MCID: SCH016
MIFTS: 49

Schimke Immunoosseous Dysplasia malady

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

Aliases & Classifications for Schimke Immunoosseous Dysplasia

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Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Schimke Immunoosseous Dysplasia:

Name: Schimke Immunoosseous Dysplasia 52 11 23 48 24 25 70 12 50 39
Schimke Immuno-Osseous Dysplasia 11 25 54 70 13
Immunoosseous Dysplasia, Schimke Type 52 48 25 70
Schimke Syndrome 11 48 54
Siod 48 25 70
Immunoosseous Dysplasia Schimke Type 11 27
 
Spondylo-Epiphyseal Dysplasia, Autosomal Recessive 24
Spondyloepiphyseal Dysplasia - Nephrotic Syndrome 11
Spondyloepiphyseal Dysplasia, Autosomal Recessive 24
Spondyloepiphyseal Dysplasia Nephrotic Syndrome 48
Spondyloepiphyseal Dysplasia-Nephrotic Syndrome 54

Characteristics:

Orphanet epidemiological data:

54
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:

64
schimke immunoosseous dysplasia:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 242900
Disease Ontology11 DOID:0060490
Orphanet54 ORPHA1830
MESH via Orphanet40 C536629
UMLS via Orphanet69 C0877024
ICD10 via Orphanet31 Q77.7
MedGen37 C0877024
UMLS68 C0877024

Summaries for Schimke Immunoosseous Dysplasia

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NIH Rare Diseases:48 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 spondyloepiphyseal dysplasia with congenital joint dislocations and pulmonary embolism, and has symptoms including proteinuria, nephrotic syndrome and short neck. 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 are Transcription Ligand-dependent activation of the ESR1/SP pathway and Chromatin Regulation / Acetylation. Affiliated tissues include bone, kidney and t cells, and related mouse phenotypes are renal/urinary system and growth/size/body region.

Disease Ontology:11 A spondyloepiphyseal dysplasia characterized by short stature with hyperpigmented macules and an 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:70 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:52 242900

GeneReviews for NBK1376

Related Diseases for Schimke Immunoosseous Dysplasia

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Graphical network of diseases related to Schimke Immunoosseous Dysplasia:



Diseases related to schimke immunoosseous dysplasia

Symptoms & Phenotypes for Schimke Immunoosseous Dysplasia

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Symptoms by clinical synopsis from OMIM:

242900

Clinical features from OMIM:

242900

Human phenotypes related to Schimke Immunoosseous Dysplasia:

 64 54 (show all 49)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 proteinuria64 54 hallmark (90%) Very frequent (99-80%) HP:0000093
2 nephrotic syndrome64 54 hallmark (90%) Very frequent (99-80%) HP:0000100
3 short neck64 54 hallmark (90%) Very frequent (99-80%) HP:0000470
4 microdontia64 54 hallmark (90%) Very frequent (99-80%) HP:0000691
5 melanocytic nevus64 54 hallmark (90%) Very frequent (99-80%) HP:0000995
6 intrauterine growth retardation64 54 hallmark (90%) Very frequent (99-80%) HP:0001511
7 thrombocytopenia64 54 hallmark (90%) Very frequent (99-80%) HP:0001873
8 lymphopenia64 54 hallmark (90%) Very frequent (99-80%) HP:0001888
9 anemia64 54 hallmark (90%) Very frequent (99-80%) HP:0001903
10 depressed nasal bridge64 54 hallmark (90%) Very frequent (99-80%) HP:0005280
11 cellular immunodeficiency64 54 hallmark (90%) Very frequent (99-80%) HP:0005374
12 glomerulopathy64 54 hallmark (90%) Very frequent (99-80%) HP:0100820
13 cafe-au-lait spot64 typical (50%) HP:0000957
14 renal insufficiency64 HP:0000083
15 focal segmental glomerulosclerosis64 HP:0000097
16 bulbous nose64 54 Very frequent (99-80%) HP:0000414
17 astigmatism64 HP:0000483
18 myopia64 HP:0000545
19 hypertension64 HP:0000822
20 platyspondyly64 54 Very frequent (99-80%) HP:0000926
21 osteopenia64 HP:0000938
22 hypermelanotic macule64 HP:0001034
23 motor delay64 HP:0001270
24 protuberant abdomen64 HP:0001538
25 high pitched voice64 HP:0001620
26 neutropenia64 HP:0001875
27 coarse hair64 HP:0002208
28 fine hair64 HP:0002213
29 transient ischemic attack64 HP:0002326
30 waddling gait64 HP:0002515
31 arteriosclerosis64 HP:0002634
32 spondyloepiphyseal dysplasia64 HP:0002655
33 recurrent infections64 HP:0002719
34 abnormality of t cells64 54 Very frequent (99-80%) HP:0002843
35 thyroid-stimulating hormone excess64 HP:0002925
36 lumbar hyperlordosis64 HP:0002938
37 thoracic kyphosis64 HP:0002942
38 hypoplasia of the capital femoral epiphysis64 HP:0003090
39 shallow acetabular fossae64 HP:0003182
40 ovoid vertebral bodies64 54 Very frequent (99-80%) HP:0003300
41 disproportionate short-trunk short stature64 54 Very frequent (99-80%) HP:0003521
42 lateral displacement of the femoral head64 HP:0006453
43 opacification of the corneal stroma64 HP:0007759
44 abnormal immunoglobulin level64 HP:0010701
45 hip dislocation54 Very frequent (99-80%)
46 hyperlordosis54 Very frequent (99-80%)
47 abnormal form of the vertebral bodies54 Very frequent (99-80%)
48 abnormality of epiphysis morphology54 Very frequent (99-80%)
49 multiple cafe-au-lait spots54 Frequent (79-30%)

MGI Mouse Phenotypes related to Schimke Immunoosseous Dysplasia according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053679.0HELLS, SMARCA2, SMARCA4, SMARCAL1
2MP:00053788.5HELLS, SMARCA1, SMARCA2, SMARCA4, SMARCAL1
3MP:00053908.3HELLS, SMARCA2, SMARCA4, SMARCAL1
4MP:00053847.9ASTN1, HELLS, SMARCA1, SMARCA2, SMARCA4, SMARCAL1

Drugs & Therapeutics for Schimke Immunoosseous Dysplasia

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Schimke Immunoosseous Dysplasia


Cochrane evidence based reviews: schimke immunoosseous dysplasia

Genetic Tests for Schimke Immunoosseous Dysplasia

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Genetic tests related to Schimke Immunoosseous Dysplasia:

id Genetic test Affiliating Genes
1 Schimke Immunoosseous Dysplasia27 24 SMARCAL1

Anatomical Context for Schimke Immunoosseous Dysplasia

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MalaCards organs/tissues related to Schimke Immunoosseous Dysplasia:

36
Bone, Kidney, T cells, Bone marrow, Thyroid

Publications for Schimke Immunoosseous Dysplasia

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Articles related to Schimke Immunoosseous Dysplasia:

(show all 15)
idTitleAuthorsYear
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
Juvenile variant of Schimke immunoosseous dysplasia. (8209883)
1994
14
Spondyloepiphyseal dysplasia with nephrotic syndrome (Schimke immunoosseous dysplasia). (8209884)
1994
15
Schimke Immunoosseous Dysplasia (20301550)
1993

Variations for Schimke Immunoosseous Dysplasia

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

70 (show all 11)
id Symbol AA change Variation ID SNP ID
1SMARCAL1p.Ala468ProVAR_021370
2SMARCAL1p.Ile548AsnVAR_021371rs119473036
3SMARCAL1p.Ser579LeuVAR_021372
4SMARCAL1p.Arg586TrpVAR_021373rs119473038
5SMARCAL1p.Arg644TrpVAR_021374
6SMARCAL1p.Arg645CysVAR_021375rs119473037
7SMARCAL1p.Lys647GlnVAR_021376
8SMARCAL1p.Lys647ThrVAR_021377
9SMARCAL1p.Thr705IleVAR_021379rs200644381
10SMARCAL1p.Arg764GlnVAR_021381rs267607071
11SMARCAL1p.Arg820HisVAR_021382rs200666300

Clinvar genetic disease variations for Schimke Immunoosseous Dysplasia:

5
id Gene Variation Type Significance SNP ID Assembly Location
1SMARCAL1NM_014140.3(SMARCAL1): c.1132G> T (p.Glu378Ter)SNVPathogenicrs864309531GRCh37Chr 2, 217288391: 217288391
2SMARCAL1NM_014140.3(SMARCAL1): c.2542G> T (p.Glu848Ter)SNVPathogenicrs119473033GRCh37Chr 2, 217342939: 217342939
3SMARCAL1NM_014140.3(SMARCAL1): c.49C> T (p.Arg17Ter)SNVPathogenicrs119473034GRCh37Chr 2, 217279476: 217279476
4SMARCAL1NM_014140.3(SMARCAL1): c.100C> T (p.Gln34Ter)SNVPathogenicrs119473035GRCh37Chr 2, 217279527: 217279527
5SMARCAL1NM_014140.3(SMARCAL1): c.1643T> A (p.Ile548Asn)SNVPathogenicrs119473036GRCh37Chr 2, 217300218: 217300218
6SMARCAL1NM_014140.3(SMARCAL1): c.1933C> T (p.Arg645Cys)SNVPathogenicrs119473037GRCh37Chr 2, 217315650: 217315650
7SMARCAL1NM_014140.3(SMARCAL1): c.1756C> T (p.Arg586Trp)SNVPathogenicrs119473038GRCh37Chr 2, 217311786: 217311786
8SMARCAL1SMARCAL1, 4-BP DEL, 1146AAGTdeletionPathogenicChr na, -1: -1
9SMARCAL1NM_014140.3(SMARCAL1): c.2291G> A (p.Arg764Gln)SNVPathogenicrs267607071GRCh37Chr 2, 217340038: 217340038

Expression for genes affiliated with Schimke Immunoosseous Dysplasia

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

Pathways for genes affiliated with Schimke Immunoosseous Dysplasia

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GO Terms for genes affiliated with Schimke Immunoosseous Dysplasia

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

idNameGO IDScoreTop Affiliating Genes
1nBAF complexGO:007156510.1SMARCA2, SMARCA4
2npBAF complexGO:007156410.1SMARCA2, SMARCA4
3SWI/SNF complexGO:00165149.5SMARCA2, SMARCA4
4nuclear chromatinGO:00007909.3SMARCA1, SMARCA2, SMARCA4

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1DNA strand renaturationGO:000073310.3SMARCA1, SMARCAL1
2negative regulation of cell growthGO:003030810.3SMARCA2, SMARCA4
3spermatid developmentGO:000728610.3SMARCA2, SMARCA4
4ATP-dependent chromatin remodelingGO:004304410.2SMARCA1, SMARCA4
5covalent chromatin modificationGO:001656910.2SMARCA1, SMARCA4
6regulation of transcription from RNA polymerase II promoterGO:00063579.8SMARCA2, SMARCA4, SMARCAL1
7chromatin remodelingGO:00063389.8SMARCA1, SMARCA2, SMARCA4
8positive regulation of transcription, DNA-templatedGO:00458939.7SMARCA1, SMARCA2, SMARCA4
9transcription, DNA-templatedGO:00063518.2HELLS, SMARCA1, SMARCA2, SMARCA4

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

idNameGO IDScoreTop Affiliating Genes
1annealing helicase activityGO:003631010.3SMARCA1, SMARCAL1
2RNA polymerase II transcription coactivator activityGO:00011059.5SMARCA2, SMARCA4
3DNA-dependent ATPase activityGO:00080949.1SMARCA1, SMARCA2, SMARCA4, SMARCAL1
4ATP bindingGO:00055248.3HELLS, SMARCA1, SMARCA2, SMARCA4, SMARCAL1
5helicase activityGO:00043868.2HELLS, SMARCA1, SMARCA2, SMARCA4, SMARCAL1

Sources for Schimke Immunoosseous Dysplasia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet