osteoclast in coupling bone resorption and bone formation. (24838599)
2014
3
Dental implants and osteomyelitis in a patient with osteopetrosis. (25126646)
2014
4
Malignant infantile osteopetrosis. (23901200)
2013
5
A case of autosomal dominant osteopetrosis type II with a novel TCIRG1 gene mutation. (23412864)
2013
6
Identification of two novel CLCN7 gene mutations in three Chinese families with autosomal dominant osteopetrosis typeA II. (23953223)
2013
7
Surgical treatment of an osteopetrotic patient with postoperative fractures: lessons from siblings with osteopetrosis. (23774327)
2013
8
Infantile osteomyelitis secondary to malignant osteopetrosis. (23449725)
2012
9
Denosumab for post-transplantation hypercalcemia in osteopetrosis. (23113501)
2012
10
Meox2Cre-mediated disruption of CSF-1 leads to osteopetrosis and osteocyte defects. (21958845)
2012
11
Osteopetrosis manifesting as recurrent bilateral facial palsy in childhood: a case report. (21106291)
2011
12
Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations. (19953639)
2010
13
Complications of anesthesia for children with malignant infantile osteopetrosis before and after hematopoietic stem cell transplantation. (20964772)
2010
14
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
15
A deletion mutation in bovine SLC4A2 is associated with osteopetrosis in Red Angus cattle. (20507629)
2010
16
Low-dose busulphan conditioning and neonatal stem cell transplantation preserves vision and restores hematopoiesis in severe murine osteopetrosis. (19100677)
2009
17
Osteopetrosis with micro-lacunar resorption because of defective integrin organization. (19546854)
2009
18
Optic canal diameter in infantile osteopetrosis. (19343974)
2009
19
Visual vignette. Malignant infantile osteopetrosis. (18463053)
2008
20
Osteopetrosis: "sandwich vertebrae". (18438475)
2008
21
Successful unrelated cord blood transplantation in a girl with malignant infantile osteopetrosis. (18710648)
2008
22
Airway evaluation and management in 7 children with malignant infantile osteopetrosis before hematopoietic stem cell transplantation. (18376286)
2008
23
A case of osteopetrosis with acute optic neuropathy. (18369707)
2008
24
Genetics, pathogenesis and complications of osteopetrosis. (17936098)
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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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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Pathways related to Osteopetrosis according to GeneCards/GeneDecks:

(show all 13)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.4TNFSF11, TNFRSF11A
2
Show member pathways
Apoptosis and survival Anti apoptotic TNFs NF kB IAP pathway60
9.4TNFRSF11A, TNFSF11
39.4TNFRSF11A, TNFSF11
4
Show member pathways
RANKL/RANK Signaling Pathway37
Apoptosis and survival APRIL and BAFF signaling60
9.4TNFRSF11A, TNFSF11
59.4TNFRSF11A, TNFSF11
6
Show member pathways
9.1ATP6V0E2, ATP6V0A2, TCIRG1
7
Show member pathways
Synaptic Vesicle Pathway37
9.1ATP6V0E2, TCIRG1, ATP6V0A2
8
Show member pathways
9.1TCIRG1, ATP6V0A2, ATP6V0E2
99.1ATP6V0A2, ATP6V0E2, TCIRG1
109.0TNFSF11, TNFRSF11A, CA2
11
Show member pathways
8.7ATP6V0A2, TCIRG1, CA2, ATP6V0E2
12
Show member pathways
8.4ATP6V0A2, OSTM1, CLCN7, TCIRG1, ATP6V0E2
138.1ATP6V0E2, ATP6V0A2, TNFRSF11A, TNFSF11, TCIRG1

Compounds for genes affiliated with Osteopetrosis

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Compounds related to Osteopetrosis according to GeneCards/GeneDecks:

(show all 15)
idCompoundScoreTop Affiliating Genes
1concanamycin a44 6110.9ATP6V0E2, ATP6V0A2
2bafilomycin a144 61 1111.8ATP6V0A2, ATP6V0E2
3disulfiram44 50 61 1112.8ATP6V0A2, ATP6V0E2
4denosumab44 1110.7TNFRSF11A, TNFSF11
5polyethylene449.7TNFSF11, TNFRSF11A
6laccer449.7TNFRSF11A, TNFSF11
7bicarbonate449.6CA2, TNFSF11
8raloxifene44 50 28 1112.6TNFRSF11A, TNFSF11
9hydroxyapatite449.3TNFSF11, TNFRSF11A
10Phosphate249.3TCIRG1, ATP6V0A2, ATP6V0E2
11celecoxib44 61 28 50 24 1114.3CA2, TNFSF11
12calcitriol44 61 24 1112.2TNFRSF11A, TNFSF11, CA2
13hydrogen44 2410.2TNFSF11, ATP6V0E2, CA2
14pge2449.0TNFRSF11A, TNFSF11, CA2
15Water248.9TCIRG1, CA2, ATP6V0A2, ATP6V0E2

GO Terms for genes affiliated with Osteopetrosis

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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:0100089.1ATP6V0A2, ATP6V0E2, TCIRG1
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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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet