OPTA2
MCID: OST131
MIFTS: 52

Osteopetrosis, Autosomal Dominant 2 (OPTA2)

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

Aliases & Classifications for Osteopetrosis, Autosomal Dominant 2

MalaCards integrated aliases for Osteopetrosis, Autosomal Dominant 2:

Name: Osteopetrosis, Autosomal Dominant 2 57 72 13
Osteopetrosis Autosomal Dominant Type 2 12 20 58 70
Autosomal Dominant Osteopetrosis 2 12 29 6 15
Opta2 57 12 20 72
Autosomal Dominant Albers-Schonberg Disease 12 72
Osteopetrosis, Autosomal Dominant, Type Ii 57 54
Albers-Schonberg Osteopetrosis 12 58
Osteopetrosis 44 70
Albers-Schonberg Disease, Autosomal Dominant 57
Osteopetrosis, Autosomal Dominant, Type 2 39
Autosomal Dominant Osteopetrosis Type Ii 12
Autosomal Dominant Osteopetrosis Type 2 20
Osteosclerosis Fragilis Generalisata 57
Marble Disease Autosomal Dominant 72
Marble Bones, Autosomal Dominant 57
Albers-Schönberg Osteopetrosis 20

Characteristics:

Orphanet epidemiological data:

58
albers-schonberg osteopetrosis
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Childhood; Age of death: normal life expectancy;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

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


HPO:

31
osteopetrosis, autosomal dominant 2:
Inheritance autosomal dominant inheritance heterogeneous
Onset and clinical course juvenile onset


Classifications:

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


Summaries for Osteopetrosis, Autosomal Dominant 2

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.

MalaCards based summary : Osteopetrosis, Autosomal Dominant 2, also known as osteopetrosis autosomal dominant type 2, is related to osteopetrosis, autosomal recessive 1 and osteopetrosis, autosomal recessive 3. An important gene associated with Osteopetrosis, Autosomal Dominant 2 is CLCN7 (Chloride Voltage-Gated Channel 7), and among its related pathways/superpathways are Transcription_Role of VDR in regulation of genes involved in osteoporosis and Development_Hedgehog and PTH signaling pathways in bone and cartilage development. The drugs Fludarabine and alemtuzumab have been mentioned in the context of this disorder. Affiliated tissues include bone, eye and bone marrow, and related phenotypes are macrocephaly and frontal bossing

Disease Ontology : 12 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.

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 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 Osteopetrosis, autosomal dominant 2: 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.

