MCID: OST001
MIFTS: 62

Osteopetrosis

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

Aliases & Classifications for Osteopetrosis

MalaCards integrated aliases for Osteopetrosis:

Name: Osteopetrosis 38 12 53 25 37 29 55 6 15 73
Albers-Schonberg Disease 12 53
Congenital Osteopetrosis 25 73
Marble Bone Disease 53 25
Osteopetroses 53 25
Albers-Schonberg Osteopetrosis 53
Albers-Schoenberg Disease 53
Albersschonberg Disease 76
Osteosclerosis Fragilis 53
Osteopetrosis, 76
Marble Bones 53
Marble Bone 12

Classifications:



External Ids:

Disease Ontology 12 DOID:13533
ICD10 33 Q78.2
ICD9CM 35 756.52
MeSH 44 D010022
NCIt 50 C26840
SNOMED-CT 68 1926006 63941000
KEGG 37 H00436

Summaries for Osteopetrosis

NIH Rare Diseases : 53 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.

MalaCards based summary : Osteopetrosis, also known as albers-schonberg disease, is related to osteopetrosis, autosomal recessive 6 and osteopetrosis, autosomal recessive 2. An important gene associated with Osteopetrosis is OSTM1 (Osteoclastogenesis Associated Transmembrane Protein 1), and among its related pathways/superpathways are Osteoclast differentiation and Rheumatoid arthritis. The drugs Fludarabine and leucovorin 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 : 76 Osteopetrosis, literally "stone bone", also known as marble bone disease, or 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
Osteopetrosis, Autosomal Dominant 3 Clcn7-Related Osteopetrosis
Autosomal Recessive Malignant Osteopetrosis

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

(show top 50) (show all 172)
# Related Disease Score Top Affiliating Genes
1 osteopetrosis, autosomal recessive 6 34.3 CLCN7 PLEKHM1 TCIRG1
2 osteopetrosis, autosomal recessive 2 34.2 CLCN7 TNFRSF11A TNFSF11
3 osteopetrosis, autosomal recessive 7 34.1 CSF1 TNFRSF11A TNFSF11
4 osteopetrosis, autosomal recessive 3 34.0 CA2 CLCN7 CSF1 TCIRG1
5 osteopetrosis, autosomal dominant 2 33.7 CLCN7 CTSK LRP5 TCIRG1 TNFSF11
6 autosomal recessive malignant osteopetrosis 33.5 CLCN7 SNX10 TCIRG1 TNFSF11
7 pycnodysostosis 32.2 CLCN7 CTSK MITF
8 bone resorption disease 30.2 CTSK LRP5 TNFRSF11A TNFSF11
9 endosteal hyperostosis, autosomal dominant 30.1 CLCN7 CSF1 CTSK LRP5 OSTM1 PLEKHM1
10 paget's disease of bone 29.6 CSF1 TNFRSF11A TNFSF11
11 osteoporosis 29.3 CA2 CSF1 CTSK LRP5 TNFRSF11A TNFSF11
12 bone disease 29.1 CLCN7 CSF1 CTSK LRP5 OSTM1 SRC
13 osteopetrosis, autosomal recessive 1 12.6
14 osteopetrosis, autosomal dominant 1 12.6
15 osteopetrosis, autosomal recessive 5 12.5
16 osteopetrosis, autosomal recessive 4 12.5
17 ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema 12.5
18 coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness 12.4
19 osteopetrosis, autosomal recessive 8 12.4
20 osteopetrosis, autosomal dominant 3 12.3
21 infantile osteopetrosis with neuroaxonal dysplasia 12.1
22 clcn7-related osteopetrosis 12.1
23 osteopetrosis and infantile neuroaxonal dystrophy 12.0
24 raine syndrome 11.3
25 dysosteosclerosis 11.3
26 trichodentoosseous syndrome 11.0
27 immunodeficiency 33 11.0
28 osteomyelitis 10.6
29 renal tubular acidosis 10.4
30 head injury 10.4
31 hematopoietic stem cell transplantation 10.3
32 rickets 10.3
33 polyarticular onset juvenile idiopathic arthritis 10.2 TNFRSF11A TNFSF11
34 breast leiomyosarcoma 10.2 TNFRSF11A TNFSF11
35 hemophilic arthropathy 10.2 TNFRSF11A TNFSF11
36 paget disease of bone 5, juvenile-onset 10.2 TNFRSF11A TNFSF11
37 familial expansile osteolysis 10.2 TNFRSF11A TNFSF11
38 hydrocephalus 10.2
39 leukemia 10.2
40 microphthalmia 10.2
41 aneurysmal bone cysts 10.2 TNFRSF11A TNFSF11
42 periapical periodontitis 10.1 TNFRSF11A TNFSF11
43 mastocytosis 10.1
44 hypomelanosis of ito 10.1 IKBKG MITF
45 multicentric reticulohistiocytosis 10.1 CSF1 TNFSF11
46 hypercementosis 10.1 CTSK TNFRSF11A
47 acroosteolysis 10.0
48 osteonecrosis 10.0
49 systemic mastocytosis 10.0
50 mandibular cancer 10.0 CSF1 TNFSF11

Graphical network of the top 20 diseases related to Osteopetrosis:



Diseases related to Osteopetrosis

Symptoms & Phenotypes for Osteopetrosis

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

26
# 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:

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

Drugs & Therapeutics for Osteopetrosis

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

(show top 50) (show all 60)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fludarabine Approved Phase 2, Phase 3,Phase 3,Not Applicable 75607-67-9, 21679-14-1 30751
2
leucovorin Approved Phase 2, Phase 3 58-05-9 6006 143
3
Miconazole Approved, Investigational, Vet_approved Phase 2, Phase 3 22916-47-8 4189
4
Methotrexate Approved Phase 2, Phase 3 59-05-2, 1959-05-2 126941
5
Busulfan Approved, Investigational Phase 2, Phase 3,Phase 3,Not Applicable 55-98-1 2478
6
Cyclophosphamide Approved, Investigational Phase 2, Phase 3,Phase 3,Not Applicable 6055-19-2, 50-18-0 2907
7
Vidarabine Approved, Investigational Phase 2, Phase 3,Phase 3 24356-66-9 32326 21704
8
alemtuzumab Approved, Investigational Phase 2, Phase 3,Phase 3 216503-57-0
9
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 59-30-3 6037
10
Calcitriol Approved, Nutraceutical Phase 3 32222-06-3 5280453 134070
11 Dermatologic Agents Phase 2, Phase 3
12 Vitamin B9 Phase 2, Phase 3
13 Folic Acid Antagonists Phase 2, Phase 3
14 Antineoplastic Agents, Alkylating Phase 2, Phase 3,Phase 3
15 Immunologic Factors Phase 2, Phase 3,Phase 3,Not Applicable
16 Calcineurin Inhibitors Phase 2, Phase 3
17 Antilymphocyte Serum Phase 2, Phase 3
18 Alkylating Agents Phase 2, Phase 3,Phase 3
19 Cyclosporins Phase 2, Phase 3,Not Applicable
20 Vitamin B Complex Phase 2, Phase 3
21 Antirheumatic Agents Phase 2, Phase 3,Phase 3
22 Nucleic Acid Synthesis Inhibitors Phase 2, Phase 3
23 Antifungal Agents Phase 2, Phase 3
24 Thymoglobulin Phase 2, Phase 3
25 Antimetabolites Phase 2, Phase 3,Phase 3
26 Antimetabolites, Antineoplastic Phase 2, Phase 3,Phase 3
27 Immunosuppressive Agents Phase 2, Phase 3,Phase 3
28 Folate Phase 2, Phase 3
29 Anti-Infective Agents Phase 2, Phase 3,Phase 3
30 Antiviral Agents Phase 2, Phase 3,Phase 3
31 Micronutrients Phase 3
32 Vasoconstrictor Agents Phase 3
33 Bone Density Conservation Agents Phase 3
34 Trace Elements Phase 3
35 Vitamins Phase 3,Phase 2
36 Interferon-gamma Phase 3,Phase 2
37 interferons Phase 3,Phase 2
38 Calcium, Dietary Phase 3,Phase 1
39
rituximab Approved Phase 2,Not Applicable 174722-31-7 10201696
40
Thiotepa Approved, Investigational Phase 2,Not Applicable 52-24-4 5453
41
Tocopherol Approved, Investigational Phase 2 1406-66-2 14986
42
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
43
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
44
Melphalan Approved Phase 2,Not Applicable 148-82-3 4053 460612
45
Hydroxyurea Approved Phase 2 127-07-1 3657
46
Adenosine Approved, Investigational Phase 2 58-61-7 60961
47
Clofarabine Approved, Investigational Phase 2 123318-82-1 119182
48
Lenograstim Approved, Investigational Phase 2 135968-09-1
49
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
50 Tocotrienol Investigational Phase 2 6829-55-6

Interventional clinical trials:

(show all 20)
# Name Status NCT ID Phase Drugs
1 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)
2 Allogeneic Transplantation For Severe Osteopetrosis Unknown status NCT00775931 Phase 2, Phase 3 Campath-1H;Cyclophosphamide;Busulfan;Fludarabine monophosphate
3 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
4 Phase III Randomized Study of Interferon Gamma in Children With Severe, Congenital Osteopetrosis Completed NCT00004402 Phase 3 calcitriol;interferon gamma
5 Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells Completed NCT00730314 Phase 1, Phase 2
6 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)
7 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2 Hydroxyurea;Alemtuzumab;Fludarabine;Melphalan;Thiotepa
8 ACTIMMUNE in Intermediate Osteopetrosis Active, not recruiting NCT02666768 Phase 2 Interferon gamma-1b
9 Use of ACTIMMUNE in Patients With ADO2 Active, not recruiting NCT02584608 Phase 2 ACTIMMUNE
10 Study of Gene Modified Donor T-cells Following TCR Alpha Beta Positive Depleted Stem Cell Transplant Active, not recruiting NCT03301168 Phase 1, Phase 2 AP1903
11 Safety Study of Gene Modified Donor T-cells Following TCR Alpha Beta Depleted Stem Cell Transplant Active, not recruiting NCT02065869 Phase 1, Phase 2 rimiducid
12 Reduced Intensity AlloTransplant For Osteopetrosis Terminated NCT00638820 Phase 2 Campath, Busulfan, Clofarabine
13 T-cell Depleted Alternative Donor Transplantation Terminated NCT00968864 Phase 2
14 rhPTH Therapy for Low Turnover Bone Fragility Terminated NCT00145886 Phase 1 rhPTH
15 Post Marketing Surveillance Study of Actimmune in Patients With Severe, Malignant Osteopetrosis Completed NCT00043329 Actimmune Registry
16 Clinical Assessment of Patients With High Bone Mass Due to Mutation in Lrp5 Completed NCT01199094
17 Cone-beam vs Multidetector Computed Tomography (CT) for Arthrography of the Wrist, Ankle, Elbow and Knee Completed NCT01771393 Not Applicable
18 Longitudinal Study of Neurodegenerative Disorders Recruiting NCT03333200
19 Expanded Access Protocol (EAP) Using the CliniMACS® Device for Pediatric Haplocompatible Donor Stem Cell Transplant Available NCT01200017
20 Stem Cell Transplantation for Children Affected With Osteopetrosis Terminated NCT00145587 Not Applicable Systemic chemotherapy and antibodies

Search NIH Clinical Center for Osteopetrosis

Inferred drug relations via UMLS 73 / NDF-RT 51 :


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

Genetic tests related to Osteopetrosis:

# Genetic test Affiliating Genes
1 Osteopetrosis 29

Anatomical Context for Osteopetrosis

MalaCards organs/tissues related to Osteopetrosis:

41
Bone, Bone Marrow, Brain, T Cells, Myeloid, Thyroid, Lung

Publications for Osteopetrosis

Articles related to Osteopetrosis:

(show top 50) (show all 1055)
# Title Authors Year
1
An Exceptional Neurosurgical Presentation of a Patient with Osteopetrosis. ( 29935324 )
2018
2
Effects of hypothalamic leptin gene therapy on osteopetrosis in leptin-deficient mice. ( 29191939 )
2018
3
Successful hematopoietic stem cell transplantation for osteopetrosis using reduced intensity conditioning. ( 29469225 )
2018
4
Cervical spine fractures in osteopetrosis: a case report and review of the literature. ( 29353820 )
2018
5
Complex Heterozygous Mutation in the T-cell Immune Regulator 1 Gene Associated with Severe Ocular Characteristics of Osteopetrosis in an Infant. ( 29363653 )
2018
6
An unusual presentation of patella and fifth metatarsal base fractures in a patient with osteopetrosis. ( 29928105 )
2018
7
Anterior cervical arthrodesis for chronic hangman's fracture in a patient with osteopetrosis: a case report. ( 29429065 )
2018
8
Impact of hematopoietic stem cell transplant on VEP and ABR values of the patients with malignant infantile osteopetrosis. ( 29730165 )
2018
9
Whole exome sequencing identified two novel homozygous missense variants in the same codon of CLCN7 underlying autosomal recessive infantile malignant osteopetrosis in a Pakistani family. ( 29926385 )
2018
10
Osteopetrosis with renal tubular acidosis and cerebral calcification. ( 29571443 )
2018
11
Genetics of Osteopetrosis. ( 29335834 )
2018
12
Visual Function Improvement After Optic Nerve Sheath Fenestration in Osteopetrosis Patients with Optic Canal Stenosis: A Report of Two Cases. ( 29796051 )
2018
13
Endoscopic third ventriculostomy for hydrocephalus in osteopetrosis: a case report and review of the literature. ( 29327079 )
2018
14
Infantile Osteopetrosis. ( 29462001 )
2018
15
RNA interference therapy for autosomal dominant osteopetrosis type 2. Towards the preclinical development. ( 29501587 )
2018
16
Comparison of Optic Canal Diameter in Children With Malignant Infantile Osteopetrosis and Normal Children and the Effects of Hematopoietic Stem Cell Transplantation on the Optic Canal Diameter. ( 30371911 )
2018
17
Maxillary osteomyelitis associated with osteopetrosis: Systematic review. ( 30309794 )
2018
18
Clinical Significance of DXA and HR-pQCT in Autosomal Dominant Osteopetrosis (ADO II). ( 29018903 )
2018
19
Short stature and bone structure abnormalities in two siblings. Pycnodysostosis (also known as osteopetrosis acro-osteolytica). ( 29687148 )
2018
20
Osteopetrosis-Anesthetic Considerations for Total Knee Arthroplasty: A Case Report. ( 29994871 )
2018
21
Ocular Manifestations of Albers-Schoenberg Disease (Osteopetrosis). ( 30024019 )
2018
22
PARADIGM CHANGE IN BONE MASS: OSTEOPENIA TO OSTEOPETROSIS. ( 30035622 )
2018
23
Autosomal recessive osteopetrosis type I: description of pathogenic variant of TCIRG1 gene. ( 30084437 )
2018
24
Bilateral endoscopic optic nerve decompression in an infant with osteopetrosis. ( 30171897 )
2018
25
MSC-Seeded Biomimetic Scaffolds as a Factory of Soluble RANKL in Rankl-Deficient Osteopetrosis. ( 30184340 )
2018
26
Genetic Analysis of CLCN7 in an Old Female Patient with Type II Autosomal Dominant Osteopetrosis. ( 30229577 )
2018
27
Locking plate osteosynthesis for a femoral fracture and subsequent nonunion in a patient with osteopetrosis. ( 30273906 )
2018
28
Fractures in patients with osteopetrosis, insights from a single institution. ( 30284606 )
2018
29
CLCN7 and TCIRG1 mutations in a single family: Evidence for digenic inheritance of osteopetrosis. ( 30431110 )
2018
30
The Use of Distraction Osteogenesis and a Taylor Spatial Frame in the Treatment of a Tibial Shaft Nonunion and Deformity in a Pediatric Patient with Osteopetrosis: A Case Report. ( 30489377 )
2018
31
Inheritance patterns, challenges, and outcomes of fracture management in osteopetrosis patients. CASE series and review of pertinent literature. ( 30505439 )
2018
32
Potential oligogenic disease of mental retardation, short stature, spastic paraparesis, and osteopetrosis. ( 30510438 )
2018
33
Ophthalmic phenotype of TCIRG1 gene mutations in Chinese infantile malignant osteopetrosis. ( 30539151 )
2018
34
Albers-Schönberg disease. ( 29761793 )
2018
35
Phenotypic severity of autosomal dominant osteopetrosis type II (ADO2) mice on different genetic backgrounds recapitulates the features of human disease. ( 27746321 )
2017
36
Renal Tubular Acidosis, Osteopetrosis, and Cerebral Calcification: A Rare Syndrome Caused by Carbonic Anhydrase II Deficiency. ( 28761241 )
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
Diagnosis and Management of Osteopetrosis: Consensus Guidelines From the Osteopetrosis Working Group. ( 28655174 )
2017
39
Novel CLCN7 compound heterozygous mutations in intermediate autosomal recessive osteopetrosis. ( 28819563 )
2017
40
Targeting NSG Mice Engrafting Cells with a Clinically Applicable Lentiviral Vector Corrects Osteoclasts in Infantile Malignant Osteopetrosis. ( 28726516 )
2017
41
Osteopetrosis in twin infants mimicking leukemia. ( 29150114 )
2017
42
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
43
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
44
Case update on cranial osteopetrosis: which is the role of the neurosurgeon? ( 28762040 )
2017
45
[Analysis of TCIRG1 gene mutation in a Chinese family affected with infantile malignant osteopetrosis]. ( 28604959 )
2017
46
A Rare Case of Osteopetrosis with Unusual Feature as Microcephaly. ( 28969233 )
2017
47
Decompressive Cranioplasty in a Patient with Osteopetrosis. ( 28867326 )
2017
48
Novel mutations of TCIRG1 cause a malignant and mild phenotype of autosomal recessive osteopetrosis (ARO) in four Chinese families. ( 28816234 )
2017
49
Anesthesia Management of a Child with Osteopetrosis. ( 28928594 )
2017
50
Rugger-jersey spine in osteopetrosis. ( 28433978 )
2017

Variations for Osteopetrosis

ClinVar genetic disease variations for Osteopetrosis:

6 (show top 50) (show all 580)
# Gene Variation Type Significance SNP ID Assembly Location
1 CLCN7 NM_001287.5(CLCN7): c.1252G> A (p.Val418Met) single nucleotide variant Benign/Likely benign rs12926089 GRCh37 Chromosome 16, 1502857: 1502857
2 CLCN7 NM_001287.5(CLCN7): c.1252G> A (p.Val418Met) single nucleotide variant Benign/Likely benign rs12926089 GRCh38 Chromosome 16, 1452856: 1452856
3 CLCN7 NM_001287.5(CLCN7): c.126T> C (p.Pro42=) single nucleotide variant Benign rs3751884 GRCh37 Chromosome 16, 1524850: 1524850
4 CLCN7 NM_001287.5(CLCN7): c.126T> C (p.Pro42=) single nucleotide variant Benign rs3751884 GRCh38 Chromosome 16, 1474849: 1474849
5 TNFSF11 NM_003701.3(TNFSF11): c.214G> A (p.Ala72Thr) single nucleotide variant Uncertain significance rs142756983 GRCh37 Chromosome 13, 43148653: 43148653
6 TNFSF11 NM_003701.3(TNFSF11): c.214G> A (p.Ala72Thr) single nucleotide variant Uncertain significance rs142756983 GRCh38 Chromosome 13, 42574517: 42574517
7 TNFSF11 NM_003701.3(TNFSF11): c.126T> C (p.Pro42=) single nucleotide variant Benign rs2296533 GRCh37 Chromosome 13, 43148565: 43148565
8 TNFSF11 NM_003701.3(TNFSF11): c.126T> C (p.Pro42=) single nucleotide variant Benign rs2296533 GRCh38 Chromosome 13, 42574429: 42574429
9 TNFRSF11A NM_003839.3(TNFRSF11A): c.75+5G> A single nucleotide variant Benign/Likely benign rs146553439 GRCh37 Chromosome 18, 59992665: 59992665
10 TNFRSF11A NM_003839.3(TNFRSF11A): c.75+5G> A single nucleotide variant Benign/Likely benign rs146553439 GRCh38 Chromosome 18, 62325432: 62325432
11 TNFRSF11A NM_003839.3(TNFRSF11A): c.-9T> C single nucleotide variant Benign/Likely benign rs1805033 GRCh37 Chromosome 18, 59992577: 59992577
12 TNFRSF11A NM_003839.3(TNFRSF11A): c.-9T> C single nucleotide variant Benign/Likely benign rs1805033 GRCh38 Chromosome 18, 62325344: 62325344
13 TNFRSF11A NM_003839.3(TNFRSF11A): c.6C> G (p.Ala2=) single nucleotide variant Benign/Likely benign rs35589394 GRCh37 Chromosome 18, 59992591: 59992591
14 TNFRSF11A NM_003839.3(TNFRSF11A): c.6C> G (p.Ala2=) single nucleotide variant Benign/Likely benign rs35589394 GRCh38 Chromosome 18, 62325358: 62325358
15 OSTM1 NM_014028.3(OSTM1): c.221C> G (p.Pro74Arg) single nucleotide variant Benign/Likely benign rs141735624 GRCh37 Chromosome 6, 108395635: 108395635
16 OSTM1 NM_014028.3(OSTM1): c.221C> G (p.Pro74Arg) single nucleotide variant Benign/Likely benign rs141735624 GRCh38 Chromosome 6, 108074431: 108074431
17 CLCN7 NM_001287.5(CLCN7): c.900G> A (p.Ala300=) single nucleotide variant Benign/Likely benign rs41286695 GRCh37 Chromosome 16, 1506130: 1506130
18 CLCN7 NM_001287.5(CLCN7): c.900G> A (p.Ala300=) single nucleotide variant Benign/Likely benign rs41286695 GRCh38 Chromosome 16, 1456129: 1456129
19 TCIRG1 NM_006019.3(TCIRG1): c.1515C> T (p.Thr505=) single nucleotide variant Conflicting interpretations of pathogenicity rs34211419 GRCh37 Chromosome 11, 67815400: 67815400
20 TCIRG1 NM_006019.3(TCIRG1): c.1515C> T (p.Thr505=) single nucleotide variant Conflicting interpretations of pathogenicity rs34211419 GRCh38 Chromosome 11, 68047933: 68047933
21 TCIRG1 NM_006019.3(TCIRG1): c.1672G> C (p.Val558Leu) single nucleotide variant Benign rs35089741 GRCh37 Chromosome 11, 67816463: 67816463
22 TCIRG1 NM_006019.3(TCIRG1): c.1672G> C (p.Val558Leu) single nucleotide variant Benign rs35089741 GRCh38 Chromosome 11, 68048996: 68048996
23 TNFSF11 NM_003701.3(TNFSF11): c.387+14G> A single nucleotide variant Benign rs2277439 GRCh37 Chromosome 13, 43155443: 43155443
24 TNFSF11 NM_003701.3(TNFSF11): c.387+14G> A single nucleotide variant Benign rs2277439 GRCh38 Chromosome 13, 42581307: 42581307
25 TCIRG1 NM_006019.3(TCIRG1): c.417+11A> G single nucleotide variant Benign rs3808974 GRCh37 Chromosome 11, 67810341: 67810341
26 TCIRG1 NM_006019.3(TCIRG1): c.417+11A> G single nucleotide variant Benign rs3808974 GRCh38 Chromosome 11, 68042874: 68042874
27 TCIRG1 NM_006019.3(TCIRG1): c.384C> T (p.His128=) single nucleotide variant Benign/Likely benign rs3808973 GRCh37 Chromosome 11, 67810297: 67810297
28 TCIRG1 NM_006019.3(TCIRG1): c.384C> T (p.His128=) single nucleotide variant Benign/Likely benign rs3808973 GRCh38 Chromosome 11, 68042830: 68042830
29 TCIRG1 NM_006019.3(TCIRG1): c.247A> G (p.Lys83Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs142855299 GRCh37 Chromosome 11, 67810160: 67810160
30 TCIRG1 NM_006019.3(TCIRG1): c.247A> G (p.Lys83Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs142855299 GRCh38 Chromosome 11, 68042693: 68042693
31 TCIRG1 NM_006019.3(TCIRG1): c.482C> T (p.Pro161Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs34227834 GRCh37 Chromosome 11, 67810477: 67810477
32 TCIRG1 NM_006019.3(TCIRG1): c.482C> T (p.Pro161Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs34227834 GRCh38 Chromosome 11, 68043010: 68043010
33 CLCN7 NM_001287.5(CLCN7): c.*19A> G single nucleotide variant Benign/Likely benign rs11860968 GRCh38 Chromosome 16, 1446612: 1446612
34 CLCN7 NM_001287.5(CLCN7): c.*19A> G single nucleotide variant Benign/Likely benign rs11860968 GRCh37 Chromosome 16, 1496613: 1496613
35 CLCN7 NM_001287.5(CLCN7): c.1798-8G> A single nucleotide variant Benign/Likely benign rs35915213 GRCh38 Chromosome 16, 1448774: 1448774
36 CLCN7 NM_001287.5(CLCN7): c.1798-8G> A single nucleotide variant Benign/Likely benign rs35915213 GRCh37 Chromosome 16, 1498775: 1498775
37 CLCN7 NM_001287.5(CLCN7): c.1798-10C> T single nucleotide variant Benign/Likely benign rs35939214 GRCh38 Chromosome 16, 1448776: 1448776
38 CLCN7 NM_001287.5(CLCN7): c.1798-10C> T single nucleotide variant Benign/Likely benign rs35939214 GRCh37 Chromosome 16, 1498777: 1498777
39 CLCN7 NM_001287.5(CLCN7): c.1614G> A (p.Ala538=) single nucleotide variant Benign/Likely benign rs117461525 GRCh38 Chromosome 16, 1450500: 1450500
40 CLCN7 NM_001287.5(CLCN7): c.1614G> A (p.Ala538=) single nucleotide variant Benign/Likely benign rs117461525 GRCh37 Chromosome 16, 1500501: 1500501
41 CLCN7 NM_001287.5(CLCN7): c.1245T> C (p.Ile415=) single nucleotide variant Benign/Likely benign rs12926669 GRCh38 Chromosome 16, 1452863: 1452863
42 CLCN7 NM_001287.5(CLCN7): c.1245T> C (p.Ile415=) single nucleotide variant Benign/Likely benign rs12926669 GRCh37 Chromosome 16, 1502864: 1502864
43 CLCN7 NM_001287.5(CLCN7): c.1170A> T (p.Ala390=) single nucleotide variant Benign rs2235579 GRCh38 Chromosome 16, 1453878: 1453878
44 CLCN7 NM_001287.5(CLCN7): c.1170A> T (p.Ala390=) single nucleotide variant Benign rs2235579 GRCh37 Chromosome 16, 1503879: 1503879
45 CLCN7 NM_001287.5(CLCN7): c.1128G> A (p.Pro376=) single nucleotide variant Benign/Likely benign rs12935737 GRCh37 Chromosome 16, 1504437: 1504437
46 CLCN7 NM_001287.5(CLCN7): c.1128G> A (p.Pro376=) single nucleotide variant Benign/Likely benign rs12935737 GRCh38 Chromosome 16, 1454436: 1454436
47 CLCN7 NM_001287.5(CLCN7): c.660C> T (p.His220=) single nucleotide variant Benign/Likely benign rs12923538 GRCh38 Chromosome 16, 1459122: 1459122
48 CLCN7 NM_001287.5(CLCN7): c.660C> T (p.His220=) single nucleotide variant Benign/Likely benign rs12923538 GRCh37 Chromosome 16, 1509123: 1509123
49 CLCN7 NM_001287.5(CLCN7): c.485-10T> C single nucleotide variant Benign/Likely benign rs35280276 GRCh38 Chromosome 16, 1460537: 1460537
50 CLCN7 NM_001287.5(CLCN7): c.485-10T> C single nucleotide variant Benign/Likely benign rs35280276 GRCh37 Chromosome 16, 1510538: 1510538

Expression for Osteopetrosis

Search GEO for disease gene expression data for Osteopetrosis.

Pathways for Osteopetrosis

Pathways related to Osteopetrosis according to KEGG:

37
# 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
12.03 CTSK IKBKG MITF SRC TNFRSF11A TNFSF11
7
Show member pathways
11.97 IKBKG MITF SRC TNFRSF11A TNFSF11
8 11.65 IKBKG TNFRSF11A TNFSF11
9
Show member pathways
11.5 IKBKG TNFRSF11A TNFSF11
10 11.31 CSF1 CSK SRC
11 11.31 CSF1 CTSK TCIRG1 TNFRSF11A TNFSF11
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 membrane GO:0016020 9.93 CA2 CLCN7 CSF1 CSK LRP5 OSTM1
2 lysosome GO:0005764 9.26 CLCN7 CTSK PLEKHM1 SRC
3 lysosomal membrane GO:0005765 8.92 CLCN7 OSTM1 PLEKHM1 TCIRG1

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.9 CSF1 MITF SRC TNFSF11
2 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.77 IKBKG TNFRSF11A TNFSF11
3 positive regulation of MAP kinase activity GO:0043406 9.67 CSK SRC TNFSF11
4 calcium ion homeostasis GO:0055074 9.61 SNX10 TNFSF11
5 cellular response to peptide hormone stimulus GO:0071375 9.58 CSK SRC
6 bone remodeling GO:0046849 9.58 LRP5 MITF
7 mammary gland alveolus development GO:0060749 9.57 TNFRSF11A TNFSF11
8 regulation of osteoclast differentiation GO:0045670 9.56 MITF TNFSF11
9 cellular response to fluid shear stress GO:0071498 9.55 CA2 SRC
10 response to pH GO:0009268 9.54 CA2 CLCN7
11 positive regulation of intracellular signal transduction GO:1902533 9.52 SRC TNFSF11
12 osteoclast development GO:0036035 9.51 SRC TNFSF11
13 positive regulation of osteoclast differentiation GO:0045672 9.5 CA2 CSF1 TNFSF11
14 tooth eruption GO:0044691 9.48 SNX10 TNFSF11
15 TNFSF11-mediated signaling pathway GO:0071847 9.46 TNFRSF11A TNFSF11
16 bone resorption GO:0045453 9.46 CTSK SNX10 SRC TNFSF11
17 osteoclast proliferation GO:0002158 9.43 CSF1 TNFSF11
18 branching involved in mammary gland duct morphogenesis GO:0060444 9.43 CSF1 LRP5 SRC
19 positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling GO:0071848 9.4 TNFRSF11A TNFSF11
20 positive regulation of fever generation by positive regulation of prostaglandin secretion GO:0071812 9.37 TNFRSF11A TNFSF11
21 positive regulation of bone resorption GO:0045780 9.26 CA2 PLEKHM1 TNFRSF11A TNFSF11
22 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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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