MCID: OST001
MIFTS: 63

Osteopetrosis malady

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

Aliases & Classifications for Osteopetrosis

Aliases & Descriptions for Osteopetrosis:

Name: Osteopetrosis 38 12 50 25 29 52 42 14 69
Albers-Schonberg Disease 12 50
Congenital Osteopetrosis 25 69
Marble Bone Disease 50 25
Osteopetroses 50 25
Albers-Schonberg Osteopetrosis 50
Albers-Schoenberg Disease 50
Osteosclerosis Fragilis 50
Marble Bones 50
Marble Bone 12

Classifications:



External Ids:

Disease Ontology 12 DOID:13533
ICD10 33 Q78.2
ICD9CM 35 756.52
MeSH 42 D010022
NCIt 47 C26840
UMLS 69 C0029454

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 osteopetrosis, autosomal recessive 7 and osteopetrosis, autosomal dominant 2, and has symptoms including fever, bone pain and macrocephaly. An important gene associated with Osteopetrosis is OSTM1 (Osteopetrosis Associated Transmembrane Protein 1), and among its related pathways/superpathways are Glioma 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 brain, 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 : 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.

Wikipedia : 71 Three definite clinical forms of the disease, infantile, intermediate, and adult onset are recognized... 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 142)
id Related Disease Score Top Affiliating Genes
1 osteopetrosis, autosomal recessive 7 33.8 TNFRSF11A TNFSF11
2 osteopetrosis, autosomal dominant 2 12.4
3 osteopetrosis, autosomal recessive 3, with renal tubular acidosis 12.3
4 osteopetrosis, autosomal dominant 1 12.3
5 osteopetrosis, autosomal recessive 6 12.3
6 osteopetrosis, autosomal recessive 1 12.3
7 osteopetrosis, autosomal recessive 2 12.2
8 osteopetrosis, autosomal recessive 4 12.2
9 osteopetrosis, autosomal recessive 5 12.2
10 osteopetrosis, autosomal recessive 8 12.1
11 coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness 12.1
12 autosomal recessive malignant osteopetrosis 12.0
13 clcn7-related osteopetrosis 11.8
14 infantile osteopetrosis with neuroaxonal dysplasia 11.8
15 plekhm1-related autosomal recessive osteopetrosis 11.8
16 ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency 11.7
17 tnfrsf11a- related autosomal recessive osteopetrosis 11.7
18 snx10-related autosomal recessive osteopetrosis 11.7
19 tnfsf11-related autosomal recessive osteopetrosis 11.6
20 infantile malignant clcn7-related autosomal recessive osteopetrosis 11.6
21 intermediate autosomal osteopetrosis 11.6
22 osteopetrosis and infantile neuroaxonal dystrophy 11.6
23 lrp5-related autosomal dominant osteopetrosis 11.6
24 ostm1-related autosomal recessive osteopetrosis 11.6
25 tcirg1-related autosomal recessive osteopetrosis 11.6
26 pycnodysostosis 11.2
27 raine syndrome 11.1
28 dysosteosclerosis 11.1
29 immunodeficiency 33 10.7
30 osteomyelitis 10.3
31 aicardi-goutieres syndrome 2 10.2 CLCN7 TNFSF11
32 familial mediterranean fever, ad 10.2 CLCN7 TNFSF11
33 phka2-related phosphorylase kinase deficiency 10.2 TNFRSF11A TNFSF11
34 trichodontoosseous syndrome 10.2 CLCN7 PLEKHM1
35 birk-barel mental retardation dysmorphism syndrome 10.2 TNFRSF11A TNFSF11
36 extrahepatic bile duct leiomyosarcoma 10.2 TNFRSF11A TNFSF11
37 epilepsy, idiopathic generalized 14 10.1 OSTM1 TNFRSF11A TNFSF11
38 renal tubular acidosis 10.1
39 hepatic fibrosis renal cysts mental retardation 10.1 TNFRSF11A TNFSF11
40 polyomavirus allograft nephropathy 10.1 TNFRSF11A TNFSF11
41 cerebritis 10.1
42 hematopoietic stem cell transplantation 10.0
43 14q12 microdeletion syndrome 10.0 CLCN7 SNX10 TCIRG1 TNFSF11
44 microcephaly 10, primary, autosomal recessive 10.0 CTSK TNFRSF11A TNFSF11
45 maroteaux stanescu cousin syndrome 10.0 CTSK TNFRSF11A TNFSF11
46 bronchus cancer 10.0 CTSK TNFRSF11A TNFSF11
47 glossitis 10.0 CTSK TNFRSF11A TNFSF11
48 ichthyosis vulgaris 10.0 CLCN7 CTSK MITF
49 rickets 9.9
50 microphthalmia 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:

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

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 SNX10 CA2 PLEKHM1

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 SRC TCIRG1 TNFRSF11A TNFSF11 CLCN7 CSF1
3 hematopoietic system MP:0005397 10.27 CLCN7 CSF1 CTSK IKBKG LRP5 MITF
4 immune system MP:0005387 10.27 CA2 CLCN7 CSF1 CTSK IKBKG LRP5
5 behavior/neurological MP:0005386 10.26 CLCN7 CSF1 IKBKG LRP5 MITF OSTM1
6 endocrine/exocrine gland MP:0005379 10.26 TCIRG1 TNFRSF11A TNFSF11 CA2 CSF1 CTSK
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 CTSK LRP5 MITF OSTM1 PLEKHM1 SRC
11 integument MP:0010771 10.03 CLCN7 CSF1 IKBKG MITF OSTM1 SRC
12 pigmentation MP:0001186 9.8 CLCN7 IKBKG LRP5 MITF OSTM1 SRC
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 CSF1 LRP5 MITF OSTM1 SRC TNFSF11

Drugs & Therapeutics for Osteopetrosis

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

(show top 50) (show all 71)
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 interferons Phase 4,Phase 3,Phase 2
4 Interferon-gamma Phase 4,Phase 3,Phase 2
5
Cyclosporine Approved, Investigational, Vet_approved Phase 2, Phase 3 79217-60-0, 59865-13-3 5284373 6435893
6
Methotrexate Approved Phase 2, Phase 3 1959-05-2, 59-05-2 126941
7
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
8
Fludarabine Approved Phase 2, Phase 3 21679-14-1, 75607-67-9 30751
9
Vidarabine Approved Phase 2, Phase 3 24356-66-9 32326 21704
10
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
11
Miconazole Approved, Investigational, Vet_approved Phase 2, Phase 3 22916-47-8 4189
12
alemtuzumab Approved, Investigational Phase 2, Phase 3 216503-57-0
13
leucovorin Approved, Nutraceutical Phase 2, Phase 3 58-05-9 54575, 6560146 143
14
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 59-30-3 6037
15
Calcitriol Approved, Nutraceutical Phase 3 32222-06-3 134070 5280453
16 Alkylating Agents Phase 2, Phase 3
17 Folic Acid Antagonists Phase 2, Phase 3
18 Nucleic Acid Synthesis Inhibitors Phase 2, Phase 3
19 Dermatologic Agents Phase 2, Phase 3
20 Vitamin B Complex Phase 2, Phase 3
21 Immunosuppressive Agents Phase 2, Phase 3
22 Antifungal Agents Phase 2, Phase 3
23 Antilymphocyte Serum Phase 2, Phase 3
24 Antimetabolites Phase 2, Phase 3
25 Antimetabolites, Antineoplastic Phase 2, Phase 3
26 Antirheumatic Agents Phase 2, Phase 3
27 Antineoplastic Agents, Alkylating Phase 2, Phase 3
28 Calcineurin Inhibitors Phase 2, Phase 3
29 Trace Elements Phase 3
30 Vasoconstrictor Agents Phase 3
31 Vitamins Phase 3,Phase 2
32 Micronutrients Phase 3
33 Bone Density Conservation Agents Phase 3
34 Calcium, Dietary Phase 3,Phase 1
35 Folate Nutraceutical Phase 2, Phase 3
36 Vitamin B9 Nutraceutical Phase 2, Phase 3
37
Melphalan Approved Phase 2 148-82-3 4053 460612
38
Epinephrine Approved, Vet_approved Phase 2 51-43-4 5816
39
Acetaminophen Approved Phase 2 103-90-2 1983
40
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
41
Hydroxyurea Approved Phase 2 127-07-1 3657
42
rituximab Approved Phase 2 174722-31-7 10201696
43
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
44
Diphenhydramine Approved Phase 2 58-73-1, 147-24-0 3100
45
Thiotepa Approved Phase 2 52-24-4 5453
46
Promethazine Approved Phase 2 60-87-7 4927
47
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
48
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
49
Lenograstim Approved Phase 2 135968-09-1
50
Clofarabine Approved, Investigational Phase 2 123318-82-1 119182

Interventional clinical trials:

(show all 16)
id Name Status NCT ID Phase
1 Post Marketing Surveillance Study of Actimmune in Patients With Severe, Malignant Osteopetrosis Completed NCT00043329 Phase 4
2 Hematopoietic Stem Cell Transplantation for Malignant Infantile Osteopetrosis Unknown status NCT01087398 Phase 2, Phase 3
3 Allogeneic Transplantation For Severe Osteopetrosis Unknown status NCT00775931 Phase 2, Phase 3
4 Risk-Adapted Allogeneic Stem Cell Transplantation For Mixed Donor Chimerism In Patients With Non-Malignant Diseases Unknown status NCT01019876 Phase 2, Phase 3
5 Phase III Randomized Study of Interferon Gamma in Children With Severe, Congenital Osteopetrosis Completed NCT00004402 Phase 3
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
8 MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis Recruiting NCT02171104 Phase 2
9 Use of ACTIMMUNE in Patients With ADO2 Recruiting NCT02584608 Phase 2
10 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2
11 Reduced Intensity AlloTransplant For Osteopetrosis Terminated NCT00638820 Phase 2
12 T-cell Depleted Alternative Donor Transplantation Terminated NCT00968864 Phase 2
13 rhPTH Therapy for Low Turnover Bone Fragility Terminated NCT00145886 Phase 1
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

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, Brain, Lung, T Cells, Thyroid, Neutrophil

Publications for Osteopetrosis

Articles related to Osteopetrosis:

(show top 50) (show all 630)
id Title Authors Year
1
Phenotypic severity of autosomal dominant osteopetrosis type II (ADO2) mice on different genetic backgrounds recapitulates the features of human disease. ( 27746321 )
2017
2
Atypical Association of Ethmoidal Encephalocele and Hydrocephalus in an Adult Patient with Autosomal-Dominant Osteopetrosis Type I (ADO-I): A Case Report. ( 26851742 )
2016
3
Autosomal dominant osteopetrosis associated with renal tubular acidosis is due to a CLCN7 mutation. ( 27540713 )
2016
4
Hypocalcemia presenting with multifocal seizure in a baby with osteopetrosis. ( 27062635 )
2016
5
Extending the Spectrum of Radiological Findings in Patients With Severe Osteopetrosis and Different Genetic Backgrounds. ( 26970326 )
2016
6
Oral Rehabilitation of an Osteopetrosis Patient with Osteomyelitis. ( 27148461 )
2016
7
Characterization of a Relatively Malignant Form of Osteopetrosis Caused by a Novel Mutation in the PLEKHM1 Gene. ( 27291868 )
2016
8
Homozygous Deletion of RAG1, RAG2 and 5' region TRAF6 Causes Severe Immune Suppression and Atypical Osteopetrosis. ( 27808398 )
2016
9
Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness. ( 27889061 )
2016
10
UNIQUE PRESENTATION OF OSTEOPETROSIS. ( 27323593 )
2016
11
Two novel mutations of CLCN7 gene in Chinese families with autosomal dominant osteopetrosis (type II). ( 26056022 )
2016
12
The Use of Whole Exome Sequencing for the Diagnosis of Autosomal Recessive Malignant Infantile Osteopetrosis. ( 27187610 )
2016
13
Hypocalcemia presenting with multifocal seizure in a baby with osteopetrosis. ( 27062632 )
2016
14
Myeloid Deletion of Nemo Causes Osteopetrosis in Mice Owing to Upregulation of Transcriptional Repressors. ( 27435916 )
2016
15
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
16
Dental care approach in patients with osteopetrosis. ( 27858309 )
2016
17
Ultrastructural Analyses of Alveolar Bone in a Patient With Osteomyelitis Secondary to Osteopetrosis: A Review of the Literature. ( 27000409 )
2016
18
Haploidentical transplantation with post-transplant cyclophosphamide following reduced-intensity conditioning for osteopetrosis: outcomes in three children. ( 27376448 )
2016
19
Clinical Characteristics and Treatment of Osteopetrosis Complicated by Osteomyelitis of the Mandible. ( 28005799 )
2016
20
Osteopetrosis in a neonatal donkey. ( 27671079 )
2016
21
Osteopetrosis in two siblings: two case reports. ( 26825064 )
2016
22
Diagnosis of osteopetrosis in bilateral congenital aural atresia: Turning point in treatment strategy. ( 27170934 )
2016
23
Proximal femoral fracture surgery in a patient with osteopetrosis tarda: complications and treatment strategy. ( 27843357 )
2016
24
Debridement in chronic osteomyelitis with benign osteopetrosis: A case report. ( 27882078 )
2016
25
A rare case of osteopetrosis mimicking osteosarcoma: 18F-FDG PET/CT findings in an unexpected diagnosis. ( 26875431 )
2016
26
Synonymous Mutations Add a Layer of Complexity in the Diagnosis of Human Osteopetrosis. ( 27468155 )
2016
27
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
28
Long-Term Follow-Up of Bimaxillary Osteomyelitis Associated with Autosomal Dominant Osteopetrosis: A Case Report. ( 26929564 )
2016
29
Regulation and Function of Lentiviral Vector-Mediated TCIRG1 Expression in Osteoclasts from Patients with Infantile Malignant Osteopetrosis: Implications for Gene Therapy. ( 27541021 )
2016
30
Outcomes after Unrelated Umbilical Cord Blood Transplantation for Children with Osteopetrosis. ( 27470286 )
2016
31
Enhanced but hypofunctional osteoclastogenesis in an autosomal dominant osteopetrosis type II case carrying a c.1856C>T mutation in CLCN7. ( 27990310 )
2016
32
Canonical Notch activation in osteocytes causes osteopetrosis. ( 26578715 )
2016
33
Reply: Response to: Rapid Skeletal Turnover in a Radiographic Mimic of Osteopetrosis Might Be Secondary to Systemic Mastocytosis. ( 26183677 )
2015
34
Identification and Characterization of Mutations in the CLCN7 Gene in a Taiwanese Patient with Infantile Malignant Osteopetrosis. ( 26365571 )
2015
35
Recommendations for fracture management in patients with osteopetrosis: case report. ( 25556660 )
2015
36
Non-total body irradiation myeloablative conditioning with intravenous busulfan and cyclophosphamide in hematopoietic stem cell transplantation for malignant infantile osteopetrosis. ( 25879376 )
2015
37
Infantile osteopetrosis associated with osteomyelitis. ( 25743862 )
2015
38
A novel mutation and a known mutation in the CLCN7 gene associated with relatively stable infantile malignant osteopetrosis in a Chinese patient. ( 26477479 )
2015
39
Total Hip and Knee arthroplasty in a patient with osteopetrosis: a case report and review of the literature. ( 26391128 )
2015
40
Osteopetrosis type II: Albers-Schonberg disease. ( 26453096 )
2015
41
Absence of Dap12 and the I+vI^3 integrin causes severe osteopetrosis. ( 25547154 )
2015
42
Buried in the Middle, But Guilty: Intronic Mutations in the TCIRG1 Gene Cause Human Autosomal Recessive Osteopetrosis. ( 25829125 )
2015
43
Radiologic resolution of malignant infantile osteopetrosis skeletal changes following hematopoietic stem cell transplantation. ( 25820806 )
2015
44
Osteopetrosis in obese female rats is site-specifically inhibited by physical training. ( 25557730 )
2015
45
Response to: Rapid Skeletal Turnover in Radiographic Mimic of Osteopetrosis Might Be Secondary to Systemic Mastocytosis. ( 25588359 )
2015
46
Bosentan-induced Reduction in Cyclosporine-A Levels: A Rare Interaction in an Infant With Osteopetrosis and Severe Pulmonary Hyperetension. ( 26274036 )
2015
47
Novel mutations of CLCN7 cause autosomal dominant osteopetrosis type II (ADO-II) and intermediate autosomal recessive osteopetrosis (IARO) in Chinese patients. ( 26395888 )
2015
48
Bone Mineral Density and Microarchitecture in Patients With Autosomal Dominant Osteopetrosis: A Report of Two Cases. ( 26387875 )
2015
49
Osteopetrosis and its relevance for the discovery of new functions associated with the skeleton. ( 25873953 )
2015
50
Improved Outcomes of Hematopoietic Stem Cell Transplantation in Patients With Infantile Malignant Osteopetrosis Using Fludarabine-Based Conditioning. ( 26485304 )
2015

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
12.75 IKBKG LRP5 MITF SRC TNFSF11
2
Show member pathways
12.34 IKBKG SRC TNFRSF11A TNFSF11
3
Show member pathways
12.21 IKBKG SRC TNFRSF11A TNFSF11
4
Show member pathways
12.18 CA2 IKBKG SRC TCIRG1
5
Show member pathways
11.97 IKBKG MITF SRC TNFRSF11A TNFSF11
6
Show member pathways
11.83 CTSK IKBKG MITF SRC TNFRSF11A TNFSF11
7 11.63 IKBKG TNFRSF11A TNFSF11
8 11.51 CSF1 CTSK TCIRG1 TNFRSF11A TNFSF11
9
Show member pathways
11.44 IKBKG TNFRSF11A TNFSF11
10 11.21 CSF1 CTSK IKBKG MITF TNFRSF11A TNFSF11
11 11.2 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 18)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.87 CSF1 LRP5 TCIRG1 TNFRSF11A
2 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.73 IKBKG TNFRSF11A TNFSF11
3 positive regulation of sequence-specific DNA binding transcription factor activity GO:0051091 9.7 LRP5 TNFRSF11A TNFSF11
4 response to interleukin-1 GO:0070555 9.58 SRC TNFRSF11A
5 mammary gland alveolus development GO:0060749 9.55 TNFRSF11A TNFSF11
6 regulation of osteoclast differentiation GO:0045670 9.54 MITF TNFSF11
7 response to pH GO:0009268 9.51 CA2 CLCN7
8 positive regulation of bone resorption GO:0045780 9.49 CA2 TNFSF11
9 cellular response to fluid shear stress GO:0071498 9.48 CA2 SRC
10 positive regulation of intracellular signal transduction GO:1902533 9.46 SRC TNFSF11
11 TNFSF11-mediated signaling pathway GO:0071847 9.43 TNFRSF11A TNFSF11
12 bone resorption GO:0045453 9.43 CTSK SRC TNFSF11
13 osteoclast proliferation GO:0002158 9.4 CSF1 TNFSF11
14 positive regulation of fever generation by positive regulation of prostaglandin secretion GO:0071812 9.37 TNFRSF11A TNFSF11
15 positive regulation of osteoclast differentiation GO:0045672 9.33 CA2 CSF1 TNFSF11
16 positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling GO:0071848 9.32 TNFRSF11A TNFSF11
17 branching involved in mammary gland duct morphogenesis GO:0060444 9.13 CSF1 LRP5 SRC
18 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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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