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 58

Classifications:

Orphanet: 58  
Rare immunological diseases


External Ids:

UMLS via Orphanet 72 C0432218
Orphanet 58 ORPHA169349

Summaries for Immuno-Osseous Dysplasia

MalaCards based summary : Immuno-Osseous Dysplasia is related to t cell deficiency and pulmonary emphysema. An important gene associated with Immuno-Osseous Dysplasia is SMARCAL1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A Like 1). Affiliated tissues include t cells, heart and bone, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

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 89)
# Related Disease Score Top Affiliating Genes
1 t cell deficiency 30.7 SMARCAL1 IL7R
2 pulmonary emphysema 30.1 ELN ALB
3 peritonitis 29.6 NOS2 ALB
4 vascular disease 29.4 NOS2 ELN ALB
5 schimke immunoosseous dysplasia 12.8
6 spondyloepiphyseal dysplasia with congenital joint dislocations 10.7
7 nephrotic syndrome 10.7
8 autosomal recessive disease 10.6
9 focal segmental glomerulosclerosis 10.6
10 lymphopenia 10.5
11 arteriosclerosis 10.4
12 immune deficiency disease 10.3
13 dwarfism 10.3
14 odontochondrodysplasia 10.2
15 cartilage-hair hypoplasia 10.2
16 pulmonary hypertension 10.2
17 aphasia 10.2
18 thrombocytopenia 10.2
19 combined t cell and b cell immunodeficiency 10.2
20 cerebrovascular disease 10.2
21 end stage renal failure 10.2
22 idiopathic steroid-resistant nephrotic syndrome 10.1 SMARCAL1 ALB
23 polycystic kidney disease 4 10.1 ELN ALB
24 prolapse of urethra 10.1 ELN ALB
25 cardiomyopathy, familial hypertrophic, 20 10.1 ELN ALB
26 aortic valve insufficiency 10.1 ELN ALB
27 atrioventricular septal defect 10.1 SMARCAL1 ELN
28 mitral valve insufficiency 10.1 ELN ALB
29 endocardium disease 10.0 ELN ALB
30 atherosclerosis susceptibility 10.0
31 autoimmune disease 10.0
32 intussusception 10.0
33 lentigines 10.0
34 migraine with or without aura 1 10.0
35 lymphoma, hodgkin, classic 10.0
36 lymphoma, non-hodgkin, familial 10.0
37 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.0
38 membranous nephropathy 10.0
39 congenital hypothyroidism 10.0
40 tracheomalacia 10.0
41 lymphoproliferative syndrome 10.0
42 nephrocalcinosis 10.0
43 leiomyoma 10.0
44 diarrhea 10.0
45 squamous cell papilloma 10.0
46 hypothyroidism 10.0
47 thrombocytopenia due to platelet alloimmunization 10.0
48 ventricular septal defect 10.0
49 heart septal defect 10.0
50 generalized atherosclerosis 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

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

26 (show all 16)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.55 NOS2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.55 NOS2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.55 NOS2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-123 9.55 NOS2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-143 9.55 IL7R
6 Increased shRNA abundance (Z-score > 2) GR00366-A-189 9.55 IL7R
7 Increased shRNA abundance (Z-score > 2) GR00366-A-197 9.55 IL7R NOS2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-2 9.55 IL7R
9 Increased shRNA abundance (Z-score > 2) GR00366-A-26 9.55 IL7R
10 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.55 IL7R
11 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.55 NOS2
12 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.55 NOS2
13 Increased shRNA abundance (Z-score > 2) GR00366-A-77 9.55 IL7R
14 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.55 NOS2
15 Increased shRNA abundance (Z-score > 2) GR00366-A-90 9.55 NOS2
16 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.55 NOS2

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:

40
T Cells, Heart, Bone, Kidney, B Cells, Bone Marrow, Brain

Publications for Immuno-Osseous Dysplasia

Articles related to Immuno-Osseous Dysplasia:

(show top 50) (show all 89)
# Title Authors PMID Year
1
[SMARCAL1, roles and mechanisms in genome stability maintenance]. 61
31857280 2019
2
Inducible SMARCAL1 knockdown in iPSC reveals a link between replication stress and altered expression of master differentiation genes. 61
31515241 2019
3
Schimke Immuno-osseous Dysplasia: A Case Report. 61
31423066 2019
4
Reversible Cerebral Vasoconstriction Syndrome: A Novel Mechanism for Neurological Complications in Schimke Immuno-osseous Dysplasia. 61
30635151 2019
5
Whole Exome Sequencing Identified a Novel Biallelic SMARCAL1 Mutation in the Extremely Rare Disease SIOD. 61
31275356 2019
6
Regulation of ATM and ATR by SMARCAL1 and BRG1. 61
30317028 2018
7
Reversible cerebral vasoconstriction complicating cerebral atherosclerotic vascular disease in Schimke immuno-osseous dysplasia. 61
29978300 2018
8
Successful transcarotid transcatheter aortic valve replacement in a 34-kg patient with Schimke immuno-osseous dysplasia and severe biscuspid aortic stenosis. 61
29747711 2018
9
RecA-like domain 2 of DNA-dependent ATPase A domain, a SWI2/SNF2 protein, mediates conformational integrity and ATP hydrolysis. 61
29748240 2018
10
Early Onset Cerebral Infarction in Schimke Immuno-Osseous Dysplasia. 61
30026777 2018
11
Diffuse Carotid Arteriosclerosis and Stroke in a Patient With Schimke Immuno-osseous Dysplasia. 61
28412018 2017
12
Annealing helicase HARP closes RPA-stabilized DNA bubbles non-processively. 61
28334870 2017
13
Low renal but high extrarenal phenotype variability in Schimke immuno-osseous dysplasia. 61
28796785 2017
14
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. 61
27671102 2016
15
Chromatin changes in SMARCAL1 deficiency: A hypothesis for the gene expression alterations of Schimke immuno-osseous dysplasia. 61
27813696 2016
16
Increased Wnt and Notch signaling: a clue to the renal disease in Schimke immuno-osseous dysplasia? 61
27816064 2016
17
Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey. 61
26951490 2016
18
Transcriptional and posttranscriptional mechanisms contribute to the dysregulation of elastogenesis in Schimke immuno-osseous dysplasia. 61
26309238 2015
19
Lack of IL7Rα expression in T cells is a hallmark of T-cell immunodeficiency in Schimke immuno-osseous dysplasia (SIOD). 61
26499378 2015
20
Ligand-induced conformation changes drive ATP hydrolysis and function in SMARCAL1. 61
26195148 2015
21
Importance of neurologic and cutaneous signs in the diagnosis of Schimke immuno-osseous dysplasia. 61
27411420 2015
22
Medullary nephrocalcinosis in Schimke immuno-osseous dysplasia. 61
25868949 2015
23
Tracheobronchial anomalies in a patient with Schimke immuno-osseous dysplasia (SIOD). 61
25428399 2015
24
Internal carotid artery surgical revascularization in a pediatric patient with Schimke immuno-osseous dysplasia. 61
25431900 2015
25
[SMARCAL1 gene analysis of 2 Chinese Schimke immuno-osseous dysplasia children]. 61
25748404 2015
26
Towards unraveling the human tooth transcriptome: the dentome. 61
25849153 2015
27
Insights into the renal pathogenesis in Schimke immuno-osseous dysplasia: A renal histological characterization and expression analysis. 61
25319549 2015
28
Dental abnormalities and preventive oral care in Schimke immuno-osseous dysplasia. 61
24327104 2014
29
HARP preferentially co-purifies with RPA bound to DNA-PK and blocks RPA phosphorylation. 61
24565939 2014
30
A structure-specific nucleic acid-binding domain conserved among DNA repair proteins. 61
24821763 2014
31
A novel SMARCAL1 mutation associated with a mild phenotype of Schimke immuno-osseous dysplasia (SIOD). 61
24589093 2014
32
Bone marrow transplantation in Schimke immuno-osseous dysplasia. 61
23950031 2013
33
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. 61
23010210 2013
34
Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia? 61
22998683 2012
35
SMARCAL1 deficiency predisposes to non-Hodgkin lymphoma and hypersensitivity to genotoxic agents in vivo. 61
22888040 2012
36
Dental abnormalities in Schimke immuno-osseous dysplasia. 61
22699664 2012
37
Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression. 61
22378147 2012
38
Rituximab resistant evans syndrome and autoimmunity in Schimke immuno-osseous dysplasia. 61
21914180 2011
39
Non-hodgkin lymphoma in a child with schimke immuno-osseous dysplasia. 61
23359635 2011
40
Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature. 61
21217755 2011
41
Twenty-four-year-old male patient with infantile onset of Schimke immuno-osseous dysplasia. 61
20723108 2010
42
SMARCAL1 and replication stress: an explanation for SIOD? 61
21327070 2010
43
Novel compound mutations of SMARCAL1 associated with severe Schimke immuno-osseous dysplasia in a Chinese patient. 61
20179009 2010
44
Deficiency of smarcal1 causes cell cycle arrest and developmental abnormalities in zebrafish. 61
20036229 2010
45
Molecular assessment of thymic capacities in patients with Schimke immuno-osseous dysplasia. 61
19796992 2009
46
Identification of SMARCAL1 as a component of the DNA damage response. 61
19841479 2009
47
Improved outcome with immunosuppressive monotherapy after renal transplantation in Schimke-immuno-osseous dysplasia. 61
18785907 2009
48
SMARCAL1 mutations: a cause of prepubertal idiopathic steroid-resistant nephrotic syndrome. 61
19127206 2009
49
Schimke immuno-osseous dysplasia: SMARCAL1 loss-of-function and phenotypic correlation. 61
18805831 2009
50
HARP is an ATP-driven annealing helicase. 61
18974355 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

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
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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