MCID: SCH016
MIFTS: 53

Schimke Immunoosseous Dysplasia malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Nephrological diseases, Bone diseases, Metabolic diseases, Fetal diseases, Blood diseases, Oral diseases, Immune diseases categories

Summaries for Schimke Immunoosseous Dysplasia

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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 based summary: Schimke Immunoosseous Dysplasia, also known as schimke immuno-osseous dysplasia, is related to spondyloepiphyseal dysplasia tarda and sed congenita, 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, kidney and t cells.

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.

Description from OMIM:47 242900

GeneReviews summary for siod

Aliases & Classifications for Schimke Immunoosseous Dysplasia

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Sources:
47OMIM, 11diseasecard, 21GeneReviews, 43NIH Rare Diseases, 23Genetics Home Reference, 45Novoseek, 49Orphanet, 22GeneTests, 24GTR, 62UMLS, 36MESH via Orphanet, 63UMLS via Orphanet, 28ICD10 via Orphanet
See all sources

Schimke Immunoosseous Dysplasia, Aliases & Descriptions:

Name: Schimke Immunoosseous Dysplasia 47 11 21 43 23 45
Schimke Immuno-Osseous Dysplasia 43 22 23 49 24
Immunoosseous Dysplasia, Schimke Type 47 43 23
Spondyloepiphyseal Dysplasia - Nephrotic Syndrome 43 49
Isolated Sulfite Oxidase Deficiency 43 49
Schimke Syndrome 43 49
Sulfocysteinuria 43 49
 
Isod 43 49
Siod 43 23
Spondyloepiphyseal Dysplasia Nephrotic Syndrome 43
Spondylo-Epiphyseal Dysplasia 62
Spondyloepiphyseal Dysplasia 21
Autosomal Recessive 21


Classifications:



Characteristics (Orphanet epidemiological data):

49
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:

OMIM47 242900
Orphanet49 1830, 99731
MESH via Orphanet36 C536629
UMLS via Orphanet63 C0877024
ICD10 via Orphanet28 E72.1

Related Diseases for Schimke Immunoosseous Dysplasia

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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 3550)
idRelated DiseaseScoreTop Affiliating Genes
1spondyloepiphyseal dysplasia tarda11.0
2sed congenita10.8
3retinitis pigmentosa10.8
4ataxia10.8
5polycystic kidney disease10.8
6kidney disease10.8
7spondyloepiphyseal dysplasia with congenital joint dislocations10.7
8muscular dystrophy10.7
9spasticity10.7
10hypotrichosis10.7
11microcephaly10.6
12osteopetrosis10.6
13pseudoachondroplasia10.6
14autosomal recessive congenital ichthyosis10.6
15myopathy10.6
16sed, maroteaux type10.6
17limb-girdle muscular dystrophy10.6
18cerebellar ataxia10.6
19nephrotic syndrome10.6
20arthropathy, progressive pseudorheumatoid, of childhood10.5
21osteoarthritis10.5
22spondyloepiphyseal dysplasia-brachydactyly and distinctive speech10.5
23cutis laxa10.5
24chronic granulomatous disease10.5
25autosomal recessive disease10.5
26molybdenum cofactor deficiency10.5
27arthropathy10.5
28cataract10.5
29ectodermal dysplasia10.5
30spondyloepiphyseal dysplasia, kimberley type10.5
31charcot-marie-tooth disease10.5
32tooth disease10.5
33evans' syndrome10.4
34arteriosclerosis10.4
35alport syndrome10.4
36arsacs10.4
37neuromyotonia and axonal neuropathy, autosomal recessive10.4
38carasil syndrome10.4
39hyper-ige recurrent infection syndrome, autosomal recessive10.4
40spinocerebellar ataxia, autosomal recessive 810.4
41renal tubular acidosis, distal, autosomal recessive10.4
42segawa syndrome, recessive10.4
43roifman syndrome10.4
44pulmonary embolism10.4
45autoimmune enteropathy10.4
46mental retardation10.4
47seizure disorder10.4
48hereditary spastic paraplegia10.4
49albinism10.4
50cutis laxa, autosomal recessive type 110.4

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:

 49 (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 60)
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 abnormality of the hip bone hallmark (90%) HP:0003272
11 hyperlordosis hallmark (90%) HP:0003307
12 abnormal form of the vertebral bodies hallmark (90%) HP:0003312
13 short stature hallmark (90%) HP:0004322
14 abnormal nasal morphology hallmark (90%) HP:0005105
15 depressed nasal bridge hallmark (90%) HP:0005280
16 cellular immunodeficiency hallmark (90%) HP:0005374
17 abnormality of the epiphyses hallmark (90%) HP:0005930
18 glomerulopathy hallmark (90%) HP:0100820
19 cafe-au-lait spot typical (50%) HP:0000957
20 autosomal recessive inheritance HP:0000007
21 renal insufficiency HP:0000083
22 proteinuria HP:0000093
23 focal segmental glomerulosclerosis HP:0000097
24 nephrotic syndrome HP:0000100
25 bulbous nose HP:0000414
26 short neck HP:0000470
27 astigmatism HP:0000483
28 myopia HP:0000545
29 microdontia HP:0000691
30 hypertension HP:0000822
31 platyspondyly HP:0000926
32 osteopenia HP:0000938
33 hypermelanotic macule HP:0001034
34 motor delay HP:0001270
35 intrauterine growth retardation HP:0001511
36 high pitched voice HP:0001620
37 thrombocytopenia HP:0001873
38 neutropenia HP:0001875
39 lymphopenia HP:0001888
40 anemia HP:0001903
41 coarse hair HP:0002208
42 fine hair HP:0002213
43 transient ischemic attack HP:0002326
44 waddling gait HP:0002515
45 arteriosclerosis HP:0002634
46 spondyloepiphyseal dysplasia HP:0002655
47 recurrent infections HP:0002719
48 abnormality of t cells HP:0002843
49 thyroid-stimulating hormone excess HP:0002925
50 lumbar hyperlordosis HP:0002938
51 thoracic kyphosis HP:0002942
52 hypoplasia of the capital femoral epiphysis HP:0003090
53 shallow acetabular fossae HP:0003182
54 ovoid vertebral bodies HP:0003300
55 disproportionate short-trunk short stature HP:0003521
56 abnormality of the abdominal wall HP:0004298
57 depressed nasal bridge HP:0005280
58 lateral displacement of the femoral head HP:0006453
59 opacification of the corneal stroma HP:0007759
60 abnormal immunoglobulin level HP:0010701

Drugs & Therapeutics for Schimke Immunoosseous Dysplasia

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Drug clinical trials:

Search ClinicalTrials for Schimke Immunoosseous Dysplasia

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, Kidney, T cells, Bone marrow, Eye, Thyroid

Animal Models for Schimke Immunoosseous Dysplasia or affiliated genes

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Publications for Schimke Immunoosseous Dysplasia

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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

Variations for Schimke Immunoosseous Dysplasia

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

64 (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:

7
id Gene Variation 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

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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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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
  • Proteins
  • Kits and Assays

Sources for Schimke Immunoosseous Dysplasia

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet