MCID: CLC009
MIFTS: 12

Clcn7-Related Osteopetrosis

Categories: Bone diseases

Aliases & Classifications for Clcn7-Related Osteopetrosis

MalaCards integrated aliases for Clcn7-Related Osteopetrosis:

Name: Clcn7-Related Osteopetrosis 24

Characteristics:

GeneReviews:

24
Penetrance Depending on the population and the pathogenic variants studied, penetrance ranges from 60% to 90% in families with adoii [bollerslev 1989, bénichou et al 2000, waguespack et al 2003].

Classifications:



Summaries for Clcn7-Related Osteopetrosis

MalaCards based summary : Clcn7-Related Osteopetrosis is related to endosteal hyperostosis, autosomal dominant and osteopetrosis. An important gene associated with Clcn7-Related Osteopetrosis is CLCN7 (Chloride Voltage-Gated Channel 7). Affiliated tissues include bone, brain and bone marrow.

GeneReviews: NBK1127

Related Diseases for Clcn7-Related Osteopetrosis

Diseases related to Clcn7-Related Osteopetrosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 16)
# Related Disease Score Top Affiliating Genes
1 endosteal hyperostosis, autosomal dominant 10.4
2 osteopetrosis 10.4
3 osteopetrosis, autosomal dominant 2 10.2
4 osteopetrosis, autosomal recessive 4 10.2
5 scoliosis 10.2
6 osteomyelitis 10.2
7 hydrocephalus 10.2
8 secondary hyperparathyroidism 10.2
9 hyperparathyroidism 10.2
10 facial paralysis 10.2
11 ankylosis 10.2
12 agammaglobulinemia 10.2
13 bone inflammation disease 10.2
14 congenital hydrocephalus 10.2
15 autosomal recessive malignant osteopetrosis 10.2
16 hematopoietic stem cell transplantation 10.2

Graphical network of the top 20 diseases related to Clcn7-Related Osteopetrosis:



Diseases related to Clcn7-Related Osteopetrosis

Symptoms & Phenotypes for Clcn7-Related Osteopetrosis

Drugs & Therapeutics for Clcn7-Related Osteopetrosis

Search Clinical Trials , NIH Clinical Center for Clcn7-Related Osteopetrosis

Genetic Tests for Clcn7-Related Osteopetrosis

Anatomical Context for Clcn7-Related Osteopetrosis

MalaCards organs/tissues related to Clcn7-Related Osteopetrosis:

41
Bone, Brain, Bone Marrow

Publications for Clcn7-Related Osteopetrosis

Articles related to Clcn7-Related Osteopetrosis:

(show top 50) (show all 65)
# Title Authors PMID Year
1
Improved Outcomes of Hematopoietic Stem Cell Transplantation in Patients With Infantile Malignant Osteopetrosis Using Fludarabine-Based Conditioning. 4
26485304 2016
2
Buried in the Middle but Guilty: Intronic Mutations in the TCIRG1 Gene Cause Human Autosomal Recessive Osteopetrosis. 4
25829125 2015
3
A new mutation in the KINDLIN-3 gene ablates integrin-dependent leukocyte, platelet, and osteoclast function in a patient with leukocyte adhesion deficiency-III. 4
25854317 2015
4
Hematopoietic stem cell transplantation for infantile osteopetrosis. 4
26012570 2015
5
As little as needed: the extraordinary case of a mild recessive osteopetrosis owing to a novel splicing hypomorphic mutation in the TCIRG1 gene. 4
24535816 2014
6
Exome sequencing identifies CTSK mutations in patients originally diagnosed as intermediate osteopetrosis. 4
24269275 2014
7
Osteopetrosis: genetics, treatment and new insights into osteoclast function. 4
23877423 2013
8
Severe neuronopathic autosomal recessive osteopetrosis due to homozygous deletions affecting OSTM1. 4
23685543 2013
9
SNX10 mutations define a subgroup of human autosomal recessive osteopetrosis with variable clinical severity. 4
23280965 2013
10
A novel autosomal recessive GJA1 missense mutation linked to Craniometaphyseal dysplasia. 4
23951358 2013
11
Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis. 4
22875837 2012
12
Denosumab for post-transplantation hypercalcemia in osteopetrosis. 4
23113501 2012
13
A homozygous contiguous gene deletion in chromosome 16p13.3 leads to autosomal recessive osteopetrosis in a Jordanian patient. 4
22847576 2012
14
An SNX10 mutation causes malignant osteopetrosis of infancy. 4
22499339 2012
15
ClC-7 is a slowly voltage-gated 2Cl(-)/1H(+)-exchanger and requires Ostm1 for transport activity. 4
21527911 2011
16
The G215R mutation in the Cl-/H+-antiporter ClC-7 found in ADO II osteopetrosis does not abolish function but causes a severe trafficking defect. 4
20830208 2010
17
Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations. 4
19953639 2010
18
Genetic analysis of autosomal recessive osteopetrosis in Chuvashiya: the unique splice site mutation in TCIRG1 gene spread by the founder effect. 4
19172990 2009
19
Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations. 4
18606301 2008
20
Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL. 4
17632511 2007
21
Molecular study of six families originating from the Middle-East and presenting with autosomal recessive osteopetrosis. 4
17400532 2007
22
Involvement of PLEKHM1 in osteoclastic vesicular transport and osteopetrosis in incisors absent rats and humans. 4
17404618 2007
23
Stem cell transplantation in children with infantile osteopetrosis is associated with a high incidence of VOD, which could be prevented with defibrotide. 4
16953210 2006
24
Disease status in autosomal dominant osteopetrosis type 2 is determined by osteoclastic properties. 4
16813529 2006
25
Mutations in OSTM1 (grey lethal) define a particularly severe form of autosomal recessive osteopetrosis with neural involvement. 4
16813530 2006
26
Clinical, genetic, and cellular analysis of 49 osteopetrotic patients: implications for diagnosis and treatment. 4
16118345 2006
27
ClC-7 requires Ostm1 as a beta-subunit to support bone resorption and lysosomal function. 4
16525474 2006
28
Malignant infantile osteopetrosis: dental effects in paediatric patients. Case reports. 4
16646644 2006
29
Carbonic anhydrase type II deficiency. 4
16265785 2005
30
Total joint arthroplasty in patients with osteopetrosis: a report of 5 cases and review of the literature. 4
16139724 2005
31
Chloride channel diseases resulting from impaired transepithelial transport or vesicular function. 4
16075045 2005
32
Otologic manifestations of malignant osteopetrosis. 4
16015181 2005
33
Loss of the chloride channel ClC-7 leads to lysosomal storage disease and neurodegeneration. 4
15706348 2005
34
Osteoclast diseases and dental abnormalities. 4
15721137 2005
35
Physiological functions of CLC Cl- channels gleaned from human genetic disease and mouse models. 4
15709978 2005
36
Severe pulmonary hypertension: a frequent complication of stem cell transplantation for malignant infantile osteopetrosis. 4
14675409 2004
37
Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis. 4
14584882 2003
38
Genetic regulation of osteoclast development and function. 4
12897775 2003
39
Chloride channel 7 (ClCN7) gene mutations and autosomal dominant osteopetrosis, type II. 4
12929941 2003
40
Osteopetrosis. 4
12772872 2003
41
Neurological aspects of osteopetrosis. 4
12662317 2003
42
The natural history of sclerosteosis. 4
12694228 2003
43
Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density. 4
12579474 2003
44
Chloride channel 7 (CLCN7) gene mutations in intermediate autosomal recessive osteopetrosis. 4
12522560 2003
45
Dental development after successful treatment of infantile osteopetrosis with bone marrow transplantation. 4
11960278 2002
46
Albers-Schönberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene. 4
11741829 2001
47
Mapping of autosomal dominant osteopetrosis type II (Albers-Schönberg disease) to chromosome 16p13.3. 4
11468688 2001
48
The mutational spectrum of human malignant autosomal recessive osteopetrosis. 4
11532986 2001
49
Metaphyseal dysplasia: a new autosomal dominant type in a large German kindred. 4
11343343 2001
50
Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia. 4
11326272 2001

Variations for Clcn7-Related Osteopetrosis

Expression for Clcn7-Related Osteopetrosis

Search GEO for disease gene expression data for Clcn7-Related Osteopetrosis.

Pathways for Clcn7-Related Osteopetrosis

GO Terms for Clcn7-Related Osteopetrosis

Sources for Clcn7-Related Osteopetrosis

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