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 383)
# Related Disease Score Top Affiliating Genes
1 osteopetrosis, autosomal recessive 1 32.9 TCIRG1 CLCN7
2 osteopetrosis, autosomal recessive 3 32.8 TCIRG1 CLCN7
3 osteopetrosis, autosomal recessive 7 32.7 TNFSF11 TCIRG1 CLCN7
4 osteopetrosis, autosomal recessive 6 32.6 TNFSF11 TCIRG1 CLCN7
5 osteopetrosis, autosomal recessive 5 32.6 TNFSF11 TCIRG1 CLCN7
6 osteopetrosis, autosomal recessive 2 32.1 TNFSF11 TCIRG1 CLCN7 ACP5
7 osteopetrosis, autosomal recessive 8 31.9 TNFSF11 TCIRG1 CLCN7 ACP5
8 osteomyelitis 30.4 TNFSF11 ACP5
9 osteopetrosis, autosomal recessive 4 30.4 TNFSF11 TCIRG1 CLCN7
10 sclerosteosis 30.2 TNFSF11 BGLAP
11 autosomal recessive malignant osteopetrosis 30.2 TNFSF11 TCIRG1 CLCN7
12 ankylosis 30.1 TNFSF11 BGLAP
13 osteonecrosis 30.0 TNFSF11 BGLAP ACP5
14 osteopetrosis 30.0 TNFSF11 TCIRG1 CLCN7 BGLAP ACP5
15 periodontitis 29.9 TNFSF11 BGLAP ACP5
16 hyperparathyroidism 29.9 TNFSF11 BGLAP ACP5
17 bone disease 29.9 TNFSF11 CLCN7 BGLAP ACP5
18 bone resorption disease 29.8 TNFSF11 BGLAP ACP5
19 mammary paget's disease 29.8 TNFSF11 BGLAP ACP5
20 craniodiaphyseal dysplasia 29.7 TCIRG1 CLCN7
21 secondary hyperparathyroidism 29.7 BGLAP ACP5
22 paget's disease of bone 29.7 TNFSF11 BGLAP ACP5
23 pycnodysostosis 29.7 TNFSF11 TCIRG1 CLCN7 ACP5
24 fibrous dysplasia 29.6 TNFSF11 BGLAP
25 scoliosis 29.5 TNFSF11 BGLAP ACP5
26 endosteal hyperostosis, autosomal dominant 29.5 TNFSF11 TCIRG1 CLCN7 ACP5
27 bone giant cell tumor 29.5 TNFSF11 ACP5
28 brittle bone disorder 29.5 TNFSF11 BGLAP ACP5
29 camurati-engelmann disease 29.5 BGLAP ACP5
30 spondyloarthropathy 1 29.4 TNFSF11 BGLAP
31 craniometaphyseal dysplasia, autosomal dominant 29.4 TNFSF11 TCIRG1 CLCN7 BGLAP ACP5
32 osteoporosis 29.1 TNFSF11 TCIRG1 CLCN7 BGLAP ACP5
33 odontochondrodysplasia 29.0 TNFSF11 CLCN7 BGLAP ACP5
34 osteopetrosis, autosomal dominant 1 11.7
35 osteopetrosis, autosomal dominant 3 11.5
36 ectodermal dysplasia and immunodeficiency 1 11.5
37 coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness 11.4
38 osteopetrosis and infantile neuroaxonal dystrophy 11.1
39 csf1r-related brain malformation and osteopetrosis 11.0
40 infantile osteopetrosis with neuroaxonal dysplasia 11.0
41 raine syndrome 10.9
42 trichodentoosseous syndrome 10.8
43 renal tubular acidosis 10.5
44 rickets 10.4
45 clcn7-related osteopetrosis 10.4
46 pancytopenia 10.3
47 branchiootic syndrome 1 10.3
48 autosomal recessive disease 10.3
49 3-methylglutaconic aciduria, type iii 10.3
50 graft-versus-host disease 10.2

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 31 (show all 38)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000256
2 frontal bossing 58 31 hallmark (90%) Very frequent (99-80%) HP:0002007
3 facial palsy 58 31 hallmark (90%) Very frequent (99-80%) HP:0010628
4 avascular necrosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0010885
5 abnormality of the metaphysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000944
6 recurrent fractures 58 31 hallmark (90%) Very frequent (99-80%) HP:0002757
7 abnormality of epiphysis morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0005930
8 joint dislocation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001373
9 osteoarthritis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002758
10 short distal phalanx of finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0009882
11 abnormality of the metacarpal bones 58 31 hallmark (90%) Very frequent (99-80%) HP:0001163
12 bone pain 58 31 hallmark (90%) Very frequent (99-80%) HP:0002653
13 generalized osteosclerosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0005789
14 mandibular osteomyelitis 58 31 hallmark (90%) Very frequent (99-80%) HP:0007626
15 optic atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0000648
16 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
17 anemia 58 31 frequent (33%) Frequent (79-30%) HP:0001903
18 genu valgum 58 31 frequent (33%) Frequent (79-30%) HP:0002857
19 hydrocephalus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000238
20 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
21 carious teeth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000670
22 blindness 58 31 occasional (7.5%) Occasional (29-5%) HP:0000618
23 hypocalcemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002901
24 abnormal leukocyte morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001881
25 bone marrow hypocellularity 31 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 pelvic girdle bone morphology 31 HP:0002644
31 osteomyelitis 58 Very frequent (99-80%)
32 osteopetrosis 31 HP:0011002
33 fractures of the long bones 31 HP:0003084
34 visual loss 31 HP:0000572
35 hip osteoarthritis 31 HP:0008843
36 facial paralysis 31 HP:0007209
37 abnormality of the vertebral endplates 31 HP:0005106
38 elevated serum acid phosphatase 31 HP:0003148

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 05-Apr-2021)

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 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 Hormones Phase 3
25 Calcium, Dietary Phase 3
26 Anti-Infective Agents Phase 3
27 Antiviral Agents Phase 3
28 interferons Phase 3
29 Interferon-gamma Phase 3
30 Nutrients Phase 3
31 Micronutrients Phase 3
32 Vasoconstrictor Agents Phase 3
33 Trace Elements Phase 3
34 Antirheumatic Agents Phase 2, Phase 3
35
Calcium Nutraceutical Phase 3 7440-70-2 271
36
Adenosine Approved, Investigational Phase 2 58-61-7 60961
37
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
38
rituximab Approved Phase 2 174722-31-7 10201696
39
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
40
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
41
Tocopherol Approved, Investigational Phase 2 1406-66-2
42
Clofarabine Approved, Investigational Phase 2 123318-82-1 119182
43
Sargramostim Approved, Investigational Phase 2 123774-72-1, 83869-56-1
44
Lenograstim Approved, Investigational Phase 2 135968-09-1
45
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
46 Tocotrienol Investigational Phase 2 6829-55-6
47 Vitamins Phase 2
48 Antilymphocyte Serum Phase 2
49 Alpha-lipoic Acid Phase 2
50 Tocopherols 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, Autosomal Dominant 2

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


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 29 CLCN7

Anatomical Context for Osteopetrosis, Autosomal Dominant 2

MalaCards organs/tissues related to Osteopetrosis, Autosomal Dominant 2:

40
Bone, Eye, Bone Marrow, T Cells, Liver, Brain

Publications for Osteopetrosis, Autosomal Dominant 2

Articles related to Osteopetrosis, Autosomal Dominant 2:

(show all 28)
# Title Authors PMID Year
1
Albers-Schönberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene. 6 57
11741829 2001
2
Mapping of autosomal dominant osteopetrosis type II (Albers-Schönberg disease) to chromosome 16p13.3. 6 57
11468688 2001
3
Elevated serum levels of creatine kinase BB in autosomal dominant osteopetrosis type II--a family study. 6 57
1516225 1992
4
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
5
Autosomal dominant osteopetrosis: clinical severity and natural history of 94 subjects with a chloride channel 7 gene mutation. 57
17164308 2007
6
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. 57
11994366 2002
7
Type II autosomal dominant osteopetrosis (Albers-Schönberg disease): clinical and radiological manifestations in 42 patients. 57
10617161 2000
8
Locus heterogeneity of autosomal dominant osteopetrosis (ADO). 57
10084593 1999
9
Autosomal dominant osteopetrosis. 57
8358946 1993
10
Autosomal dominant osteopetrosis type II with "malignant" presentation: further support for heterogeneity? 57
2268972 1990
11
Elevated levels of creatine kinase BB isoenzyme in three patients with adult osteopetrosis. 57
2710212 1989
12
Radiological, biochemical and hereditary evidence of two types of autosomal dominant osteopetrosis. 57
3377922 1988
13
Heterogeneity of autosomal dominant osteopetrosis. 57
3588909 1987
14
Creatine kinase brain isoenzyme in infantile osteopetrosis. 57
3508049 1987
15
Treatment of congenital osteopetrosis with high-dose calcitriol. 57
6546410 1984
16
Skeletal remodelling and bone related hormones in two adults with increased bone mass. 57
7078404 1982
17
Osteopetrosis. A clinical, genetic, metabolic, and morphologic study of the dominantly inherited, benign form. 57
4871758 1968
18
Osteopetrosis: review of dominant cases and frequency in a Brazilian state. 57
14496532 1961
19
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
20
Osteopetrosis in successive generations. 57
18131787 1949
21
Novel mutations of CLCN7 cause autosomal dominant osteopetrosis type II (ADOII) and intermediate autosomal recessive osteopetrosis (ARO) in seven Chinese families. 61
28975865 2017
22
Identification of the CLCN7 gene mutations in two Chinese families with autosomal dominant osteopetrosis (type II). 54
19288050 2009
23
Polymorphisms in the CLCN7 gene modulate bone density in postmenopausal women and in patients with autosomal dominant osteopetrosis type II. 54
16368748 2006
24
Degradation of the organic phase of bone by osteoclasts: a secondary role for lysosomal acidification. 54
16355274 2006
25
Analysis of variation in expression of autosomal dominant osteopetrosis type 2: searching for modifier genes. 54
16120485 2005
26
Osteoclast-derived serum tartrate-resistant acid phosphatase 5b in Albers-Schonberg disease (type II autosomal dominant osteopetrosis). 54
15016726 2004
27
Chloride channel 7 (ClCN7) gene mutations and autosomal dominant osteopetrosis, type II. 54
12929941 2003
28
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. 54
10962350 2000

Variations for Osteopetrosis, Autosomal Dominant 2

ClinVar genetic disease variations for Osteopetrosis, Autosomal Dominant 2:

6
# 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 CLCN7 NM_001287.6(CLCN7):c.2107C>T (p.Gln703Ter) SNV Pathogenic 1033822 GRCh37: 16:1497536-1497536
GRCh38: 16:1447535-1447535
6 CLCN7 NM_001287.6(CLCN7):c.1841T>G (p.Leu614Arg) SNV Likely pathogenic 867226 GRCh37: 16:1498724-1498724
GRCh38: 16:1448723-1448723
7 CLCN7 NM_001287.6(CLCN7):c.296A>G (p.Tyr99Cys) SNV Likely pathogenic 56890 rs387907576 GRCh37: 16:1511461-1511461
GRCh38: 16:1461460-1461460
8 CLCN7 NM_001287.6(CLCN7):c.739-18G>A SNV Uncertain significance 1029299 GRCh37: 16:1507356-1507356
GRCh38: 16:1457355-1457355
9 CLCN7 NM_001287.6(CLCN7):c.2073+4C>T SNV Uncertain significance 626086 rs768190489 GRCh37: 16:1497652-1497652
GRCh38: 16:1447651-1447651

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

72
# 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

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

# Super pathways Score Top Affiliating Genes
1 10.97 TNFSF11 BGLAP
2 10.85 TNFSF11 BGLAP
3 10.77 TNFSF11 TCIRG1 ACP5
4 10.36 TNFSF11 ACP5
5 10.1 TNFSF11 BGLAP

GO Terms for Osteopetrosis, Autosomal Dominant 2

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

# Name GO ID Score Top Affiliating Genes
1 bone development GO:0060348 9.43 TNFSF11 BGLAP
2 odontogenesis GO:0042476 9.4 TCIRG1 BGLAP
3 osteoclast differentiation GO:0030316 9.37 TNFSF11 TCIRG1
4 regulation of osteoclast differentiation GO:0045670 9.32 TNFSF11 BGLAP
5 tooth eruption GO:0044691 9.26 TNFSF11 TCIRG1
6 osteoclast proliferation GO:0002158 9.16 TNFSF11 TCIRG1
7 bone resorption GO:0045453 9.13 TNFSF11 TCIRG1 ACP5
8 ossification GO:0001503 8.92 TNFSF11 TCIRG1 BGLAP ACP5

Sources for Osteopetrosis, Autosomal Dominant 2

3 CDC
7 CNVD
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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
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46 MGI
49 NCI
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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
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