MCID: OST001
MIFTS: 61

Osteopetrosis

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

Aliases & Classifications for Osteopetrosis

MalaCards integrated aliases for Osteopetrosis:

Name: Osteopetrosis 38 12 53 25 37 29 55 6 44 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
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
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 dominant 2 and osteopetrosis, autosomal recessive 2. 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 Busulfan and Cyclophosphamide 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 : 76 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
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 153)
# Related Disease Score Top Affiliating Genes
1 osteopetrosis, autosomal dominant 2 34.9 CLCN7 TNFSF11
2 osteopetrosis, autosomal recessive 2 34.8 CLCN7 TNFSF11
3 osteopetrosis, autosomal recessive 6 34.5 CLCN7 PLEKHM1 TCIRG1
4 autosomal recessive malignant osteopetrosis 33.3 CLCN7 SNX10 TCIRG1 TNFSF11
5 pycnodysostosis 31.9 CLCN7 CTSK MITF
6 paget's disease of bone 29.3 CSF1 TNFRSF11A TNFSF11
7 osteoporosis 27.5 CA2 CSF1 CTSK LRP5 TNFRSF11A TNFSF11
8 endosteal hyperostosis, autosomal dominant 26.5 CLCN7 CSF1 CTSK LRP5 OSTM1 PLEKHM1
9 bone disease 26.4 CLCN7 CSF1 CTSK LRP5 SRC TNFRSF11A
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 coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness 12.3
18 osteopetrosis, autosomal recessive 8 12.3
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 trichodentoosseous syndrome 10.8
25 immunodeficiency 33 10.8
26 polyarticular onset juvenile idiopathic arthritis 10.7 TNFRSF11A TNFSF11
27 breast leiomyosarcoma 10.6 TNFRSF11A TNFSF11
28 hemophilic arthropathy 10.6 TNFRSF11A TNFSF11
29 paget disease of bone 5, juvenile-onset 10.6 TNFRSF11A TNFSF11
30 familial expansile osteolysis 10.5 TNFRSF11A TNFSF11
31 aneurysmal bone cysts 10.5 TNFRSF11A TNFSF11
32 periapical periodontitis 10.4 TNFRSF11A TNFSF11
33 osteomyelitis 10.4
34 renal tubular acidosis 10.2
35 cerebritis 10.2
36 multicentric reticulohistiocytosis 10.2 CSF1 TNFSF11
37 hypercementosis 10.2 CTSK TNFRSF11A
38 hematopoietic stem cell transplantation 10.2
39 mandibular cancer 10.1 CSF1 TNFSF11
40 type i 10.1
41 multicentric carpotarsal osteolysis syndrome 10.1 CTSK TNFRSF11A TNFSF11
42 tooth resorption 10.1 CTSK TNFRSF11A TNFSF11
43 root resorption 10.1 CTSK TNFRSF11A TNFSF11
44 epithelioid cell melanoma 10.1 CTSK MITF
45 hydrocephalus 10.0
46 rickets 10.0
47 microphthalmia 10.0
48 jaw cancer 9.9 CSF1 TNFSF11
49 aging 9.9
50 leukemia 9.9

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 TNFSF11 TNFRSF11A CLCN7 CSK CSF1 CA2
2 hematopoietic system MP:0005397 10.37 TNFSF11 CLCN7 CSK CSF1 LRP5 OSTM1
3 immune system MP:0005387 10.37 TNFSF11 CSK CTSK CSF1 CA2 CLCN7
4 craniofacial MP:0005382 10.34 TNFSF11 CTSK CSF1 CLCN7 CSK LRP5
5 endocrine/exocrine gland MP:0005379 10.33 TNFSF11 CSK CSF1 CA2 LRP5 CTSK
6 behavior/neurological MP:0005386 10.32 TNFSF11 TNFRSF11A CLCN7 CSK CSF1 IKBKG
7 cellular MP:0005384 10.31 TNFRSF11A CLCN7 CSK CSF1 IKBKG MITF
8 homeostasis/metabolism MP:0005376 10.29 TNFSF11 TNFRSF11A CLCN7 CA2 CSF1 IKBKG
9 mortality/aging MP:0010768 10.25 TNFSF11 TNFRSF11A CLCN7 CSK CSF1 CA2
10 limbs/digits/tail MP:0005371 10.2 TNFSF11 CTSK CSF1 CLCN7 LRP5 OSTM1
11 integument MP:0010771 10.08 TNFSF11 TNFRSF11A CLCN7 CSF1 IKBKG MITF
12 nervous system MP:0003631 10.06 CSK CLCN7 CA2 CSF1 MITF LRP5
13 normal MP:0002873 9.91 TNFSF11 CSK IKBKG MITF LRP5 PLEKHM1
14 pigmentation MP:0001186 9.8 CLCN7 IKBKG MITF LRP5 SRC OSTM1
15 reproductive system MP:0005389 9.8 TNFSF11 TNFRSF11A CA2 CSF1 IKBKG MITF
16 skeleton MP:0005390 9.77 TNFSF11 CTSK CSF1 CA2 CLCN7 LRP5
17 respiratory system MP:0005388 9.76 TNFSF11 TNFRSF11A CLCN7 CSK CSF1 CA2
18 vision/eye MP:0005391 9.23 TNFSF11 CSK CLCN7 CSF1 MITF LRP5

Drugs & Therapeutics for Osteopetrosis

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

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

Interventional clinical trials:

(show all 18)
# 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 ACTIMMUNE in Intermediate Osteopetrosis Recruiting NCT02666768 Phase 2 Interferon gamma-1b
7 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)
8 Use of ACTIMMUNE in Patients With ADO2 Recruiting NCT02584608 Phase 2 ACTIMMUNE
9 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2 Hydroxyurea;Alemtuzumab;Fludarabine;Melphalan;Thiotepa
10 Reduced Intensity AlloTransplant For Osteopetrosis Terminated NCT00638820 Phase 2 Campath, Busulfan, Clofarabine
11 T-cell Depleted Alternative Donor Transplantation Terminated NCT00968864 Phase 2
12 rhPTH Therapy for Low Turnover Bone Fragility Terminated NCT00145886 Phase 1 rhPTH
13 Post Marketing Surveillance Study of Actimmune in Patients With Severe, Malignant Osteopetrosis Completed NCT00043329 Actimmune Registry
14 Clinical Assessment of Patients With High Bone Mass Due to Mutation in Lrp5 Completed NCT01199094
15 Cone-beam vs Multidetector Computed Tomography (CT) for Arthrography of the Wrist, Ankle, Elbow and Knee Completed NCT01771393 Not Applicable
16 Longitudinal Study of Neurodegenerative Disorders Recruiting NCT03333200
17 Expanded Access Protocol (EAP) Using the CliniMACS® Device for Pediatric Haplocompatible Donor Stem Cell Transplant Available NCT01200017
18 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.

Cochrane evidence based reviews: osteopetrosis

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, T Cells, Brain, Thyroid, Lung, Neutrophil

Publications for Osteopetrosis

Articles related to Osteopetrosis:

(show top 50) (show all 688)
# 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
Clinical Significance of DXA and HR-pQCT in Autosomal Dominant Osteopetrosis (ADO II). ( 29018903 )
2018
17
Phenotypic severity of autosomal dominant osteopetrosis type II (ADO2) mice on different genetic backgrounds recapitulates the features of human disease. ( 27746321 )
2017
18
Renal Tubular Acidosis, Osteopetrosis, and Cerebral Calcification: A Rare Syndrome Caused by Carbonic Anhydrase II Deficiency. ( 28761241 )
2017
19
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
20
Diagnosis and Management of Osteopetrosis: Consensus Guidelines From the Osteopetrosis Working Group. ( 28655174 )
2017
21
Novel CLCN7 compound heterozygous mutations in intermediate autosomal recessive osteopetrosis. ( 28819563 )
2017
22
Targeting NSG Mice Engrafting Cells with a Clinically Applicable Lentiviral Vector Corrects Osteoclasts in Infantile Malignant Osteopetrosis. ( 28726516 )
2017
23
Osteopetrosis in twin infants mimicking leukemia. ( 29150114 )
2017
24
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
25
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
26
Case update on cranial osteopetrosis: which is the role of the neurosurgeon? ( 28762040 )
2017
27
[Analysis of TCIRG1 gene mutation in a Chinese family affected with infantile malignant osteopetrosis]. ( 28604959 )
2017
28
A Rare Case of Osteopetrosis with Unusual Feature as Microcephaly. ( 28969233 )
2017
29
Decompressive Cranioplasty in a Patient with Osteopetrosis. ( 28867326 )
2017
30
Novel mutations of TCIRG1 cause a malignant and mild phenotype of autosomal recessive osteopetrosis (ARO) in four Chinese families. ( 28816234 )
2017
31
Anesthesia Management of a Child with Osteopetrosis. ( 28928594 )
2017
32
Rugger-jersey spine in osteopetrosis. ( 28433978 )
2017
33
Infantile Osteopetrosis in a Kazakh Boy. ( 28457121 )
2017
34
Malignant Infantile Osteopetrosis. ( 28718264 )
2017
35
Case report: A 10 years follow-up of periprosthetic femoral fracture after total hip arthroplasty in osteopetrosis. ( 28550971 )
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
Human-Aided Movement of Viral Disease and the Archaeology of Avian Osteopetrosis. ( 29104410 )
2017
38
Novel mutations of CLCN7 cause autosomal dominant osteopetrosis type II (ADOII) and intermediate autosomal recessive osteopetrosis (ARO) in seven Chinese families. ( 28975865 )
2017
39
Hematopoietic cell transplantation for a child with OSTM1 osteopetrosis. ( 29296943 )
2017
40
Successful open reduction and internal fixation for displaced femoral fracture in a patient with osteopetrosis: Case report and lessons learned. ( 28816960 )
2017
41
A Novel Mutation in<i>SNX10</i>Gene Causes Malignant Infantile Osteopetrosis. ( 29090071 )
2017
42
Radiological findings in autosomal recessive infantile osteopetrosis. ( 28838823 )
2017
43
SNX10 gene mutation leading to osteopetrosis with dysfunctional osteoclasts. ( 28592808 )
2017
44
Technical particularities of joint preserving hip surgery in osteopetrosis. ( 29250335 )
2017
45
Guided growth for valgus deformity correction of knees in a girl with osteopetrosis: a case report. ( 28593359 )
2017
46
Periodontal profile and radiographic characterization of the jaws in a patient with autosomal dominant osteopetrosis. ( 28469925 )
2017
47
Osteopetrosis. ( 28423297 )
2017
48
A rare case of osteopetrosis mimicking osteosarcoma: 18F-FDG PET/CT findings in an unexpected diagnosis. ( 26875431 )
2016
49
Clinical Characteristics and Treatment of Osteopetrosis Complicated by Osteomyelitis of the Mandible. ( 28005799 )
2016
50
Enhanced but hypofunctional osteoclastogenesis in an autosomal dominant osteopetrosis type II case carrying a c.1856C&amp;gt;T mutation in CLCN7. ( 27990310 )
2016

Variations for Osteopetrosis

ClinVar genetic disease variations for Osteopetrosis:

6
(show top 50) (show all 578)
# Gene Variation Type Significance SNP ID Assembly Location
1 CLCN7 NM_001287.5(CLCN7): c.126T> C (p.Pro42=) single nucleotide variant Benign rs3751884 GRCh37 Chromosome 16, 1524850: 1524850
2 CLCN7 NM_001287.5(CLCN7): c.126T> C (p.Pro42=) single nucleotide variant Benign rs3751884 GRCh38 Chromosome 16, 1474849: 1474849
3 TNFSF11 NM_003701.3(TNFSF11): c.214G> A (p.Ala72Thr) single nucleotide variant Uncertain significance rs142756983 GRCh37 Chromosome 13, 43148653: 43148653
4 TNFSF11 NM_003701.3(TNFSF11): c.214G> A (p.Ala72Thr) single nucleotide variant Uncertain significance rs142756983 GRCh38 Chromosome 13, 42574517: 42574517
5 TNFSF11 NM_003701.3(TNFSF11): c.126T> C (p.Pro42=) single nucleotide variant Benign rs2296533 GRCh37 Chromosome 13, 43148565: 43148565
6 TNFSF11 NM_003701.3(TNFSF11): c.126T> C (p.Pro42=) single nucleotide variant Benign rs2296533 GRCh38 Chromosome 13, 42574429: 42574429
7 TNFRSF11A NM_003839.3(TNFRSF11A): c.75+5G> A single nucleotide variant Benign/Likely benign rs146553439 GRCh37 Chromosome 18, 59992665: 59992665
8 TNFRSF11A NM_003839.3(TNFRSF11A): c.75+5G> A single nucleotide variant Benign/Likely benign rs146553439 GRCh38 Chromosome 18, 62325432: 62325432
9 TNFRSF11A NM_003839.3(TNFRSF11A): c.-9T> C single nucleotide variant Benign/Likely benign rs1805033 GRCh37 Chromosome 18, 59992577: 59992577
10 TNFRSF11A NM_003839.3(TNFRSF11A): c.-9T> C single nucleotide variant Benign/Likely benign rs1805033 GRCh38 Chromosome 18, 62325344: 62325344
11 TNFRSF11A NM_003839.3(TNFRSF11A): c.6C> G (p.Ala2=) single nucleotide variant Benign/Likely benign rs35589394 GRCh37 Chromosome 18, 59992591: 59992591
12 TNFRSF11A NM_003839.3(TNFRSF11A): c.6C> G (p.Ala2=) single nucleotide variant Benign/Likely benign rs35589394 GRCh38 Chromosome 18, 62325358: 62325358
13 OSTM1 NM_014028.3(OSTM1): c.221C> G (p.Pro74Arg) single nucleotide variant Benign/Likely benign rs141735624 GRCh37 Chromosome 6, 108395635: 108395635
14 OSTM1 NM_014028.3(OSTM1): c.221C> G (p.Pro74Arg) single nucleotide variant Benign/Likely benign rs141735624 GRCh38 Chromosome 6, 108074431: 108074431
15 CLCN7 NM_001287.5(CLCN7): c.900G> A (p.Ala300=) single nucleotide variant Benign/Likely benign rs41286695 GRCh37 Chromosome 16, 1506130: 1506130
16 CLCN7 NM_001287.5(CLCN7): c.900G> A (p.Ala300=) single nucleotide variant Benign/Likely benign rs41286695 GRCh38 Chromosome 16, 1456129: 1456129
17 TCIRG1 NM_006019.3(TCIRG1): c.1515C> T (p.Thr505=) single nucleotide variant Conflicting interpretations of pathogenicity rs34211419 GRCh37 Chromosome 11, 67815400: 67815400
18 TCIRG1 NM_006019.3(TCIRG1): c.1515C> T (p.Thr505=) single nucleotide variant Conflicting interpretations of pathogenicity rs34211419 GRCh38 Chromosome 11, 68047933: 68047933
19 TCIRG1 NM_006019.3(TCIRG1): c.1672G> C (p.Val558Leu) single nucleotide variant Benign rs35089741 GRCh37 Chromosome 11, 67816463: 67816463
20 TCIRG1 NM_006019.3(TCIRG1): c.1672G> C (p.Val558Leu) single nucleotide variant Benign rs35089741 GRCh38 Chromosome 11, 68048996: 68048996
21 TNFSF11 NM_003701.3(TNFSF11): c.387+14G> A single nucleotide variant Benign rs2277439 GRCh37 Chromosome 13, 43155443: 43155443
22 TNFSF11 NM_003701.3(TNFSF11): c.387+14G> A single nucleotide variant Benign rs2277439 GRCh38 Chromosome 13, 42581307: 42581307
23 TCIRG1 NM_006019.3(TCIRG1): c.417+11A> G single nucleotide variant Benign rs3808974 GRCh37 Chromosome 11, 67810341: 67810341
24 TCIRG1 NM_006019.3(TCIRG1): c.417+11A> G single nucleotide variant Benign rs3808974 GRCh38 Chromosome 11, 68042874: 68042874
25 TCIRG1 NM_006019.3(TCIRG1): c.384C> T (p.His128=) single nucleotide variant Benign/Likely benign rs3808973 GRCh37 Chromosome 11, 67810297: 67810297
26 TCIRG1 NM_006019.3(TCIRG1): c.384C> T (p.His128=) single nucleotide variant Benign/Likely benign rs3808973 GRCh38 Chromosome 11, 68042830: 68042830
27 TCIRG1 NM_006019.3(TCIRG1): c.247A> G (p.Lys83Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs142855299 GRCh37 Chromosome 11, 67810160: 67810160
28 TCIRG1 NM_006019.3(TCIRG1): c.247A> G (p.Lys83Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs142855299 GRCh38 Chromosome 11, 68042693: 68042693
29 TCIRG1 NM_006019.3(TCIRG1): c.482C> T (p.Pro161Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs34227834 GRCh37 Chromosome 11, 67810477: 67810477
30 TCIRG1 NM_006019.3(TCIRG1): c.482C> T (p.Pro161Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs34227834 GRCh38 Chromosome 11, 68043010: 68043010
31 CLCN7 NM_001287.5(CLCN7): c.*19A> G single nucleotide variant Likely benign rs11860968 GRCh38 Chromosome 16, 1446612: 1446612
32 CLCN7 NM_001287.5(CLCN7): c.*19A> G single nucleotide variant Likely benign rs11860968 GRCh37 Chromosome 16, 1496613: 1496613
33 CLCN7 NM_001287.5(CLCN7): c.1798-8G> A single nucleotide variant Likely benign rs35915213 GRCh38 Chromosome 16, 1448774: 1448774
34 CLCN7 NM_001287.5(CLCN7): c.1798-8G> A single nucleotide variant Likely benign rs35915213 GRCh37 Chromosome 16, 1498775: 1498775
35 CLCN7 NM_001287.5(CLCN7): c.1798-10C> T single nucleotide variant Likely benign rs35939214 GRCh38 Chromosome 16, 1448776: 1448776
36 CLCN7 NM_001287.5(CLCN7): c.1798-10C> T single nucleotide variant Likely benign rs35939214 GRCh37 Chromosome 16, 1498777: 1498777
37 CLCN7 NM_001287.5(CLCN7): c.1614G> A (p.Ala538=) single nucleotide variant Likely benign rs117461525 GRCh38 Chromosome 16, 1450500: 1450500
38 CLCN7 NM_001287.5(CLCN7): c.1614G> A (p.Ala538=) single nucleotide variant Likely benign rs117461525 GRCh37 Chromosome 16, 1500501: 1500501
39 CLCN7 NM_001287.5(CLCN7): c.1245T> C (p.Ile415=) single nucleotide variant Benign/Likely benign rs12926669 GRCh38 Chromosome 16, 1452863: 1452863
40 CLCN7 NM_001287.5(CLCN7): c.1245T> C (p.Ile415=) single nucleotide variant Benign/Likely benign rs12926669 GRCh37 Chromosome 16, 1502864: 1502864
41 CLCN7 NM_001287.5(CLCN7): c.1170A> T (p.Ala390=) single nucleotide variant Benign rs2235579 GRCh38 Chromosome 16, 1453878: 1453878
42 CLCN7 NM_001287.5(CLCN7): c.1170A> T (p.Ala390=) single nucleotide variant Benign rs2235579 GRCh37 Chromosome 16, 1503879: 1503879
43 CLCN7 NM_001287.5(CLCN7): c.1128G> A (p.Pro376=) single nucleotide variant Likely benign rs12935737 GRCh37 Chromosome 16, 1504437: 1504437
44 CLCN7 NM_001287.5(CLCN7): c.1128G> A (p.Pro376=) single nucleotide variant Likely benign rs12935737 GRCh38 Chromosome 16, 1454436: 1454436
45 CLCN7 NM_001287.5(CLCN7): c.660C> T (p.His220=) single nucleotide variant Likely benign rs12923538 GRCh38 Chromosome 16, 1459122: 1459122
46 CLCN7 NM_001287.5(CLCN7): c.660C> T (p.His220=) single nucleotide variant Likely benign rs12923538 GRCh37 Chromosome 16, 1509123: 1509123
47 CLCN7 NM_001287.5(CLCN7): c.485-10T> C single nucleotide variant Likely benign rs35280276 GRCh38 Chromosome 16, 1460537: 1460537
48 CLCN7 NM_001287.5(CLCN7): c.485-10T> C single nucleotide variant Likely benign rs35280276 GRCh37 Chromosome 16, 1510538: 1510538
49 TNFRSF11A NM_003839.3(TNFRSF11A): c.-39G> A single nucleotide variant Likely benign rs7238731 GRCh38 Chromosome 18, 62325314: 62325314
50 TNFRSF11A NM_003839.3(TNFRSF11A): c.-39G> A single nucleotide variant Likely benign rs7238731 GRCh37 Chromosome 18, 59992547: 59992547

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 13)
# 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
12.24 IKBKG SRC TNFRSF11A TNFSF11
4
Show member pathways
12.23 IKBKG SRC TNFRSF11A TNFSF11
5
Show member pathways
12.17 CA2 CSK IKBKG SRC TCIRG1
6
Show member pathways
12.03 CTSK IKBKG MITF SRC TNFRSF11A TNFSF11
7 11.65 IKBKG TNFRSF11A TNFSF11
8
Show member pathways
11.5 IKBKG TNFRSF11A TNFSF11
9 11.31 CSF1 CSK SRC
10 11.31 CSF1 CTSK TCIRG1 TNFRSF11A TNFSF11
11 11.21 CSF1 CTSK IKBKG MITF TNFRSF11A TNFSF11
12 11.2 CA2 TNFRSF11A TNFSF11
13 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 23)
# Name GO ID Score Top Affiliating Genes
1 regulation of cell proliferation GO:0042127 9.83 CSK MITF SRC TNFRSF11A
2 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.79 IKBKG TNFRSF11A TNFSF11
3 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.77 CSF1 CSK SRC
4 positive regulation of DNA binding transcription factor activity GO:0051091 9.75 LRP5 TNFRSF11A TNFSF11
5 positive regulation of MAP kinase activity GO:0043406 9.67 CSK SRC TNFSF11
6 cellular response to peptide hormone stimulus GO:0071375 9.61 CSK SRC
7 mammary gland alveolus development GO:0060749 9.59 TNFRSF11A TNFSF11
8 regulation of osteoclast differentiation GO:0045670 9.58 MITF TNFSF11
9 bone remodeling GO:0046849 9.57 LRP5 MITF
10 regulation of ossification GO:0030278 9.56 CSF1 LRP5
11 cellular response to fluid shear stress GO:0071498 9.55 CA2 SRC
12 response to pH GO:0009268 9.54 CA2 CLCN7
13 positive regulation of intracellular signal transduction GO:1902533 9.51 SRC TNFSF11
14 bone resorption GO:0045453 9.5 CTSK SRC TNFSF11
15 osteoclast development GO:0036035 9.48 SRC TNFSF11
16 TNFSF11-mediated signaling pathway GO:0071847 9.46 TNFRSF11A TNFSF11
17 osteoclast proliferation GO:0002158 9.43 CSF1 TNFSF11
18 positive regulation of osteoclast differentiation GO:0045672 9.43 CA2 CSF1 TNFSF11
19 positive regulation of fever generation by positive regulation of prostaglandin secretion GO:0071812 9.4 TNFRSF11A TNFSF11
20 positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling GO:0071848 9.37 TNFRSF11A TNFSF11
21 branching involved in mammary gland duct morphogenesis GO:0060444 9.33 CSF1 LRP5 SRC
22 positive regulation of bone resorption GO:0045780 9.26 CA2 PLEKHM1 TNFRSF11A TNFSF11
23 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
Content
Loading form....