MCID: OST001
MIFTS: 70

Osteopetrosis

Categories: Rare diseases, Fetal diseases, Bone diseases, Eye diseases, Genetic diseases, Blood diseases, Nephrological diseases, Neuronal diseases

Aliases & Classifications for Osteopetrosis

Summaries for Osteopetrosis

NIH Rare Diseases : 49 Osteopetrosis refers to a group of rare, inherited skeletal disorders characterized by increased bone density and abnormal bone growth. Symptoms and severity can vary greatly, ranging from neonatal onset with life-threatening complications (such as bone marrow failure) to the incidental finding of osteopetrosis on X-ray. Depending on severity and age of onset, features may include fractures, short stature, compressive neuropathies (pressure on the nerves), hypocalcemia with attendant tetanic seizures, and life-threatening pancytopenia. In rare cases, there may be neurological impairment or involvement of other body systems. Osteopetrosis may be caused by mutations in at least 10 genes. Inheritance can be autosomal recessive, autosomal dominant, or X-linked recessive with the most severe forms being autosomal recessive. Management depends on the specific symptoms and severity and may include vitamin D supplements, various medications, and/or surgery. Adult osteopetrosis requires no treatment by itself, but complications may require intervention. Last updated: 7/20/2016

MalaCards based summary : Osteopetrosis, also known as albers-schonberg disease, is related to osteopetrosis, autosomal dominant 2 and osteopetrosis, autosomal recessive 2, and has symptoms including macrocephaly, mandibular prognathia and hearing impairment. An important gene associated with Osteopetrosis is OSTM1 (Osteopetrosis Associated Transmembrane Protein 1), and among its related pathways/superpathways are Osteoclast differentiation and Rheumatoid arthritis. The drugs Anti-Infective Agents and Antiviral Agents have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and t cells, and related phenotypes are Synthetic lethal with imatinib mesylate and growth/size/body region

Disease Ontology : 12 An osteosclerosis that has material basis in lack of bone resorption which results_in abnormally hard and brittle bones.

Genetics Home Reference : 24 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 : 72 Osteopetrosis, literally \"stone bone\", also known as marble bone disease, Albers-Schönberg disease is... more...

Related Diseases for Osteopetrosis

Diseases in the Osteopetrosis family:

Osteopetrosis, Autosomal Dominant 2 Osteopetrosis, Autosomal Recessive 1
Osteopetrosis, Autosomal Recessive 2 Osteopetrosis, Autosomal Recessive 5
Osteopetrosis, Autosomal Recessive 3 Osteopetrosis, Autosomal Dominant 1
Osteopetrosis, Autosomal Recessive 4 Osteopetrosis, Autosomal Recessive 6
Osteopetrosis, Autosomal Recessive 7 Osteopetrosis, Autosomal Recessive 8
Autosomal Recessive Malignant Osteopetrosis

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

(show top 50) (show all 173)
# Related Disease Score Top Affiliating Genes
1 osteopetrosis, autosomal dominant 2 34.5 CLCN7 TNFSF11
2 osteopetrosis, autosomal recessive 2 34.3 CLCN7 TNFSF11
3 osteopetrosis, autosomal recessive 6 34.2 CLCN7 PLEKHM1 TCIRG1
4 autosomal recessive malignant osteopetrosis 33.3 CLCN7 SNX10 TCIRG1 TNFSF11
5 pycnodysostosis 32.0 CLCN7 CTSK MITF
6 cohen-gibson syndrome 30.2 OSTM1 TNFRSF11A TNFSF11
7 paget's disease of bone 29.2 CSF1 TNFRSF11A TNFSF11
8 endosteal hyperostosis, autosomal dominant 28.7 CLCN7 CSF1 CTSK LRP5 OSTM1 PLEKHM1
9 osteoporosis 28.3 CA2 CSF1 CTSK LRP5 TNFRSF11A TNFSF11
10 osteopetrosis, autosomal recessive 7 12.6
11 osteopetrosis, autosomal recessive 3 12.6
12 osteopetrosis, autosomal recessive 1 12.5
13 osteopetrosis, autosomal dominant 1 12.5
14 osteopetrosis, autosomal recessive 5 12.4
15 osteopetrosis, autosomal recessive 4 12.4
16 ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema 12.3
17 osteopetrosis, autosomal recessive 8 12.2
18 coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness 12.2
19 infantile osteopetrosis with neuroaxonal dysplasia 11.9
20 clcn7-related osteopetrosis 11.9
21 osteopetrosis and infantile neuroaxonal dystrophy 11.8
22 raine syndrome 11.2
23 dysosteosclerosis 11.2
24 immunodeficiency 33 10.8
25 polyarticular onset juvenile idiopathic arthritis 10.4 TNFRSF11A TNFSF11
26 breast leiomyosarcoma 10.4 TNFRSF11A TNFSF11
27 hemophilic arthropathy 10.4 TNFRSF11A TNFSF11
28 osteomyelitis 10.4
29 paget disease of bone 5, juvenile-onset 10.3 TNFRSF11A TNFSF11
30 familial expansile osteolysis 10.3 TNFRSF11A TNFSF11
31 aneurysmal bone cysts 10.3 TNFRSF11A TNFSF11
32 periapical periodontitis 10.2 TNFRSF11A TNFSF11
33 blood group, i system 10.2
34 renal tubular acidosis 10.2
35 cerebritis 10.1
36 hematopoietic stem cell transplantation 10.1
37 multicentric reticulohistiocytosis 10.1 CSF1 TNFSF11
38 mandibular cancer 10.1 CSF1 TNFSF11
39 multicentric carpotarsal osteolysis syndrome 10.0 CTSK TNFRSF11A TNFSF11
40 epithelioid cell melanoma 10.0 CTSK MITF
41 tooth resorption 10.0 CTSK TNFRSF11A TNFSF11
42 root resorption 10.0 CTSK TNFRSF11A TNFSF11
43 hydrocephalus 10.0
44 rickets 10.0
45 microphthalmia 10.0
46 jaw cancer 9.9 CSF1 TNFSF11
47 adamantinoma of long bones 9.9 CSF1 TNFSF11
48 aging 9.9
49 leukemia 9.9
50 systemic mastocytosis 9.9

Graphical network of the top 20 diseases related to Osteopetrosis:



Diseases related to Osteopetrosis

Symptoms & Phenotypes for Osteopetrosis

Human phenotypes related to Osteopetrosis:

31 (show all 40)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 31 hallmark (90%) HP:0000256
2 mandibular prognathia 31 occasional (7.5%) HP:0000303
3 hearing impairment 31 hallmark (90%) HP:0000365
4 abnormality of vision 31 hallmark (90%) HP:0000504
5 abnormal chorioretinal morphology 31 occasional (7.5%) HP:0000532
6 nystagmus 31 occasional (7.5%) HP:0000639
7 carious teeth 31 occasional (7.5%) HP:0000670
8 abnormality of the ribs 31 hallmark (90%) HP:0000772
9 petechiae 31 hallmark (90%) HP:0000967
10 bruising susceptibility 31 frequent (33%) HP:0000978
11 intellectual disability 31 occasional (7.5%) HP:0001249
12 craniosynostosis 31 hallmark (90%) HP:0001363
13 growth delay 31 hallmark (90%) HP:0001510
14 abnormal pulmonary valve morphology 31 occasional (7.5%) HP:0001641
15 splenomegaly 31 occasional (7.5%) HP:0001744
16 thrombocytopenia 31 occasional (7.5%) HP:0001873
17 fever 31 hallmark (90%) HP:0001945
18 renal tubular acidosis 31 occasional (7.5%) HP:0001947
19 leukocytosis 31 frequent (33%) HP:0001974
20 hypophosphatemia 31 hallmark (90%) HP:0002148
21 bone pain 31 hallmark (90%) HP:0002653
22 lymphadenopathy 31 hallmark (90%) HP:0002716
23 immunodeficiency 31 frequent (33%) HP:0002721
24 osteomyelitis 31 hallmark (90%) HP:0002754
25 recurrent fractures 31 hallmark (90%) HP:0002757
26 osteoarthritis 31 occasional (7.5%) HP:0002758
27 genu valgum 31 occasional (7.5%) HP:0002857
28 hypocalcemia 31 hallmark (90%) HP:0002901
29 abnormal cortical bone morphology 31 hallmark (90%) HP:0003103
30 reduced bone mineral density 31 hallmark (90%) HP:0004349
31 sclerotic vertebral endplates 31 hallmark (90%) HP:0004576
32 sandwich appearance of vertebral bodies 31 hallmark (90%) HP:0004618
33 bone marrow hypocellularity 31 occasional (7.5%) HP:0005528
34 persistence of primary teeth 31 frequent (33%) HP:0006335
35 cranial nerve paralysis 31 hallmark (90%) HP:0006824
36 abnormal pelvis bone ossification 31 hallmark (90%) HP:0009106
37 peripheral neuropathy 31 hallmark (90%) HP:0009830
38 sleep apnea 31 occasional (7.5%) HP:0010535
39 osteopetrosis 31 hallmark (90%) HP:0011002
40 abnormality of vertebral epiphysis morphology 31 hallmark (90%) HP:0100734

GenomeRNAi Phenotypes related to Osteopetrosis according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with imatinib mesylate GR00181-A 8.8 CA2 PLEKHM1 SNX10

MGI Mouse Phenotypes related to Osteopetrosis:

43 (show all 18)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.38 SRC OSTM1 TCIRG1 SNX10 TNFRSF11A TNFSF11
2 hematopoietic system MP:0005397 10.37 TNFRSF11A SRC PLEKHM1 TCIRG1 SNX10 TNFSF11
3 immune system MP:0005387 10.37 PLEKHM1 TCIRG1 SNX10 TNFRSF11A SRC TNFSF11
4 craniofacial MP:0005382 10.34 TCIRG1 SNX10 TNFRSF11A SRC TNFSF11 CTSK
5 endocrine/exocrine gland MP:0005379 10.33 TNFRSF11A SRC TCIRG1 SNX10 TNFSF11 CSF1
6 behavior/neurological MP:0005386 10.32 SRC OSTM1 TCIRG1 TNFRSF11A TNFSF11 CSF1
7 cellular MP:0005384 10.31 SRC PLEKHM1 TCIRG1 TNFRSF11A CSF1 CLCN7
8 homeostasis/metabolism MP:0005376 10.29 OSTM1 TCIRG1 SNX10 TNFRSF11A TNFSF11 CA2
9 mortality/aging MP:0010768 10.25 SRC OSTM1 TCIRG1 SNX10 TNFRSF11A TNFSF11
10 limbs/digits/tail MP:0005371 10.2 SRC PLEKHM1 TCIRG1 TNFRSF11A TNFSF11 CTSK
11 integument MP:0010771 10.08 OSTM1 SRC TNFRSF11A TNFSF11 CSF1 CLCN7
12 nervous system MP:0003631 10.06 SRC PLEKHM1 CLCN7 CA2 CSF1 CSK
13 normal MP:0002873 9.91 PLEKHM1 TCIRG1 TNFSF11 CSK LRP5 IKBKG
14 pigmentation MP:0001186 9.8 SRC OSTM1 CLCN7 LRP5 IKBKG MITF
15 reproductive system MP:0005389 9.8 SRC TNFRSF11A TNFSF11 CA2 CSF1 IKBKG
16 skeleton MP:0005390 9.77 TNFRSF11A SRC PLEKHM1 TCIRG1 SNX10 TNFSF11
17 respiratory system MP:0005388 9.76 SRC TNFRSF11A TNFSF11 CSF1 CA2 CLCN7
18 vision/eye MP:0005391 9.23 OSTM1 SRC TNFSF11 CSF1 CSK CLCN7

Drugs & Therapeutics for Osteopetrosis

Drugs for Osteopetrosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 56)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Anti-Infective Agents Phase 4,Phase 2,Phase 3
2 Antiviral Agents Phase 4,Phase 2,Phase 3
3 Interferon-gamma Phase 4,Phase 3,Phase 2
4 interferons Phase 4,Phase 3,Phase 2
5
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
6
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
7
Fludarabine Approved Phase 2, Phase 3 21679-14-1, 75607-67-9 30751
8
Methotrexate Approved Phase 2, Phase 3 1959-05-2, 59-05-2 126941
9
Miconazole Approved, Investigational, Vet_approved Phase 2, Phase 3 22916-47-8 4189
10
alemtuzumab Approved, Investigational Phase 2, Phase 3 216503-57-0
11
Vidarabine Approved, Investigational Phase 2, Phase 3 24356-66-9 21704 32326
12
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 59-30-3 6037
13
leucovorin Approved, Nutraceutical Phase 2, Phase 3 58-05-9 143 6006
14
Calcitriol Approved, Nutraceutical Phase 3 32222-06-3 5280453 134070
15 Alkylating Agents Phase 2, Phase 3
16 Antifungal Agents Phase 2, Phase 3
17 Antilymphocyte Serum Phase 2, Phase 3
18 Antimetabolites Phase 2, Phase 3
19 Antimetabolites, Antineoplastic Phase 2, Phase 3
20 Antirheumatic Agents Phase 2, Phase 3
21 Calcineurin Inhibitors Phase 2, Phase 3
22 Cyclosporins Phase 2, Phase 3
23 Dermatologic Agents Phase 2, Phase 3
24 Folic Acid Antagonists Phase 2, Phase 3
25 Immunosuppressive Agents Phase 2, Phase 3
26 Nucleic Acid Synthesis Inhibitors Phase 2, Phase 3
27 Vitamin B Complex Phase 2, Phase 3
28 Bone Density Conservation Agents Phase 3
29 Calcium, Dietary Phase 3,Phase 1
30 Micronutrients Phase 3
31 Trace Elements Phase 3
32 Vasoconstrictor Agents Phase 3
33 Vitamins Phase 3,Phase 2
34 Folate Nutraceutical Phase 2, Phase 3
35 Vitamin B9 Nutraceutical Phase 2, Phase 3
36
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
37
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
38
rituximab Approved Phase 2 174722-31-7 10201696
39 Thiotepa Approved, Investigational Phase 2 52-24-4 5453
40
Adenosine Approved, Investigational Phase 2 58-61-7 60961
41
Hydroxyurea Approved Phase 2 127-07-1 3657
42
Melphalan Approved Phase 2 148-82-3 460612 4053
43
Clofarabine Approved, Investigational Phase 2 123318-82-1 119182
44
Lenograstim Approved, Investigational Phase 2 135968-09-1
45 Tocopherol Approved, Investigational, Nutraceutical Phase 2
46
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
47 N-monoacetylcystine Phase 2
48 Thioctic Acid Phase 2
49 Tocopherols Phase 2
50 Tocotrienols Phase 2

Interventional clinical trials:

(show all 17)

# Name Status NCT ID Phase Drugs
1 Post Marketing Surveillance Study of Actimmune in Patients With Severe, Malignant Osteopetrosis Completed NCT00043329 Phase 4 Actimmune Registry
2 Hematopoietic Stem Cell Transplantation for Malignant Infantile Osteopetrosis Unknown status NCT01087398 Phase 2, Phase 3 Busulfan, Cyclophosphamide, Thymoglobulin, Fludarabine (Conditioning regimen);Cyclosporin, Methotrexate (GVHD prophylaxis)
3 Allogeneic Transplantation For Severe Osteopetrosis Unknown status NCT00775931 Phase 2, Phase 3 Campath-1H;Cyclophosphamide;Busulfan;Fludarabine monophosphate
4 Risk-Adapted Allogeneic Stem Cell Transplantation For Mixed Donor Chimerism In Patients With Non-Malignant Diseases Unknown status NCT01019876 Phase 2, Phase 3 Fludarabine;Cyclophosphamide;Cyclophosphamide 40;Cyclophosphamide 30
5 Phase III Randomized Study of Interferon Gamma in Children With Severe, Congenital Osteopetrosis Completed NCT00004402 Phase 3 calcitriol;interferon gamma
6 Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells Completed NCT00730314 Phase 1, Phase 2
7 ACTIMMUNE in Intermediate Osteopetrosis Recruiting NCT02666768 Phase 2 Interferon gamma-1b
8 MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis Recruiting NCT02171104 Phase 2 IMD Preparative Regimen;Osteopetrosis Only Preparative Regimen;Osteopetrosis Haploidentical Only Preparative Regimen;cALD SR-A (Standard-Risk, Regimen A);cALD SR-B (Standard-Risk, Regimen B);cALD HR-D (High-Risk, Regimen C);cALD HR-D (High-Risk, Regimen D)
9 Use of ACTIMMUNE in Patients With ADO2 Recruiting NCT02584608 Phase 2 ACTIMMUNE
10 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2 Hydroxyurea;Alemtuzumab;Fludarabine;Melphalan;Thiotepa
11 Reduced Intensity AlloTransplant For Osteopetrosis Terminated NCT00638820 Phase 2 Campath, Busulfan, Clofarabine
12 T-cell Depleted Alternative Donor Transplantation Terminated NCT00968864 Phase 2
13 rhPTH Therapy for Low Turnover Bone Fragility Terminated NCT00145886 Phase 1 rhPTH
14 Clinical Assessment of Patients With High Bone Mass Due to Mutation in Lrp5 Completed NCT01199094
15 Longitudinal Study of Neurodegenerative Disorders Recruiting NCT03333200
16 Expanded Access Protocol (EAP) Using the CliniMACS® Device for Pediatric Haplocompatible Donor Stem Cell Transplant Available NCT01200017
17 Stem Cell Transplantation for Children Affected With Osteopetrosis Terminated NCT00145587 Systemic chemotherapy and antibodies

Search NIH Clinical Center for Osteopetrosis

Inferred drug relations via UMLS 69 / NDF-RT 47 :


Cell-based therapeutics:


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

Cochrane evidence based reviews: osteopetrosis

Genetic Tests for Osteopetrosis

Genetic tests related to Osteopetrosis:

# Genetic test Affiliating Genes
1 Osteopetrosis 28

Anatomical Context for Osteopetrosis

MalaCards organs/tissues related to Osteopetrosis:

38
Bone, Bone Marrow, T Cells, Brain, Lung, Thyroid, Monocytes

Publications for Osteopetrosis

Articles related to Osteopetrosis:

(show top 50) (show all 668)
# Title Authors Year
1
Endoscopic third ventriculostomy for hydrocephalus in osteopetrosis: a case report and review of the literature. ( 29327079 )
2018
2
Effects of hypothalamic leptin gene therapy on osteopetrosis in leptin-deficient mice. ( 29191939 )
2018
3
Clinical Significance of DXA and HR-pQCT in Autosomal Dominant Osteopetrosis (ADO II). ( 29018903 )
2018
4
Anterior cervical arthrodesis for chronic hangman's fracture in a patient with osteopetrosis: a case report. ( 29429065 )
2018
5
Genetics of Osteopetrosis. ( 29335834 )
2018
6
Cervical spine fractures in osteopetrosis: a case report and review of the literature. ( 29353820 )
2018
7
Complex Heterozygous Mutation in the T-cell Immune Regulator 1 Gene Associated with Severe Ocular Characteristics of Osteopetrosis in an Infant. ( 29363653 )
2018
8
A Rare Case of Osteopetrosis with Unusual Feature as Microcephaly. ( 28969233 )
2017
9
Novel mutations of CLCN7 cause autosomal dominant osteopetrosis type II (ADOII) and intermediate autosomal recessive osteopetrosis (ARO) in seven Chinese families. ( 28975865 )
2017
10
Novel CLCN7 compound heterozygous mutations in intermediate autosomal recessive osteopetrosis. ( 28819563 )
2017
11
Targeting NSG Mice Engrafting Cells with a Clinically Applicable Lentiviral Vector Corrects Osteoclasts in Infantile Malignant Osteopetrosis. ( 28726516 )
2017
12
A Novel Mutation in<i>SNX10</i>Gene Causes Malignant Infantile Osteopetrosis. ( 29090071 )
2017
13
Generation of induced pluripotent stem cells (ARO-iPSC1-11) from a patient with autosomal recessive osteopetrosis harboring the c.212+1G>T mutation in SNX10 gene. ( 29034896 )
2017
14
Decompressive Cranioplasty in a Patient with Osteopetrosis. ( 28867326 )
2017
15
Human-Aided Movement of Viral Disease and the Archaeology of Avian Osteopetrosis. ( 29104410 )
2017
16
[Analysis of TCIRG1 gene mutation in a Chinese family affected with infantile malignant osteopetrosis]. ( 28604959 )
2017
17
Case report: A 10 years follow-up of periprosthetic femoral fracture after total hip arthroplasty in osteopetrosis. ( 28550971 )
2017
18
Malignant Infantile Osteopetrosis. ( 28718264 )
2017
19
Periodontal profile and radiographic characterization of the jaws in a patient with autosomal dominant osteopetrosis. ( 28469925 )
2017
20
Successful open reduction and internal fixation for displaced femoral fracture in a patient with osteopetrosis: Case report and lessons learned. ( 28816960 )
2017
21
Infantile Osteopetrosis in a Kazakh Boy. ( 28457121 )
2017
22
Osteopetrosis in twin infants mimicking leukemia. ( 29150114 )
2017
23
Rugger-jersey spine in osteopetrosis. ( 28433978 )
2017
24
Anesthesia Management of a Child with Osteopetrosis. ( 28928594 )
2017
25
Case update on cranial osteopetrosis: which is the role of the neurosurgeon? ( 28762040 )
2017
26
Guided growth for valgus deformity correction of knees in a girl with osteopetrosis: a case report. ( 28593359 )
2017
27
Diagnosis and Management of Osteopetrosis: Consensus Guidelines From the Osteopetrosis Working Group. ( 28655174 )
2017
28
Phenotypic severity of autosomal dominant osteopetrosis type II (ADO2) mice on different genetic backgrounds recapitulates the features of human disease. ( 27746321 )
2017
29
SNX10 gene mutation leading to osteopetrosis with dysfunctional osteoclasts. ( 28592808 )
2017
30
Osteopetrosis. ( 28423297 )
2017
31
Renal Tubular Acidosis, Osteopetrosis, and Cerebral Calcification: A Rare Syndrome Caused by Carbonic Anhydrase II Deficiency. ( 28761241 )
2017
32
Novel mutations of TCIRG1 cause a malignant and mild phenotype of autosomal recessive osteopetrosis (ARO) in four Chinese families. ( 28816234 )
2017
33
Hematopoietic cell transplantation for a child with OSTM1 osteopetrosis. ( 29296943 )
2017
34
Radiological findings in autosomal recessive infantile osteopetrosis. ( 28838823 )
2017
35
Technical particularities of joint preserving hip surgery in osteopetrosis. ( 29250335 )
2017
36
Identification and in silico characterization of a novel p.P208PfsX1 mutation in V-ATPase a3 subunit associated with autosomal recessive osteopetrosis in a Pakistani family. ( 29237407 )
2017
37
Monocyte-Specific Knockout of C/ebpI+ Results in Osteopetrosis Phenotype, Blocks Bone Loss in Ovariectomized Mice, and Reveals an Important Function of C/ebpI+ in Osteoclast Differentiation and Function. ( 29149533 )
2017
38
Use of an Industrial Tungsten Carbide Drill in the Treatment of a Complex Fracture in a Patient with Severe Osteopetrosis: A Case Report. ( 28435578 )
2017
39
Transplantation of Haploidentical TcRaA9-Depleted Hematopoietic Cells Allows for Optimal Timing and Sustained Correction of the Metabolic Defect in Children With Infantile Osteopetrosis. ( 27447118 )
2016
40
A rare case of osteopetrosis mimicking osteosarcoma: 18F-FDG PET/CT findings in an unexpected diagnosis. ( 26875431 )
2016
41
Autosomal dominant osteopetrosis associated with renal tubular acidosis is due to a CLCN7 mutation. ( 27540713 )
2016
42
Extending the Spectrum of Radiological Findings in Patients With Severe Osteopetrosis and Different Genetic Backgrounds. ( 26970326 )
2016
43
Characterization of a Relatively Malignant Form of Osteopetrosis Caused by a Novel Mutation in the PLEKHM1 Gene. ( 27291868 )
2016
44
Diagnosis of osteopetrosis in bilateral congenital aural atresia: Turning point in treatment strategy. ( 27170934 )
2016
45
Canonical Notch activation in osteocytes causes osteopetrosis. ( 26578715 )
2016
46
Synonymous Mutations Add a Layer of Complexity in the Diagnosis of Human Osteopetrosis. ( 27468155 )
2016
47
Debridement in chronic osteomyelitis with benign osteopetrosis: A case report. ( 27882078 )
2016
48
Homozygous Deletion of RAG1, RAG2 and 5' region TRAF6 Causes Severe Immune Suppression and Atypical Osteopetrosis. ( 27808398 )
2016
49
Hypocalcemia presenting with multifocal seizure in a baby with osteopetrosis. ( 27062635 )
2016
50
UNIQUE PRESENTATION OF OSTEOPETROSIS. ( 27323593 )
2016

Variations for Osteopetrosis

Expression for Osteopetrosis

Search GEO for disease gene expression data for Osteopetrosis.

Pathways for Osteopetrosis

Pathways related to Osteopetrosis according to KEGG:

36
# Name Kegg Source Accession
1 Osteoclast differentiation hsa04380
2 Rheumatoid arthritis hsa05323

Pathways related to Osteopetrosis according to GeneCards Suite gene sharing:

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.1 CSF1 CSK IKBKG SRC TNFRSF11A TNFSF11
2
Show member pathways
12.41 IKBKG SRC TNFRSF11A TNFSF11
3
Show member pathways
12.37 IKBKG SRC TNFRSF11A TNFSF11
4
Show member pathways
12.23 IKBKG SRC TNFRSF11A TNFSF11
5
Show member pathways
12.21 CA2 CSK IKBKG SRC TCIRG1
6
Show member pathways
11.97 IKBKG MITF SRC TNFRSF11A TNFSF11
7
Show member pathways
11.83 CTSK IKBKG MITF SRC TNFRSF11A TNFSF11
8 11.65 IKBKG TNFRSF11A TNFSF11
9 11.51 CSF1 CTSK TCIRG1 TNFRSF11A TNFSF11
10
Show member pathways
11.5 IKBKG TNFRSF11A TNFSF11
11 11.31 CSF1 CSK SRC
12 11.23 CA2 TNFRSF11A TNFSF11
13 11.21 CSF1 CTSK IKBKG MITF TNFRSF11A TNFSF11
14 10.64 CTSK TNFRSF11A TNFSF11

GO Terms for Osteopetrosis

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

# Name GO ID Score Top Affiliating Genes
1 lysosome GO:0005764 9.26 CLCN7 CTSK PLEKHM1 SRC
2 lysosomal membrane GO:0005765 8.92 CLCN7 OSTM1 PLEKHM1 TCIRG1

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.76 IKBKG TNFRSF11A TNFSF11
2 positive regulation of DNA binding transcription factor activity GO:0051091 9.72 LRP5 TNFRSF11A TNFSF11
3 positive regulation of MAP kinase activity GO:0043406 9.65 CSK SRC TNFSF11
4 cellular response to peptide hormone stimulus GO:0071375 9.58 CSK SRC
5 mammary gland alveolus development GO:0060749 9.57 TNFRSF11A TNFSF11
6 regulation of osteoclast differentiation GO:0045670 9.56 MITF TNFSF11
7 bone remodeling GO:0046849 9.54 LRP5 MITF
8 response to pH GO:0009268 9.52 CA2 CLCN7
9 cellular response to fluid shear stress GO:0071498 9.51 CA2 SRC
10 bone resorption GO:0045453 9.5 CTSK SRC TNFSF11
11 positive regulation of intracellular signal transduction GO:1902533 9.49 SRC TNFSF11
12 TNFSF11-mediated signaling pathway GO:0071847 9.46 TNFRSF11A TNFSF11
13 osteoclast proliferation GO:0002158 9.43 CSF1 TNFSF11
14 positive regulation of osteoclast differentiation GO:0045672 9.43 CA2 CSF1 TNFSF11
15 positive regulation of fever generation by positive regulation of prostaglandin secretion GO:0071812 9.4 TNFRSF11A TNFSF11
16 positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling GO:0071848 9.37 TNFRSF11A TNFSF11
17 positive regulation of bone resorption GO:0045780 9.33 CA2 PLEKHM1 TNFSF11
18 branching involved in mammary gland duct morphogenesis GO:0060444 9.13 CSF1 LRP5 SRC
19 osteoclast differentiation GO:0030316 9.1 CSF1 MITF OSTM1 SNX10 TNFRSF11A TNFSF11

Sources for Osteopetrosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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