MCID: IMM204
MIFTS: 20

Immuno-Osseous Dysplasia

Categories: Blood diseases, Immune diseases, Rare diseases

Aliases & Classifications for Immuno-Osseous Dysplasia

MalaCards integrated aliases for Immuno-Osseous Dysplasia:

Name: Immuno-Osseous Dysplasia 59

Classifications:

Orphanet: 59  
Rare immunological diseases


External Ids:

UMLS via Orphanet 73 C0432218
Orphanet 59 ORPHA169349

Summaries for Immuno-Osseous Dysplasia

MalaCards based summary : Immuno-Osseous Dysplasia is related to focal segmental glomerulosclerosis and nephrotic syndrome. An important gene associated with Immuno-Osseous Dysplasia is SMARCAL1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A Like 1), and among its related pathways/superpathways is AMPK Enzyme Complex Pathway. Affiliated tissues include bone, kidney and bone marrow.

Related Diseases for Immuno-Osseous Dysplasia

Diseases related to Immuno-Osseous Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 60)
# Related Disease Score Top Affiliating Genes
1 focal segmental glomerulosclerosis 30.7 SMARCAL1 ALB
2 nephrotic syndrome 30.7 SMARCAL1 ALB
3 t cell deficiency 30.6 SMARCAL1 IL7R
4 vascular disease 29.2 NOS2 ELN ALB
5 schimke immunoosseous dysplasia 12.8
6 spondyloepiphyseal dysplasia with congenital joint dislocations 10.7
7 autosomal recessive disease 10.6
8 lymphopenia 10.5
9 arteriosclerosis 10.4
10 immune deficiency disease 10.3
11 dwarfism 10.3
12 odontochondrodysplasia 10.2
13 cartilage-hair hypoplasia 10.2
14 pulmonary hypertension 10.2
15 aphasia 10.2
16 thrombocytopenia 10.2
17 combined t cell and b cell immunodeficiency 10.2
18 cerebrovascular disease 10.2
19 end stage renal failure 10.2
20 immune defect due to absence of thymus 10.1 SMARCAL1 RMRP
21 atherosclerosis susceptibility 10.0
22 autoimmune disease 10.0
23 intussusception 10.0
24 lentigines 10.0
25 migraine with or without aura 1 10.0
26 lymphoma, hodgkin, classic 10.0
27 lymphoma, non-hodgkin, familial 10.0
28 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.0
29 membranous nephropathy 10.0
30 congenital hypothyroidism 10.0
31 tracheomalacia 10.0
32 lymphoproliferative syndrome 10.0
33 nephrocalcinosis 10.0
34 leiomyoma 10.0
35 diarrhea 10.0
36 squamous cell papilloma 10.0
37 hypothyroidism 10.0
38 thrombocytopenia due to platelet alloimmunization 10.0
39 ventricular septal defect 10.0
40 heart septal defect 10.0
41 generalized atherosclerosis 10.0
42 papilloma 10.0
43 glomerulonephritis 10.0
44 severe combined immunodeficiency 10.0
45 b-cell lymphoma 10.0
46 peritonitis 10.0
47 evans' syndrome 10.0
48 bronchiectasis 10.0
49 pulmonary emphysema 10.0
50 cartilage-hair hypoplasia - anauxetic dysplasia spectrum disorders 10.0

Graphical network of the top 20 diseases related to Immuno-Osseous Dysplasia:



Diseases related to Immuno-Osseous Dysplasia

Symptoms & Phenotypes for Immuno-Osseous Dysplasia

Drugs & Therapeutics for Immuno-Osseous Dysplasia

Search Clinical Trials , NIH Clinical Center for Immuno-Osseous Dysplasia

Genetic Tests for Immuno-Osseous Dysplasia

Anatomical Context for Immuno-Osseous Dysplasia

MalaCards organs/tissues related to Immuno-Osseous Dysplasia:

41
Bone, Kidney, Bone Marrow, T Cells

Publications for Immuno-Osseous Dysplasia

Articles related to Immuno-Osseous Dysplasia:

(show top 50) (show all 87)
# Title Authors PMID Year
1
Schimke Immuno-osseous Dysplasia: A Case Report. 38
31423066 2019
2
Reversible Cerebral Vasoconstriction Syndrome: A Novel Mechanism for Neurological Complications in Schimke Immuno-osseous Dysplasia. 38
30635151 2019
3
Whole Exome Sequencing Identified a Novel Biallelic SMARCAL1 Mutation in the Extremely Rare Disease SIOD. 38
31275356 2019
4
Regulation of ATM and ATR by SMARCAL1 and BRG1. 38
30317028 2018
5
Reversible cerebral vasoconstriction complicating cerebral atherosclerotic vascular disease in Schimke immuno-osseous dysplasia. 38
29978300 2018
6
Successful transcarotid transcatheter aortic valve replacement in a 34-kg patient with Schimke immuno-osseous dysplasia and severe biscuspid aortic stenosis. 38
29747711 2018
7
RecA-like domain 2 of DNA-dependent ATPase A domain, a SWI2/SNF2 protein, mediates conformational integrity and ATP hydrolysis. 38
29748240 2018
8
Early Onset Cerebral Infarction in Schimke Immuno-Osseous Dysplasia. 38
30026777 2018
9
Diffuse Carotid Arteriosclerosis and Stroke in a Patient With Schimke Immuno-osseous Dysplasia. 38
28412018 2017
10
Annealing helicase HARP closes RPA-stabilized DNA bubbles non-processively. 38
28334870 2017
11
Low renal but high extrarenal phenotype variability in Schimke immuno-osseous dysplasia. 38
28796785 2017
12
Eltrombopag (thrombopoietin-receptor agonist) and plasmapheresis as rescue therapy of acute post-renal transplant immune thrombocytopenia in a child with Schimke immuno-osseous dysplasia-case report. 38
27671102 2016
13
Chromatin changes in SMARCAL1 deficiency: A hypothesis for the gene expression alterations of Schimke immuno-osseous dysplasia. 38
27813696 2016
14
Increased Wnt and Notch signaling: a clue to the renal disease in Schimke immuno-osseous dysplasia? 38
27816064 2016
15
Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey. 38
26951490 2016
16
Transcriptional and posttranscriptional mechanisms contribute to the dysregulation of elastogenesis in Schimke immuno-osseous dysplasia. 38
26309238 2015
17
Lack of IL7Rα expression in T cells is a hallmark of T-cell immunodeficiency in Schimke immuno-osseous dysplasia (SIOD). 38
26499378 2015
18
Ligand-induced conformation changes drive ATP hydrolysis and function in SMARCAL1. 38
26195148 2015
19
Importance of neurologic and cutaneous signs in the diagnosis of Schimke immuno-osseous dysplasia. 38
27411420 2015
20
Medullary nephrocalcinosis in Schimke immuno-osseous dysplasia. 38
25868949 2015
21
Internal carotid artery surgical revascularization in a pediatric patient with Schimke immuno-osseous dysplasia. 38
25431900 2015
22
Tracheobronchial anomalies in a patient with Schimke immuno-osseous dysplasia (SIOD). 38
25428399 2015
23
Insights into the renal pathogenesis in Schimke immuno-osseous dysplasia: A renal histological characterization and expression analysis. 38
25319549 2015
24
[SMARCAL1 gene analysis of 2 Chinese Schimke immuno-osseous dysplasia children]. 38
25748404 2015
25
Towards unraveling the human tooth transcriptome: the dentome. 38
25849153 2015
26
Dental abnormalities and preventive oral care in Schimke immuno-osseous dysplasia. 38
24327104 2014
27
A structure-specific nucleic acid-binding domain conserved among DNA repair proteins. 38
24821763 2014
28
HARP preferentially co-purifies with RPA bound to DNA-PK and blocks RPA phosphorylation. 38
24565939 2014
29
A novel SMARCAL1 mutation associated with a mild phenotype of Schimke immuno-osseous dysplasia (SIOD). 38
24589093 2014
30
Bone marrow transplantation in Schimke immuno-osseous dysplasia. 38
23950031 2013
31
Integrated multiplex ligation dependent probe amplification (MLPA) assays for the detection of alterations in the HEXB, GM2A and SMARCAL1 genes to support the diagnosis of Morbus Sandhoff, M. Tay-Sachs variant AB and Schimke immuno-osseous dysplasia in humans. 38
23010210 2013
32
Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia? 38
22998683 2012
33
SMARCAL1 deficiency predisposes to non-Hodgkin lymphoma and hypersensitivity to genotoxic agents in vivo. 38
22888040 2012
34
Dental abnormalities in Schimke immuno-osseous dysplasia. 38
22699664 2012
35
Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression. 38
22378147 2012
36
Rituximab resistant evans syndrome and autoimmunity in Schimke immuno-osseous dysplasia. 38
21914180 2011
37
Non-hodgkin lymphoma in a child with schimke immuno-osseous dysplasia. 38
23359635 2011
38
Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature. 38
21217755 2011
39
Twenty-four-year-old male patient with infantile onset of Schimke immuno-osseous dysplasia. 38
20723108 2010
40
Novel compound mutations of SMARCAL1 associated with severe Schimke immuno-osseous dysplasia in a Chinese patient. 38
20179009 2010
41
SMARCAL1 and replication stress: an explanation for SIOD? 38
21327070 2010
42
Deficiency of smarcal1 causes cell cycle arrest and developmental abnormalities in zebrafish. 38
20036229 2010
43
Identification of SMARCAL1 as a component of the DNA damage response. 38
19841479 2009
44
Molecular assessment of thymic capacities in patients with Schimke immuno-osseous dysplasia. 38
19796992 2009
45
Improved outcome with immunosuppressive monotherapy after renal transplantation in Schimke-immuno-osseous dysplasia. 38
18785907 2009
46
SMARCAL1 mutations: a cause of prepubertal idiopathic steroid-resistant nephrotic syndrome. 38
19127206 2009
47
Schimke immuno-osseous dysplasia: SMARCAL1 loss-of-function and phenotypic correlation. 38
18805831 2009
48
HARP is an ATP-driven annealing helicase. 38
18974355 2008
49
Clinical and genetic distinction of Schimke immuno-osseous dysplasia and cartilage-hair hypoplasia. 38
18627050 2008
50
Neurologic phenotype of Schimke immuno-osseous dysplasia and neurodevelopmental expression of SMARCAL1. 38
18520775 2008

Variations for Immuno-Osseous Dysplasia

Expression for Immuno-Osseous Dysplasia

Search GEO for disease gene expression data for Immuno-Osseous Dysplasia.

Pathways for Immuno-Osseous Dysplasia

Pathways related to Immuno-Osseous Dysplasia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.86 SMARCAL1 NOS2

GO Terms for Immuno-Osseous Dysplasia

Sources for Immuno-Osseous Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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