SIOD
MCID: SCH016
MIFTS: 47

Schimke Immunoosseous Dysplasia (SIOD) malady

Categories: Genetic diseases, Rare diseases, Nephrological diseases, Bone diseases, Fetal diseases, Blood diseases, Oral diseases, Immune diseases

Aliases & Classifications for Schimke Immunoosseous Dysplasia

Aliases & Descriptions for Schimke Immunoosseous Dysplasia:

Name: Schimke Immunoosseous Dysplasia 54 12 23 50 24 25 66 13 52 42
Schimke Immuno-Osseous Dysplasia 12 25 56 66 14
Immunoosseous Dysplasia, Schimke Type 54 50 25 66
Schimke Syndrome 12 50 56
Siod 50 25 66
Immunoosseous Dysplasia Schimke Type 12 29
Spondylo-Epiphyseal Dysplasia, Autosomal Recessive 24
Spondyloepiphyseal Dysplasia - Nephrotic Syndrome 12
Spondyloepiphyseal Dysplasia, Autosomal Recessive 24
Spondyloepiphyseal Dysplasia Nephrotic Syndrome 50
Spondyloepiphyseal Dysplasia-Nephrotic Syndrome 56

Characteristics:

Orphanet epidemiological data:

56
schimke immuno-osseous dysplasia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: adolescent,early childhood,late childhood;

HPO:

32
schimke immunoosseous dysplasia:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 242900
Disease Ontology 12 DOID:0060490
Orphanet 56 ORPHA1830
MESH via Orphanet 43 C536629
UMLS via Orphanet 70 C0877024
ICD10 via Orphanet 34 Q77.7
MedGen 40 C0877024
UMLS 69 C0877024

Summaries for Schimke Immunoosseous Dysplasia

NIH Rare Diseases : 50 schimke immunoosseous dysplasia (siod) is a condition characterized by short stature, kidney disease, and a weakened immune system.   growth failure is often the first sign of this condition.  other features are usually detected in the evaluation for growth failure or in the following years.  the severity of siod ranges from an infantile or severe early-onset form to a juvenile or milder late-onset form.  complications of the severe form of siod can include strokes, severe opportunistic infections, bone marrow failure, and kidney failure that can be life-threatening early in life. people with milder disease have survived to adulthood if their kidney disease is managed. this condition is inherited in an autosomal recessive pattern.  mutations in the smarcal1 gene increase the risk to develop schimke immunoosseous dysplasia.  however, in order for people with smarcal1 gene mutations to develop symptoms of schimke immunoosseous dysplasia, other currently unknown genetic or environmental factors must also be present.  last updated: 10/20/2010

MalaCards based summary : Schimke Immunoosseous Dysplasia, also known as schimke immuno-osseous dysplasia, is related to nephrotic syndrome and pulmonary embolism, and has symptoms including short neck, abnormality of epiphysis morphology and hyperlordosis. An important gene associated with Schimke Immunoosseous Dysplasia is SMARCAL1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A Like 1), and among its related pathways/superpathways are PEDF Induced Signaling and Chromatin Regulation / Acetylation. Affiliated tissues include bone, kidney and t cells, and related phenotypes are cellular and renal/urinary system

Disease Ontology : 12 A spondyloepiphyseal dysplasia characterized by short stature with hyperpigmented macules, unusual facies, proteinuria with progressive renal failure, lymphopenia with recurrent infections, and cerebral ischaemia. It has material basis in mutations in the SMARCAL1 gene.

Genetics Home Reference : 25 Schimke immuno-osseous dysplasia is a condition characterized by short stature, kidney disease, and a weakened immune system. In people with this condition, short stature is caused by flattened spinal bones (vertebrae), resulting in a shortened neck and trunk. Adult height is typically between 3 and 5 feet. Kidney (renal) disease often leads to life-threatening renal failure and end-stage renal disease (ESRD). Affected individuals also have a shortage of certain immune system cells called T cells. T cells identify foreign substances and defend the body against infection. A shortage of T cells causes a person to be more susceptible to illness.

UniProtKB/Swiss-Prot : 66 Schimke immuno-osseous dysplasia: An autosomal recessive pleiotropic disorder characterized by spondyloepiphyseal dysplasia, renal dysfunction and immunodeficiency. Arteriosclerosis may also occur in some case.

Description from OMIM: 242900
GeneReviews: NBK1376

Related Diseases for Schimke Immunoosseous Dysplasia

Graphical network of the top 20 diseases related to Schimke Immunoosseous Dysplasia:



Diseases related to Schimke Immunoosseous Dysplasia

Symptoms & Phenotypes for Schimke Immunoosseous Dysplasia

Symptoms by clinical synopsis from OMIM:

242900

Clinical features from OMIM:

242900

Human phenotypes related to Schimke Immunoosseous Dysplasia:

56 32 (show all 48)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short neck 56 32 Very frequent (99-80%) HP:0000470
2 abnormality of epiphysis morphology 56 32 Very frequent (99-80%) HP:0005930
3 hyperlordosis 56 32 Very frequent (99-80%) HP:0003307
4 depressed nasal bridge 56 32 Very frequent (99-80%) HP:0005280
5 proteinuria 56 32 Very frequent (99-80%) HP:0000093
6 anemia 56 32 Very frequent (99-80%) HP:0001903
7 ovoid vertebral bodies 56 32 Very frequent (99-80%) HP:0003300
8 disproportionate short-trunk short stature 56 32 Very frequent (99-80%) HP:0003521
9 platyspondyly 56 32 Very frequent (99-80%) HP:0000926
10 microdontia 56 32 Very frequent (99-80%) HP:0000691
11 melanocytic nevus 56 32 Very frequent (99-80%) HP:0000995
12 thrombocytopenia 56 32 Very frequent (99-80%) HP:0001873
13 nephrotic syndrome 56 32 Very frequent (99-80%) HP:0000100
14 glomerulopathy 56 32 Very frequent (99-80%) HP:0100820
15 hip dislocation 56 32 Very frequent (99-80%) HP:0002827
16 intrauterine growth retardation 56 32 Very frequent (99-80%) HP:0001511
17 lymphopenia 56 32 Very frequent (99-80%) HP:0001888
18 cellular immunodeficiency 56 32 Very frequent (99-80%) HP:0005374
19 multiple cafe-au-lait spots 56 32 Frequent (79-30%) HP:0007565
20 bulbous nose 56 32 Very frequent (99-80%) HP:0000414
21 abnormality of t cells 56 32 Very frequent (99-80%) HP:0002843
22 waddling gait 32 HP:0002515
23 hypertension 32 HP:0000822
24 osteopenia 32 HP:0000938
25 coarse hair 32 HP:0002208
26 renal insufficiency 32 HP:0000083
27 transient ischemic attack 32 HP:0002326
28 opacification of the corneal stroma 32 HP:0007759
29 abnormal form of the vertebral bodies 56 Very frequent (99-80%)
30 myopia 32 HP:0000545
31 recurrent infections 32 HP:0002719
32 fine hair 32 HP:0002213
33 neutropenia 32 HP:0001875
34 hypermelanotic macule 32 HP:0001034
35 high pitched voice 32 HP:0001620
36 motor delay 32 HP:0001270
37 astigmatism 32 HP:0000483
38 lumbar hyperlordosis 32 HP:0002938
39 shallow acetabular fossae 32 HP:0003182
40 abnormal immunoglobulin level 32 HP:0010701
41 arteriosclerosis 32 HP:0002634
42 protuberant abdomen 32 HP:0001538
43 thyroid-stimulating hormone excess 32 HP:0002925
44 focal segmental glomerulosclerosis 32 HP:0000097
45 spondyloepiphyseal dysplasia 32 HP:0002655
46 thoracic kyphosis 32 HP:0002942
47 hypoplasia of the capital femoral epiphysis 32 HP:0003090
48 lateral displacement of the femoral head 32 HP:0006453

MGI Mouse Phenotypes related to Schimke Immunoosseous Dysplasia:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.55 ASTN1 HELLS SMARCA2 SMARCA4 SMARCAL1
2 renal/urinary system MP:0005367 9.26 HELLS SMARCA2 SMARCA4 SMARCAL1
3 skeleton MP:0005390 8.92 HELLS SMARCA2 SMARCA4 SMARCAL1

Drugs & Therapeutics for Schimke Immunoosseous Dysplasia

Search Clinical Trials , NIH Clinical Center for Schimke Immunoosseous Dysplasia

Cochrane evidence based reviews: schimke immunoosseous dysplasia

Genetic Tests for Schimke Immunoosseous Dysplasia

Genetic tests related to Schimke Immunoosseous Dysplasia:

id Genetic test Affiliating Genes
1 Schimke Immunoosseous Dysplasia 29 24 SMARCAL1

Anatomical Context for Schimke Immunoosseous Dysplasia

MalaCards organs/tissues related to Schimke Immunoosseous Dysplasia:

39
Bone, Kidney, T Cells, Bone Marrow, Thyroid

Publications for Schimke Immunoosseous Dysplasia

Articles related to Schimke Immunoosseous Dysplasia:

(show all 15)
id Title Authors Year
1
A novel SMARCAL1 missense mutation that affects splicing in a severely affected Schimke immunoosseous dysplasia patient. ( 27282802 )
2016
2
A novel splice site mutation in SMARCAL1 results in aberrant exon definition in a child with schimke immunoosseous dysplasia. ( 25943327 )
2015
3
Schimke Immunoosseous Dysplasia associated with undifferentiated carcinoma and a novel SMARCAL1 mutation in a child. ( 23630135 )
2013
4
Schimke immunoosseous dysplasia: defining skeletal features. ( 20013129 )
2010
5
Schimke immunoosseous dysplasia: suggestions of genetic diversity. ( 17089404 )
2007
6
Pulmonary embolism--a rare complication of Schimke immunoosseous dysplasia. ( 17195070 )
2007
7
Mitochondrial function in schimke-immunoosseous dysplasia. ( 16167201 )
2005
8
Clinical quiz. Schimke immunoosseous dysplasia syndrome (SIOD). ( 11465814 )
2001
9
Mental retardation and seizure disorder in Schimke immunoosseous dysplasia. ( 10710226 )
2000
10
Autoimmune enteropathy in Schimke immunoosseous dysplasia. ( 9632175 )
1998
11
Schimke immunoosseous dysplasia complicated by moyamoya phenomenon. ( 9674900 )
1998
12
Spondyloepiphyseal dysplasia with nephrotic syndrome (Schimke immunoosseous dysplasia). ( 9039659 )
1997
13
Spondyloepiphyseal dysplasia with nephrotic syndrome (Schimke immunoosseous dysplasia). ( 8209884 )
1994
14
Juvenile variant of Schimke immunoosseous dysplasia. ( 8209883 )
1994
15
Schimke Immunoosseous Dysplasia ( 20301550 )
1993

Variations for Schimke Immunoosseous Dysplasia

UniProtKB/Swiss-Prot genetic disease variations for Schimke Immunoosseous Dysplasia:

66 (show all 11)
id Symbol AA change Variation ID SNP ID
1 SMARCAL1 p.Ala468Pro VAR_021370
2 SMARCAL1 p.Ile548Asn VAR_021371 rs119473036
3 SMARCAL1 p.Ser579Leu VAR_021372
4 SMARCAL1 p.Arg586Trp VAR_021373 rs119473038
5 SMARCAL1 p.Arg644Trp VAR_021374
6 SMARCAL1 p.Arg645Cys VAR_021375 rs119473037
7 SMARCAL1 p.Lys647Gln VAR_021376
8 SMARCAL1 p.Lys647Thr VAR_021377
9 SMARCAL1 p.Thr705Ile VAR_021379 rs200644381
10 SMARCAL1 p.Arg764Gln VAR_021381 rs267607071
11 SMARCAL1 p.Arg820His VAR_021382 rs200666300

ClinVar genetic disease variations for Schimke Immunoosseous Dysplasia:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 SMARCAL1 NM_014140.3(SMARCAL1): c.2542G> T (p.Glu848Ter) single nucleotide variant Pathogenic rs119473033 GRCh37 Chromosome 2, 217342939: 217342939
2 SMARCAL1 NM_014140.3(SMARCAL1): c.49C> T (p.Arg17Ter) single nucleotide variant Pathogenic rs119473034 GRCh37 Chromosome 2, 217279476: 217279476
3 SMARCAL1 NM_014140.3(SMARCAL1): c.100C> T (p.Gln34Ter) single nucleotide variant Pathogenic rs119473035 GRCh37 Chromosome 2, 217279527: 217279527
4 SMARCAL1 NM_014140.3(SMARCAL1): c.1643T> A (p.Ile548Asn) single nucleotide variant Pathogenic rs119473036 GRCh37 Chromosome 2, 217300218: 217300218
5 SMARCAL1 NM_014140.3(SMARCAL1): c.1933C> T (p.Arg645Cys) single nucleotide variant Pathogenic rs119473037 GRCh37 Chromosome 2, 217315650: 217315650
6 SMARCAL1 NM_014140.3(SMARCAL1): c.1756C> T (p.Arg586Trp) single nucleotide variant Pathogenic rs119473038 GRCh37 Chromosome 2, 217311786: 217311786
7 SMARCAL1 SMARCAL1, 4-BP DEL, 1146AAGT deletion Pathogenic
8 SMARCAL1 NM_014140.3(SMARCAL1): c.2291G> A (p.Arg764Gln) single nucleotide variant Pathogenic rs267607071 GRCh37 Chromosome 2, 217340038: 217340038
9 SMARCAL1 NM_014140.3(SMARCAL1): c.1132G> T (p.Glu378Ter) single nucleotide variant Pathogenic rs864309531 GRCh37 Chromosome 2, 217288391: 217288391

Expression for Schimke Immunoosseous Dysplasia

Search GEO for disease gene expression data for Schimke Immunoosseous Dysplasia.

Pathways for Schimke Immunoosseous Dysplasia

GO Terms for Schimke Immunoosseous Dysplasia

Cellular components related to Schimke Immunoosseous Dysplasia according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 SWI/SNF complex GO:0016514 9.16 SMARCA2 SMARCA4
2 nBAF complex GO:0071565 8.96 SMARCA2 SMARCA4
3 npBAF complex GO:0071564 8.62 SMARCA2 SMARCA4

Biological processes related to Schimke Immunoosseous Dysplasia according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 negative regulation of cell growth GO:0030308 9.16 SMARCA2 SMARCA4
2 chromatin remodeling GO:0006338 8.96 SMARCA2 SMARCA4
3 regulation of transcription from RNA polymerase II promoter GO:0006357 8.8 SMARCA2 SMARCA4 SMARCAL1

Molecular functions related to Schimke Immunoosseous Dysplasia according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.67 HELLS SMARCA2 SMARCA4 SMARCAL1
2 ATP binding GO:0005524 9.62 HELLS SMARCA2 SMARCA4 SMARCAL1
3 histone binding GO:0042393 9.4 SMARCA2 SMARCA4
4 RNA polymerase II transcription coactivator activity GO:0001105 9.26 SMARCA2 SMARCA4
5 hydrolase activity, acting on acid anhydrides GO:0016817 9.16 SMARCA2 SMARCA4
6 DNA-dependent ATPase activity GO:0008094 9.13 SMARCA2 SMARCA4 SMARCAL1
7 helicase activity GO:0004386 8.92 HELLS SMARCA2 SMARCA4 SMARCAL1

Sources for Schimke Immunoosseous Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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