MCID: SCH016
MIFTS: 46

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

Aliases & Classifications for Schimke Immunoosseous Dysplasia

About this section
Sources:
45OMIM, 10diseasecard, 19GeneReviews, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 34MESH via Orphanet, 61UMLS via Orphanet, 26ICD10 via Orphanet
See all sources

Schimke Immunoosseous Dysplasia, Aliases & Descriptions:

Name: Schimke Immunoosseous Dysplasia 45 10 19 41 21 43
Schimke Immuno-Osseous Dysplasia 41 20 21 47 22
Immunoosseous Dysplasia, Schimke Type 45 41 21
Sulfocysteinuria 41 47 60
Spondyloepiphyseal Dysplasia - Nephrotic Syndrome 41 47
Isolated Sulfite Oxidase Deficiency 41 47
Spondyloepiphyseal Dysplasia 19 60
 
Schimke Syndrome 41 47
Siod 41 21
Isod 41 47
Spondyloepiphyseal Dysplasia Nephrotic Syndrome 41
Spondyloepiphyseal Dysplasia, Congenita 60
Mucopolysaccharidosis Iv 60
Autosomal Recessive 19


Classifications:



Characteristics (Orphanet epidemiological data):

47
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:

OMIM45 242900
Orphanet47 1830, 99731
MESH via Orphanet34 C536629
UMLS via Orphanet61 C0877024
ICD10 via Orphanet26 E72.1

Summaries for Schimke Immunoosseous Dysplasia

About this section


NIH Rare Diseases:41 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: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:45 242900

GeneReviews summary for siod

Related Diseases for Schimke Immunoosseous Dysplasia

About this section

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

(show top 50)    (show all 3551)
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 dislocations10.8
8muscular dystrophy10.7
9spasticity10.7
10hypotrichosis10.7
11microcephaly10.6
12osteopetrosis10.6
13autosomal recessive congenital ichthyosis10.6
14sed, maroteaux type10.6
15myopathy10.6
16pseudoachondroplasia10.6
17limb-girdle muscular dystrophy10.6
18cerebellar ataxia10.6
19spondyloepiphyseal dysplasia-brachydactyly and distinctive speech10.6
20nephrotic syndrome10.6
21arthropathy, progressive pseudorheumatoid, of childhood10.5
22osteoarthritis10.5
23cutis laxa10.5
24autosomal recessive disease10.5
25chronic granulomatous disease10.5
26molybdenum cofactor deficiency10.5
27spondyloepiphyseal dysplasia, kimberley type10.5
28arthropathy10.5
29cataract10.5
30ectodermal dysplasia10.5
31spondyloepiphyseal dysplasia tarda, autosomal dominant10.5
32charcot-marie-tooth disease10.5
33tooth disease10.5
34evans' syndrome10.4
35arteriosclerosis10.4
36neuromyotonia and axonal neuropathy, autosomal recessive10.4
37spinocerebellar ataxia, autosomal recessive 810.4
38alport syndrome10.4
39carasil syndrome10.4
40spondyloepiphyseal dysplasia tarda toledo type10.4
41spondyloepiphyseal dysplasia, nishimura type10.4
42spondyloepiphyseal dysplasia, macdermot type10.4
43arsacs10.4
44renal tubular acidosis, distal, autosomal recessive10.4
45hyper-ige recurrent infection syndrome, autosomal recessive10.4
46cutis laxa, autosomal recessive type 110.4
47roifman syndrome10.4
48pulmonary embolism10.4
49autoimmune enteropathy10.4
50mental retardation10.4

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

Symptoms by clinical synopsis from OMIM:

242900

Clinical features from OMIM:

242900

Symptoms:

 47 (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

About this section

Drug clinical trials:

Search ClinicalTrials for Schimke Immunoosseous Dysplasia

Search NIH Clinical Center for Schimke Immunoosseous Dysplasia

Genetic Tests for Schimke Immunoosseous Dysplasia

About this section

Genetic tests related to Schimke Immunoosseous Dysplasia:

id Genetic test Affiliating Genes
1 Schimke Immunoosseous Dysplasia20 22 SMARCAL1

Anatomical Context for Schimke Immunoosseous Dysplasia

About this section

MalaCards organs/tissues related to Schimke Immunoosseous Dysplasia:

31
Bone, Kidney, T cells, Bone marrow, Eye, Thyroid

Animal Models for Schimke Immunoosseous Dysplasia or affiliated genes

About this section

Publications for Schimke Immunoosseous Dysplasia

About this section

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

UniProtKB/Swiss-Prot 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

Clinvar genetic disease variations for Schimke Immunoosseous Dysplasia:

6
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

About this section
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
  • Proteins
  • Kits and Assays

Sources for Schimke Immunoosseous Dysplasia

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet