MCID: ATS282
MIFTS: 45

Autosomal Recessive Malignant 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

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 1 and osteopetrosis, autosomal recessive 5. 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. The drugs Levoleucovorin and leucovorin have been mentioned in the context of this disorder. Affiliated tissues include eye, bone and bone marrow, and related phenotypes are macrocephaly and nystagmus

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 top 50) (show all 53)
# Related Disease Score Top Affiliating Genes
1 osteopetrosis, autosomal recessive 1 32.0 TCIRG1 CLCN7
2 osteopetrosis, autosomal recessive 5 31.8 TNFSF11 TCIRG1 CLCN7
3 osteopetrosis, autosomal recessive 4 31.5 TNFSF11 TCIRG1 CLCN7
4 bone disease 29.3 TNFSF11 CLCN7
5 osteopetrosis 29.1 TNFSF11 TCIRG1 SNX10 CLCN7
6 autosomal recessive disease 10.3
7 thrombocytopenia 10.3
8 yemenite deaf-blind hypopigmentation syndrome 10.2
9 graft-versus-host disease 10.2
10 clcn7-related osteopetrosis 10.2
11 branchiootic syndrome 1 10.1
12 pancytopenia 10.1
13 pathologic nystagmus 10.1
14 bone resorption disease 10.1
15 pulmonary hypertension, primary, 1 10.0
16 silver-russell syndrome 1 10.0
17 strabismus 10.0
18 myelofibrosis 10.0
19 3-methylglutaconic aciduria, type iii 10.0
20 juvenile myelomonocytic leukemia 10.0
21 choanal atresia, posterior 10.0
22 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
23 pulmonary hypertension 10.0
24 hypophosphatemia 10.0
25 hepatic veno-occlusive disease 10.0
26 osteomyelitis 10.0
27 osteomalacia 10.0
28 rickets 10.0
29 respiratory failure 10.0
30 leukemia 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 renal tubular acidosis 9.8 TCIRG1 CLCN7
41 odontochondrodysplasia 9.7 TNFSF11 CLCN7
42 osteopetrosis, autosomal recessive 2 9.6 TNFSF11 TCIRG1 CLCN7
43 osteopetrosis, autosomal dominant 2 9.6 TNFSF11 TCIRG1 CLCN7
44 osteopetrosis, autosomal recessive 7 9.6 TNFSF11 TCIRG1 CLCN7
45 osteopetrosis, autosomal recessive 6 9.6 TNFSF11 TCIRG1 CLCN7
46 pycnodysostosis 9.6 TNFSF11 TCIRG1 CLCN7
47 craniometaphyseal dysplasia, autosomal dominant 9.6 TNFSF11 TCIRG1 CLCN7
48 endosteal hyperostosis, autosomal dominant 9.6 TNFSF11 TCIRG1 CLCN7
49 bone remodeling disease 9.6 TNFSF11 TCIRG1 CLCN7
50 craniodiaphyseal dysplasia 9.5 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 43)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000256
2 nystagmus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000639
3 tremor 58 31 hallmark (90%) Very frequent (99-80%) HP:0001337
4 hydrocephalus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000238
5 hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000365
6 splenomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001744
7 hepatomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0002240
8 bowing of the long bones 58 31 hallmark (90%) Very frequent (99-80%) HP:0006487
9 recurrent respiratory infections 58 31 hallmark (90%) Very frequent (99-80%) HP:0002205
10 visual impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000505
11 abnormality of visual evoked potentials 58 31 hallmark (90%) Very frequent (99-80%) HP:0000649
12 anemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001903
13 abnormality of the metaphysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000944
14 reduced bone mineral density 58 31 hallmark (90%) Very frequent (99-80%) HP:0004349
15 growth delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001510
16 pallor 58 31 hallmark (90%) Very frequent (99-80%) HP:0000980
17 abnormality of temperature regulation 58 31 hallmark (90%) Very frequent (99-80%) HP:0004370
18 delayed eruption of teeth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000684
19 abnormality of the ribs 58 31 hallmark (90%) Very frequent (99-80%) HP:0000772
20 recurrent fractures 58 31 hallmark (90%) Very frequent (99-80%) HP:0002757
21 abnormality of epiphysis morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0005930
22 otitis media 58 31 hallmark (90%) Very frequent (99-80%) HP:0000388
23 narrow chest 58 31 hallmark (90%) Very frequent (99-80%) HP:0000774
24 craniosynostosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001363
25 bone pain 58 31 hallmark (90%) Very frequent (99-80%) HP:0002653
26 abnormal blistering of the skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0008066
27 lymphadenopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0002716
28 osteopetrosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0011002
29 optic nerve compression 58 31 hallmark (90%) Very frequent (99-80%) HP:0007807
30 abnormality of hair texture 58 31 hallmark (90%) Very frequent (99-80%) HP:0010719
31 premature loss of primary teeth 58 31 hallmark (90%) Very frequent (99-80%) HP:0006323
32 chronic rhinitis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002257
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 apnea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002104
37 abnormal pulmonary valve morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001641
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 arterial hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0002092
41 pulmonary artery stenosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0004415
42 abnormality of movement 58 Very frequent (99-80%)
43 abnormality of metabolism/homeostasis 58 Very frequent (99-80%)

MGI Mouse Phenotypes related to Autosomal Recessive Malignant Osteopetrosis:

46
# 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 9.26 CLCN7 SNX10 TCIRG1 TNFSF11
5 skeleton MP:0005390 8.92 CLCN7 SNX10 TCIRG1 TNFSF11

Drugs & Therapeutics for Autosomal Recessive Malignant Osteopetrosis

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Levoleucovorin Approved, Investigational Phase 1 68538-85-2 149436
2
leucovorin Approved Phase 1 58-05-9 6006

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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 Not yet recruiting NCT04525352 Phase 1

Search 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
Eye, Bone, Bone Marrow

Publications for Autosomal Recessive Malignant Osteopetrosis

Articles related to Autosomal Recessive Malignant Osteopetrosis:

(show top 50) (show all 90)
# 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
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
9
A phenocopy of CAII deficiency: a novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis. 6
12566520 2003
10
Albers-Schönberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene. 6
11741829 2001
11
The mutational spectrum of human malignant autosomal recessive osteopetrosis. 6
11532986 2001
12
Gene therapy for infantile malignant osteopetrosis: review of pre-clinical research and proof-of-concept for phenotypic reversal. 61
33575431 2021
13
Generation of gene-corrected functional osteoclasts from osteopetrotic induced pluripotent stem cells. 61
32414402 2020
14
V-ATPase a3 isoform mutations identified in osteopetrosis patients abolish its expression and disrupt osteoclast function. 61
32045577 2020
15
Malignant Infantile Osteopetrosis: A Case Report. 61
32015934 2020
16
Hematopoietic Stem Cell-Targeted Neonatal Gene Therapy with a Clinically Applicable Lentiviral Vector Corrects Osteopetrosis in oc/oc Mice. 61
31179768 2019
17
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
18
Targeting NSG Mice Engrafting Cells with a Clinically Applicable Lentiviral Vector Corrects Osteoclasts in Infantile Malignant Osteopetrosis. 61
28726516 2018
19
Successful hematopoietic stem cell transplantation for osteopetrosis using reduced intensity conditioning. 61
29469225 2018
20
[Identification of new mutations in TCIRG1 as a cause of infantile malignant osteopetrosis in two Mexican patients]. 61
29723947 2018
21
Ophthalmic phenotype of TCIRG1 gene mutations in Chinese infantile malignant osteopetrosis. 61
30539151 2018
22
Novel mutations of TCIRG1 cause a malignant and mild phenotype of autosomal recessive osteopetrosis (ARO) in four Chinese families. 61
28816234 2017
23
Coexisting variants in OSTM1 and MANEAL cause a complex neurodegenerative disorder with NBIA-like brain abnormalities. 61
28612835 2017
24
[Analysis of TCIRG1 gene mutation in a Chinese family affected with infantile malignant osteopetrosis]. 61
28604959 2017
25
Regulation and Function of Lentiviral Vector-Mediated TCIRG1 Expression in Osteoclasts from Patients with Infantile Malignant Osteopetrosis: Implications for Gene Therapy. 61
27541021 2016
26
Extending the Spectrum of Radiological Findings in Patients With Severe Osteopetrosis and Different Genetic Backgrounds. 61
26970326 2016
27
Identification and Characterization of Mutations in the CLCN7 Gene in a Taiwanese Patient with Infantile Malignant Osteopetrosis. 61
26365571 2016
28
Improved Outcomes of Hematopoietic Stem Cell Transplantation in Patients With Infantile Malignant Osteopetrosis Using Fludarabine-Based Conditioning. 61
26485304 2016
29
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
30
Unmistakable Morphology? Infantile Malignant Osteopetrosis Resembling Juvenile Myelomonocytic Leukemia in Infants. 61
25982139 2015
31
[Preimplantation genetic diagnosis of infantile malignant osteopetrosis in a Chinese family]. 61
26037338 2015
32
A fatal case of infantile malignant osteopetrosis complicated by pulmonary arterial hypertension after hematopoietic stem cell transplantation. 61
25504019 2014
33
Osteopetrosis mimicking juvenile myelomonocytic leukemia. 61
25335998 2014
34
Identification of novel mutation in autosomal recessive infantile malignant osteopetrosis. 61
24101165 2014
35
Lentiviral gene transfer of TCIRG1 into peripheral blood CD34(+) cells restores osteoclast function in infantile malignant osteopetrosis. 61
23907031 2013
36
Infantile malignant osteopetrosis. 61
23721911 2013
37
Severe neuronopathic autosomal recessive osteopetrosis due to homozygous deletions affecting OSTM1. 61
23685543 2013
38
Osteopetrosis mutation R444L causes endoplasmic reticulum retention and misprocessing of vacuolar H+-ATPase a3 subunit. 61
22685294 2012
39
Infantile malignant osteopetrosis: report of 2 cases with osteomyelitis of the jaws. 61
22828766 2012
40
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
41
Infantile malignant osteopetrosis: a rare cause of neonatal hypocalcemia. 61
23329773 2012
42
[Bilateral optic nerve decompression at infantile-malignant osteopetrosis and Silver-Russell-syndrome]. 61
21437846 2011
43
Novel mutation of TCIRG1 and clinical pictures of two infantile malignant osteopetrosis patients. 61
21042819 2011
44
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
45
Scarcity despite wealth: osteopetrorickets. 61
21175093 2010
46
[Genetic basis for skeletal disease. Molecular advances in sclerosing bone disorders]. 61
20675930 2010
47
Osteopetrorickets: infantile malignant osteopetrosis paradoxically complicated by rickets. 61
19756570 2010
48
Novel mutations in Indian patients with autosomal recessive infantile malignant osteopetrosis. 61
20424301 2010
49
A single-center experience in 20 patients with infantile malignant osteopetrosis. 61
19507210 2009
50
Prospects for gene therapy of osteopetrosis. 61
19519360 2009

Variations for Autosomal Recessive Malignant Osteopetrosis

ClinVar genetic disease variations for Autosomal Recessive Malignant Osteopetrosis:

6 (show top 50) (show all 328)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TCIRG1 NM_006019.4(TCIRG1):c.1331G>T (p.Arg444Leu) SNV Pathogenic 5464 rs137853151 11:67815139-67815139 11:68047672-68047672
2 TCIRG1 NM_006019.3(TCIRG1):c.649_674del (p.Met217Terfs) Deletion Pathogenic 5465 11:67811056-67811081 11:68043587-68043612
3 CLCN7 NM_001287.6(CLCN7):c.1663C>T (p.Gln555Ter) SNV Pathogenic 6860 rs121434432 16:1499283-1499283 16:1449282-1449282
4 CLCN7 NM_001287.6(CLCN7):c.2285G>A (p.Arg762Gln) SNV Pathogenic 6861 rs121434433 16:1497053-1497053 16:1447052-1447052
5 CLCN7 NM_001287.6(CLCN7):c.2297T>C (p.Leu766Pro) SNV Pathogenic 6862 rs121434434 16:1497041-1497041 16:1447040-1447040
6 CLCN7 NM_001287.6(CLCN7):c.781A>T (p.Ile261Phe) SNV Pathogenic 6865 rs121434436 16:1507296-1507296 16:1457295-1457295
7 TNFSF11 TNFSF11, 5-BP DEL, IVS7+4 Deletion Pathogenic 6973
8 TNFSF11 NM_003701.4(TNFSF11):c.596T>A (p.Met199Lys) SNV Pathogenic 6974 rs121909072 13:43180696-43180696 13:42606560-42606560
9 TNFSF11 NM_003701.4(TNFSF11):c.828_829del (p.Val277fs) Deletion Pathogenic 6975 rs863223288 13:43180928-43180929 13:42606792-42606793
10 CLCN7 NM_001287.6(CLCN7):c.2299C>T (p.Arg767Trp) SNV Pathogenic 6863 rs121434435 16:1497039-1497039 16:1447038-1447038
11 CLCN7 NM_001287.6(CLCN7):c.296A>G (p.Tyr99Cys) SNV Pathogenic 56890 rs387907576 16:1511461-1511461 16:1461460-1461460
12 CLCN7 NM_001287.6(CLCN7):c.643G>A (p.Gly215Arg) SNV Pathogenic 65635 rs397515539 16:1509140-1509140 16:1459139-1459139
13 TCIRG1 NM_006019.4(TCIRG1):c.922del (p.Gln308fs) Deletion Pathogenic 5459 rs1554996130 11:67811712-67811712 11:68044245-68044245
14 TCIRG1 NM_006019.4(TCIRG1):c.1392C>A (p.Cys464Ter) SNV Pathogenic 5460 rs137853149 11:67815200-67815200 11:68047733-68047733
15 TCIRG1 NM_006019.4(TCIRG1):c.1674G>A (p.Val558=) SNV Pathogenic 5461 rs745971874 11:67816548-67816548 11:68049081-68049081
16 SNX10 NM_001199835.1(SNX10):c.152G>A (p.Arg51Gln) SNV Pathogenic 40050 rs398123011 7:26404195-26404195 7:26364575-26364575
17 SNX10 NM_001199835.1(SNX10):c.46C>T (p.Arg16Ter) SNV Pathogenic 139565 rs587777490 7:26400616-26400616 7:26360996-26360996
18 TCIRG1 NM_006019.4(TCIRG1):c.630+2T>C SNV Pathogenic 551426 rs1392364437 11:67810966-67810966 11:68043499-68043499
19 TCIRG1 NM_006019.4(TCIRG1):c.2236C>T (p.Gln746Ter) SNV Pathogenic 553240 rs748659068 11:67817721-67817721 11:68050254-68050254
20 TCIRG1 NM_006019.4(TCIRG1):c.1276C>T (p.Arg426Ter) SNV Pathogenic 557398 rs1489993984 11:67815010-67815010 11:68047543-68047543
21 TCIRG1 NM_006019.4(TCIRG1):c.2236+1G>A SNV Pathogenic 558226 rs1475338876 11:67817722-67817722 11:68050255-68050255
22 CLCN7 NM_001287.6(CLCN7):c.2250+1G>T SNV Pathogenic 585308 rs1567263375 16:1497392-1497392 16:1447391-1447391
23 CLCN7 NM_001287.6(CLCN7):c.1617+119G>A SNV Pathogenic 827681 rs922106856 16:1500379-1500379 16:1450378-1450378
24 TCIRG1 NM_006019.4(TCIRG1):c.1114C>T (p.Gln372Ter) SNV Pathogenic 830066 rs776436008 11:67812518-67812518 11:68045051-68045051
25 TCIRG1 NM_006019.4(TCIRG1):c.553del (p.Leu185fs) Deletion Pathogenic 978470 11:67810886-67810886 11:68043419-68043419
26 TCIRG1 NM_006019.4(TCIRG1):c.1674-1G>A SNV Pathogenic 189246 rs139617644 11:67816547-67816547 11:68049080-68049080
27 TCIRG1 NM_006019.4(TCIRG1):c.2008C>T (p.Arg670Ter) SNV Pathogenic 551284 rs371263807 11:67817250-67817250 11:68049783-68049783
28 TCIRG1 NM_006019.4(TCIRG1):c.1213G>C (p.Gly405Arg) SNV Pathogenic/Likely pathogenic 552227 rs137853150 11:67814947-67814947 11:68047480-68047480
29 TCIRG1 NM_006019.4(TCIRG1):c.1213G>A (p.Gly405Arg) SNV Pathogenic/Likely pathogenic 5463 rs137853150 11:67814947-67814947 11:68047480-68047480
30 SNX10 NM_013322.3(SNX10):c.151C>T (p.Arg51Ter) SNV Likely pathogenic 804401 rs1353879401 7:26404194-26404194 7:26364574-26364574
31 TCIRG1 NM_006019.4(TCIRG1):c.205C>T (p.Gln69Ter) SNV Likely pathogenic 552024 rs1554995009 11:67810118-67810118 11:68042651-68042651
32 TCIRG1 NM_006019.4(TCIRG1):c.1118del (p.Gly373fs) Deletion Likely pathogenic 552720 rs1269558164 11:67812520-67812520 11:68045053-68045053
33 TCIRG1 NM_006019.4(TCIRG1):c.346C>T (p.Gln116Ter) SNV Likely pathogenic 552835 rs1338631330 11:67810259-67810259 11:68042792-68042792
34 TCIRG1 NM_006019.4(TCIRG1):c.807+1G>T SNV Likely pathogenic 553582 rs1458295257 11:67811375-67811375 11:68043908-68043908
35 TCIRG1 NM_006019.4(TCIRG1):c.-5+1G>T SNV Likely pathogenic 553850 rs917505107 11:67806587-67806587 11:68039120-68039120
36 TCIRG1 NM_006019.4(TCIRG1):c.242del (p.Pro81fs) Deletion Likely pathogenic 551450 rs1208311085 11:67810151-67810151 11:68042684-68042684
37 TCIRG1 NM_006019.4(TCIRG1):c.1555-2A>C SNV Likely pathogenic 551487 rs758977199 11:67816344-67816344 11:68048877-68048877
38 TCIRG1 NM_006019.4(TCIRG1):c.557_570del (p.Leu186fs) Deletion Likely pathogenic 551799 rs1554995522 11:67810885-67810898 11:68043418-68043431
39 TCIRG1 NM_006019.4(TCIRG1):c.979C>T (p.Arg327Ter) SNV Likely pathogenic 550832 rs749361897 11:67811770-67811770 11:68044303-68044303
40 TCIRG1 NM_006019.4(TCIRG1):c.1435_1438dup (p.Ala480fs) Duplication Likely pathogenic 550871 rs1554998061 11:67815241-67815242 11:68047774-68047775
41 TCIRG1 NM_006019.4(TCIRG1):c.1889_1890dup (p.Val631fs) Duplication Likely pathogenic 551059 rs1554999516 11:67817129-67817130 11:68049662-68049663
42 TCIRG1 NM_006019.4(TCIRG1):c.1559G>A (p.Trp520Ter) SNV Likely pathogenic 371557 rs1057517365 11:67816350-67816350 11:68048883-68048883
43 CLCN7 NM_001287.6(CLCN7):c.1682G>A (p.Arg561Gln) SNV Likely pathogenic 488379 rs757788894 16:1499082-1499082 16:1449081-1449081
44 TCIRG1 NM_006019.4(TCIRG1):c.690_706dup (p.Thr236fs) Duplication Likely pathogenic 557128 rs1554995706 11:67811094-67811095 11:68043627-68043628
45 TCIRG1 NM_006019.4(TCIRG1):c.479_480delinsT (p.Gly160fs) Indel Likely pathogenic 558012 rs1554995350 11:67810474-67810475 11:68043007-68043008
46 TCIRG1 NM_006019.4(TCIRG1):c.1887+1G>C SNV Likely pathogenic 558282 rs1554999205 11:67816762-67816762 11:68049295-68049295
47 TCIRG1 NM_006019.4(TCIRG1):c.503+1G>A SNV Likely pathogenic 558548 rs1554995381 11:67810499-67810499 11:68043032-68043032
48 TCIRG1 NM_006019.4(TCIRG1):c.480dup (p.Pro161fs) Duplication Likely pathogenic 556585 rs1554995341 11:67810469-67810470 11:68043002-68043003
49 TCIRG1 NM_006019.4(TCIRG1):c.1385dup (p.Asn462fs) Duplication Likely pathogenic 556717 rs1554997997 11:67815191-67815192 11:68047724-68047725
50 TCIRG1 NM_006019.4(TCIRG1):c.1305+2T>C SNV Likely pathogenic 557548 rs1554997818 11:67815041-67815041 11:68047574-68047574

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 ossification GO:0001503 9.4 TNFSF11 TCIRG1
2 cellular response to leukemia inhibitory factor GO:1990830 9.37 TNFSF11 SNX10
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
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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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