SIOD
MCID: SCH016
MIFTS: 49

Schimke Immunoosseous Dysplasia (SIOD) malady

Nephrological diseases, Bone diseases, Fetal diseases, Blood diseases, Immune diseases categories

Summaries for Schimke Immunoosseous Dysplasia

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42NIH Rare Diseases, 21Genetics Home Reference, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 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: Schimke Immunoosseous Dysplasia, also known as immunoosseous dysplasia, schimke type, is related to spondyloepiphyseal dysplasia congenita and retinitis pigmentosa, and has symptoms including thrombocytopenia/thrombopenia, renal glomerular defect/glomerulopathy and nephrotic syndrome. An important gene associated with Schimke Immunoosseous Dysplasia is SMARCAL1 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1). Affiliated tissues include bone, kidney and t cells.

Genetics Home Reference:21 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:46 242900

GeneReviews summary for siod

Aliases & Classifications for Schimke Immunoosseous Dysplasia

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19GeneReviews, 10DISEASES, 42NIH Rare Diseases, 21Genetics Home Reference, 46OMIM, 44Novoseek, 20GeneTests, 22GTR, 48Orphanet, 35MESH via Orphanet, 61UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

48
schimke immuno-osseous dysplasia:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy; Age of death: Child / adolescent


Aliases & Descriptions:

schimke immunoosseous dysplasia 19 42 21 46 44
immunoosseous dysplasia, schimke type 42 20 22 21
schimke immuno-osseous dysplasia 21 48
schimke syndrome 42 48
siod 42 21
spondyloepiphyseal dysplasia - nephrotic syndrome 48
spondyloepiphyseal dysplasia nephrotic syndrome 42
spondyloepiphyseal dysplasia 19
autosomal recessive disease 10
autosomal recessive 19


External Ids:

OMIM46 242900
MESH via Orphanet35 C536629
UMLS via Orphanet61 C0877024

Related Diseases for Schimke Immunoosseous Dysplasia

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17GeneCards, 18GeneDecks
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Diseases related to Schimke Immunoosseous Dysplasia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 2411)
idRelated DiseaseScoreTop Affiliating Genes
1spondyloepiphyseal dysplasia congenita11.0
2retinitis pigmentosa10.8
3polycystic kidney disease, autosomal recessive10.8
4x-linked spondyloepiphyseal dysplasia tarda10.8
5polycystic kidney disease10.8
6kidney disease10.8
7autosomal recessive disease10.6
8osteopetrosis10.6
9hypotrichosis10.6
10autosomal recessive congenital ichthyosis10.6
11spondyloepiphyseal dysplasia with congenital joint dislocations10.6
12pseudoachondroplasia10.5
13cutis laxa10.5
14chronic granulomatous disease10.5
15nephrotic syndrome10.5
16osteoarthritis10.5
17progressive pseudorheumatoid arthropathy of childhood10.5
18spondyloepiphyseal dysplasia maroteaux type10.5
19charcot-marie-tooth disease10.5
20tooth disease10.5
21autosomal recessive nonsyndromic deafness10.4
22arsacs10.4
23alport syndrome10.4
24autosomal recessive hypotrichosis10.4
25arthropathy10.4
26spondyloepiphyseal dysplasia, cantu type10.4
27hypohidrotic ectodermal dysplasia10.4
28hereditary spastic paraplegia10.4
29cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy10.4
30arteriosclerosis10.4
31hepatitis10.4
32intellectual disability10.4
33albinism10.4
34renal tubular acidosis, distal, autosomal recessive10.4
35spondyloepiphyseal dysplasia, nishimura type10.4
36spondyloepiphyseal dysplasia, macdermot type10.4
37cutis laxa, autosomal recessive type 2a10.4
38parkinson's disease10.4
39pyridoxine-refractory autosomal recessive sideroblastic anemia10.4
40amelogenesis imperfecta10.4
41renal tubular acidosis10.4
42osteopetrosis autosomal recessive 110.4
43microcephaly, primary autosomal recessive10.4
44pulmonary embolism10.4
45roifman syndrome10.4
46segawa syndrome, autosomal recessive10.3
47multiple epiphyseal dysplasia10.3
48spondyloepiphyseal dysplasia tarda autosomal dominant10.3
49spondyloepiphyseal dysplasia tarda toledo type10.3
50spondyloepiphyseal dysplasia omani type10.3

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



Diseases related to schimke immunoosseous dysplasia

Clinical Features for Schimke Immunoosseous Dysplasia

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46OMIM, 48Orphanet
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Clinical features from OMIM:

242900

Clinical synopsis from OMIM:

242900

Symptoms:

48 (show all 20)
  • thrombocytopenia/thrombopenia
  • renal glomerular defect/glomerulopathy
  • nephrotic syndrome
  • intrauterine growth retardation
  • t-cell deficiency/cellular immunity deficiency
  • lymphopenia
  • cafe-au-lait spot
  • complete/partial microdontia
  • long/large/bulbous nose
  • epiphyseal anomaly
  • autosomal recessive inheritance
  • lordosis
  • pigmented naevi/naevus pigmentosus/lentigo
  • depressed nasal bridge
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • abnormal vertebral size/shape
  • short stature/dwarfism/nanism
  • proteinuria
  • anaemia
  • short neck

Drugs & Therapeutics for Schimke Immunoosseous Dysplasia

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Schimke Immunoosseous Dysplasia

Drug clinical trials:

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Search NIH Clinical Center for Schimke Immunoosseous Dysplasia

Search CenterWatch for Schimke Immunoosseous Dysplasia

Genetic Tests for Schimke Immunoosseous Dysplasia

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20GeneTests, 22GTR
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Genetic tests related to Schimke Immunoosseous Dysplasia:

id Genetic test Affiliating Genes
1 Schimke Immunoosseous Dysplasia20 22 SMARCAL1

Anatomical Context for Schimke Immunoosseous Dysplasia

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32MalaCards
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MalaCards organs/tissues related to Schimke Immunoosseous Dysplasia:

32
Bone, Kidney, T cells, Bone marrow

Animal Models for Schimke Immunoosseous Dysplasia or affiliated genes

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Publications for Schimke Immunoosseous Dysplasia

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50PubMed
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Articles related to Schimke Immunoosseous Dysplasia:

(show all 13)
idTitleAuthorsYear
1
Schimke Immunoosseous Dysplasia associated with undifferentiated carcinoma and a novel SMARCAL1 mutation in a child. (23630135)
2013
2
Schimke immunoosseous dysplasia: defining skeletal features. (20013129)
2010
3
Pulmonary embolism--a rare complication of Schimke immunoosseous dysplasia. (17195070)
2007
4
Schimke immunoosseous dysplasia: suggestions of genetic diversity. (17089404)
2007
5
Mitochondrial function in schimke-immunoosseous dysplasia. (16167201)
2005
6
Clinical quiz. Schimke immunoosseous dysplasia syndrome (SIOD). (11465814)
2001
7
Mental retardation and seizure disorder in Schimke immunoosseous dysplasia. (10710226)
2000
8
Autoimmune enteropathy in Schimke immunoosseous dysplasia. (9632175)
1998
9
Schimke immunoosseous dysplasia complicated by moyamoya phenomenon. (9674900)
1998
10
Spondyloepiphyseal dysplasia with nephrotic syndrome (Schimke immunoosseous dysplasia). (9039659)
1997
11
Juvenile variant of Schimke immunoosseous dysplasia. (8209883)
1994
12
Spondyloepiphyseal dysplasia with nephrotic syndrome (Schimke immunoosseous dysplasia). (8209884)
1994
13
Schimke Immunoosseous Dysplasia (20301550)
1993

Genetic Variations for Schimke Immunoosseous Dysplasia

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Schimke Immunoosseous Dysplasia:

62 (show all 11)
id Symbol AA change Variation ID SNP ID
1SMARCAL1p.Ala468ProVAR_021370
2SMARCAL1p.Ile548AsnVAR_021371
3SMARCAL1p.Ser579LeuVAR_021372
4SMARCAL1p.Arg586TrpVAR_021373
5SMARCAL1p.Arg644TrpVAR_021374
6SMARCAL1p.Arg645CysVAR_021375
7SMARCAL1p.Lys647GlnVAR_021376
8SMARCAL1p.Lys647ThrVAR_021377
9SMARCAL1p.Thr705IleVAR_021379
10SMARCAL1p.Arg764GlnVAR_021381
11SMARCAL1p.Arg820HisVAR_021382

Expression for genes affiliated with Schimke Immunoosseous Dysplasia

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Schimke Immunoosseous Dysplasia

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Pathways for genes affiliated with Schimke Immunoosseous Dysplasia

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Compounds for genes affiliated with Schimke Immunoosseous Dysplasia

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GO Terms for genes affiliated with Schimke Immunoosseous Dysplasia

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Products for genes affiliated with Schimke Immunoosseous Dysplasia

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Schimke Immunoosseous Dysplasia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet