SIOD
MCID: SCH016
MIFTS: 40

Schimke Immunoosseous Dysplasia (SIOD) malady

Nephrological, Bone, Fetal, Blood, Immune categories

Summaries for Schimke Immunoosseous Dysplasia

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 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 autosomal recessive disease, and has symptoms including short neck, epiphyseal anomaly and autosomal recessive inheritance. 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 kidney, bone marrow 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:47 242900

GeneReviews summary for siod

Aliases & Classifications for Schimke Immunoosseous Dysplasia

Sources:
19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 36MESH via Orphanet, 62UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Nephrological, Bone, Blood, Immune


Characteristics (Orphanet epidemiological data):

49
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 43 21 47 45
immunoosseous dysplasia, schimke type 43 20 22 21
schimke immuno-osseous dysplasia 21 49
schimke syndrome 43 49
siod 43 21
spondyloepiphyseal dysplasia - nephrotic syndrome 49
spondyloepiphyseal dysplasia nephrotic syndrome 43
spondyloepiphyseal dysplasia 19
autosomal recessive disease 10
autosomal recessive 19


External Ids:

OMIM47 242900
MESH via Orphanet36 C536629
UMLS via Orphanet62 C0877024

Related Diseases for Schimke Immunoosseous Dysplasia

Sources:
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 2449)
idRelated DiseaseScoreTop Affiliating Genes
1spondyloepiphyseal dysplasia congenita11.0
2autosomal recessive disease11.0
3retinitis pigmentosa autosomal recessive10.8
4retinitis pigmentosa10.8
5x-linked spondyloepiphyseal dysplasia tarda10.8
6polycystic kidney disease, autosomal recessive10.8
7polycystic kidney disease10.8
8autosomal recessive hypotrichosis10.7
9osteopetrosis10.6
10autosomal recessive congenital ichthyosis10.6
11spondyloepiphyseal dysplasia with congenital joint dislocations10.6
12microcephaly, primary autosomal recessive10.6
13pseudoachondroplasia10.6
14autosomal recessive alport syndrome10.5
15cutis laxa10.5
16chronic granulomatous disease10.5
17osteoarthritis10.5
18spondyloepiphyseal dysplasia maroteaux type10.5
19hypercholesterolemia10.5
20renal tubular acidosis, distal, autosomal recessive10.5
21progressive pseudorheumatoid arthropathy of childhood10.5
22spondyloepiphyseal dysplasia omani type10.5
23tooth disease10.5
24alport syndrome10.5
25hypohidrotic ectodermal dysplasia autosomal recessive10.5
26ectodermal dysplasia10.5
27arsacs10.5
28arthropathy10.5
29autosomal recessive nonsyndromic deafness10.4
30hypohidrotic ectodermal dysplasia10.4
31hereditary spastic paraplegia10.4
32autosomal genetic disease10.4
33cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy10.4
34woolly hair, autosomal recessive10.4
35hypohidrotic ectodermal dysplasia, autosomal10.4
36arteriosclerosis10.4
37spondyloepiphyseal dysplasia, cantu type10.4
38albinism10.4
39osteopetrosis autosomal recessive 110.4
40cutis laxa, autosomal recessive type 2a10.4
41dfnb110.4
42pyridoxine-refractory autosomal recessive sideroblastic anemia10.4
43amelogenesis imperfecta10.4
44renal tubular acidosis10.4
45myotonia10.4
46multiple epiphyseal dysplasia10.4
47spondyloepiphyseal dysplasia tarda autosomal dominant10.4
48spondyloepiphyseal dysplasia tarda toledo type10.4
49spondyloepiphyseal dysplasia, nishimura type10.4
50spondyloepiphyseal dysplasia, macdermot type10.4

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



Diseases related to schimke immunoosseous dysplasia

Clinical Features for Schimke Immunoosseous Dysplasia

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

242900

Clinical synopsis from OMIM:

242900

Symptoms:

49 (show all 20)
  • short neck
  • 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
  • long/large/bulbous nose
  • complete/partial microdontia
  • thrombocytopenia/thrombopenia
  • renal glomerular defect/glomerulopathy
  • nephrotic syndrome
  • intrauterine growth retardation
  • t-cell deficiency/cellular immunity deficiency
  • lymphopenia
  • cafe-au-lait spot

Drugs & Therapeutics for Schimke Immunoosseous Dysplasia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Schimke Immunoosseous Dysplasia

Drug clinical trials:

Search ClinicalTrials for Schimke Immunoosseous Dysplasia

Search NIH Clinical Center for Schimke Immunoosseous Dysplasia

Search CenterWatch for Schimke Immunoosseous Dysplasia

Genetic Tests for Schimke Immunoosseous Dysplasia

Sources:
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

Sources:
33MalaCards
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MalaCards organs/tissues related to Schimke Immunoosseous Dysplasia:

33
Kidney, Bone marrow, T cells

Animal Models for Schimke Immunoosseous Dysplasia or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Schimke Immunoosseous Dysplasia

Sources:
51PubMed
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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

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Schimke Immunoosseous Dysplasia:

63 (show all 11)
id Symbol AA change Variation 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

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

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

Pathways for genes affiliated with Schimke Immunoosseous Dysplasia

Compounds for genes affiliated with Schimke Immunoosseous Dysplasia

GO Terms for genes affiliated with Schimke Immunoosseous Dysplasia

Products for genes affiliated with Schimke Immunoosseous Dysplasia

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Schimke Immunoosseous Dysplasia

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet