MCID: SCH016
MIFTS: 51

Schimke Immunoosseous Dysplasia malady

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

Aliases & Classifications for Schimke Immunoosseous Dysplasia

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Sources:
49OMIM, 11diseasecard, 21GeneReviews, 45NIH Rare Diseases, 23Genetics Home Reference, 47Novoseek, 65UMLS, 22GeneTests, 51Orphanet, 67UniProtKB/Swiss-Prot, 24GTR, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen
See all sources

Aliases & Descriptions for Schimke Immunoosseous Dysplasia:

Name: Schimke Immunoosseous Dysplasia 49 11 21 45 23 47
Schimke Immuno-Osseous Dysplasia 23 51 24 67
Immunoosseous Dysplasia, Schimke Type 45 22 23
Siod 45 23 67
Spondyloepiphyseal Dysplasia 21 65
Schimke Syndrome 45 51
Spondylo-Epiphyseal Dysplasia, Autosomal Recessive 22
 
Spondyloepiphyseal Dysplasia - Nephrotic Syndrome 51
Spondyloepiphyseal Dysplasia, Autosomal Recessive 22
Spondyloepiphyseal Dysplasia Nephrotic Syndrome 45
Spondyloepiphyseal Dysplasia, Congenita 65
Mucopolysaccharidosis Iv 65
Autosomal Recessive 21
Sulfocysteinuria 65


Classifications:



Characteristics (Orphanet epidemiological data):

51
schimke immuno-osseous dysplasia:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: adolescent,early childhood,late childhood


External Ids:

OMIM49 242900
Orphanet51 1830
MESH via Orphanet37 C536629
UMLS via Orphanet66 C0877024
MedGen34 C0877024

Summaries for Schimke Immunoosseous Dysplasia

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NIH Rare Diseases:45 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 spondyloepiphyseal dysplasia tarda, 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). Affiliated tissues include bone, t cells and kidney, and related mouse phenotypes are hearing/vestibular/ear and immune system.

Genetics Home Reference:23 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:67 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.

Description from OMIM:49 242900

GeneReviews summary for siod

Related Diseases for Schimke Immunoosseous Dysplasia

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

(show top 50)    (show all 3775)
idRelated DiseaseScoreTop Affiliating Genes
1spondyloepiphyseal dysplasia with congenital joint dislocations31.1COL2A1, SMARCAL1
2spondyloepiphyseal dysplasia tarda11.1
3sed congenita10.9
4retinitis pigmentosa10.9
5ataxia10.8
6polycystic kidney disease10.8
7kidney disease10.8
8spasticity10.7
9muscular dystrophy10.7
10ichthyosis10.7
11microcephaly10.7
12hypotrichosis10.7
13autosomal recessive congenital ichthyosis10.7
14sed, maroteaux type10.7
15osteopetrosis10.7
16spondyloepiphyseal dysplasia, kimberley type10.6
17pseudoachondroplasia10.6
18myopathy10.6
19hyper-ige recurrent infection syndrome, autosomal recessive10.6
20cerebellar ataxia10.6
21nephrotic syndrome10.6
22autosomal recessive primary microcephaly10.6
23arthropathy, progressive pseudorheumatoid, of childhood10.6
24arthropathy10.6
25limb-girdle muscular dystrophy10.6
26cutis laxa10.6
27osteoarthritis10.6
28autosomal recessive disease10.5
29spondyloepiphyseal dysplasia tarda, autosomal dominant10.5
30spondyloepiphyseal dysplasia, stanescu type10.5
31chronic granulomatous disease10.5
32ectodermal dysplasia10.5
33neuromyotonia and axonal neuropathy, autosomal recessive10.5
34charcot-marie-tooth disease10.5
35tooth disease10.5
36alport syndrome10.5
37spinocerebellar ataxia, autosomal recessive 810.5
38renal tubular acidosis, distal, autosomal recessive10.5
39carasil syndrome10.5
40arsacs10.5
41hypotrichosis 710.5
42spondyloepiphyseal dysplasia tarda toledo type10.5
43spondyloepiphyseal dysplasia, nishimura type10.5
44spondyloepiphyseal dysplasia, cantu type10.5
45spondyloepiphyseal dysplasia, macdermot type10.5
46evans' syndrome10.5
47arteriosclerosis10.5
48segawa syndrome, recessive10.4
49osteopetrosis, autosomal recessive 110.4
50intellectual disability10.4

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:

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

HPO human phenotypes related to Schimke Immunoosseous Dysplasia:

(show all 54)
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 autosomal recessive inheritance HP:0000007
16 renal insufficiency HP:0000083
17 proteinuria HP:0000093
18 focal segmental glomerulosclerosis HP:0000097
19 nephrotic syndrome HP:0000100
20 bulbous nose HP:0000414
21 short neck HP:0000470
22 astigmatism HP:0000483
23 myopia HP:0000545
24 microdontia HP:0000691
25 hypertension HP:0000822
26 platyspondyly HP:0000926
27 osteopenia HP:0000938
28 hypermelanotic macule HP:0001034
29 motor delay HP:0001270
30 protuberant abdomen HP:0001538
31 high pitched voice HP:0001620
32 thrombocytopenia HP:0001873
33 neutropenia HP:0001875
34 lymphopenia HP:0001888
35 anemia HP:0001903
36 coarse hair HP:0002208
37 fine hair HP:0002213
38 transient ischemic attack HP:0002326
39 waddling gait HP:0002515
40 arteriosclerosis HP:0002634
41 spondyloepiphyseal dysplasia HP:0002655
42 recurrent infections HP:0002719
43 abnormality of t cells HP:0002843
44 thyroid-stimulating hormone excess HP:0002925
45 lumbar hyperlordosis HP:0002938
46 thoracic kyphosis HP:0002942
47 hypoplasia of the capital femoral epiphysis HP:0003090
48 shallow acetabular fossae HP:0003182
49 ovoid vertebral bodies HP:0003300
50 disproportionate short-trunk short stature HP:0003521
51 depressed nasal bridge HP:0005280
52 lateral displacement of the femoral head HP:0006453
53 opacification of the corneal stroma HP:0007759
54 abnormal immunoglobulin level HP:0010701

Drugs & Therapeutics for Schimke Immunoosseous Dysplasia

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Drugs for Schimke Immunoosseous Dysplasia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Molybdenum247439-98-7185498
Synonyms:
Mo
Molybdaen
Molybdene
 
Molybdenum atom
Molybdenum elemental
Molybdenum insoluble compounds
Molybdenum metallic

Interventional clinical trials:

idNameStatusNCT IDPhase
1A Natural History Study of Molybdenum Cofactor and Isolated Sulfite Oxidase DeficienciesActive, not recruitingNCT01735188

Search NIH Clinical Center for 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 Dysplasia22 24 SMARCAL1

Anatomical Context for Schimke Immunoosseous Dysplasia

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MalaCards organs/tissues related to Schimke Immunoosseous Dysplasia:

33
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:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.4COL2A1, PTN
2MP:00053878.5COL2A1, PTN, SMARCAL1
3MP:00036318.2COL2A1, PTN, SMARCAL1

Publications for Schimke Immunoosseous Dysplasia

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Articles related to Schimke Immunoosseous Dysplasia:

(show all 14)
idTitleAuthorsYear
1
A novel splice site mutation in SMARCAL1 results in aberrant exon definition in a child with schimke immunoosseous dysplasia. (25943327)
2015
2
Schimke Immunoosseous Dysplasia associated with undifferentiated carcinoma and a novel SMARCAL1 mutation in a child. (23630135)
2013
3
Schimke immunoosseous dysplasia: defining skeletal features. (20013129)
2010
4
Pulmonary embolism--a rare complication of Schimke immunoosseous dysplasia. (17195070)
2007
5
Schimke immunoosseous dysplasia: suggestions of genetic diversity. (17089404)
2007
6
Mitochondrial function in schimke-immunoosseous dysplasia. (16167201)
2005
7
Clinical quiz. Schimke immunoosseous dysplasia syndrome (SIOD). (11465814)
2001
8
Mental retardation and seizure disorder in Schimke immunoosseous dysplasia. (10710226)
2000
9
Autoimmune enteropathy in Schimke immunoosseous dysplasia. (9632175)
1998
10
Schimke immunoosseous dysplasia complicated by moyamoya phenomenon. (9674900)
1998
11
Spondyloepiphyseal dysplasia with nephrotic syndrome (Schimke immunoosseous dysplasia). (9039659)
1997
12
Juvenile variant of Schimke immunoosseous dysplasia. (8209883)
1994
13
Spondyloepiphyseal dysplasia with nephrotic syndrome (Schimke immunoosseous dysplasia). (8209884)
1994
14
Schimke Immunoosseous Dysplasia (20301550)
1993

Variations for Schimke Immunoosseous Dysplasia

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

67 (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:

5
id Gene Variation Type Significance SNP ID Assembly Location
1COL2A1NM_001844.4(COL2A1): c.4316C> T (p.Thr1439Met)single nucleotide variantLikely pathogenic, Pathogenicrs121912886GRCh37Chr 12, 48367873: 48367873
2COL2A1NM_001844.4(COL2A1): c.1510G> A (p.Gly504Ser)single nucleotide variantPathogenicrs121912880GRCh37Chr 12, 48380136: 48380136
3SMARCAL1NM_014140.3(SMARCAL1): c.2542G> T (p.Glu848Ter)single nucleotide variantPathogenicrs119473033GRCh37Chr 2, 217342939: 217342939
4SMARCAL1NM_014140.3(SMARCAL1): c.49C> T (p.Arg17Ter)single nucleotide variantPathogenicrs119473034GRCh37Chr 2, 217279476: 217279476
5SMARCAL1NM_014140.3(SMARCAL1): c.100C> T (p.Gln34Ter)single nucleotide variantPathogenicrs119473035GRCh37Chr 2, 217279527: 217279527
6SMARCAL1NM_014140.3(SMARCAL1): c.1643T> A (p.Ile548Asn)single nucleotide variantPathogenicrs119473036GRCh37Chr 2, 217300218: 217300218
7SMARCAL1NM_014140.3(SMARCAL1): c.1933C> T (p.Arg645Cys)single nucleotide variantPathogenicrs119473037GRCh37Chr 2, 217315650: 217315650
8SMARCAL1NM_014140.3(SMARCAL1): c.1756C> T (p.Arg586Trp)single nucleotide variantPathogenicrs119473038GRCh37Chr 2, 217311786: 217311786
9SMARCAL1SMARCAL1, 4-BP DEL, 1146AAGTdeletionPathogenic
10SMARCAL1NM_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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Biological processes related to Schimke Immunoosseous Dysplasia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1ossificationGO:00015039.1COL2A1, PTN

Sources for Schimke Immunoosseous Dysplasia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet