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MIFTS: 70

Osteopetrosis

Categories: Blood diseases, Bone diseases, Cancer diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Immune diseases, Liver diseases, Nephrological diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Osteopetrosis

About this section

MalaCards integrated aliases for Osteopetrosis:

Name: Osteopetrosis 12 73 20 43 36 29 54 6 15 37 70 32
Albers-Schonberg Disease 12 73 20
Osteopetroses 20 43 6
Osteopetrosis and Related Disorders 20 58
Congenital Osteopetrosis 43 70
Marble Bone Disease 20 43
Albers-Schonberg Osteopetrosis 20
Albers-Schoenberg Disease 20
Osteosclerosis Fragilis 20
Marble Bones 20
Marble Bone 12

Characteristics:

Orphanet epidemiological data:

58
osteopetrosis and related disorders
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Age of onset: All ages;

Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases Genetic diseases Cancer diseases
Anatomical: Bone diseases Eye diseases Nephrological diseases Blood diseases Neuronal diseases Immune diseases Ear diseases Liver diseases
See all MalaCards categories (disease lists)
ICD10: 32 33
Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


Sources

Summaries for Osteopetrosis

About this section
MedlinePlus Genetics : 43 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.Autosomal dominant osteopetrosis (ADO), which is also called Albers-Schönberg disease, is typically the mildest type of the disorder. Some affected individuals have no symptoms. In these people, the unusually dense bones may be discovered by accident when an x-ray is done for another reason. In affected individuals who develop signs and symptoms, the major features of the condition include multiple bone fractures, abnormal side-to-side curvature of the spine (scoliosis) or other spinal abnormalities, arthritis in the hips, and a bone infection called osteomyelitis. These problems usually become apparent in late childhood or adolescence.Autosomal recessive osteopetrosis (ARO) is a more severe form of the disorder that becomes apparent in early infancy. Affected individuals have a high risk of bone fracture resulting from seemingly minor bumps and falls. Their abnormally dense skull bones pinch nerves in the head and face (cranial nerves), often resulting in vision loss, hearing loss, and paralysis of facial muscles. Dense bones can also impair the function of bone marrow, preventing it from producing new blood cells and immune system cells. As a result, people with severe osteopetrosis are at risk of abnormal bleeding, a shortage of red blood cells (anemia), and recurrent infections. In the most severe cases, these bone marrow abnormalities can be life-threatening in infancy or early childhood.Other features of autosomal recessive osteopetrosis can include slow growth and short stature, dental abnormalities, and an enlarged liver and spleen (hepatosplenomegaly). Depending on the genetic changes involved, people with severe osteopetrosis can also have brain abnormalities, intellectual disability, or recurrent seizures (epilepsy).A few individuals have been diagnosed with intermediate autosomal osteopetrosis (IAO), a form of the disorder that can have either an autosomal dominant or an autosomal recessive pattern of inheritance. The signs and symptoms of this condition become noticeable in childhood and include an increased risk of bone fracture and anemia. People with this form of the disorder typically do not have life-threatening bone marrow abnormalities. However, some affected individuals have had abnormal calcium deposits (calcifications) in the brain, intellectual disability, and a form of kidney disease called renal tubular acidosis.Rarely, osteopetrosis can have an X-linked pattern of inheritance. In addition to abnormally dense bones, the X-linked form of the disorder is characterized by abnormal swelling caused by a buildup of fluid (lymphedema) and a condition called anhydrotic ectodermal dysplasia that affects the skin, hair, teeth, and sweat glands. Affected individuals also have a malfunctioning immune system (immunodeficiency), which allows severe, recurrent infections to develop. Researchers often refer to this condition as OL-EDA-ID, an acronym derived from each of the major features of the disorder.

MalaCards based summary : Osteopetrosis, also known as albers-schonberg disease, is related to osteopetrosis, autosomal recessive 1 and osteopetrosis, autosomal recessive 6. An important gene associated with Osteopetrosis is CLCN7 (Chloride Voltage-Gated Channel 7), and among its related pathways/superpathways are Osteoclast differentiation and Rheumatoid arthritis. The drugs Fludarabine and alemtuzumab have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and spleen, and related phenotypes are macrocephaly and hearing impairment

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

GARD : 20 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.

KEGG : 36 The osteopetroses are a heterogeneous group of disorders characterized by increased bone density and the replacement of trabecular bone with compact bone due to reduced osteoclastic bone resorption. Some osteopetrotic conditions exhibit additional clinical features including renal tubular acidosis and secondary neurological impairment. In forms of osteopetrosis with normal osteoclast counts, most of the mutated genes encode proteins that regulate the intra- and extracellular pH of osteoclasts, such as TCIRG1 gene encoding for the a3 subunit of the V-ATPase and CLCN7 gene. In cases with decreased osteoclast counts, osteoclast differentiation is impaired by mutations in RANKL or RANK. These RANK-deficient patients could be rescued by hematopoietic stem cell transplantation.

Wikipedia : 73 Osteopetrosis, literally "stone bone", also known as marble bone disease or Albers-Schönberg disease, is... more...

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Related Diseases for Osteopetrosis

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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 402)
# Related Disease Score Top Affiliating Genes
1 osteopetrosis, autosomal recessive 1 33.3 TCIRG1 CLCN7
2 osteopetrosis, autosomal recessive 6 33.3 TNFSF11 TCIRG1 PLEKHM1 CLCN7
3 osteopetrosis, autosomal recessive 4 33.2 TNFSF11 TCIRG1 CLCN7
4 osteopetrosis, autosomal recessive 3 33.2 TCIRG1 SNX10 OSTM1 CLCN7 CA2
5 osteopetrosis, autosomal recessive 7 33.2 TNFSF11 TNFRSF11A TCIRG1 CSF1 CLCN7
6 osteopetrosis, autosomal dominant 2 33.2 TNFSF11 TCIRG1 CLCN7 BGLAP ACP5
7 osteopetrosis, autosomal dominant 1 33.2 LRP5 CLCN7
8 osteopetrosis, autosomal recessive 5 33.1 TNFSF11 TCIRG1 OSTM1 LRP5 CLCN7 CA2
9 osteopetrosis, autosomal recessive 2 33.0 TNFSF11 TCIRG1 PLEKHM1 OSTM1 CTSK CLCN7
10 autosomal recessive malignant osteopetrosis 32.7 TNFSF11 TCIRG1 SNX10 CLCN7
11 osteopetrosis, autosomal recessive 8 32.7 TNFSF11 TCIRG1 SNX10 PLEKHM1 OSTM1 CTSK
12 pycnodysostosis 31.8 TNFSF11 TCIRG1 PLEKHM1 OSTM1 MITF CTSK
13 osteomyelitis 31.5 TNFSF11 CTSK ACP5
14 renal tubular acidosis 31.3 TCIRG1 CLCN7 CA2
15 bone resorption disease 31.2 TNFSF11 TNFRSF11B TNFRSF11A LRP5 CTSK CSF1
16 bone disease 30.6 TNFSF11 TNFRSF11B TNFRSF11A SRC OSTM1 LRP5
17 sclerosteosis 30.6 TNFSF11 LRP5 CTSK BGLAP
18 microphthalmia 30.6 TNFSF11 MITF LRP5 IKBKG CTSK ACP5
19 dysosteosclerosis 30.5 TNFRSF11A TCIRG1 CSF1R
20 osteonecrosis 30.5 TNFSF11 TNFRSF11B LRP5 BGLAP ACP5
21 van buchem disease 30.4 TNFSF11 LRP5 BGLAP
22 hyperparathyroidism 30.4 TNFSF11 TNFRSF11B BGLAP ACP5
23 periodontitis 30.3 TNFSF11 CTSK BGLAP ACP5
24 mammary paget's disease 30.3 TNFSF11 TNFRSF11B TNFRSF11A BGLAP ACP5
25 ankylosis 30.3 TNFSF11 TNFRSF11B BGLAP
26 secondary hyperparathyroidism 30.2 TNFRSF11B BGLAP ACP5
27 scoliosis 30.2 TNFSF11 TNFRSF11B TNFRSF11A CTSK BGLAP ACP5
28 craniodiaphyseal dysplasia 30.1 TCIRG1 SNX10 PLEKHM1 LRP5 CLCN7
29 fibrous dysplasia 30.1 TNFSF11 TNFRSF11A BGLAP
30 craniometaphyseal dysplasia, autosomal dominant 30.1 TNFSF11 TNFRSF11B TNFRSF11A TCIRG1 SNX10 PLEKHM1
31 camurati-engelmann disease 30.0 TNFRSF11A LRP5 BGLAP ACP5
32 bone giant cell tumor 30.0 TNFSF11 TNFRSF11A CTSK CSF1 ACP5
33 paget's disease of bone 30.0 TRAF6 TNFSF11 TNFRSF11B TNFRSF11A CSF1 BGLAP
34 endosteal hyperostosis, autosomal dominant 29.9 TNFSF11 TNFRSF11B TCIRG1 OSTM1 LRP5 CTSK
35 periodontitis, chronic 29.9 TNFSF11 TNFRSF11B
36 familial expansile osteolysis 29.9 TNFSF11 TNFRSF11B TNFRSF11A
37 root resorption 29.9 TNFSF11 TNFRSF11B TNFRSF11A CTSK
38 odontochondrodysplasia 29.9 TNFSF11 LRP5 CTSK CLCN7 BGLAP ACP5
39 sclerosteosis 1 29.8 LRP5 BGLAP
40 brittle bone disorder 29.8 TNFSF11 TNFRSF11B TNFRSF11A LRP5 CTSK BGLAP
41 spondyloarthropathy 1 29.8 TNFSF11 TNFRSF11B BGLAP
42 rheumatoid arthritis 29.4 TNFSF11 TNFRSF11B TNFRSF11A CTSK CSF1R CSF1
43 osteoporosis 29.3 TRAF6 TNFSF11 TNFRSF11B TNFRSF11A TCIRG1 SRC
44 osteopetrosis, autosomal dominant 3 11.5
45 ectodermal dysplasia and immunodeficiency 1 11.5
46 coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness 11.4
47 osteopetrosis and infantile neuroaxonal dystrophy 11.1
48 clcn7-related osteopetrosis 11.0
49 csf1r-related brain malformation and osteopetrosis 11.0
50 infantile osteopetrosis with neuroaxonal dysplasia 11.0

Graphical network of the top 20 diseases related to Osteopetrosis:



Diseases related to Osteopetrosis
Sources

Symptoms & Phenotypes for Osteopetrosis

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Human phenotypes related to Osteopetrosis:

31 (show all 41)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 31 hallmark (90%) HP:0000256
2 hearing impairment 31 hallmark (90%) HP:0000365
3 abnormal cortical bone morphology 31 hallmark (90%) HP:0003103
4 hypophosphatemia 31 hallmark (90%) HP:0002148
5 fever 31 hallmark (90%) HP:0001945
6 cranial nerve paralysis 31 hallmark (90%) HP:0006824
7 reduced bone mineral density 31 hallmark (90%) HP:0004349
8 growth delay 31 hallmark (90%) HP:0001510
9 abnormal cranial nerve morphology 31 hallmark (90%) HP:0001291
10 abnormality of vision 31 hallmark (90%) HP:0000504
11 abnormality of the ribs 31 hallmark (90%) HP:0000772
12 recurrent fractures 31 hallmark (90%) HP:0002757
13 hypocalcemia 31 hallmark (90%) HP:0002901
14 peripheral neuropathy 31 hallmark (90%) HP:0009830
15 osteomyelitis 31 hallmark (90%) HP:0002754
16 petechiae 31 hallmark (90%) HP:0000967
17 craniosynostosis 31 hallmark (90%) HP:0001363
18 bone pain 31 hallmark (90%) HP:0002653
19 lymphadenopathy 31 hallmark (90%) HP:0002716
20 osteopetrosis 31 hallmark (90%) HP:0011002
21 abnormal pelvis bone ossification 31 hallmark (90%) HP:0009106
22 sclerotic vertebral endplates 31 hallmark (90%) HP:0004576
23 abnormality of vertebral epiphysis morphology 31 hallmark (90%) HP:0100734
24 sandwich appearance of vertebral bodies 31 hallmark (90%) HP:0004618
25 immunodeficiency 31 frequent (33%) HP:0002721
26 bruising susceptibility 31 frequent (33%) HP:0000978
27 persistence of primary teeth 31 frequent (33%) HP:0006335
28 leukocytosis 31 frequent (33%) HP:0001974
29 intellectual disability 31 occasional (7.5%) HP:0001249
30 nystagmus 31 occasional (7.5%) HP:0000639
31 sleep apnea 31 occasional (7.5%) HP:0010535
32 splenomegaly 31 occasional (7.5%) HP:0001744
33 mandibular prognathia 31 occasional (7.5%) HP:0000303
34 carious teeth 31 occasional (7.5%) HP:0000670
35 genu valgum 31 occasional (7.5%) HP:0002857
36 thrombocytopenia 31 occasional (7.5%) HP:0001873
37 abnormal pulmonary valve morphology 31 occasional (7.5%) HP:0001641
38 osteoarthritis 31 occasional (7.5%) HP:0002758
39 bone marrow hypocellularity 31 occasional (7.5%) HP:0005528
40 renal tubular acidosis 31 occasional (7.5%) HP:0001947
41 abnormal chorioretinal morphology 31 occasional (7.5%) HP:0000532

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

26 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-3 9.72 CSF1R
2 Decreased viability GR00221-A-1 9.72 CSF1R CSK TNFRSF11B
3 Decreased viability GR00221-A-2 9.72 TNFRSF11B
4 Decreased viability GR00221-A-3 9.72 CSK
5 Decreased viability GR00221-A-4 9.72 CSF1R
6 Decreased viability GR00240-S-1 9.72 TNFRSF11A
7 Decreased viability GR00249-S 9.72 ACP5 CA2 CLCN7 CSF1 TNFRSF11B
8 Decreased viability GR00301-A 9.72 SRC
9 Decreased viability GR00381-A-1 9.72 CTSK
10 Decreased viability GR00386-A-1 9.72 SNX10 TCIRG1 TNFSF11
11 Decreased viability GR00402-S-2 9.72 CLCN7 CSF1R CTSK MITF TCIRG1 TNFRSF11B

MGI Mouse Phenotypes related to Osteopetrosis:

46 (show all 19)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.48 CA2 CLCN7 CSF1 CSF1R CSK CTSK
2 hematopoietic system MP:0005397 10.48 BGLAP CLCN7 CSF1 CSF1R CSK CTSK
3 immune system MP:0005387 10.47 BGLAP CA2 CLCN7 CSF1 CSF1R CSK
4 behavior/neurological MP:0005386 10.46 CLCN7 CSF1 CSF1R CSK CTSK IKBKG
5 cellular MP:0005384 10.45 BGLAP CLCN7 CSF1 CSF1R CSK CTSK
6 craniofacial MP:0005382 10.44 CLCN7 CSF1 CSF1R CSK CTSK LRP5
7 endocrine/exocrine gland MP:0005379 10.43 BGLAP CA2 CSF1 CSF1R CSK CTSK
8 homeostasis/metabolism MP:0005376 10.39 BGLAP CA2 CLCN7 CSF1 CSF1R CTSK
9 mortality/aging MP:0010768 10.34 CA2 CLCN7 CSF1 CSF1R CSK IKBKG
10 limbs/digits/tail MP:0005371 10.33 CLCN7 CSF1 CSF1R CTSK LRP5 MITF
11 integument MP:0010771 10.18 CLCN7 CSF1 CSF1R IKBKG MITF OSTM1
12 nervous system MP:0003631 10.14 CA2 CLCN7 CSF1 CSF1R CSK CTSK
13 normal MP:0002873 10.02 CLCN7 CSF1R CSK IKBKG LRP5 MITF
14 hearing/vestibular/ear MP:0005377 10.01 CSF1 CSF1R CSK MITF TNFRSF11B TRAF6
15 reproductive system MP:0005389 10 BGLAP CA2 CSF1 CSF1R CTSK IKBKG
16 skeleton MP:0005390 9.89 BGLAP CA2 CLCN7 CSF1 CSF1R CTSK
17 pigmentation MP:0001186 9.87 CLCN7 IKBKG LRP5 MITF OSTM1 SRC
18 respiratory system MP:0005388 9.76 CA2 CLCN7 CSF1 CSK CTSK SRC
19 vision/eye MP:0005391 9.36 CLCN7 CSF1 CSK LRP5 MITF OSTM1
Sources

Drugs & Therapeutics for Osteopetrosis

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

(show top 50) (show all 61)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fludarabine Approved Phase 2, Phase 3 21679-14-1, 75607-67-9 30751
2
alemtuzumab Approved, Investigational Phase 2, Phase 3 216503-57-0
3
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
4
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
5
Levoleucovorin Approved, Investigational Phase 2, Phase 3 68538-85-2 149436
6
Methotrexate Approved Phase 2, Phase 3 1959-05-2, 59-05-2 126941
7
Clotrimazole Approved, Vet_approved Phase 2, Phase 3 23593-75-1 2812
8
Miconazole Approved, Investigational, Vet_approved Phase 2, Phase 3 22916-47-8 4189
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 Immunosuppressive Agents Phase 2, Phase 3
12 Immunologic Factors Phase 2, Phase 3
13 Alkylating Agents Phase 2, Phase 3
14 Antimetabolites Phase 2, Phase 3
15 Cyclosporins Phase 2, Phase 3
16 Folic Acid Antagonists Phase 2, Phase 3
17 Vitamin B9 Phase 2, Phase 3
18 Thymoglobulin Phase 2, Phase 3
19 Vitamin B Complex Phase 2, Phase 3
20 Dermatologic Agents Phase 2, Phase 3
21 Folate Phase 2, Phase 3
22 Antifungal Agents Phase 2, Phase 3
23 Calcineurin Inhibitors Phase 2, Phase 3
24 Nutrients Phase 3
25 Micronutrients Phase 3
26 Vasoconstrictor Agents Phase 3
27 Trace Elements Phase 3
28 Anti-Infective Agents Phase 3
29 Antiviral Agents Phase 3
30 interferons Phase 3
31 Interferon-gamma Phase 3
32 Antirheumatic Agents Phase 2, Phase 3
33
Adenosine Approved, Investigational Phase 2 58-61-7 60961
34
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
35
rituximab Approved Phase 2 174722-31-7 10201696
36
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
37
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
38
Tocopherol Approved, Investigational Phase 2 1406-66-2
39
Clofarabine Approved, Investigational Phase 2 123318-82-1 119182
40
Sargramostim Approved, Investigational Phase 2 123774-72-1, 83869-56-1
41
Lenograstim Approved, Investigational Phase 2 135968-09-1
42
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
43 Tocotrienol Investigational Phase 2 6829-55-6
44 Vitamins Phase 2
45 Antilymphocyte Serum Phase 2
46 Alpha-lipoic Acid Phase 2
47 Tocopherols Phase 2
48 Tocotrienols Phase 2
49 N-monoacetylcystine Phase 2
50 Thioctic Acid Phase 2

Interventional clinical trials:

(show all 19)
# 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 Risk-Adapted Allogeneic Stem Cell Transplantation For Mixed Donor Chimerism In Patients With Selected Non-Malignant Diseases Unknown status NCT01019876 Phase 2, Phase 3 Fludarabine;Cyclophosphamide;Cyclophosphamide 40;Cyclophosphamide 30
3 Phase III Randomized Study of Interferon Gamma in Children With Severe, Congenital Osteopetrosis Completed NCT00004402 Phase 3 calcitriol;interferon gamma
4 Allogeneic Hematopoietic Stem Cell Transplantation For Severe Osteopetrosis Completed NCT00775931 Phase 2, Phase 3 Campath-1H;Cyclophosphamide;Busulfan;Fludarabine monophosphate
5 Phase 2a Study of Interferon Gamma-1b for the Treatment of Autosomal Dominant Type 2 Osteopetrosis Completed NCT02584608 Phase 2 ACTIMMUNE
6 Open-label Early Phase 2 Study With a Single Arm of Interferon Gamma-1b Treatment of Osteopetrosis Completed NCT02666768 Phase 2 Interferon gamma-1b
7 Phase I/II Trial Of Hematopoietic Stem Cell Transplant (HSCT) For Children With A Genetic Disease Of Blood Cells Without An HLA-Matched Sibling Donor Completed NCT00730314 Phase 1, Phase 2
8 MT2013-31: Allogeneic Hematopoietic Cell Transplantation for Inherited Metabolic Disorders and Severe Osteopetrosis Following Conditioning With Busulfan (Therapeutic Drug Monitoring), Fludarabine +/- ATG 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 Phase I/II Study of CaspaCIDe® T Cells From an HLA-Partially Matched Family Donor After Negative Selection of TCR αβ+T Cells in Pediatric Patients Affected by Hematological Disorders Active, not recruiting NCT03301168 Phase 1, Phase 2 Rimiducid
10 Phase II Extension Study of CaspaCIDe T Cells (BPX-501) From an HLA-partially Matched Family Donor After Negative Selection of TCR αβ+T Cells in Pediatric Patients Affected by Hematological Disorders Active, not recruiting NCT02065869 Phase 2 rimiducid
11 Reduced Intensity Allogeneic Transplantation For Severe Osteopetrosis Incorporating A Second Cd34 Selected Graft Terminated NCT00638820 Phase 2 Campath, Busulfan, Clofarabine
12 A Phase II Study Using the CliniMACS® Device for CD34+ Cell Selection and T Cell Depletion for Graft-versus-Host Disease Prophylaxis in Alternative Donor Stem Cell Transplant Recipients Terminated NCT00968864 Phase 2
13 A Phase I Clinical Trial for Gene Therapy in Infantile Malignant Osteopetrosis (IMO) to Evaluate the Safety and Preliminary Efficacy of Autologous CD34+ Enriched Cells Transduced With a LV Vector Encoding the TCIRG1 Gene Recruiting NCT04525352 Phase 1
14 Effect of 12 Months Treatment With rhPTH on Calcium Balance, Bone Turnover, Bone Mineral Density, and Bone Micro-architecture in Patients With Fractures Associated With Low Bone Turnover and Sclerosing Bone Disorders Terminated NCT00145886 Phase 1 rhPTH
15 Post-Marketing Surveillance Study of Actimmune (Interferon Gamma-1b) in Patients With Severe Malignant Osteopetrosis Completed NCT00043329 Actimmune Registry
16 Clinical Assessment of Patients With High Bone Mass Due to Mutation in Low Density Lipoprotein l Receptor 5 Completed NCT01199094
17 Longitudinal Study of Neurodegenerative Disorders Recruiting NCT03333200
18 An Expanded Access Study of the Feasibility of Using the CliniMACS® Device for CD34+ Cell Selection and T Cell Depletion for Graft-versus-Host Disease Prophylaxis in Alternative Donor Stem Cell Transplant Recipients Available NCT01200017
19 Allogeneic Hematopoietic Stem Cell Transplantation for Children Affected With Malignant Osteopetrosis: A Pilot Study Terminated NCT00145587 Systemic chemotherapy and antibodies

Search NIH Clinical Center for Osteopetrosis

Inferred drug relations via UMLS 70 / NDF-RT 51 :


Interferon gamma-1b

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Osteopetrosis cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Osteopetrosis:
Hematopoietic stem cell transplantation for the treatment of genetic blood cell-related diseases
Embryonic/Adult Cultured Cells Related to Osteopetrosis:
Bone marrow-derived hematopoietic stem cells (family)
Umbilical cord blood-derived hematopoietic stem cells (family)
Sources

Genetic Tests for Osteopetrosis

About this section

Genetic tests related to Osteopetrosis:

# Genetic test Affiliating Genes
1 Osteopetrosis 29
Sources

Anatomical Context for Osteopetrosis

About this section

MalaCards organs/tissues related to Osteopetrosis:

40
Bone, Bone Marrow, Spleen, T Cells, Myeloid, Thyroid, Thymus
Sources

Publications for Osteopetrosis

About this section

Articles related to Osteopetrosis:

(show top 50) (show all 2485)
# Title Authors PMID Year
1
Albers-Schönberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene. 54 61 6
11741829 2001
2
TCIRG1 Transgenic Rescue of Osteoclast Function Using Induced Pluripotent Stem Cells Derived from Patients with Infantile Malignant Autosomal Recessive Osteopetrosis. 6 61
31567691 2019
3
TCIRG1 and SNX10 gene mutations in the patients with autosomal recessive osteopetrosis. 61 6
30898715 2019
4
CLCN7 and TCIRG1 mutations in a single family: Evidence for digenic inheritance of osteopetrosis. 6 61
30431110 2019
5
MiT family translocation renal cell carcinoma after malignant infantile osteopetrosis in childhood: a case report. 61 6
31949762 2018
6
Identification of TCIRG1 and CLCN7 gene mutations in a patient with autosomal recessive osteopetrosis. 6 61
24535484 2014
7
TCIRG1-dependent recessive osteopetrosis: mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA. 6 61
15300850 2004
8
Mapping of autosomal dominant osteopetrosis type II (Albers-Schönberg disease) to chromosome 16p13.3. 6 61
11468688 2001
9
The mutational spectrum of human malignant autosomal recessive osteopetrosis. 61 6
11532986 2001
10
Mutations in the a3 subunit of the vacuolar H(+)-ATPase cause infantile malignant osteopetrosis. 61 6
10942435 2000
11
Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis. 6 61
10888887 2000
12
Elevated serum levels of creatine kinase BB in autosomal dominant osteopetrosis type II--a family study. 61 6
1516225 1992
13
The resorptive apparatus of osteoclasts supports lysosomotropism and increases potency of basic versus non-basic inhibitors of cathepsin K. 61 54
20097319 2010
14
Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations. 61 54
19953639 2010
15
Characteristics of ClC7 Cl- channels and their inhibition in mutant (G215R) associated with autosomal dominant osteopetrosis type II in native osteoclasts and hClcn7 gene-expressing cells. 61 54
19543743 2009
16
Carbonic anhydrase II deficiency a novel mutation. 54 61
19556665 2009
17
NF-kappaB functions in osteoclasts. 61 54
18992710 2009
18
CLCN7 polymorphisms and bone mineral density in healthy premenopausal white women and in white men. 54 61
18755304 2008
19
Rare gross deletion in T-cell immune regulator-1 gene in Iranian family with infantile malignant osteopetrosis. 61 54
18946580 2008
20
Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations. 54 61
18606301 2008
21
Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL. 54 61
17632511 2007
22
The retinoblastoma protein is an essential mediator of osteogenesis that links the p204 protein to the Cbfa1 transcription factor thereby increasing its activity. 54 61
17439944 2007
23
Autosomal dominant osteopetrosis: clinical severity and natural history of 94 subjects with a chloride channel 7 gene mutation. 61 54
17164308 2007
24
Novel pycnodysostosis mouse model uncovers cathepsin K function as a potential regulator of osteoclast apoptosis and senescence. 61 54
17210673 2007
25
Establishment and characterization of new osteoclast progenitor cell lines derived from osteopetrotic and wild type mice. 54 61
16503212 2006
26
Carbonic anhydrase II in the developing and adult human brain. 61 54
16825953 2006
27
Interleukin-7 partially rescues B-lymphopoiesis in osteopetrotic oc/oc mice through the engagement of B220+ CD11b+ progenitors. 61 54
16797412 2006
28
Clinical and molecular findings in a family with the carbonic anhydrase II deficiency syndrome. 61 54
16382316 2006
29
Polymorphisms in the CLCN7 gene modulate bone density in postmenopausal women and in patients with autosomal dominant osteopetrosis type II. 61 54
16368748 2006
30
Limited rescue of osteoclast-poor osteopetrosis after successful engraftment by cord blood from an unrelated donor. 61 54
16294279 2005
31
Polymorphisms of the CLCN7 gene are associated with BMD in women. 54 61
16234969 2005
32
Marble brain disease in two Saudi Arabian siblings. 54 61
16156988 2005
33
[Osteopetrosis with carbonic anhydrase II deficiency: report of 24 cases]. 54 61
16220698 2005
34
[Osteoprotegerin--a neutralizing receptor, protector of bones and a potential antiresorptive agent]. 61 54
16296579 2005
35
Intrafamilial phenotypic variability of osteopetrosis due to chloride channel 7 (CLCN7) mutations. 61 54
15633192 2005
36
Loss of the chloride channel ClC-7 leads to lysosomal storage disease and neurodegeneration. 54 61
15706348 2005
37
Carbonic anhydrase II deficiency: a rare autosomal recessive disorder of osteopetrosis, renal tubular acidosis, and cerebral calcification. 61 54
15701991 2005
38
Immunohistochemical evaluation of microphthalmia-associated transcription factor expression in giant cell lesions. 54 61
15205688 2004
39
Carbonic anhydrase II deficiency syndrome (osteopetrosis with renal tubular acidosis and brain calcification): novel mutations in CA2 identified by direct sequencing expand the opportunity for genotype-phenotype correlation. 54 61
15300855 2004
40
Severe malignant osteopetrosis caused by a GL gene mutation. 61 54
15177004 2004
41
Characterization of osteoclasts from patients harboring a G215R mutation in ClC-7 causing autosomal dominant osteopetrosis type II. 54 61
15111300 2004
42
Mitf and Tfe3: members of a b-HLH-ZIP transcription factor family essential for osteoclast development and function. 54 61
15050900 2004
43
Src kinase activity is essential for osteoclast function. 61 54
14739300 2004
44
Type II benign osteopetrosis (Albers-Schönberg disease) caused by a novel mutation in CLCN7 presenting with unusual clinical manifestations. 61 54
14564431 2004
45
Role for osteoprotegerin in rheumatoid inflammation. 61 54
14769514 2004
46
The a3 isoform of the 100-kDa V-ATPase subunit is highly but differentially expressed in large (>or=10 nuclei) and small (<or= nuclei) osteoclasts. 54 61
14504271 2003
47
Grey-lethal mutation induces severe malignant autosomal recessive osteopetrosis in mouse and human. 54 61
12627228 2003
48
Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density. 54 61
12579474 2003
49
A phenocopy of CAII deficiency: a novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis. 61 54
12566520 2003
50
Novel mutations in the TCIRG1 gene encoding the a3 subunit of the vacuolar proton pump in patients affected by infantile malignant osteopetrosis. 61 54
12552563 2003
Sources

Variations for Osteopetrosis

About this section

ClinVar genetic disease variations for Osteopetrosis:

6 (show top 50) (show all 197)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CLCN7 NM_001287.6(CLCN7):c.2299C>T (p.Arg767Trp) SNV Pathogenic 6863 rs121434435 GRCh37: 16:1497039-1497039
GRCh38: 16:1447038-1447038
2 CLCN7 CLCN7, 2-BP DEL, 2423AG Deletion Pathogenic 6864 GRCh37:
GRCh38:
3 CLCN7 NM_001287.6(CLCN7):c.857G>A (p.Arg286Gln) SNV Pathogenic 438670 rs760956030 GRCh37: 16:1506173-1506173
GRCh38: 16:1456172-1456172
4 CLCN7 NM_001287.6(CLCN7):c.952T>C (p.Phe318Leu) SNV Pathogenic 1012215 GRCh37: 16:1505761-1505761
GRCh38: 16:1455760-1455760
5 TCIRG1 NM_006019.4(TCIRG1):c.2008C>T (p.Arg670Ter) SNV Pathogenic 551284 rs371263807 GRCh37: 11:67817250-67817250
GRCh38: 11:68049783-68049783
6 TCIRG1 NM_006019.4(TCIRG1):c.1674-1G>A SNV Pathogenic 189246 rs139617644 GRCh37: 11:67816547-67816547
GRCh38: 11:68049080-68049080
7 CLCN7 NM_001287.6(CLCN7):c.2107C>T (p.Gln703Ter) SNV Pathogenic 1033822 GRCh37: 16:1497536-1497536
GRCh38: 16:1447535-1447535
8 CLCN7 NM_001287.6(CLCN7):c.296A>G (p.Tyr99Cys) SNV Likely pathogenic 56890 rs387907576 GRCh37: 16:1511461-1511461
GRCh38: 16:1461460-1461460
9 CLCN7 NM_001287.6(CLCN7):c.1841T>G (p.Leu614Arg) SNV Likely pathogenic 867226 GRCh37: 16:1498724-1498724
GRCh38: 16:1448723-1448723
10 TCIRG1 NM_006019.4(TCIRG1):c.1024G>T (p.Glu342Ter) SNV Likely pathogenic 555504 rs1159666762 GRCh37: 11:67812428-67812428
GRCh38: 11:68044961-68044961
11 TCIRG1 NM_006019.4(TCIRG1):c.1549G>A (p.Asp517Asn) SNV Likely pathogenic 975009 GRCh37: 11:67815434-67815434
GRCh38: 11:68047967-68047967
12 CLCN7 NM_001287.6(CLCN7):c.2073+4C>T SNV Uncertain significance 626086 rs768190489 GRCh37: 16:1497652-1497652
GRCh38: 16:1447651-1447651
13 TNFRSF11A NM_003839.4(TNFRSF11A):c.718A>G (p.Lys240Glu) SNV Uncertain significance 287370 rs148185533 GRCh37: 18:60029014-60029014
GRCh38: 18:62361781-62361781
14 CLCN7 NM_001287.6(CLCN7):c.697G>A (p.Gly233Ser) SNV Uncertain significance 884380 GRCh37: 16:1507736-1507736
GRCh38: 16:1457735-1457735
15 CLCN7 NM_001287.6(CLCN7):c.821A>G (p.Lys274Arg) SNV Uncertain significance 887537 GRCh37: 16:1507256-1507256
GRCh38: 16:1457255-1457255
16 CLCN7 NM_001287.6(CLCN7):c.739-18G>A SNV Uncertain significance 1029299 GRCh37: 16:1507356-1507356
GRCh38: 16:1457355-1457355
17 CLCN7 NM_001287.6(CLCN7):c.1884-6C>T SNV Uncertain significance 888541 GRCh37: 16:1498491-1498491
GRCh38: 16:1448490-1448490
18 CLCN7 NM_001287.6(CLCN7):c.1884-10C>A SNV Uncertain significance 718592 rs753459440 GRCh37: 16:1498495-1498495
GRCh38: 16:1448494-1448494
19 CLCN7 NM_001287.6(CLCN7):c.*510G>C SNV Uncertain significance 888485 GRCh37: 16:1496122-1496122
GRCh38: 16:1446121-1446121
20 CLCN7 NM_001287.6(CLCN7):c.2021G>T (p.Arg674Leu) SNV Uncertain significance 888539 GRCh37: 16:1497708-1497708
GRCh38: 16:1447707-1447707
21 CLCN7 NM_001287.6(CLCN7):c.2014-5T>C SNV Uncertain significance 888540 GRCh37: 16:1497720-1497720
GRCh38: 16:1447719-1447719
22 CLCN7 NM_001287.6(CLCN7):c.1986C>T (p.Pro662=) SNV Uncertain significance 740731 rs374264233 GRCh37: 16:1498383-1498383
GRCh38: 16:1448382-1448382
23 CLCN7 NM_001287.6(CLCN7):c.*24C>T SNV Uncertain significance 886291 GRCh37: 16:1496608-1496608
GRCh38: 16:1446607-1446607
24 CLCN7 NM_001287.6(CLCN7):c.*9C>T SNV Uncertain significance 886292 GRCh37: 16:1496623-1496623
GRCh38: 16:1446622-1446622
25 CLCN7 NM_001287.6(CLCN7):c.2415G>A (p.Thr805=) SNV Uncertain significance 794074 rs202080270 GRCh37: 16:1496635-1496635
GRCh38: 16:1446634-1446634
26 CLCN7 NM_001287.6(CLCN7):c.1524G>A (p.Thr508=) SNV Uncertain significance 886348 GRCh37: 16:1500591-1500591
GRCh38: 16:1450590-1450590
27 CLCN7 NM_001287.6(CLCN7):c.1448-15C>T SNV Uncertain significance 886349 GRCh37: 16:1500682-1500682
GRCh38: 16:1450681-1450681
28 CLCN7 NM_001287.6(CLCN7):c.1332C>T (p.Gly444=) SNV Uncertain significance 886350 GRCh37: 16:1502777-1502777
GRCh38: 16:1452776-1452776
29 CLCN7 NM_001287.6(CLCN7):c.1307G>A (p.Arg436Gln) SNV Uncertain significance 886351 GRCh37: 16:1502802-1502802
GRCh38: 16:1452801-1452801
30 CLCN7 NM_001287.6(CLCN7):c.558C>T (p.Phe186=) SNV Uncertain significance 502639 rs147280414 GRCh37: 16:1510455-1510455
GRCh38: 16:1460454-1460454
31 CLCN7 NM_001287.6(CLCN7):c.521T>C (p.Phe174Ser) SNV Uncertain significance 886406 GRCh37: 16:1510492-1510492
GRCh38: 16:1460491-1460491
32 CLCN7 NM_001287.6(CLCN7):c.411G>A (p.Thr137=) SNV Uncertain significance 727377 rs139649449 GRCh37: 16:1510890-1510890
GRCh38: 16:1460889-1460889
33 CLCN7 NM_001287.6(CLCN7):c.*1623G>T SNV Uncertain significance 887168 GRCh37: 16:1495009-1495009
GRCh38: 16:1445008-1445008
34 CLCN7 NM_001287.6(CLCN7):c.*1607G>T SNV Uncertain significance 887169 GRCh37: 16:1495025-1495025
GRCh38: 16:1445024-1445024
35 CLCN7 NM_001287.6(CLCN7):c.*1573G>A SNV Uncertain significance 887170 GRCh37: 16:1495059-1495059
GRCh38: 16:1445058-1445058
36 OSTM1 NM_014028.4(OSTM1):c.*2351del Deletion Uncertain significance 354942 rs886060962 GRCh37: 6:108363638-108363638
GRCh38: 6:108042434-108042434
37 CLCN7 NM_001287.6(CLCN7):c.*1143_*1144dup Duplication Uncertain significance 317921 rs146690487 GRCh37: 16:1495487-1495488
GRCh38: 16:1445486-1445487
38 CLCN7 NM_001287.6(CLCN7):c.*241G>A SNV Uncertain significance 317938 rs559965660 GRCh37: 16:1496391-1496391
GRCh38: 16:1446390-1446390
39 TNFRSF11A NM_003839.4(TNFRSF11A):c.*1057A>T SNV Uncertain significance 327758 rs886054099 GRCh37: 18:60053324-60053324
GRCh38: 18:62386091-62386091
40 CLCN7 NM_001287.6(CLCN7):c.*57C>T SNV Uncertain significance 317941 rs886051697 GRCh37: 16:1496575-1496575
GRCh38: 16:1446574-1446574
41 CLCN7 NM_001287.6(CLCN7):c.2214C>T (p.Ser738=) SNV Uncertain significance 317943 rs531105528 GRCh37: 16:1497429-1497429
GRCh38: 16:1447428-1447428
42 TNFRSF11A NM_001270949.1(TNFRSF11A):c.-49G>A SNV Uncertain significance 327723 rs886054081 GRCh37: 18:59992537-59992537
GRCh38: 18:62325304-62325304
43 CLCN7 NM_001287.6(CLCN7):c.777C>T (p.Ala259=) SNV Uncertain significance 317955 rs746128123 GRCh37: 16:1507300-1507300
GRCh38: 16:1457299-1457299
44 CLCN7 NM_001287.6(CLCN7):c.95G>C (p.Gly32Ala) SNV Uncertain significance 317969 rs537057233 GRCh37: 16:1524881-1524881
GRCh38: 16:1474880-1474880
45 CLCN7 NM_001287.6(CLCN7):c.*1497dup Duplication Uncertain significance 317907 rs373942084 GRCh37: 16:1495134-1495135
GRCh38: 16:1445133-1445134
46 CLCN7 NM_001287.6(CLCN7):c.1272G>A (p.Thr424=) SNV Uncertain significance 317949 rs145286036 GRCh37: 16:1502837-1502837
GRCh38: 16:1452836-1452836
47 CLCN7 NM_001287.6(CLCN7):c.*1421G>C SNV Uncertain significance 317910 rs886051689 GRCh37: 16:1495211-1495211
GRCh38: 16:1445210-1445210
48 CLCN7 NM_001287.6(CLCN7):c.351+12G>A SNV Uncertain significance 317962 rs371035809 GRCh37: 16:1511394-1511394
GRCh38: 16:1461393-1461393
49 CLCN7 NM_001287.6(CLCN7):c.*717C>A SNV Uncertain significance 317927 rs886051693 GRCh37: 16:1495915-1495915
GRCh38: 16:1445914-1445914
50 CLCN7 NM_001287.6(CLCN7):c.*592G>C SNV Uncertain significance 317930 rs184831951 GRCh37: 16:1496040-1496040
GRCh38: 16:1446039-1446039
Sources

Expression for Osteopetrosis

About this section
Search GEO for disease gene expression data for Osteopetrosis.
Sources

Pathways for Osteopetrosis

About this section

Pathways related to Osteopetrosis according to KEGG:

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

Pathways related to Osteopetrosis according to GeneCards Suite gene sharing:

(show all 24)
# Super pathways Score Top Affiliating Genes
1
Innate Immune System 65
Show member pathways
 13.9 TRAF6 TNFSF11 TNFRSF11B TNFRSF11A TCIRG1 SRC
2
Akt Signaling 63
Show member pathways
 13.28 TRAF6 TNFSF11 TNFRSF11A SRC IKBKG CSF1R
3
Cytokine Signaling in Immune system 65
Show member pathways
 13.2 TRAF6 TNFSF11 TNFRSF11B TNFRSF11A SRC IKBKG
4
TNFR1 Pathway 63
Show member pathways
 12.95 TRAF6 TNFSF11 TNFRSF11B TNFRSF11A SRC IKBKG
5
Pathways in cancer 36
12.71 TRAF6 MITF LRP5 IKBKG CSF1R
6
TRAF Pathway 63
Show member pathways
 12.41 TRAF6 TNFSF11 TNFRSF11B TNFRSF11A SRC IKBKG
7
Prolactin Signaling Pathway 1 36
Show member pathways
 12.36 TNFSF11 TNFRSF11A SRC IKBKG
8
Insulin receptor recycling 65
Show member pathways
 12.36 TCIRG1 SRC IKBKG CSK CA2
9
RANK Signaling in Osteoclasts 63
Show member pathways
 12.01 TRAF6 TNFSF11 TNFRSF11B TNFRSF11A SRC MITF
10
TCR signaling in naive CD4+ T cells 1
Show member pathways
 11.83 TRAF6 IKBKG CSK
11
Parathyroid hormone synthesis, secretion and action 36
11.81 TNFSF11 LRP5 BGLAP
12
NF-kappa B signaling pathway 36
11.81 TRAF6 TNFSF11 TNFRSF11A IKBKG
13
Rheumatoid arthritis 36
11.7 TNFSF11 TNFRSF11A TCIRG1 CTSK CSF1 ACP5
14
TNF Superfamily Pathway: Human Ligand-Receptor Interactions and their Associated Functions 64
Show member pathways
 11.65 TNFSF11 TNFRSF11B TNFRSF11A
15
Apoptosis and survival Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway 23
Show member pathways
 11.64 TRAF6 TNFSF11 TNFRSF11A IKBKG
16
Osteoclast differentiation 36
11.43 TRAF6 TNFSF11 TNFRSF11B TNFRSF11A MITF IKBKG
17
Differentiation Pathway 1
11.4 TNFSF11 CSF1R CSF1
18
Integrins in angiogenesis 1
11.38 SRC CSF1R CSF1
19
Signaling events mediated by PTP1B 1
11.37 SRC CSK CSF1R CSF1
20
Transcription_Role of VDR in regulation of genes involved in osteoporosis 23
11.37 TNFSF11 TNFRSF11B TNFRSF11A CA2 BGLAP
21
Signaling events mediated by TCPTP 1
Show member pathways
 11.32 SRC CSF1R CSF1
22
Osteoblast Signaling 1
10.78 TNFSF11 TNFRSF11B BGLAP
23
Osteoclast Signaling 1
10.76 TNFSF11 TNFRSF11B TNFRSF11A CTSK ACP5
24
MAPK and NFkB Signalling Pathways Inhibited by Yersinia YopJ 1
10.66 TRAF6 IKBKG
Sources

GO Terms for Osteopetrosis

About this section

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

# Name GO ID Score Top Affiliating Genes
1 endosome membrane GO:0010008 9.46 TRAF6 TCIRG1 SNX10 PLEKHM1
2 lysosome GO:0005764 9.17 TCIRG1 SRC PLEKHM1 OSTM1 CTSK CLCN7
3 CSF1-CSF1R complex GO:1990682 8.96 CSF1R CSF1

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

(show all 40)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 10.05 TNFRSF11A TCIRG1 LRP5 CSF1R CSF1
2 cytokine-mediated signaling pathway GO:0019221 9.97 TRAF6 TNFSF11 CSF1R CSF1
3 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.89 TRAF6 TNFSF11 TNFRSF11A IKBKG
4 stimulatory C-type lectin receptor signaling pathway GO:0002223 9.86 TRAF6 SRC IKBKG
5 tumor necrosis factor-mediated signaling pathway GO:0033209 9.85 TRAF6 TNFSF11 TNFRSF11B TNFRSF11A
6 positive regulation of DNA-binding transcription factor activity GO:0051091 9.84 TRAF6 TNFSF11 TNFRSF11A LRP5
7 cellular response to cytokine stimulus GO:0071345 9.81 TRAF6 TCIRG1 CSF1R
8 response to estrogen GO:0043627 9.8 TNFRSF11B CA2 BGLAP
9 positive regulation of MAP kinase activity GO:0043406 9.8 TNFSF11 SRC CSK
10 bone development GO:0060348 9.79 TNFSF11 LRP5 BGLAP
11 response to interleukin-1 GO:0070555 9.74 TRAF6 TNFRSF11A SRC
12 odontogenesis GO:0042476 9.73 TCIRG1 SRC BGLAP
13 positive regulation of macrophage chemotaxis GO:0010759 9.68 CSF1R CSF1
14 osteoblast development GO:0002076 9.68 LRP5 BGLAP
15 mammary gland alveolus development GO:0060749 9.67 TNFSF11 TNFRSF11A
16 negative regulation of bone resorption GO:0045779 9.67 TNFRSF11B CSK
17 regulation of osteoclast differentiation GO:0045670 9.67 TNFSF11 MITF BGLAP
18 positive regulation of osteoclast differentiation GO:0045672 9.67 TRAF6 TNFSF11 CSF1 CA2
19 response to inorganic substance GO:0010035 9.66 TNFRSF11B BGLAP
20 ruffle organization GO:0031529 9.66 TCIRG1 CSF1R
21 cellular response to fluid shear stress GO:0071498 9.65 SRC CA2
22 response to pH GO:0009268 9.65 CLCN7 CA2
23 branching involved in mammary gland duct morphogenesis GO:0060444 9.65 SRC LRP5 CSF1
24 positive regulation of intracellular signal transduction GO:1902533 9.64 TNFSF11 SRC
25 microglial cell proliferation GO:0061518 9.64 CSF1R CSF1
26 regulation of bone resorption GO:0045124 9.63 SRC CSF1R BGLAP
27 ossification GO:0001503 9.63 TRAF6 TNFSF11 TNFRSF11A TCIRG1 BGLAP ACP5
28 positive regulation of bone resorption GO:0045780 9.62 TNFSF11 TNFRSF11A PLEKHM1 CA2
29 mammary gland duct morphogenesis GO:0060603 9.61 LRP5 CSF1R
30 establishment of vesicle localization GO:0051650 9.61 TCIRG1 IKBKG
31 tooth eruption GO:0044691 9.61 TNFSF11 TCIRG1 SNX10
32 osteoclast development GO:0036035 9.6 TNFSF11 SRC
33 TNFSF11-mediated signaling pathway GO:0071847 9.58 TNFSF11 TNFRSF11A
34 macrophage colony-stimulating factor signaling pathway GO:0038145 9.58 CSF1R CSF1
35 osteoclast proliferation GO:0002158 9.58 TNFSF11 TCIRG1 CSF1
36 bone remodeling GO:0046849 9.56 TRAF6 SNX10 MITF LRP5
37 positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling GO:0071848 9.52 TNFSF11 TNFRSF11A
38 positive regulation of fever generation by positive regulation of prostaglandin secretion GO:0071812 9.51 TNFSF11 TNFRSF11A
39 bone resorption GO:0045453 9.5 TRAF6 TNFSF11 TCIRG1 SRC SNX10 CTSK
40 osteoclast differentiation GO:0030316 9.28 TRAF6 TNFSF11 TNFRSF11A TCIRG1 SNX10 OSTM1

Molecular functions related to Osteopetrosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ATPase binding GO:0051117 8.8 TCIRG1 SRC SNX10
Sources

Sources for Osteopetrosis

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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