MCID: OST001
MIFTS: 65

Osteopetrosis malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases, Eye diseases, Blood diseases categories

Aliases & Classifications for Osteopetrosis

About this section

Aliases & Descriptions for Osteopetrosis:

Name: Osteopetrosis 30 8 42 21 10 44
Albers-Schonberg Disease 8 42 61
Congenital Osteopetrosis 21 61
Marble Bone Disease 42 21
Osteopetroses 42 21
 
Albers-Schonberg Osteopetrosis 42
Albers-Schoenberg Disease 42
Osteosclerosis Fragilis 42
Marble Bones 42
Marble Bone 8


Classifications:



External Ids:

Disease Ontology8 DOID:13533
NCIt39 C26840
ICD9CM27 756.52
ICD1025 Q78.2

Summaries for Osteopetrosis

About this section
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 2, and has symptoms including macrocephaly, hearing impairment and visual impairment. 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: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-Sch more...

Related Diseases for Osteopetrosis

About this section

Diseases in the Osteopetrosis family:

Osteopetrosis, Autosomal Recessive 5 Osteopetrosis, Autosomal Recessive 8
Osteopetrosis, Autosomal Dominant 1 Osteopetrosis, Autosomal Recessive 1
Osteopetrosis, Autosomal Recessive 2 Osteopetrosis, Autosomal Dominant 2
Osteopetrosis, Autosomal Recessive 6 Osteopetrosis, Autosomal Recessive 7
Osteopetrosis, Autosomal Recessive 4 Clcn7-Related Osteopetrosis
Tcirg1-Related Autosomal Recessive Osteopetrosis Ostm1-Related Autosomal Recessive Osteopetrosis
Tnfsf11-Related Autosomal Recessive Osteopetrosis Plekhm1-Related Autosomal Recessive Osteopetrosis
Lrp5-Related Autosomal Dominant Osteopetrosis Infantile Malignant Clcn7-Related Autosomal Recessive Osteopetrosis
Intermediate Autosomal Osteopetrosis Intermediate Osteopetrosis

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

(show top 50)    (show all 166)
idRelated DiseaseScoreTop Affiliating Genes
1osteomyelitis31.4TNFSF11
2osteopetrosis, autosomal dominant 231.1TNFSF11, CLCN7
3osteoporosis30.1TNFSF11, TNFRSF11A
4hypercalcemia30.0TNFSF11, TNFRSF11A
5osteopetrosis, autosomal recessive 410.5
6osteopetrosis, autosomal recessive 110.5
7osteopetrosis, autosomal recessive 710.5
8osteopetrosis, autosomal recessive 3, with renal tubular acidosis10.5
9osteopetrosis, autosomal dominant 110.5
10renal tubular acidosis10.5
11osteopetrosis, autosomal recessive 510.4
12osteopetrosis, autosomal recessive 610.4
13osteopetrosis, autosomal recessive 210.4
14cerebritis10.4
15hematopoietic stem cell transplantation10.4
16intermediate osteopetrosis10.3
17rickets10.3
18pycnodysostosis10.3
19microphthalmia10.3
20clcn7-related osteopetrosis10.3
21paget disease of bone10.2TNFRSF11A
22ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency10.2
23osteopetrosis, autosomal recessive 810.2
24hydrocephalus10.2
25osteolysis, familial expansile10.1TNFSF11, TNFRSF11A
26paget disease, juvenile10.1TNFSF11, TNFRSF11A
27raine syndrome10.1
28craniosynostosis10.1
29ectodermal dysplasia10.1
30leukemia10.1
31osteonecrosis10.1
32thrombocytopenia10.1
33spondylolysis10.1
34melorheostosis10.1
35thyroiditis10.1
36astley-kendall syndrome10.1
37dysosteosclerosis10.1
38mixed sclerosing bone dystrophy10.1
39osteopetrosis and infantile neuroaxonal dystrophy10.1
40slipped capital femoral epiphysis10.1
41tcirg1-related autosomal recessive osteopetrosis10.1
42ostm1-related autosomal recessive osteopetrosis10.1
43tnfsf11-related autosomal recessive osteopetrosis10.1
44tnfrsf11a- related autosomal recessive osteopetrosis10.1
45plekhm1-related autosomal recessive osteopetrosis10.1
46lrp5-related autosomal dominant osteopetrosis10.1
47infantile malignant clcn7-related autosomal recessive osteopetrosis10.1
48intermediate autosomal osteopetrosis10.1
49myelofibrosis10.1
50prostatitis10.1

Graphical network of the top 20 diseases related to Osteopetrosis:



Diseases related to osteopetrosis

Symptoms for Osteopetrosis

About this section

HPO human phenotypes related to Osteopetrosis:

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

Drugs & Therapeutics for Osteopetrosis

About this section

Drug clinical trials:

Search ClinicalTrials for Osteopetrosis

Search NIH Clinical Center for Osteopetrosis

Inferred drug relations via UMLS61/NDF-RT40:

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Osteopetrosis cell therapies at LifeMap Discovery.

Genetic Tests for Osteopetrosis

About this section

Anatomical Context for Osteopetrosis

About this section

MalaCards organs/tissues related to Osteopetrosis:

31
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

About this section

Publications for Osteopetrosis

About this section

Articles related to Osteopetrosis:

(show top 50)    (show all 569)
idTitleAuthorsYear
1
Rapid skeletal turnover in radiographic mimic of osteopetrosis might be secondary to systemic mastocytosis. (25639963)
2015
2
Buried in the Middle, But Guilty: Intronic Mutations in the TCIRG1 Gene Cause Human Autosomal Recessive Osteopetrosis. (25829125)
2015
3
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
4
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
5
Dental implants and osteomyelitis in a patient with osteopetrosis. (25126646)
2014
6
Malignant infantile osteopetrosis. (23901200)
2013
7
A case of autosomal dominant osteopetrosis type II with a novel TCIRG1 gene mutation. (23412864)
2013
8
Identification of two novel CLCN7 gene mutations in three Chinese families with autosomal dominant osteopetrosis typeA II. (23953223)
2013
9
Surgical treatment of an osteopetrotic patient with postoperative fractures: lessons from siblings with osteopetrosis. (23774327)
2013
10
Infantile osteomyelitis secondary to malignant osteopetrosis. (23449725)
2012
11
Denosumab for post-transplantation hypercalcemia in osteopetrosis. (23113501)
2012
12
Meox2Cre-mediated disruption of CSF-1 leads to osteopetrosis and osteocyte defects. (21958845)
2012
13
Osteopetrosis manifesting as recurrent bilateral facial palsy in childhood: a case report. (21106291)
2011
14
Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations. (19953639)
2010
15
Complications of anesthesia for children with malignant infantile osteopetrosis before and after hematopoietic stem cell transplantation. (20964772)
2010
16
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
17
A deletion mutation in bovine SLC4A2 is associated with osteopetrosis in Red Angus cattle. (20507629)
2010
18
Low-dose busulphan conditioning and neonatal stem cell transplantation preserves vision and restores hematopoiesis in severe murine osteopetrosis. (19100677)
2009
19
Optic canal diameter in infantile osteopetrosis. (19343974)
2009
20
Visual vignette. Malignant infantile osteopetrosis. (18463053)
2008
21
Osteopetrosis: "sandwich vertebrae". (18438475)
2008
22
Successful unrelated cord blood transplantation in a girl with malignant infantile osteopetrosis. (18710648)
2008
23
Airway evaluation and management in 7 children with malignant infantile osteopetrosis before hematopoietic stem cell transplantation. (18376286)
2008
24
A case of osteopetrosis with acute optic neuropathy. (18369707)
2008
25
Genetics, pathogenesis and complications of osteopetrosis. (17936098)
2008
26
Clinical profile of osteopetrosis in children in Karachi. (17374301)
2007
27
Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL. (17632511)
2007
28
Radiography of successful bone marrow transplantation for osteopetrosis. (16799785)
2007
29
Quantitative bone mineral density assessment in malignant infantile osteopetrosis. (16421907)
2007
30
A middle-aged man with monoclonal gammopathy and osteopetrosis. (17691563)
2007
31
Autosomal dominant osteopetrosis: clinical severity and natural history of 94 subjects with a chloride channel 7 gene mutation. (17164308)
2007
32
Osteopetrosis complicated by osteomyelitis of the mandible: a case report including characterization of the osteopetrotic bone. (17011167)
2007
33
Neonatal hematopoietic stem cell transplantation cures oc/oc mice from osteopetrosis. (16459192)
2006
34
Disease status in autosomal dominant osteopetrosis type 2 is determined by osteoclastic properties. (16813529)
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

About this section

Expression for genes affiliated with Osteopetrosis

About this section
Search GEO for disease gene expression data for Osteopetrosis.

Pathways for genes affiliated with Osteopetrosis

About this section

Pathways related to Osteopetrosis according to GeneCards Suite gene sharing:

(show all 13)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.4TNFSF11, TNFRSF11A
29.4TNFSF11, TNFRSF11A
3
Show member pathways
RANKL/RANK Signaling Pathway36
Apoptosis and survival APRIL and BAFF signaling59
9.4TNFSF11, TNFRSF11A
4
Show member pathways
Apoptosis and survival Anti apoptotic TNFs NF kB IAP pathway59
9.4TNFRSF11A, TNFSF11
59.4TNFRSF11A, TNFSF11
69.1ATP6V0E2, ATP6V0A2, TCIRG1
7
Show member pathways
Synaptic Vesicle Pathway36
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

About this section

Compounds related to Osteopetrosis according to GeneCards Suite gene sharing:

(show all 15)
idCompoundScoreTop Affiliating Genes
1concanamycin a44 6010.9ATP6V0A2, ATP6V0E2
2bafilomycin a144 60 1111.8ATP6V0E2, ATP6V0A2
3disulfiram44 50 60 1112.8ATP6V0A2, ATP6V0E2
4denosumab44 1110.7TNFSF11, TNFRSF11A
5polyethylene449.7TNFSF11, TNFRSF11A
6laccer449.7TNFRSF11A, TNFSF11
7bicarbonate449.6CA2, TNFSF11
8raloxifene44 50 28 1112.6TNFSF11, TNFRSF11A
9hydroxyapatite449.3TNFSF11, TNFRSF11A
10Phosphate249.3TCIRG1, ATP6V0A2, ATP6V0E2
11celecoxib44 60 28 50 24 1114.3CA2, TNFSF11
12calcitriol44 60 24 1112.2CA2, TNFSF11, TNFRSF11A
13hydrogen44 2410.2CA2, TNFSF11, ATP6V0E2
14pge2449.0TNFRSF11A, TNFSF11, CA2
15Water248.9ATP6V0E2, ATP6V0A2, TCIRG1, CA2

GO Terms for genes affiliated with Osteopetrosis

About this section

Cellular components related to Osteopetrosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1vacuolar proton-transporting V-type ATPase, V0 domainGO:00002209.3TCIRG1, ATP6V0A2
2endosome membraneGO:00100089.1TCIRG1, ATP6V0A2, ATP6V0E2
3phagocytic vesicle membraneGO:00306709.0ATP6V0E2, ATP6V0A2, TCIRG1
4lysosomal membraneGO:00057658.9TCIRG1, CLCN7, OSTM1, ATP6V0A2

Biological processes related to Osteopetrosis according to GeneCards Suite gene sharing:

(show all 19)
idNameGO IDScoreTop Affiliating Genes
1response to pHGO:00092689.8CA2, CLCN7
2positive regulation of bone resorptionGO:00457809.8CA2, TNFSF11
3positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signalingGO:00718489.7TNFRSF11A, TNFSF11
4TNFSF11-mediated signaling pathwayGO:00718479.7TNFRSF11A, TNFSF11
5positive regulation of fever generation by positive regulation of prostaglandin secretionGO:00718129.7TNFRSF11A, TNFSF11
6positive regulation of osteoclast differentiationGO:00456729.6TNFSF11, CA2
7mammary gland alveolus developmentGO:00607499.6TNFSF11, TNFRSF11A
8monocyte chemotaxisGO:00025489.5TNFSF11, TNFRSF11A
9positive regulation of sequence-specific DNA binding transcription factor activityGO:00510919.4TNFSF11, TNFRSF11A
10ATP hydrolysis coupled proton transportGO:00159919.4ATP6V0E2, ATP6V0A2, TCIRG1
11osteoclast differentiationGO:00303169.4OSTM1, TNFSF11, TNFRSF11A
12transferrin transportGO:00335729.4TCIRG1, ATP6V0A2, ATP6V0E2
13interaction with hostGO:00517019.4ATP6V0E2, ATP6V0A2, TCIRG1
14phagosome maturationGO:00903829.4ATP6V0E2, ATP6V0A2, TCIRG1
15tumor necrosis factor-mediated signaling pathwayGO:00332099.3TNFSF11, TNFRSF11A
16cellular iron ion homeostasisGO:00068799.3ATP6V0E2, ATP6V0A2, TCIRG1
17insulin receptor signaling pathwayGO:00082869.3ATP6V0E2, ATP6V0A2, TCIRG1
18ossificationGO:00015039.1TNFSF11, TNFRSF11A
19transmembrane transportGO:00550858.7TCIRG1, CLCN7, OSTM1, ATP6V0A2, ATP6V0E2

Molecular functions related to Osteopetrosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1hydrogen ion transmembrane transporter activityGO:00150789.1TCIRG1, ATP6V0A2, ATP6V0E2

Sources for Osteopetrosis

About this section
2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet