MCID: SCH016
MIFTS: 50

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:
50OMIM, 11Disease Ontology, 22GeneReviews, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 48Novoseek, 37MeSH, 66UMLS, 38MESH via Orphanet, 67UMLS via Orphanet, 29ICD10 via Orphanet, 35MedGen, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Schimke Immunoosseous Dysplasia:

Name: Schimke Immunoosseous Dysplasia 50 11 22 46 23 24 12 48 37
Schimke Immuno-Osseous Dysplasia 11 24 13 52 68
Immunoosseous Dysplasia, Schimke Type 50 46 24
Schimke Syndrome 11 46 52
Siod 46 24 68
Immunoosseous Dysplasia Schimke Type 11 25
 
Spondyloepiphyseal Dysplasia-Nephrotic Syndrome Syndrome 52
Spondylo-Epiphyseal Dysplasia, Autosomal Recessive 23
Spondyloepiphyseal Dysplasia, Autosomal Recessive 23
Spondyloepiphyseal Dysplasia - Nephrotic Syndrome 11
Spondyloepiphyseal Dysplasia Nephrotic Syndrome 46

Characteristics:

Orphanet epidemiological data:

52
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:

62
schimke immunoosseous dysplasia:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 242900
Disease Ontology11 DOID:0060490
MeSH37 C536629
Orphanet52 ORPHA1830
MESH via Orphanet38 C536629
UMLS via Orphanet67 C0877024
ICD10 via Orphanet29 Q77.7
MedGen35 C0877024
UMLS66 C0877024

Summaries for Schimke Immunoosseous Dysplasia

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NIH Rare Diseases:46 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 nephrotic syndrome, 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, t cells and kidney, and related mouse phenotypes are skeleton and renal/urinary system.

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 is caused by mutations in the smarcal1 gene.

UniProtKB/Swiss-Prot:68 Schimke immuno-osseous dysplasia: Causes spondyloepiphyseal dysplasia, renal dysfunction and T-cell immunodeficiency. Approximately half of all patients also exhibit hyperthyroidism, while around half also exhibit episodal cerebral ischemia.

Genetics Home Reference:24 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.

Description from OMIM:50 242900

GeneReviews summary for NBK1376

Related Diseases for Schimke Immunoosseous Dysplasia

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



Diseases related to schimke immunoosseous dysplasia

Symptoms for Schimke Immunoosseous Dysplasia

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Symptoms by clinical synopsis from OMIM:

242900

Clinical features from OMIM:

242900

Symptoms:

 52 (show all 22)
  • proteinuria
  • nephrotic syndrome
  • bulbous nose
  • short neck
  • microdontia
  • platyspondyly
  • melanocytic nevus
  • intrauterine growth retardation
  • thrombocytopenia
  • lymphopenia
  • anemia
  • hip dislocation
  • abnormality of t cells
  • ovoid vertebral bodies
  • hyperlordosis
  • abnormal form of the vertebral bodies
  • disproportionate short-trunk short stature
  • depressed nasal bridge
  • cellular immunodeficiency
  • abnormality of epiphysis morphology
  • multiple cafe-au-lait spots
  • glomerulopathy

HPO human phenotypes related to Schimke Immunoosseous Dysplasia:

(show all 53)
id Description Frequency HPO Source Accession
1 proteinuria hallmark (90%) HP:0000093
2 nephrotic syndrome hallmark (90%) HP:0000100
3 short neck hallmark (90%) HP:0000470
4 microdontia hallmark (90%) HP:0000691
5 melanocytic nevus hallmark (90%) HP:0000995
6 intrauterine growth retardation hallmark (90%) HP:0001511
7 thrombocytopenia hallmark (90%) HP:0001873
8 lymphopenia hallmark (90%) HP:0001888
9 anemia hallmark (90%) HP:0001903
10 depressed nasal bridge hallmark (90%) HP:0005280
11 cellular immunodeficiency hallmark (90%) HP:0005374
12 glomerulopathy hallmark (90%) HP:0100820
13 cafe-au-lait spot typical (50%) HP:0000957
14 intrauterine growth retardation typical (50%) HP:0001511
15 renal insufficiency HP:0000083
16 proteinuria HP:0000093
17 focal segmental glomerulosclerosis HP:0000097
18 nephrotic syndrome HP:0000100
19 bulbous nose HP:0000414
20 short neck HP:0000470
21 astigmatism HP:0000483
22 myopia HP:0000545
23 microdontia HP:0000691
24 hypertension HP:0000822
25 platyspondyly HP:0000926
26 osteopenia HP:0000938
27 hypermelanotic macule HP:0001034
28 motor delay HP:0001270
29 protuberant abdomen HP:0001538
30 high pitched voice HP:0001620
31 thrombocytopenia HP:0001873
32 neutropenia HP:0001875
33 lymphopenia HP:0001888
34 anemia HP:0001903
35 coarse hair HP:0002208
36 fine hair HP:0002213
37 transient ischemic attack HP:0002326
38 waddling gait HP:0002515
39 arteriosclerosis HP:0002634
40 spondyloepiphyseal dysplasia HP:0002655
41 recurrent infections HP:0002719
42 abnormality of t cells HP:0002843
43 thyroid-stimulating hormone excess HP:0002925
44 lumbar hyperlordosis HP:0002938
45 thoracic kyphosis HP:0002942
46 hypoplasia of the capital femoral epiphysis HP:0003090
47 shallow acetabular fossae HP:0003182
48 ovoid vertebral bodies HP:0003300
49 disproportionate short-trunk short stature HP:0003521
50 depressed nasal bridge HP:0005280
51 lateral displacement of the femoral head HP:0006453
52 opacification of the corneal stroma HP:0007759
53 abnormal immunoglobulin level HP:0010701

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 Dysplasia25 23 SMARCAL1

Anatomical Context for Schimke Immunoosseous Dysplasia

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MalaCards organs/tissues related to Schimke Immunoosseous Dysplasia:

34
Bone, T cells, Kidney, Bone marrow, Thyroid

Animal Models for Schimke Immunoosseous Dysplasia or affiliated genes

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MGI Mouse Phenotypes related to Schimke Immunoosseous Dysplasia:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053908.3HELLS, SMARCA2, SMARCA4, SMARCAL1
2MP:00053678.2HELLS, SMARCA2, SMARCA4, SMARCAL1
3MP:00053787.4HELLS, SMARCA1, SMARCA2, SMARCA4, SMARCAL1
4MP:00053847.3ASTN1, HELLS, SMARCA1, SMARCA2, SMARCA4, SMARCAL1

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:

68 (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)single nucleotide variantPathogenicrs864309531GRCh37Chr 2, 217288391: 217288391
2SMARCAL1NM_014140.3(SMARCAL1): c.2542G> T (p.Glu848Ter)single nucleotide variantPathogenicrs119473033GRCh37Chr 2, 217342939: 217342939
3SMARCAL1NM_014140.3(SMARCAL1): c.49C> T (p.Arg17Ter)single nucleotide variantPathogenicrs119473034GRCh37Chr 2, 217279476: 217279476
4SMARCAL1NM_014140.3(SMARCAL1): c.100C> T (p.Gln34Ter)single nucleotide variantPathogenicrs119473035GRCh37Chr 2, 217279527: 217279527
5SMARCAL1NM_014140.3(SMARCAL1): c.1643T> A (p.Ile548Asn)single nucleotide variantPathogenicrs119473036GRCh37Chr 2, 217300218: 217300218
6SMARCAL1NM_014140.3(SMARCAL1): c.1933C> T (p.Arg645Cys)single nucleotide variantPathogenicrs119473037GRCh37Chr 2, 217315650: 217315650
7SMARCAL1NM_014140.3(SMARCAL1): c.1756C> T (p.Arg586Trp)single nucleotide variantPathogenicrs119473038GRCh37Chr 2, 217311786: 217311786
8SMARCAL1SMARCAL1, 4-BP DEL, 1146AAGTdeletionPathogenic
9SMARCAL1NM_014140.3(SMARCAL1): c.2291G> A (p.Arg764Gln)single nucleotide variantPathogenicrs267607071GRCh37Chr 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
1npBAF complexGO:00715649.9SMARCA2, SMARCA4
2SWI/SNF complexGO:00165149.9SMARCA2, SMARCA4
3nBAF complexGO:00715659.5SMARCA2, SMARCA4
4nuclear chromatinGO:00007908.7SMARCA1, 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:000073310.2SMARCA1, SMARCAL1
2ATP-dependent chromatin remodelingGO:004304410.0SMARCA1, SMARCA4
3negative regulation of cell growthGO:00303089.9SMARCA2, SMARCA4
4covalent chromatin modificationGO:00165699.7SMARCA1, SMARCA4
5spermatid developmentGO:00072869.7SMARCA2, SMARCA4
6regulation of transcription from RNA polymerase II promoterGO:00063579.5SMARCA2, SMARCA4, SMARCAL1
7chromatin remodelingGO:00063389.4SMARCA1, SMARCA2, SMARCA4
8positive regulation of transcription, DNA-templatedGO:00458939.3SMARCA1, 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:003631010.2SMARCA1, SMARCAL1
2RNA polymerase II transcription coactivator activityGO:000110510.0SMARCA2, SMARCA4
3DNA-dependent ATPase activityGO:00080948.9SMARCA1, SMARCA2, SMARCA4, SMARCAL1
4helicase activityGO:00043867.9HELLS, SMARCA1, SMARCA2, SMARCA4, SMARCAL1
5ATP bindingGO:00055247.7HELLS, SMARCA1, SMARCA2, SMARCA4, SMARCAL1

Sources for Schimke Immunoosseous Dysplasia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet