MCID: OST001
MIFTS: 63

Osteopetrosis

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

Aliases & Classifications for Osteopetrosis

Summaries for Osteopetrosis

NIH Rare Diseases : 50 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 pycnodysostosis and rheumatoid arthritis, and has symptoms including nystagmus, splenomegaly and thrombocytopenia. An important gene associated with Osteopetrosis is OSTM1 (Osteopetrosis Associated Transmembrane Protein 1), and among its related pathways/superpathways are Development Endothelin-1/EDNRA signaling and TRAF Pathway. 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

Genetics Home Reference : 25 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.

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

Wikipedia : 72 Osteopetrosis, literally \"stone bone\", also known as marble bone disease, is an extremely rare... more...

Related Diseases for Osteopetrosis

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 Recessive 4
Osteopetrosis, Autosomal Dominant 2 Osteopetrosis, Autosomal Recessive 6
Osteopetrosis, Autosomal Recessive 7 Clcn7-Related Osteopetrosis
Lrp5-Related Autosomal Dominant Osteopetrosis Ostm1-Related Autosomal Recessive Osteopetrosis
Plekhm1-Related Autosomal Recessive Osteopetrosis Snx10-Related Autosomal Recessive Osteopetrosis
Tcirg1-Related Autosomal Recessive Osteopetrosis Tnfsf11-Related Autosomal Recessive Osteopetrosis
Infantile Malignant Clcn7-Related Autosomal Recessive Osteopetrosis Intermediate Autosomal Osteopetrosis
Autosomal Recessive Malignant Osteopetrosis

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

(show top 50) (show all 150)
id Related Disease Score Top Affiliating Genes
1 pycnodysostosis 31.7 CLCN7 CTSK MITF
2 rheumatoid arthritis 27.6 CSF1 CTSK TNFRSF11A TNFSF11
3 osteopetrosis, autosomal recessive 7 12.4
4 osteopetrosis, autosomal dominant 2 12.3
5 osteopetrosis, autosomal recessive 3, with renal tubular acidosis 12.3
6 osteopetrosis, autosomal recessive 6 12.3
7 osteopetrosis, autosomal dominant 1 12.3
8 osteopetrosis, autosomal recessive 1 12.2
9 osteopetrosis, autosomal recessive 2 12.2
10 osteopetrosis, autosomal recessive 5 12.2
11 osteopetrosis, autosomal recessive 4 12.2
12 osteopetrosis, autosomal recessive 8 12.1
13 autosomal recessive malignant osteopetrosis 11.9
14 clcn7-related osteopetrosis 11.8
15 infantile osteopetrosis with neuroaxonal dysplasia 11.8
16 plekhm1-related autosomal recessive osteopetrosis 11.7
17 snx10-related autosomal recessive osteopetrosis 11.7
18 tnfrsf11a- related autosomal recessive osteopetrosis 11.7
19 ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency 11.7
20 lrp5-related autosomal dominant osteopetrosis 11.6
21 ostm1-related autosomal recessive osteopetrosis 11.6
22 tcirg1-related autosomal recessive osteopetrosis 11.6
23 tnfsf11-related autosomal recessive osteopetrosis 11.6
24 infantile malignant clcn7-related autosomal recessive osteopetrosis 11.6
25 intermediate autosomal osteopetrosis 11.6
26 osteopetrosis and infantile neuroaxonal dystrophy 11.6
27 commad syndrome 11.4
28 raine syndrome 11.1
29 dysosteosclerosis 11.1
30 immunodeficiency 33 10.7
31 obsessive-compulsive disorder 10.6 CLCN7 TNFSF11
32 familial mediterranean fever, ar 10.6 CLCN7 TNFSF11
33 polyembryoma 10.6 TNFRSF11A TNFSF11
34 larynx leiomyosarcoma 10.6 TNFRSF11A TNFSF11
35 neurodegeneration, childhood-onset, with brain atrophy 10.6 CLCN7 PLEKHM1
36 tibial hemimelia 10.5 TNFRSF11A TNFSF11
37 paget disease of bone 2, early-onset 10.5 TNFRSF11A TNFSF11
38 hennekam van der horst syndrome 10.5 TNFRSF11A TNFSF11
39 atrial fibrillation, familial, 8 10.4 TNFRSF11A TNFSF11
40 lower clivus meningioma 10.4 TNFRSF11A TNFSF11
41 spinocerebellar ataxia 4 10.4 OSTM1 TNFRSF11A TNFSF11
42 osteomyelitis 10.3
43 bone resorption disease 10.2 TNFRSF11A TNFSF11
44 renal tubular acidosis 10.1
45 cerebritis 10.1
46 limb transversal defect-cardiac anomaly syndrome 10.1 CLCN7 SNX10 TCIRG1 TNFSF11
47 hematopoietic stem cell transplantation 10.0
48 schnitzler syndrome 10.0 CTSK MITF
49 metaphyseal anadysplasia 2 10.0 CTSK TNFRSF11A TNFSF11
50 bronchus cancer 10.0 CTSK TNFRSF11A TNFSF11

Graphical network of the top 20 diseases related to Osteopetrosis:



Diseases related to Osteopetrosis

Symptoms & Phenotypes for Osteopetrosis

Human phenotypes related to Osteopetrosis:

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

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

26
id 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:

44 (show all 16)
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.32 CA2 CLCN7 CSF1 CTSK IKBKG LRP5
2 craniofacial MP:0005382 10.28 CLCN7 CSF1 CTSK LRP5 MITF OSTM1
3 hematopoietic system MP:0005397 10.27 CLCN7 CSF1 CTSK IKBKG LRP5 MITF
4 immune system MP:0005387 10.27 CTSK IKBKG LRP5 MITF OSTM1 SNX10
5 behavior/neurological MP:0005386 10.26 CLCN7 CSF1 IKBKG LRP5 MITF OSTM1
6 endocrine/exocrine gland MP:0005379 10.26 TNFRSF11A TNFSF11 CA2 CSF1 CTSK IKBKG
7 homeostasis/metabolism MP:0005376 10.26 CA2 CLCN7 CSF1 CTSK IKBKG LRP5
8 cellular MP:0005384 10.2 CLCN7 CSF1 CTSK IKBKG LRP5 MITF
9 mortality/aging MP:0010768 10.15 CA2 CLCN7 CSF1 IKBKG LRP5 MITF
10 limbs/digits/tail MP:0005371 10.14 TNFSF11 CLCN7 CSF1 CTSK LRP5 MITF
11 integument MP:0010771 10.03 IKBKG MITF OSTM1 SRC TNFRSF11A TNFSF11
12 pigmentation MP:0001186 9.8 IKBKG LRP5 MITF OSTM1 SRC CLCN7
13 reproductive system MP:0005389 9.8 CA2 CSF1 IKBKG MITF SRC TNFRSF11A
14 skeleton MP:0005390 9.77 CA2 CLCN7 CSF1 CTSK LRP5 MITF
15 respiratory system MP:0005388 9.63 CLCN7 CSF1 CTSK SRC TNFRSF11A TNFSF11
16 vision/eye MP:0005391 9.17 CLCN7 CSF1 LRP5 MITF OSTM1 SRC

Drugs & Therapeutics for Osteopetrosis

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

(show top 50) (show all 56)
id 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 Phase 2, Phase 3 24356-66-9 32326 21704
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 134070 5280453
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 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 4053 460612
43
Clofarabine Approved, Investigational Phase 2 123318-82-1 119182
44
Lenograstim Approved Phase 2 135968-09-1
45 Tocopherol Approved, 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 16)

id 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 Expanded Access Protocol (EAP) Using the CliniMACS® Device for Pediatric Haplocompatible Donor Stem Cell Transplant Available NCT01200017
16 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 48 :


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:

id Genetic test Affiliating Genes
1 Osteopetrosis 29

Anatomical Context for Osteopetrosis

MalaCards organs/tissues related to Osteopetrosis:

39
Bone, Bone Marrow, T Cells, Brain, Lung, Thyroid, Neutrophil

Publications for Osteopetrosis

Articles related to Osteopetrosis:

(show top 50) (show all 650)
id Title Authors Year
1
Successful open reduction and internal fixation for displaced femoral fracture in a patient with osteopetrosis: Case report and lessons learned. ( 28816960 )
2017
2
Novel CLCN7 compound heterozygous mutations in intermediate autosomal recessive osteopetrosis. ( 28819563 )
2017
3
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
4
Guided growth for valgus deformity correction of knees in a girl with osteopetrosis: a case report. ( 28593359 )
2017
5
Radiological findings in autosomal recessive infantile osteopetrosis. ( 28838823 )
2017
6
Decompressive Cranioplasty in a Patient with Osteopetrosis. ( 28867326 )
2017
7
Renal Tubular Acidosis, Osteopetrosis, and Cerebral Calcification: A Rare Syndrome Caused by Carbonic Anhydrase II Deficiency. ( 28761241 )
2017
8
Periodontal profile and radiographic characterization of the jaws in a patient with autosomal dominant osteopetrosis. ( 28469925 )
2017
9
Novel mutations of TCIRG1 cause a malignant and mild phenotype of autosomal recessive osteopetrosis (ARO) in four Chinese families. ( 28816234 )
2017
10
Targeting NSG Mice Engrafting Cells with a Clinically Applicable Lentiviral Vector Corrects Osteoclasts in Infantile Malignant Osteopetrosis. ( 28726516 )
2017
11
SNX10 gene mutation leading to osteopetrosis with dysfunctional osteoclasts. ( 28592808 )
2017
12
Osteopetrosis. ( 28423297 )
2017
13
Case report: A 10 years follow-up of periprosthetic femoral fracture after total hip arthroplasty in osteopetrosis. ( 28550971 )
2017
14
Malignant Infantile Osteopetrosis. ( 28718264 )
2017
15
Diagnosis and Management of Osteopetrosis: Consensus Guidelines From the Osteopetrosis Working Group. ( 28655174 )
2017
16
Infantile Osteopetrosis in a Kazakh Boy. ( 28457121 )
2017
17
Anesthesia Management of a Child with Osteopetrosis. ( 28928594 )
2017
18
Rugger-jersey spine in osteopetrosis. ( 28433978 )
2017
19
Phenotypic severity of autosomal dominant osteopetrosis type II (ADO2) mice on different genetic backgrounds recapitulates the features of human disease. ( 27746321 )
2017
20
Case update on cranial osteopetrosis: which is the role of the neurosurgeon? ( 28762040 )
2017
21
Haploidentical transplantation with post-transplant cyclophosphamide following reduced-intensity conditioning for osteopetrosis: outcomes in three children. ( 27376448 )
2016
22
Canonical Notch activation in osteocytes causes osteopetrosis. ( 26578715 )
2016
23
Long-Term Follow-Up of Bimaxillary Osteomyelitis Associated with Autosomal Dominant Osteopetrosis: A Case Report. ( 26929564 )
2016
24
Extending the Spectrum of Radiological Findings in Patients With Severe Osteopetrosis and Different Genetic Backgrounds. ( 26970326 )
2016
25
Clinical Characteristics and Treatment of Osteopetrosis Complicated by Osteomyelitis of the Mandible. ( 28005799 )
2016
26
Proximal femoral fracture surgery in a patient with osteopetrosis tarda: complications and treatment strategy. ( 27843357 )
2016
27
Outcomes after Unrelated Umbilical Cord Blood Transplantation for Children with Osteopetrosis. ( 27470286 )
2016
28
Dental care approach in patients with osteopetrosis. ( 27858309 )
2016
29
Osteopetrosis in a neonatal donkey. ( 27671079 )
2016
30
Characterization of a Relatively Malignant Form of Osteopetrosis Caused by a Novel Mutation in the PLEKHM1 Gene. ( 27291868 )
2016
31
Regulation and Function of Lentiviral Vector-Mediated TCIRG1 Expression in Osteoclasts from Patients with Infantile Malignant Osteopetrosis: Implications for Gene Therapy. ( 27541021 )
2016
32
Hypocalcemia presenting with multifocal seizure in a baby with osteopetrosis. ( 27062632 )
2016
33
Ultrastructural Analyses of Alveolar Bone in a Patient With Osteomyelitis Secondary to Osteopetrosis: A Review of the Literature. ( 27000409 )
2016
34
Atypical Association of Ethmoidal Encephalocele and Hydrocephalus in an Adult Patient with Autosomal-Dominant Osteopetrosis Type I (ADO-I): A Case Report. ( 26851742 )
2016
35
Disabling Osteopetrosis in an Young Lady. ( 28406001 )
2016
36
Osteopetrosis in two siblings: two case reports. ( 26825064 )
2016
37
Synonymous Mutations Add a Layer of Complexity in the Diagnosis of Human Osteopetrosis. ( 27468155 )
2016
38
Enhanced but hypofunctional osteoclastogenesis in an autosomal dominant osteopetrosis type II case carrying a c.1856C>T mutation in CLCN7. ( 27990310 )
2016
39
In this issue - October 2016: Horse transportation in Australia A^ Osteopetrosis in a neonatal donkey A^ Bovine ephemeral fever virus-infected downer cattle A^ Antimicrobial resistance in Escherichia coli in finisher pigs A^ Stabilisation of periarticular fractures using a notched head locking T-plate A^ Measuring blood coagulation in Bennett's wallabies A^ Vaccine against Salmonella Typhimurium in laying hens. ( 27671076 )
2016
40
Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness. ( 27889061 )
2016
41
Diagnosis of osteopetrosis in bilateral congenital aural atresia: Turning point in treatment strategy. ( 27170934 )
2016
42
Myeloid Deletion of Nemo Causes Osteopetrosis in Mice Owing to Upregulation of Transcriptional Repressors. ( 27435916 )
2016
43
A rare case of osteopetrosis mimicking osteosarcoma: 18F-FDG PET/CT findings in an unexpected diagnosis. ( 26875431 )
2016
44
Autosomal dominant osteopetrosis associated with renal tubular acidosis is due to a CLCN7 mutation. ( 27540713 )
2016
45
UNIQUE PRESENTATION OF OSTEOPETROSIS. ( 27323593 )
2016
46
Oral Rehabilitation of an Osteopetrosis Patient with Osteomyelitis. ( 27148461 )
2016
47
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
48
Homozygous Deletion of RAG1, RAG2 and 5' region TRAF6 Causes Severe Immune Suppression and Atypical Osteopetrosis. ( 27808398 )
2016
49
Debridement in chronic osteomyelitis with benign osteopetrosis: A case report. ( 27882078 )
2016
50
The Use of Whole Exome Sequencing for the Diagnosis of Autosomal Recessive Malignant Infantile Osteopetrosis. ( 27187610 )
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 GeneCards Suite gene sharing:

(show all 12)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.46 IKBKG SRC TNFRSF11A TNFSF11
2
Show member pathways
12.33 IKBKG SRC TNFRSF11A TNFSF11
3
Show member pathways
12.26 IKBKG LRP5 MITF SRC TNFSF11
4
Show member pathways
12.19 IKBKG SRC TNFRSF11A TNFSF11
5
Show member pathways
12.15 CA2 IKBKG SRC TCIRG1
6
Show member pathways
12.03 CTSK IKBKG MITF SRC TNFRSF11A TNFSF11
7 11.61 IKBKG TNFRSF11A TNFSF11
8
Show member pathways
11.41 IKBKG TNFRSF11A TNFSF11
9 11.31 CSF1 CTSK TCIRG1 TNFRSF11A TNFSF11
10 11.21 CSF1 CTSK IKBKG MITF TNFRSF11A TNFSF11
11 11.15 CA2 TNFRSF11A TNFSF11
12 10.64 CTSK TNFRSF11A TNFSF11

GO Terms for Osteopetrosis

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

id 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 16)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.72 IKBKG TNFRSF11A TNFSF11
2 positive regulation of sequence-specific DNA binding transcription factor activity GO:0051091 9.7 LRP5 TNFRSF11A TNFSF11
3 response to interleukin-1 GO:0070555 9.56 SRC TNFRSF11A
4 mammary gland alveolus development GO:0060749 9.54 TNFRSF11A TNFSF11
5 response to pH GO:0009268 9.51 CA2 CLCN7
6 bone resorption GO:0045453 9.5 CTSK SRC TNFSF11
7 cellular response to fluid shear stress GO:0071498 9.49 CA2 SRC
8 positive regulation of intracellular signal transduction GO:1902533 9.48 SRC TNFSF11
9 TNFSF11-mediated signaling pathway GO:0071847 9.46 TNFRSF11A TNFSF11
10 osteoclast proliferation GO:0002158 9.43 CSF1 TNFSF11
11 positive regulation of osteoclast differentiation GO:0045672 9.43 CA2 CSF1 TNFSF11
12 positive regulation of fever generation by positive regulation of prostaglandin secretion GO:0071812 9.4 TNFRSF11A TNFSF11
13 positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling GO:0071848 9.37 TNFRSF11A TNFSF11
14 positive regulation of bone resorption GO:0045780 9.16 CA2 TNFSF11
15 branching involved in mammary gland duct morphogenesis GO:0060444 9.13 CSF1 LRP5 SRC
16 osteoclast differentiation GO:0030316 9.02 CSF1 OSTM1 SNX10 TNFRSF11A TNFSF11

Sources for Osteopetrosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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