MCID: ATS282
MIFTS: 37

Autosomal Recessive Malignant Osteopetrosis

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

Aliases & Classifications for Autosomal Recessive Malignant Osteopetrosis

MalaCards integrated aliases for Autosomal Recessive Malignant Osteopetrosis:

Name: Autosomal Recessive Malignant Osteopetrosis 58
Infantile Malignant Osteopetrosis 58 71

Characteristics:

Orphanet epidemiological data:

58
autosomal recessive malignant osteopetrosis
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

Classifications:

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


Summaries for Autosomal Recessive Malignant Osteopetrosis

MalaCards based summary : Autosomal Recessive Malignant Osteopetrosis, also known as infantile malignant osteopetrosis, is related to osteopetrosis, autosomal recessive 5 and osteopetrosis, autosomal recessive 1. An important gene associated with Autosomal Recessive Malignant Osteopetrosis is TCIRG1 (T Cell Immune Regulator 1, ATPase H+ Transporting V0 Subunit A3), and among its related pathways/superpathways is Rheumatoid arthritis. Affiliated tissues include bone, bone marrow and eye, and related phenotypes are macrocephaly and abnormality of epiphysis morphology

Related Diseases for Autosomal Recessive Malignant Osteopetrosis

Diseases in the Osteopetrosis family:

Osteopetrosis, Autosomal Dominant 2 Osteopetrosis, Autosomal Recessive 1
Osteopetrosis, Autosomal Recessive 2 Osteopetrosis, Autosomal Recessive 5
Osteopetrosis, Autosomal Recessive 3 Osteopetrosis, Autosomal Dominant 1
Osteopetrosis, Autosomal Recessive 4 Osteopetrosis, Autosomal Recessive 6
Osteopetrosis, Autosomal Recessive 7 Osteopetrosis, Autosomal Recessive 8
Osteopetrosis, Autosomal Dominant 3 Clcn7-Related Osteopetrosis
Autosomal Recessive Malignant Osteopetrosis

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

(show all 50)
# Related Disease Score Top Affiliating Genes
1 osteopetrosis, autosomal recessive 5 32.8 TCIRG1 CLCN7
2 osteopetrosis, autosomal recessive 1 32.6 TCIRG1 CLCN7
3 osteopetrosis, autosomal recessive 4 32.0 TCIRG1 CLCN7
4 endosteal hyperostosis, autosomal dominant 29.3 TNFSF11 TCIRG1 CLCN7
5 bone disease 29.1 TNFSF11 CLCN7
6 osteopetrosis 28.6 TNFSF11 TCIRG1 SNX10 CLCN7
7 autosomal recessive disease 10.3
8 thrombocytopenia 10.3
9 yemenite deaf-blind hypopigmentation syndrome 10.2
10 clcn7-related osteopetrosis 10.2
11 branchiootic syndrome 1 10.1
12 graft-versus-host disease 10.1
13 pancytopenia 10.1
14 pathologic nystagmus 10.1
15 bone resorption disease 10.0
16 pulmonary hypertension, primary, 1 10.0
17 silver-russell syndrome 10.0
18 strabismus 10.0
19 myelofibrosis 10.0
20 3-methylglutaconic aciduria, type iii 10.0
21 juvenile myelomonocytic leukemia 10.0
22 choanal atresia, posterior 10.0
23 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
24 pulmonary hypertension 10.0
25 hypophosphatemia 10.0
26 hepatic veno-occlusive disease 10.0
27 osteomyelitis 10.0
28 osteomalacia 10.0
29 rickets 10.0
30 respiratory failure 10.0
31 diarrhea 10.0
32 agammaglobulinemia 10.0
33 retinal degeneration 10.0
34 mechanical strabismus 10.0
35 diencephalic syndrome 10.0
36 homologous wasting disease 10.0
37 hypotonia 10.0
38 axial osteomalacia 9.8 TCIRG1 CLCN7
39 fibrogenesis imperfecta ossium 9.8 TCIRG1 CLCN7
40 osteopetrosis, autosomal recessive 6 9.7 TCIRG1 CLCN7
41 renal tubular acidosis 9.6 TCIRG1 CLCN7
42 osteopetrosis, autosomal recessive 2 9.5 TNFSF11 TCIRG1 CLCN7
43 osteopetrosis, autosomal dominant 2 9.4 TNFSF11 TCIRG1 CLCN7
44 pycnodysostosis 9.4 TNFSF11 TCIRG1 CLCN7
45 bone remodeling disease 9.4 TNFSF11 TCIRG1 CLCN7
46 osteopetrosis, autosomal recessive 8 9.2 TCIRG1 SNX10 CLCN7
47 craniodiaphyseal dysplasia 9.2 TCIRG1 SNX10 CLCN7
48 osteopetrosis, autosomal recessive 3 9.2 TCIRG1 SNX10 CLCN7
49 osteoporosis 9.1 TNFSF11 TCIRG1 CLCN7
50 craniometaphyseal dysplasia, autosomal dominant 8.8 TNFSF11 TCIRG1 SNX10 CLCN7

Graphical network of the top 20 diseases related to Autosomal Recessive Malignant Osteopetrosis:



Diseases related to Autosomal Recessive Malignant Osteopetrosis

Symptoms & Phenotypes for Autosomal Recessive Malignant Osteopetrosis

Human phenotypes related to Autosomal Recessive Malignant Osteopetrosis:

58 31 (show all 44)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000256
2 abnormality of epiphysis morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0005930
3 hydrocephalus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000238
4 nystagmus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000639
5 tremor 58 31 hallmark (90%) Very frequent (99-80%) HP:0001337
6 hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000365
7 splenomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001744
8 recurrent respiratory infections 58 31 hallmark (90%) Very frequent (99-80%) HP:0002205
9 hepatomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0002240
10 bowing of the long bones 58 31 hallmark (90%) Very frequent (99-80%) HP:0006487
11 craniosynostosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001363
12 visual impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000505
13 abnormality of visual evoked potentials 58 31 hallmark (90%) Very frequent (99-80%) HP:0000649
14 anemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001903
15 pallor 58 31 hallmark (90%) Very frequent (99-80%) HP:0000980
16 abnormal blistering of the skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0008066
17 abnormality of the metaphysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000944
18 delayed eruption of teeth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000684
19 narrow chest 58 31 hallmark (90%) Very frequent (99-80%) HP:0000774
20 reduced bone mineral density 58 31 hallmark (90%) Very frequent (99-80%) HP:0004349
21 growth delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001510
22 abnormality of temperature regulation 58 31 hallmark (90%) Very frequent (99-80%) HP:0004370
23 abnormality of the ribs 58 31 hallmark (90%) Very frequent (99-80%) HP:0000772
24 recurrent fractures 58 31 hallmark (90%) Very frequent (99-80%) HP:0002757
25 otitis media 58 31 hallmark (90%) Very frequent (99-80%) HP:0000388
26 bone pain 58 31 hallmark (90%) Very frequent (99-80%) HP:0002653
27 lymphadenopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0002716
28 chronic rhinitis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002257
29 osteopetrosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0011002
30 optic nerve compression 58 31 hallmark (90%) Very frequent (99-80%) HP:0007807
31 abnormality of hair texture 58 31 hallmark (90%) Very frequent (99-80%) HP:0010719
32 premature loss of primary teeth 58 31 hallmark (90%) Very frequent (99-80%) HP:0006323
33 opsoclonus 58 31 hallmark (90%) Very frequent (99-80%) HP:0010543
34 hypophosphatemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002148
35 cranial nerve paralysis 58 31 occasional (7.5%) Occasional (29-5%) HP:0006824
36 pulmonary arterial hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0002092
37 apnea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002104
38 hypocalcemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002901
39 bruising susceptibility 58 31 occasional (7.5%) Occasional (29-5%) HP:0000978
40 pulmonary artery stenosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0004415
41 abnormal pulmonary valve morphology 31 occasional (7.5%) HP:0001641
42 abnormality of metabolism/homeostasis 58 Very frequent (99-80%)
43 abnormality of movement 58 Very frequent (99-80%)
44 abnormality of the pulmonary valve 58 Occasional (29-5%)

MGI Mouse Phenotypes related to Autosomal Recessive Malignant Osteopetrosis:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.62 CLCN7 SNX10 TCIRG1 TNFSF11
2 hematopoietic system MP:0005397 9.56 CLCN7 SNX10 TCIRG1 TNFSF11
3 immune system MP:0005387 9.46 CLCN7 SNX10 TCIRG1 TNFSF11
4 limbs/digits/tail MP:0005371 9.13 CLCN7 TCIRG1 TNFSF11
5 skeleton MP:0005390 8.92 CLCN7 SNX10 TCIRG1 TNFSF11

Drugs & Therapeutics for Autosomal Recessive Malignant Osteopetrosis

Search Clinical Trials , NIH Clinical Center for Autosomal Recessive Malignant Osteopetrosis

Genetic Tests for Autosomal Recessive Malignant Osteopetrosis

Anatomical Context for Autosomal Recessive Malignant Osteopetrosis

MalaCards organs/tissues related to Autosomal Recessive Malignant Osteopetrosis:

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

Publications for Autosomal Recessive Malignant Osteopetrosis

Articles related to Autosomal Recessive Malignant Osteopetrosis:

(show top 50) (show all 88)
# Title Authors PMID Year
1
Novel mutations in the TCIRG1 gene encoding the a3 subunit of the vacuolar proton pump in patients affected by infantile malignant osteopetrosis. 61 6
12552563 2003
2
Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man. 6 61
11207362 2001
3
Mutations in the a3 subunit of the vacuolar H(+)-ATPase cause infantile malignant osteopetrosis. 61 6
10942435 2000
4
Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis. 61 6
10888887 2000
5
Homozygous stop mutation in the SNX10 gene in a consanguineous Iraqi boy with osteopetrosis and corpus callosum hypoplasia. 6
23123320 2013
6
An SNX10 mutation causes malignant osteopetrosis of infancy. 6
22499339 2012
7
Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL. 6
17632511 2007
8
CLCN7-Related Osteopetrosis 6
20301306 2007
9
DNA-based diagnosis of malignant osteopetrosis by whole-genome scan using a single-nucleotide polymorphism microarray: standardization of molecular investigations of genetic diseases due to consanguinity. 6
17033731 2007
10
A phenocopy of CAII deficiency: a novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis. 6
12566520 2003
11
Albers-Schönberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene. 6
11741829 2001
12
The mutational spectrum of human malignant autosomal recessive osteopetrosis. 6
11532986 2001
13
Hematopoietic Stem Cell-Targeted Neonatal Gene Therapy with a Clinically Applicable Lentiviral Vector Corrects Osteopetrosis in oc/oc Mice. 61
31179768 2019
14
Targeting NSG Mice Engrafting Cells with a Clinically Applicable Lentiviral Vector Corrects Osteoclasts in Infantile Malignant Osteopetrosis. 61
28726516 2018
15
Whole exome sequencing identified two novel homozygous missense variants in the same codon of CLCN7 underlying autosomal recessive infantile malignant osteopetrosis in a Pakistani family. 61
29926385 2018
16
Successful hematopoietic stem cell transplantation for osteopetrosis using reduced intensity conditioning. 61
29469225 2018
17
Ophthalmic phenotype of TCIRG1 gene mutations in Chinese infantile malignant osteopetrosis. 61
30539151 2018
18
[Identification of new mutations in TCIRG1 as a cause of infantile malignant osteopetrosis in two Mexican patients]. 61
29723947 2018
19
Novel mutations of TCIRG1 cause a malignant and mild phenotype of autosomal recessive osteopetrosis (ARO) in four Chinese families. 61
28816234 2017
20
Coexisting variants in OSTM1 and MANEAL cause a complex neurodegenerative disorder with NBIA-like brain abnormalities. 61
28612835 2017
21
[Analysis of TCIRG1 gene mutation in a Chinese family affected with infantile malignant osteopetrosis]. 61
28604959 2017
22
Regulation and Function of Lentiviral Vector-Mediated TCIRG1 Expression in Osteoclasts from Patients with Infantile Malignant Osteopetrosis: Implications for Gene Therapy. 61
27541021 2016
23
Extending the Spectrum of Radiological Findings in Patients With Severe Osteopetrosis and Different Genetic Backgrounds. 61
26970326 2016
24
Identification and Characterization of Mutations in the CLCN7 Gene in a Taiwanese Patient with Infantile Malignant Osteopetrosis. 61
26365571 2016
25
Improved Outcomes of Hematopoietic Stem Cell Transplantation in Patients With Infantile Malignant Osteopetrosis Using Fludarabine-Based Conditioning. 61
26485304 2016
26
A novel mutation and a known mutation in the CLCN7 gene associated with relatively stable infantile malignant osteopetrosis in a Chinese patient. 61
26477479 2016
27
Unmistakable Morphology? Infantile Malignant Osteopetrosis Resembling Juvenile Myelomonocytic Leukemia in Infants. 61
25982139 2015
28
[Preimplantation genetic diagnosis of infantile malignant osteopetrosis in a Chinese family]. 61
26037338 2015
29
A fatal case of infantile malignant osteopetrosis complicated by pulmonary arterial hypertension after hematopoietic stem cell transplantation. 61
25504019 2014
30
Osteopetrosis mimicking juvenile myelomonocytic leukemia. 61
25335998 2014
31
Identification of novel mutation in autosomal recessive infantile malignant osteopetrosis. 61
24101165 2014
32
Lentiviral gene transfer of TCIRG1 into peripheral blood CD34(+) cells restores osteoclast function in infantile malignant osteopetrosis. 61
23907031 2013
33
Infantile malignant osteopetrosis. 61
23721911 2013
34
Severe neuronopathic autosomal recessive osteopetrosis due to homozygous deletions affecting OSTM1. 61
23685543 2013
35
Osteopetrosis mutation R444L causes endoplasmic reticulum retention and misprocessing of vacuolar H+-ATPase a3 subunit. 61
22685294 2012
36
Infantile malignant osteopetrosis: report of 2 cases with osteomyelitis of the jaws. 61
22828766 2012
37
Disruption of the V-ATPase functionality as a way to uncouple bone formation and resorption - a novel target for treatment of osteoporosis. 61
22044152 2012
38
Infantile malignant osteopetrosis: a rare cause of neonatal hypocalcemia. 61
23329773 2012
39
[Bilateral optic nerve decompression at infantile-malignant osteopetrosis and Silver-Russell-syndrome]. 61
21437846 2011
40
Novel mutation of TCIRG1 and clinical pictures of two infantile malignant osteopetrosis patients. 61
21042819 2011
41
Scarcity despite wealth: osteopetrorickets. 61
21175093 2010
42
Nonablative neonatal bone marrow transplantation rapidly reverses severe murine osteopetrosis despite low-level engraftment and lack of selective expansion of the osteoclastic lineage. 61
20568230 2010
43
[Genetic basis for skeletal disease. Molecular advances in sclerosing bone disorders]. 61
20675930 2010
44
Osteopetrorickets: infantile malignant osteopetrosis paradoxically complicated by rickets. 61
19756570 2010
45
Novel mutations in Indian patients with autosomal recessive infantile malignant osteopetrosis. 61
20424301 2010
46
A single-center experience in 20 patients with infantile malignant osteopetrosis. 61
19507210 2009
47
Prospects for gene therapy of osteopetrosis. 61
19519360 2009
48
Osteomyelitis of the mandible secondary to infantile osteopetrosis: a case report. 61
19464639 2009
49
Low-dose busulphan conditioning and neonatal stem cell transplantation preserves vision and restores hematopoiesis in severe murine osteopetrosis. 61
19100677 2009
50
Rare gross deletion in T-cell immune regulator-1 gene in Iranian family with infantile malignant osteopetrosis. 61
18946580 2008

Variations for Autosomal Recessive Malignant Osteopetrosis

Expression for Autosomal Recessive Malignant Osteopetrosis

Search GEO for disease gene expression data for Autosomal Recessive Malignant Osteopetrosis.

Pathways for Autosomal Recessive Malignant Osteopetrosis

Pathways related to Autosomal Recessive Malignant Osteopetrosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.59 TNFSF11 TCIRG1

GO Terms for Autosomal Recessive Malignant Osteopetrosis

Cellular components related to Autosomal Recessive Malignant Osteopetrosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endosome membrane GO:0010008 8.62 TCIRG1 SNX10

Biological processes related to Autosomal Recessive Malignant Osteopetrosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cellular response to leukemia inhibitory factor GO:1990830 9.4 TNFSF11 SNX10
2 ossification GO:0001503 9.37 TNFSF11 TCIRG1
3 osteoclast differentiation GO:0030316 9.33 TNFSF11 TCIRG1 SNX10
4 calcium ion homeostasis GO:0055074 9.32 TNFSF11 SNX10
5 osteoclast proliferation GO:0002158 9.26 TNFSF11 TCIRG1
6 bone resorption GO:0045453 9.13 TNFSF11 TCIRG1 SNX10
7 tooth eruption GO:0044691 8.8 TNFSF11 TCIRG1 SNX10

Molecular functions related to Autosomal Recessive Malignant Osteopetrosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ATPase binding GO:0051117 8.62 TCIRG1 SNX10

Sources for Autosomal Recessive Malignant Osteopetrosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
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43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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