SIOD
MCID: SCH016
MIFTS: 46

Schimke Immunoosseous Dysplasia (SIOD) malady

Genetic diseases, Rare diseases, Nephrological diseases, Bone diseases, Fetal diseases, Blood diseases, Oral diseases, Immune diseases categories

Summaries for Schimke Immunoosseous Dysplasia

About this section
Sources:
44NIH Rare Diseases, 48OMIM, 20GeneReviews, 34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
NIH Rare Diseases:44 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 x-linked spondyloepiphyseal dysplasia tarda, 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, bone marrow and kidney.

Description from OMIM:48 242900

GeneReviews summary for siod

Aliases & Classifications for Schimke Immunoosseous Dysplasia

About this section
Sources:
20GeneReviews, 44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 48OMIM, 11DISEASES, 46Novoseek, 50Orphanet, 37MESH via Orphanet, 64UMLS via Orphanet
See all sources

Classifications:



Characteristics (Orphanet epidemiological data):

50
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 20 44 22 48 46
immunoosseous dysplasia, schimke type 44 21 23 22
schimke immuno-osseous dysplasia 22 50
schimke syndrome 44 50
siod 44 22
spondyloepiphyseal dysplasia - nephrotic syndrome 50
spondyloepiphyseal dysplasia nephrotic syndrome 44
spondyloepiphyseal dysplasia 20
autosomal recessive disease 11
autosomal recessive 20


External Ids:

OMIM48 242900
MESH via Orphanet37 C536629
UMLS via Orphanet64 C0877024

Related Diseases for Schimke Immunoosseous Dysplasia

About this section
Sources:
18GeneCards, 19GeneDecks
See all sources

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

(show top 50)    (show all 2628)
idRelated DiseaseScoreTop Affiliating Genes
1spondyloepiphyseal dysplasia congenita11.0
2x-linked spondyloepiphyseal dysplasia tarda10.9
3retinitis pigmentosa10.8
4polycystic kidney disease10.8
5kidney disease10.8
6ataxia10.8
7muscular dystrophy10.8
8spasticity10.7
9microcephaly10.7
10hypotrichosis10.7
11osteopetrosis10.7
12autosomal recessive hypotrichosis10.6
13limb-girdle muscular dystrophy10.6
14autosomal recessive congenital ichthyosis10.6
15spondyloepiphyseal dysplasia with congenital joint dislocations10.6
16myopathy10.6
17cerebellar ataxia10.6
18pseudoachondroplasia10.6
19progressive pseudorheumatoid arthropathy of childhood10.6
20cutis laxa10.6
21chronic granulomatous disease10.6
22spondyloepiphyseal dysplasia maroteaux type10.5
23autosomal recessive disease10.5
24autosomal recessive alport syndrome10.5
25nephrotic syndrome10.5
26hypercholesterolemia10.5
27osteoarthritis10.5
28charcot-marie-tooth disease10.5
29tooth disease10.5
30cataract10.5
31ectodermal dysplasia10.5
32alport syndrome10.5
33arsacs10.5
34cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy10.5
35arthropathy10.5
36spondyloepiphyseal dysplasia omani type10.5
37spondyloepiphyseal dysplasia, cantu type10.5
38hypohidrotic ectodermal dysplasia10.5
39arteriosclerosis10.4
40hereditary spastic paraplegia10.4
41hepatitis10.4
42intellectual disability10.4
43albinism10.4
44renal tubular acidosis, distal, autosomal recessive10.4
45spondyloepiphyseal dysplasia, nishimura type10.4
46spondyloepiphyseal dysplasia, macdermot type10.4
47autosomal recessive nonsyndromic deafness10.4
48atp6v0a2-related cutis laxa10.4
49autosomal recessive hyper ige syndrome10.4
50pyridoxine-refractory autosomal recessive sideroblastic anemia10.4

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



Diseases related to schimke immunoosseous dysplasia

Symptoms for Schimke Immunoosseous Dysplasia

About this section
Sources:
48OMIM, 50Orphanet
See all sources

Symptoms by clinical synopsis from OMIM:

242900

Clinical features from OMIM:

242900

Symptoms:

50 (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

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
See all sources

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

About this section
Sources:
21GeneTests, 23GTR
See all sources

Genetic tests related to Schimke Immunoosseous Dysplasia:

id Genetic test Affiliating Genes
1 Schimke Immunoosseous Dysplasia21 23 SMARCAL1

Anatomical Context for Schimke Immunoosseous Dysplasia

About this section
Sources:
34MalaCards
See all sources

MalaCards organs/tissues related to Schimke Immunoosseous Dysplasia:

34
Bone, Bone marrow, Kidney, T cells

Animal Models for Schimke Immunoosseous Dysplasia or affiliated genes

About this section

Publications for Schimke Immunoosseous Dysplasia

About this section
Sources:
53PubMed
See all sources

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

Variations for Schimke Immunoosseous Dysplasia

About this section
Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
See all sources

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

65 (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

Clinvar genetic disease variations for Schimke Immunoosseous Dysplasia:

1
id Gene Name Type Significance SNP ID Assembly Location
1SMARCAL1NM_014140.3(SMARCAL1): c.2542G> T (p.Glu848Ter)single nucleotide variantPathogenicrs119473033GRCh37Chr 2, 217342939: 217342939
2SMARCAL1NM_014140.3(SMARCAL1): c.49C> T (p.Arg17Ter)single nucleotide variantPathogenicrs119473034GRCh37Chr 2, 217279476: 217279476
3SMARCAL1NM_014140.3(SMARCAL1): c.100C> T (p.Gln34Ter)single nucleotide variantPathogenicrs119473035GRCh37Chr 2, 217279527: 217279527
4SMARCAL1NM_014140.3(SMARCAL1): c.1643T> A (p.Ile548Asn)single nucleotide variantPathogenicrs119473036GRCh37Chr 2, 217300218: 217300218
5SMARCAL1NM_014140.3(SMARCAL1): c.1933C> T (p.Arg645Cys)single nucleotide variantPathogenicrs119473037GRCh37Chr 2, 217315650: 217315650
6SMARCAL1NM_014140.3(SMARCAL1): c.1756C> T (p.Arg586Trp)single nucleotide variantPathogenicrs119473038GRCh37Chr 2, 217311786: 217311786
7SMARCAL1SMARCAL1, 4-BP DEL, 1146AAGTdeletionPathogenic
8SMARCAL1NM_014140.3(SMARCAL1): c.2291G> A (p.Arg764Gln)single nucleotide variantPathogenicrs267607071GRCh37Chr 2, 217340038: 217340038

Expression for genes affiliated with Schimke Immunoosseous Dysplasia

About this section
Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
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

About this section

Compounds for genes affiliated with Schimke Immunoosseous Dysplasia

About this section

GO Terms for genes affiliated with Schimke Immunoosseous Dysplasia

About this section

Products for genes affiliated with Schimke Immunoosseous Dysplasia

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Schimke Immunoosseous Dysplasia

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet