MCID: ATS282
MIFTS: 40

Autosomal Recessive Malignant Osteopetrosis

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

Aliases & Classifications for Autosomal Recessive Malignant Osteopetrosis

Summaries for Autosomal Recessive Malignant Osteopetrosis

MalaCards based summary : Autosomal Recessive Malignant Osteopetrosis, also known as infantile malignant osteopetrosis, is related to osteopetrosis 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 are Ion channel transport and Rheumatoid arthritis. Affiliated tissues include bone, skin and eye, and related phenotypes are hydrocephalus and macrocephaly

Related Diseases for Autosomal Recessive Malignant Osteopetrosis

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:

59 32 (show all 44)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hydrocephalus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000238
2 macrocephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000256
3 hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000365
4 otitis media 59 32 hallmark (90%) Very frequent (99-80%) HP:0000388
5 visual impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000505
6 nystagmus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000639
7 abnormality of visual evoked potentials 59 32 hallmark (90%) Very frequent (99-80%) HP:0000649
8 delayed eruption of teeth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000684
9 abnormality of the ribs 59 32 hallmark (90%) Very frequent (99-80%) HP:0000772
10 narrow chest 59 32 hallmark (90%) Very frequent (99-80%) HP:0000774
11 abnormality of the metaphysis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000944
12 bruising susceptibility 59 32 occasional (7.5%) Occasional (29-5%) HP:0000978
13 pallor 59 32 hallmark (90%) Very frequent (99-80%) HP:0000980
14 tremor 59 32 hallmark (90%) Very frequent (99-80%) HP:0001337
15 craniosynostosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001363
16 growth delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001510
17 splenomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001744
18 anemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001903
19 pulmonary arterial hypertension 59 32 occasional (7.5%) Occasional (29-5%) HP:0002092
20 apnea 59 32 occasional (7.5%) Occasional (29-5%) HP:0002104
21 hypophosphatemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002148
22 recurrent respiratory infections 59 32 hallmark (90%) Very frequent (99-80%) HP:0002205
23 hepatomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0002240
24 chronic rhinitis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002257
25 bone pain 59 32 hallmark (90%) Very frequent (99-80%) HP:0002653
26 lymphadenopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0002716
27 recurrent fractures 59 32 hallmark (90%) Very frequent (99-80%) HP:0002757
28 hypocalcemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002901
29 reduced bone mineral density 59 32 hallmark (90%) Very frequent (99-80%) HP:0004349
30 abnormality of temperature regulation 59 32 hallmark (90%) Very frequent (99-80%) HP:0004370
31 pulmonary artery stenosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0004415
32 abnormality of epiphysis morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0005930
33 premature loss of primary teeth 59 32 hallmark (90%) Very frequent (99-80%) HP:0006323
34 bowing of the long bones 59 32 hallmark (90%) Very frequent (99-80%) HP:0006487
35 cranial nerve paralysis 59 32 occasional (7.5%) Occasional (29-5%) HP:0006824
36 optic nerve compression 59 32 hallmark (90%) Very frequent (99-80%) HP:0007807
37 abnormal blistering of the skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0008066
38 opsoclonus 59 32 hallmark (90%) Very frequent (99-80%) HP:0010543
39 abnormality of hair texture 59 32 hallmark (90%) Very frequent (99-80%) HP:0010719
40 osteopetrosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0011002
41 abnormality of the pulmonary valve 59 Occasional (29-5%)
42 abnormality of metabolism/homeostasis 59 Very frequent (99-80%)
43 abnormality of movement 59 Very frequent (99-80%)
44 abnormal pulmonary valve morphology 32 occasional (7.5%) HP:0001641

MGI Mouse Phenotypes related to Autosomal Recessive Malignant Osteopetrosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.67 CLCN7 SNX10 TCIRG1 TNFSF11
2 growth/size/body region MP:0005378 9.62 CLCN7 SNX10 TCIRG1 TNFSF11
3 hematopoietic system MP:0005397 9.56 CLCN7 SNX10 TCIRG1 TNFSF11
4 immune system MP:0005387 9.46 TCIRG1 TNFSF11 CLCN7 SNX10
5 limbs/digits/tail MP:0005371 9.13 CLCN7 TCIRG1 TNFSF11
6 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:

41
Bone, Skin, Eye, T Cells, Bone Marrow

Publications for Autosomal Recessive Malignant Osteopetrosis

Articles related to Autosomal Recessive Malignant Osteopetrosis:

(show all 29)
# Title Authors Year
1
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. ( 29926385 )
2018
2
Targeting NSG Mice Engrafting Cells with a Clinically Applicable Lentiviral Vector Corrects Osteoclasts in Infantile Malignant Osteopetrosis. ( 28726516 )
2017
3
[Analysis of TCIRG1 gene mutation in a Chinese family affected with infantile malignant osteopetrosis]. ( 28604959 )
2017
4
Regulation and Function of Lentiviral Vector-Mediated TCIRG1 Expression in Osteoclasts from Patients with Infantile Malignant Osteopetrosis: Implications for Gene Therapy. ( 27541021 )
2016
5
Improved Outcomes of Hematopoietic Stem Cell Transplantation in Patients With Infantile Malignant Osteopetrosis Using Fludarabine-Based Conditioning. ( 26485304 )
2015
6
Identification and Characterization of Mutations in the CLCN7 Gene in a Taiwanese Patient with Infantile Malignant Osteopetrosis. ( 26365571 )
2015
7
A novel mutation and a known mutation in the CLCN7 gene associated with relatively stable infantile malignant osteopetrosis in a Chinese patient. ( 26477479 )
2015
8
Diagnosis: Infantile Malign Osteopetrosis. ( 25330538 )
2014
9
A fatal case of infantile malignant osteopetrosis complicated by pulmonary arterial hypertension after hematopoietic stem cell transplantation. ( 25504019 )
2014
10
Identification of Novel Mutation in Autosomal Recessive Infantile Malignant Osteopetrosis. ( 24101165 )
2013
11
Lentiviral gene transfer of TCIRG1 into peripheral blood CD34(+) cells restores osteoclast function in infantile malignant osteopetrosis. ( 23907031 )
2013
12
Infantile malignant osteopetrosis. ( 23721911 )
2013
13
Infantile malignant osteopetrosis: a rare cause of neonatal hypocalcemia. ( 23329773 )
2012
14
Infantile malignant osteopetrosis: report of 2 cases with osteomyelitis of the jaws. ( 22828766 )
2012
15
Novel mutation of TCIRG1 and clinical pictures of two infantile malignant osteopetrosis patients. ( 21042819 )
2011
16
Novel mutations in Indian patients with autosomal recessive infantile malignant osteopetrosis. ( 20424301 )
2010
17
Osteopetrorickets: infantile malignant osteopetrosis paradoxically complicated by rickets. ( 19756570 )
2010
18
A single-center experience in 20 patients with infantile malignant osteopetrosis. ( 19507210 )
2009
19
Rare gross deletion in T-cell immune regulator-1 gene in Iranian family with infantile malignant osteopetrosis. ( 18946580 )
2008
20
Infantile autosomal-recessive malignant osteopetrosis. ( 17592489 )
2007
21
Chloride channel CICN7 mutations in a Korean patient with infantile malignant osteopetrosis initially presenting with neonatal thrombocytopenia. ( 15116126 )
2004
22
Hematological defects in the oc/oc mouse, a model of infantile malignant osteopetrosis. ( 15284856 )
2004
23
Osteoclast morphology in autosomal recessive malignant osteopetrosis due to a TCIRG1 gene mutation. ( 12687885 )
2003
24
Novel mutations in the TCIRG1 gene encoding the a3 subunit of the vacuolar proton pump in patients affected by infantile malignant osteopetrosis. ( 12552563 )
2003
25
Novel mutations in the a3 subunit of vacuolar H(+)-adenosine triphosphatase in a Japanese patient with infantile malignant osteopetrosis. ( 11856654 )
2002
26
Mutations in the a3 subunit of the vacuolar H(+)-ATPase cause infantile malignant osteopetrosis. ( 10942435 )
2000
27
Distal phalangeal resorption in an adult with infantile malignant osteopetrosis: a case report. ( 9523972 )
1998
28
Bone marrow transplantation for infantile malignant osteopetrosis. ( 7583393 )
1995
29
Infantile malignant osteopetrosis presenting as bilateral choanal atresia: Report of two cases. ( 17588000 )
1993

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
Show member pathways
11.45 CLCN7 TCIRG1
2 10.58 TCIRG1 TNFSF11

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 lysosomal membrane GO:0005765 8.96 CLCN7 TCIRG1
2 endosome membrane GO:0010008 8.62 SNX10 TCIRG1

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

# Name GO ID Score Top Affiliating Genes
1 ion transmembrane transport GO:0034220 9.16 CLCN7 TCIRG1
2 cellular response to leukemia inhibitory factor GO:1990830 8.96 SNX10 TNFSF11
3 osteoclast differentiation GO:0030316 8.62 SNX10 TNFSF11

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 SNX10 TCIRG1

Sources for Autosomal Recessive Malignant Osteopetrosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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