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

About this section
Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 26GTR, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Schimke Immunoosseous Dysplasia:

Name: Schimke Immunoosseous Dysplasia 51 11 23 47 24 25 69 12 49 38
Schimke Immuno-Osseous Dysplasia 11 25 53 69 13
Immunoosseous Dysplasia, Schimke Type 51 47 25 69
Schimke Syndrome 11 47 53
Siod 47 25 69
Immunoosseous Dysplasia Schimke Type 11 26
 
Spondylo-Epiphyseal Dysplasia, Autosomal Recessive 24
Spondyloepiphyseal Dysplasia - Nephrotic Syndrome 11
Spondyloepiphyseal Dysplasia, Autosomal Recessive 24
Spondyloepiphyseal Dysplasia Nephrotic Syndrome 47
Spondyloepiphyseal Dysplasia-Nephrotic Syndrome 53

Characteristics:

Orphanet epidemiological data:

53
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:

63
schimke immunoosseous dysplasia:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 242900
Disease Ontology11 DOID:0060490
Orphanet53 ORPHA1830
MESH via Orphanet39 C536629
UMLS via Orphanet68 C0877024
ICD10 via Orphanet30 Q77.7
MedGen36 C0877024
UMLS67 C0877024

Summaries for Schimke Immunoosseous Dysplasia

About this section
NIH Rare Diseases:47 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:69 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:51 242900

GeneReviews for NBK1376

Related Diseases for Schimke Immunoosseous Dysplasia

About this section

Graphical network of diseases related to Schimke Immunoosseous Dysplasia:



Diseases related to schimke immunoosseous dysplasia

Symptoms for Schimke Immunoosseous Dysplasia

About this section

Symptoms by clinical synopsis from OMIM:

242900

Clinical features from OMIM:

242900

Human phenotypes related to Schimke Immunoosseous Dysplasia:

 63 53 (show all 49)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 proteinuria63 53 hallmark (90%) Very frequent (99-80%) HP:0000093
2 nephrotic syndrome63 53 hallmark (90%) Very frequent (99-80%) HP:0000100
3 short neck63 53 hallmark (90%) Very frequent (99-80%) HP:0000470
4 microdontia63 53 hallmark (90%) Very frequent (99-80%) HP:0000691
5 melanocytic nevus63 53 hallmark (90%) Very frequent (99-80%) HP:0000995
6 intrauterine growth retardation63 53 hallmark (90%) Very frequent (99-80%) HP:0001511
7 thrombocytopenia63 53 hallmark (90%) Very frequent (99-80%) HP:0001873
8 lymphopenia63 53 hallmark (90%) Very frequent (99-80%) HP:0001888
9 anemia63 53 hallmark (90%) Very frequent (99-80%) HP:0001903
10 depressed nasal bridge63 53 hallmark (90%) Very frequent (99-80%) HP:0005280
11 cellular immunodeficiency63 53 hallmark (90%) Very frequent (99-80%) HP:0005374
12 glomerulopathy63 53 hallmark (90%) Very frequent (99-80%) HP:0100820
13 cafe-au-lait spot63 typical (50%) HP:0000957
14 renal insufficiency63 HP:0000083
15 focal segmental glomerulosclerosis63 HP:0000097
16 bulbous nose63 53 Very frequent (99-80%) HP:0000414
17 astigmatism63 HP:0000483
18 myopia63 HP:0000545
19 hypertension63 HP:0000822
20 platyspondyly63 53 Very frequent (99-80%) HP:0000926
21 osteopenia63 HP:0000938
22 hypermelanotic macule63 HP:0001034
23 motor delay63 HP:0001270
24 protuberant abdomen63 HP:0001538
25 high pitched voice63 HP:0001620
26 neutropenia63 HP:0001875
27 coarse hair63 HP:0002208
28 fine hair63 HP:0002213
29 transient ischemic attack63 HP:0002326
30 waddling gait63 HP:0002515
31 arteriosclerosis63 HP:0002634
32 spondyloepiphyseal dysplasia63 HP:0002655
33 recurrent infections63 HP:0002719
34 abnormality of t cells63 53 Very frequent (99-80%) HP:0002843
35 thyroid-stimulating hormone excess63 HP:0002925
36 lumbar hyperlordosis63 HP:0002938
37 thoracic kyphosis63 HP:0002942
38 hypoplasia of the capital femoral epiphysis63 HP:0003090
39 shallow acetabular fossae63 HP:0003182
40 ovoid vertebral bodies63 53 Very frequent (99-80%) HP:0003300
41 disproportionate short-trunk short stature63 53 Very frequent (99-80%) HP:0003521
42 lateral displacement of the femoral head63 HP:0006453
43 opacification of the corneal stroma63 HP:0007759
44 abnormal immunoglobulin level63 HP:0010701
45 hip dislocation53 Very frequent (99-80%)
46 hyperlordosis53 Very frequent (99-80%)
47 abnormal form of the vertebral bodies53 Very frequent (99-80%)
48 abnormality of epiphysis morphology53 Very frequent (99-80%)
49 multiple cafe-au-lait spots53 Frequent (79-30%)

Drugs & Therapeutics for Schimke Immunoosseous Dysplasia

About this section

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

About this section

Genetic tests related to Schimke Immunoosseous Dysplasia:

id Genetic test Affiliating Genes
1 Schimke Immunoosseous Dysplasia26 24 SMARCAL1

Anatomical Context for Schimke Immunoosseous Dysplasia

About this section

MalaCards organs/tissues related to Schimke Immunoosseous Dysplasia:

35
Bone, Kidney, T cells, Bone marrow, Thyroid

Animal Models for Schimke Immunoosseous Dysplasia or affiliated genes

About this section

MGI Mouse Phenotypes related to Schimke Immunoosseous Dysplasia:

40
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

Publications for Schimke Immunoosseous Dysplasia

About this section

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

About this section

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

69 (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

About this section
Search GEO for disease gene expression data for Schimke Immunoosseous Dysplasia.

Pathways for genes affiliated with Schimke Immunoosseous Dysplasia

About this section

GO Terms for genes affiliated with Schimke Immunoosseous Dysplasia

About this section

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

idNameGO IDScoreTop Affiliating Genes
1npBAF complexGO:007156410.0SMARCA2, SMARCA4
2SWI/SNF complexGO:001651410.0SMARCA2, SMARCA4
3nBAF complexGO:00715659.2SMARCA2, SMARCA4
4nuclear chromatinGO:00007909.0SMARCA1, 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
3spermatid developmentGO:00072869.8SMARCA2, SMARCA4
4negative regulation of cell growthGO:00303089.8SMARCA2, SMARCA4
5regulation of transcription from RNA polymerase II promoterGO:00063579.5SMARCA2, SMARCA4, SMARCAL1
6chromatin remodelingGO:00063389.4SMARCA1, SMARCA2, SMARCA4
7positive regulation of transcription, DNA-templatedGO:00458939.4SMARCA1, SMARCA2, SMARCA4
8covalent chromatin modificationGO:00165699.1SMARCA1, 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:000110510.1SMARCA2, SMARCA4
3DNA-dependent ATPase activityGO:00080948.8SMARCA1, SMARCA2, SMARCA4, SMARCAL1
4ATP bindingGO:00055247.7HELLS, SMARCA1, SMARCA2, SMARCA4, SMARCAL1
5helicase activityGO:00043867.6HELLS, SMARCA1, SMARCA2, SMARCA4, SMARCAL1

Sources for Schimke Immunoosseous Dysplasia

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet