OPTA2
MCID: OST131
MIFTS: 58

Osteopetrosis, Autosomal Dominant 2 (OPTA2)

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Aliases & Classifications for Osteopetrosis, Autosomal Dominant 2

MalaCards integrated aliases for Osteopetrosis, Autosomal Dominant 2:

Name: Osteopetrosis, Autosomal Dominant 2 57 73 12
Osteopetrosis Autosomal Dominant Type 2 11 19 58 71
Autosomal Dominant Osteopetrosis 2 11 28 5 14
Opta2 57 11 19 73
Autosomal Dominant Albers-Schonberg Disease 11 73
Osteopetrosis, Autosomal Dominant, Type Ii 57 53
Albers-Schonberg Osteopetrosis 11 58
Osteopetrosis 43 71
Albers-Schonberg Disease, Autosomal Dominant 57
Osteopetrosis, Autosomal Dominant, Type 2 38
Autosomal Dominant Osteopetrosis Type Ii 11
Autosomal Dominant Osteopetrosis Type 2 19
Osteosclerosis Fragilis Generalisata 57
Marble Disease Autosomal Dominant 73
Marble Bones, Autosomal Dominant 57
Albers-Schönberg Osteopetrosis 19

Characteristics:


Inheritance:

Osteopetrosis, Autosomal Dominant 2: Autosomal dominant 57
Albers-Schonberg Osteopetrosis: Autosomal dominant 58

Prevelance:

Albers-Schonberg Osteopetrosis: 1-9/100000 (Denmark, Europe) 1-9/1000000 (Brazil) 58

Age Of Onset:

Albers-Schonberg Osteopetrosis: Childhood 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
onset in childhood
genetic heterogeneity (see )
progressive sclerosis with age
20-40% patients are asymptomatic
see recessive form optb4


Classifications:

Orphanet: 58  
Rare eye diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Osteopetrosis, Autosomal Dominant 2

GARD: 19 Osteopetrosis refers to a group of rare, inherited skeletal disorders characterized by increased bone density and abnormal bone growth. The symptoms, severity, and age of onset can vary greatly. The features may include an incidental finding of osteopetrosis on X-ray, fractures, short stature, compressive neuropathies (pressure on the nerves), hypocalcemia with attendant tetanic seizures, pancytopenia, and bone marrow failure. In rare cases, there may be neurological impairment or involvement of other body systems. Osteopetrosis may be caused by genetic changes in at least 10 genes. Inheritance can be autosomal recessive, autosomal dominant, or X-linked recessive with the most severe forms being autosomal recessive.

MalaCards based summary: Osteopetrosis, Autosomal Dominant 2, also known as osteopetrosis autosomal dominant type 2, is related to osteopetrosis, autosomal recessive 7 and osteopetrosis, autosomal recessive 1. An important gene associated with Osteopetrosis, Autosomal Dominant 2 is CLCN7 (Chloride Voltage-Gated Channel 7), and among its related pathways/superpathways are Vitamin D receptor pathway and Clock-controlled autophagy in bone metabolism. The drugs Busulfan and Alemtuzumab have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and eye, and related phenotypes are macrocephaly and frontal bossing

OMIM®: 57 Autosomal dominant osteopetrosis-2 is characterized by segmentary osteosclerosis, predominantly at the vertebral endplates ('rugger-jersey spine'), iliac wings ('bone within bone' sign), and skull base. Clinical manifestations include cranial nerve palsies, mandibular osteomyelitis, osteoarthritis of the hip, and nontraumatic fractures, particularly of the long bones (Cleiren et al., 2001). OPTA2 accounts for 70% of cases of autosomal dominant osteopetrosis (Del Fattore et al., 2008). For a discussion of genetic heterogeneity of autosomal dominant osteopetrosis, see OPTA1 (607634). (166600) (Updated 08-Dec-2022)

UniProtKB/Swiss-Prot: 73 A rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. OPTA2 is the most common form of osteopetrosis, occurring in adolescence or adulthood. It is characterized by sclerosis, predominantly involving the spine, the pelvis and the skull base.

Disease Ontology: 11 An osteopetrosis characterized by autosomal dominant inheritance of sclerosis predominantly involving the spine, the pelvis, and the skull base, bone fragility and dental abscesses that has material basis in mutation in the CLCN7 gene on chromosome 16p13.

Orphanet: 58 A sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates).

Related Diseases for Osteopetrosis, Autosomal Dominant 2

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, Autosomal Dominant 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 454)
# Related Disease Score Top Affiliating Genes
1 osteopetrosis, autosomal recessive 7 33.0 TCIRG1 CLCN7
2 osteopetrosis, autosomal recessive 1 32.9 TCIRG1 CLCN7
3 osteopetrosis, autosomal recessive 6 32.8 TNFSF11 TCIRG1 CLCN7
4 osteopetrosis, autosomal recessive 8 32.6 TCIRG1 CLCN7
5 osteopetrosis, autosomal dominant 1 32.4 TRAPPC10 LRP5 CLCN7
6 osteopetrosis, autosomal recessive 5 32.4 TRAPPC10 TCIRG1 OSTM1 CLCN7
7 osteopetrosis, autosomal recessive 3 32.4 TCIRG1 OSTM1 CLCN7 CA2
8 autosomal recessive malignant osteopetrosis 32.3 TNFSF11 TCIRG1 CLCN7
9 osteopetrosis, autosomal recessive 2 31.5 TNFSF11 TCIRG1 OSTM1 CTSK CLCN7 CA2
10 chronic recurrent multifocal osteomyelitis 30.6 TNFSF11 BGLAP
11 osteopetrosis, autosomal recessive 4 30.6 TCIRG1 OSTM1 CLCN7
12 osteonecrosis 30.4 LRP5 BGLAP ACP5
13 osteomyelitis 30.3 TNFSF11 CTSK ACP5
14 hyperparathyroidism 30.2 TNFSF11 BGLAP ACP5
15 periodontitis 30.0 TNFSF11 CTSK BGLAP ACP5
16 osteoarthritis 29.9 TNFSF11 CTSK BGLAP
17 distal renal tubular acidosis 29.9 TCIRG1 CA2
18 cleidocranial dysplasia 1 29.8 TNFSF11 CTSK BGLAP
19 mammary paget's disease 29.8 TNFSF11 CTSK BGLAP ACP5
20 paget's disease of bone 29.7 TNFSF11 CTSK BGLAP ACP5
21 camurati-engelmann disease 29.7 LRP5 BGLAP ACP5
22 craniometaphyseal dysplasia, autosomal dominant 29.7 TNFSF11 TCIRG1 OSTM1 CLCN7 BGLAP ACP5
23 scoliosis 29.7 TNFSF11 CTSK BGLAP ACP5
24 primary hyperparathyroidism 29.6 TNFSF11 BGLAP ACP5
25 sclerosteosis 29.5 TNFSF11 LRP5 CTSK BGLAP ACP5
26 familial expansile osteolysis 29.5 TNFSF11 CTSK ACP5
27 bone giant cell tumor 29.5 TNFSF11 CTSK ACP5
28 osteoporosis-pseudoglioma syndrome 29.4 TNFSF11 LRP5
29 endosteal hyperostosis, autosomal dominant 29.4 TNFSF11 TCIRG1 OSTM1 LRP5 CTSK CLCN7
30 bone disease 29.4 TNFSF11 OSTM1 LRP5 CTSK CLCN7 BGLAP
31 pycnodysostosis 29.3 TNFSF11 TCIRG1 OSTM1 CTSK CLCN7 BGLAP
32 brittle bone disorder 29.2 TNFSF11 LRP5 CTSK CLCN7 BGLAP ACP5
33 osteopetrosis 29.2 TNFSF11 TCIRG1 OSTM1 LRP5 CTSK CLCN7
34 van buchem disease 29.2 TNFSF11 LRP5 CTSK BGLAP
35 osteochondrodysplasia 29.1 TNFSF11 TCIRG1 OSTM1 LRP5 CTSK CLCN7
36 kidney disease 28.7 TNFSF11 LRP5 CA2 BGLAP ACP5
37 osteoporosis 28.4 TNFSF11 TCIRG1 LRP5 CTSK CLCN7 CA2
38 osteopetrosis, autosomal dominant 3 11.6
39 ectodermal dysplasia and immunodeficiency 1 11.5
40 coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness 11.4
41 osteopetrosis and infantile neuroaxonal dystrophy 11.3
42 infantile osteopetrosis with neuroaxonal dysplasia 11.2
43 csf1r-related brain malformation and osteopetrosis 11.1
44 raine syndrome 10.9
45 renal tubular acidosis 10.5
46 rickets 10.4
47 aplastic anemia 10.4
48 pancytopenia 10.4
49 deficiency anemia 10.4
50 graft-versus-host disease 10.3

Graphical network of the top 20 diseases related to Osteopetrosis, Autosomal Dominant 2:



Diseases related to Osteopetrosis, Autosomal Dominant 2

Symptoms & Phenotypes for Osteopetrosis, Autosomal Dominant 2

Human phenotypes related to Osteopetrosis, Autosomal Dominant 2:

58 30 (show all 41)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000256
2 frontal bossing 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002007
3 facial palsy 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0010628
4 avascular necrosis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0010885
5 recurrent fractures 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002757
6 joint dislocation 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001373
7 osteoarthritis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002758
8 short distal phalanx of finger 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0009882
9 bone pain 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002653
10 generalized osteosclerosis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0005789
11 mandibular osteomyelitis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0007626
12 abnormal metacarpal morphology 30 Hallmark (90%) HP:0005916
13 abnormal epiphysis morphology 30 Hallmark (90%) HP:0005930
14 abnormal metaphysis morphology 30 Hallmark (90%) HP:0000944
15 optic atrophy 58 30 Frequent (33%) Frequent (79-30%)
HP:0000648
16 short stature 58 30 Frequent (33%) Frequent (79-30%)
HP:0004322
17 anemia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001903
18 genu valgum 58 30 Frequent (33%) Frequent (79-30%)
HP:0002857
19 hydrocephalus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000238
20 hearing impairment 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000365
21 carious teeth 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000670
22 blindness 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000618
23 hypocalcemia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002901
24 abnormal leukocyte morphology 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001881
25 bone marrow hypocellularity 30 Occasional (7.5%) HP:0005528
26 arthritis 58 Very frequent (99-80%)
27 abnormality of the dentition 58 Frequent (79-30%)
28 visual impairment 58 Frequent (79-30%)
29 cranial nerve paralysis 58 Very frequent (99-80%)
30 abnormality of the metaphysis 58 Very frequent (99-80%)
31 abnormality of epiphysis morphology 58 Very frequent (99-80%)
32 osteomyelitis 58 Very frequent (99-80%)
33 abnormality of the metacarpal bones 58 Very frequent (99-80%)
34 fractures of the long bones 30 HP:0003084
35 visual loss 30 HP:0000572
36 osteopetrosis 30 HP:0011002
37 hip osteoarthritis 30 HP:0008843
38 facial paralysis 30 HP:0007209
39 abnormality of the vertebral endplates 30 HP:0005106
40 elevated serum acid phosphatase 30 HP:0003148
41 abnormal pelvic girdle bone morphology 30 HP:0002644

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Skeletal Skull:
mandibular osteomyelitis
pronounced skull base sclerosis

Laboratory Abnormalities:
elevated serum acid phosphatase

Head And Neck Eyes:
vision loss, severe, beginning in childhood (12 of 62 patients)

Skeletal Spine:
'rugger-jersey' spine (vertebral endplate thickening)

Hematology:
bone marrow failure (in some patients)

Skeletal Pelvis:
hip osteoarthritis
endobones (bone within bone)

Head And Neck Face:
facial nerve palsy

Skeletal:
osteosclerosis, diffuse symmetrical
increased long bone fracture rate (75% of patients)
multiple fractures

Neurologic Peripheral Nervous System:
facial palsy due to cranial nerve vii compression

Clinical features from OMIM®:

166600 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Osteopetrosis, Autosomal Dominant 2:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.11 BGLAP CA2 CLCN7 CTSK LRP5 OSTM1
2 immune system MP:0005387 10 ACP5 BGLAP CA2 CLCN7 CTSK ITGB5
3 limbs/digits/tail MP:0005371 9.95 ACP5 CLCN7 CTSK LRP5 OSTM1 TCIRG1
4 craniofacial MP:0005382 9.87 CLCN7 CTSK LRP5 OSTM1 TCIRG1 TNFSF11
5 skeleton MP:0005390 9.85 ACP5 BGLAP CA2 CLCN7 CTSK LRP5
6 vision/eye MP:0005391 9.5 CLCN7 ITGB5 LRP5 OSTM1 TNFSF11 TRAPPC10
7 hematopoietic system MP:0005397 9.36 ACP5 BGLAP CLCN7 CTSK ITGB5 LRP5

Drugs & Therapeutics for Osteopetrosis, Autosomal Dominant 2

Drugs for Osteopetrosis, Autosomal Dominant 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 59)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
2
Alemtuzumab Approved, Investigational Phase 2, Phase 3 216503-57-0
3
Fludarabine Approved Phase 2, Phase 3 75607-67-9, 21679-14-1 30751 657237
4
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
5
Methotrexate Approved Phase 2, Phase 3 1959-05-2, 59-05-2 4112 126941
6
Miconazole Approved, Investigational, Vet_approved Phase 2, Phase 3 22916-47-8 4189
7
Clotrimazole Approved, Vet_approved Phase 2, Phase 3 23593-75-1 2812
8
Folic acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 59-30-3 6037
9
Calcitriol Approved, Nutraceutical Phase 3 32222-06-3 5280453
10 Immunologic Factors Phase 2, Phase 3
11 Cyclosporins Phase 2, Phase 3
12 Folic Acid Antagonists Phase 2, Phase 3
13 Folate Phase 2, Phase 3
14 Vitamin B9 Phase 2, Phase 3
15 Calcineurin Inhibitors Phase 2, Phase 3
16 Vitamin B Complex Phase 2, Phase 3
17 Antifungal Agents Phase 2, Phase 3
18 Thymoglobulin Phase 2, Phase 3
19 Dermatologic Agents Phase 2, Phase 3
20 Alkylating Agents Phase 2, Phase 3
21 Antineoplastic Agents, Alkylating Phase 2, Phase 3
22 Antimetabolites Phase 2, Phase 3
23 Antineoplastic Agents, Immunological Phase 2, Phase 3
24 Immunosuppressive Agents Phase 2, Phase 3
25 Antiviral Agents Phase 3
26 Anti-Infective Agents Phase 3
27 interferons Phase 3
28 Interferon-gamma Phase 3
29 Antirheumatic Agents Phase 2, Phase 3
30 Trace Elements Phase 3
31 Vasoconstrictor Agents Phase 3
32 Micronutrients Phase 3
33
Adenosine Approved, Investigational Phase 2 58-61-7 60961
34
Rituximab Approved Phase 2 174722-31-7
35
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
36
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
37
Acetylcysteine Approved, Investigational Phase 2 616-91-1 581 12035
38
Tocopherol Approved, Investigational Phase 2 1406-66-2
39
Clofarabine Approved, Investigational Phase 2 123318-82-1 119182
40
Lenograstim Approved, Investigational Phase 2 135968-09-1
41
DL-alpha-Tocopherol Approved, Experimental, Investigational, Nutraceutical, Vet_approved Phase 2 59-02-9, 10191-41-0 2116 14985
42
Lipoic acid Approved, Investigational, Nutraceutical Phase 2 1200-22-2 864 6112
43
Tocotrienol Investigational Phase 2 6829-55-6 9929901
44 Antilymphocyte Serum Phase 2
45 Vitamins Phase 2
46 Alpha-lipoic Acid Phase 2
47 N-monoacetylcystine Phase 2
48 Tocotrienols Phase 2
49 Tocopherols Phase 2
50 Liver Extracts 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 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 Allogeneic Hematopoietic Stem Cell Transplantation For Severe Osteopetrosis Completed NCT00775931 Phase 2, Phase 3 Campath-1H;Cyclophosphamide;Busulfan;Fludarabine monophosphate
4 Phase III Randomized Study of Interferon Gamma in Children With Severe, Congenital Osteopetrosis Completed NCT00004402 Phase 3 calcitriol;interferon gamma
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 Terminated 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 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 No longer available NCT01200017
18 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, Autosomal Dominant 2

Inferred drug relations via UMLS 71 / NDF-RT 50 :


Interferon gamma-1b

Cochrane evidence based reviews: osteopetrosis

Genetic Tests for Osteopetrosis, Autosomal Dominant 2

Genetic tests related to Osteopetrosis, Autosomal Dominant 2:

# Genetic test Affiliating Genes
1 Autosomal Dominant Osteopetrosis 2 28 CLCN7

Anatomical Context for Osteopetrosis, Autosomal Dominant 2

Organs/tissues related to Osteopetrosis, Autosomal Dominant 2:

MalaCards : Bone, Bone Marrow, Eye, T Cells, Liver, Brain

Publications for Osteopetrosis, Autosomal Dominant 2

Articles related to Osteopetrosis, Autosomal Dominant 2:

(show top 50) (show all 98)
# Title Authors PMID Year
1
Albers-Schönberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene. 62 57 5
11741829 2001
2
Mapping of autosomal dominant osteopetrosis type II (Albers-Schönberg disease) to chromosome 16p13.3. 62 57 5
11468688 2001
3
Elevated serum levels of creatine kinase BB in autosomal dominant osteopetrosis type II--a family study. 62 57 5
1516225 1992
4
Measurement of tartrate-resistant acid phosphatase and the brain isoenzyme of creatine kinase accurately diagnoses type II autosomal dominant osteopetrosis but does not identify gene carriers. 62 57
11994366 2002
5
Autosomal dominant osteopetrosis type II with "malignant" presentation: further support for heterogeneity? 62 57
2268972 1990
6
A novel CLCN7 mutation resulting in a most severe form of autosomal recessive osteopetrosis. 5
19238435 2009
7
A new heterozygous mutation (R714C) of the osteopetrosis gene, pleckstrin homolog domain containing family M (with run domain) member 1 (PLEKHM1), impairs vesicular acidification and increases TRACP secretion in osteoclasts. 57
17997709 2008
8
Autosomal dominant osteopetrosis: clinical severity and natural history of 94 subjects with a chloride channel 7 gene mutation. 57
17164308 2007
9
Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis. 5
14584882 2003
10
Type II autosomal dominant osteopetrosis (Albers-Schönberg disease): clinical and radiological manifestations in 42 patients. 57
10617161 2000
11
Locus heterogeneity of autosomal dominant osteopetrosis (ADO). 57
10084593 1999
12
Autosomal dominant osteopetrosis. 57
8358946 1993
13
Elevated levels of creatine kinase BB isoenzyme in three patients with adult osteopetrosis. 57
2710212 1989
14
Radiological, biochemical and hereditary evidence of two types of autosomal dominant osteopetrosis. 57
3377922 1988
15
Heterogeneity of autosomal dominant osteopetrosis. 57
3588909 1987
16
Creatine kinase brain isoenzyme in infantile osteopetrosis. 57
3508049 1987
17
Treatment of congenital osteopetrosis with high-dose calcitriol. 57
6546410 1984
18
Skeletal remodelling and bone related hormones in two adults with increased bone mass. 57
7078404 1982
19
Osteopetrosis. A clinical, genetic, metabolic, and morphologic study of the dominantly inherited, benign form. 57
4871758 1968
20
Osteopetrosis: review of dominant cases and frequency in a Brazilian state. 57
14496532 1961
21
Facial paralysis associated with osteopetrosis (marble bones); report of a case of the syndrome occurring in five generations of the same family. 57
13665485 1959
22
Osteopetrosis in successive generations. 57
18131787 1949
23
Identification of the CLCN7 gene mutations in two Chinese families with autosomal dominant osteopetrosis (type II). 53 62
19288050 2009
24
Polymorphisms in the CLCN7 gene modulate bone density in postmenopausal women and in patients with autosomal dominant osteopetrosis type II. 53 62
16368748 2006
25
Degradation of the organic phase of bone by osteoclasts: a secondary role for lysosomal acidification. 53 62
16355274 2006
26
Analysis of variation in expression of autosomal dominant osteopetrosis type 2: searching for modifier genes. 53 62
16120485 2005
27
Osteoclast-derived serum tartrate-resistant acid phosphatase 5b in Albers-Schonberg disease (type II autosomal dominant osteopetrosis). 53 62
15016726 2004
28
Chloride channel 7 (ClCN7) gene mutations and autosomal dominant osteopetrosis, type II. 53 62
12929941 2003
29
Higher osteoclastic demineralization and highly mineralized cement lines with osteocalcin deposition in a mandibular cortical bone of autosomal dominant osteopetrosis type II: ultrastructural and undecalcified histological investigations. 53 62
10962350 2000
30
A Mild Case of Autosomal Recessive Osteopetrosis Masquerading as the Dominant Form Involving Homozygous Deep Intronic Variations in the CLCN7 Gene. 62
35618777 2022
31
Bone marrow transplantation as a therapy for autosomal dominant osteopetrosis type 2 in mice. 62
35959867 2022
32
Autosomal dominant osteopetrosis type II resulting from a de novo mutation in the CLCN7 gene: A case report. 62
36051116 2022
33
Anterior cruciate ligament rupture in a patient with Albers-Schonberg disease. 62
35902893 2022
34
[A rare case of bilateral femoral neck fracture in a 5-year-old girl with autosomal dominant osteopetrosis type 2]. 62
35925374 2022
35
Chloroquine increases osteoclast activity in vitro but does not improve the osteopetrotic bone phenotype of ADO2 mice. 62
34464779 2021
36
Multiomics landscape of the autosomal dominant osteopetrosis type II disease-specific induced pluripotent stem cells. 62
34702373 2021
37
Radiographic imaging, densitometry and disease severity in Autosomal dominant osteopetrosis type 2. 62
33009917 2021
38
Transcriptomic and bioinformatic analysis of Clcn7-dependent Autosomal Dominant Osteopetrosis type 2. Preclinical and clinical implications. 62
33359007 2021
39
A Novel Variant in CLCN7 Regulates the Coupling of Angiogenesis and Osteogenesis. 62
33304905 2020
40
A Case of Autosomal Dominant Osteopetrosis Type 2 with a CLCN7 Gene Mutation 62
30759959 2019
41
Interferon Gamma-1b Does Not Increase Markers of Bone Resorption in Autosomal Dominant Osteopetrosis. 62
30889272 2019
42
Genotyping, generation and proteomic profiling of the first human autosomal dominant osteopetrosis type II-specific induced pluripotent stem cells. 62
31412925 2019
43
Novel CLCN7 mutations cause autosomal dominant osteopetrosis type II and intermediate autosomal recessive osteopetrosis. 62
30942407 2019
44
Enhanced Activation of Rac1/Cdc42 and MITF Leads to Augmented Osteoclastogenesis in Autosomal Dominant Osteopetrosis Type II. 62
30828687 2019
45
Extra-skeletal manifestations in mice affected by Clcn7-dependent autosomal dominant osteopetrosis type 2 clinical and therapeutic implications. 62
31231577 2019
46
RNA interference therapy for autosomal dominant osteopetrosis type 2. Towards the preclinical development. 62
29501587 2018
47
Locking plate osteosynthesis for a femoral fracture and subsequent nonunion in a patient with osteopetrosis. 62
30273906 2018
48
Clinical Significance of DXA and HR-pQCT in Autosomal Dominant Osteopetrosis (ADO II). 62
29018903 2018
49
Clcn7F318L/+ as a new mouse model of Albers-Schönberg disease. 62
28942122 2017
50
Novel mutations of CLCN7 cause autosomal dominant osteopetrosis type II (ADOII) and intermediate autosomal recessive osteopetrosis (ARO) in seven Chinese families. 62
28975865 2017

Variations for Osteopetrosis, Autosomal Dominant 2

ClinVar genetic disease variations for Osteopetrosis, Autosomal Dominant 2:

5 (show all 26)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CLCN7 NM_001287.6(CLCN7):c.2274C>G (p.Phe758Leu) SNV Pathogenic
1684675 GRCh37: 16:1497064-1497064
GRCh38: 16:1447063-1447063
2 CLCN7 NM_001287.6(CLCN7):c.2066del (p.Lys689fs) DEL Pathogenic
1685637 GRCh37: 16:1497663-1497663
GRCh38: 16:1447662-1447662
3 CLCN7 NM_001287.6(CLCN7):c.1562G>C (p.Gly521Ala) SNV Pathogenic
1685638 GRCh37: 16:1500553-1500553
GRCh38: 16:1450552-1450552
4 CLCN7 NM_001287.6(CLCN7):c.952T>C (p.Phe318Leu) SNV Pathogenic
1012215 rs2038825509 GRCh37: 16:1505761-1505761
GRCh38: 16:1455760-1455760
5 CLCN7 NM_001287.6(CLCN7):c.2385_2386del (p.Gly796fs) MICROSAT Pathogenic
1371048 GRCh37: 16:1496664-1496665
GRCh38: 16:1446663-1446664
6 CLCN7 NM_001287.6(CLCN7):c.2299C>T (p.Arg767Trp) SNV Pathogenic
6863 rs121434435 GRCh37: 16:1497039-1497039
GRCh38: 16:1447038-1447038
7 CLCN7 NM_001287.6(CLCN7):c.857G>A (p.Arg286Gln) SNV Pathogenic
438670 rs760956030 GRCh37: 16:1506173-1506173
GRCh38: 16:1456172-1456172
8 CLCN7 NM_001287.6(CLCN7):c.643G>A (p.Gly215Arg) SNV Pathogenic
65635 rs397515539 GRCh37: 16:1509140-1509140
GRCh38: 16:1459139-1459139
9 CLCN7 NM_001287.6(CLCN7):c.856C>T (p.Arg286Trp) SNV Pathogenic
1068483 GRCh37: 16:1506174-1506174
GRCh38: 16:1456173-1456173
10 CLCN7 NM_001287.6(CLCN7):c.296A>G (p.Tyr99Cys) SNV Likely Pathogenic
56890 rs387907576 GRCh37: 16:1511461-1511461
GRCh38: 16:1461460-1461460
11 CLCN7 NM_001287.6(CLCN7):c.1077C>A (p.Asn359Lys) SNV Likely Pathogenic
1334479 GRCh37: 16:1505156-1505156
GRCh38: 16:1455155-1455155
12 CLCN7 NM_001287.6(CLCN7):c.994A>G (p.Met332Val) SNV Likely Pathogenic
1526273 GRCh37: 16:1505239-1505239
GRCh38: 16:1455238-1455238
13 CLCN7 NM_001287.6(CLCN7):c.1841T>G (p.Leu614Arg) SNV Likely Pathogenic
867226 rs1064794323 GRCh37: 16:1498724-1498724
GRCh38: 16:1448723-1448723
14 CLCN7 NM_001287.6(CLCN7):c.739-18G>A SNV Uncertain Significance
1029299 rs371893553 GRCh37: 16:1507356-1507356
GRCh38: 16:1457355-1457355
15 CLCN7 NM_001287.6(CLCN7):c.2073+4C>T SNV Uncertain Significance
626086 rs768190489 GRCh37: 16:1497652-1497652
GRCh38: 16:1447651-1447651
16 CLCN7 NM_001287.6(CLCN7):c.2251-50G>A SNV Benign
1185532 GRCh37: 16:1497137-1497137
GRCh38: 16:1447136-1447136
17 CLCN7 NM_001287.6(CLCN7):c.1884-35T>C SNV Benign
1182661 GRCh37: 16:1498520-1498520
GRCh38: 16:1448519-1448519
18 CLCN7 NM_001287.6(CLCN7):c.1618-49G>A SNV Benign
1183287 GRCh37: 16:1499377-1499377
GRCh38: 16:1449376-1449376
19 CLCN7 NM_001287.6(CLCN7):c.1448-43dup DUP Benign
1185533 GRCh37: 16:1500708-1500709
GRCh38: 16:1450707-1450708
20 CLCN7 NM_001287.6(CLCN7):c.126T>C (p.Pro42=) SNV Benign
193203 rs3751884 GRCh37: 16:1524850-1524850
GRCh38: 16:1474849-1474849
21 CLCN7 NM_001287.6(CLCN7):c.1170A>T (p.Ala390=) SNV Benign
257949 rs2235579 GRCh37: 16:1503879-1503879
GRCh38: 16:1453878-1453878
22 CLCN7 NM_001287.6(CLCN7):c.285+52C>A SNV Benign
1185332 GRCh37: 16:1511552-1511552
GRCh38: 16:1461551-1461551
23 CLCN7 NM_001287.6(CLCN7):c.485-39A>C SNV Benign
1174284 GRCh37: 16:1510567-1510567
GRCh38: 16:1460566-1460566
24 CLCN7 NM_001287.6(CLCN7):c.676-86C>G SNV Benign
1185331 GRCh37: 16:1507843-1507843
GRCh38: 16:1457842-1457842
25 CLCN7 NM_001287.6(CLCN7):c.676-85G>A SNV Benign
1185330 GRCh37: 16:1507842-1507842
GRCh38: 16:1457841-1457841
26 CLCN7 NM_001287.6(CLCN7):c.981+133G>A SNV Benign
1185329 GRCh37: 16:1505599-1505599
GRCh38: 16:1455598-1455598

UniProtKB/Swiss-Prot genetic disease variations for Osteopetrosis, Autosomal Dominant 2:

73
# Symbol AA change Variation ID SNP ID
1 CLCN7 p.Arg762Gln VAR_017838 rs121434433
2 CLCN7 p.Arg767Trp VAR_017840 rs121434435
3 CLCN7 p.Gly215Arg VAR_020997 rs397515539
4 CLCN7 p.Arg286Gln VAR_021000 rs760956030
5 CLCN7 p.Leu490Phe VAR_021003
6 CLCN7 p.Gly677Val VAR_021006
7 CLCN7 p.Phe318Leu VAR_064640
8 CLCN7 p.Phe758Leu VAR_064646 rs760740877

Expression for Osteopetrosis, Autosomal Dominant 2

Search GEO for disease gene expression data for Osteopetrosis, Autosomal Dominant 2.

Pathways for Osteopetrosis, Autosomal Dominant 2

GO Terms for Osteopetrosis, Autosomal Dominant 2

Cellular components related to Osteopetrosis, Autosomal Dominant 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lysosome GO:0005764 9.17 TCIRG1 OSTM1 CTSK CLCN7 ACP5

Biological processes related to Osteopetrosis, Autosomal Dominant 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ossification GO:0001503 9.85 TNFSF11 TCIRG1 BGLAP
2 osteoblast development GO:0002076 9.78 LRP5 BGLAP
3 cellular response to zinc ion starvation GO:0034224 9.71 CTSK BGLAP
4 transepithelial chloride transport GO:0030321 9.67 OSTM1 CLCN7
5 bone development GO:0060348 9.62 BGLAP LRP5 TNFSF11
6 regulation of osteoclast differentiation GO:0045670 9.61 TNFSF11 BGLAP
7 tooth eruption GO:0044691 9.56 TNFSF11 TCIRG1
8 osteoclast proliferation GO:0002158 9.46 TNFSF11 TCIRG1
9 osteoclast differentiation GO:0030316 9.43 TNFSF11 TCIRG1 OSTM1
10 bone resorption GO:0045453 9.23 TNFSF11 TCIRG1 CTSK ACP5

Sources for Osteopetrosis, Autosomal Dominant 2

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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