MCID: SCH016
MIFTS: 47

Schimke Immunoosseous Dysplasia

Categories: Genetic diseases, Rare diseases, Nephrological diseases, Bone diseases, Fetal diseases, Blood diseases, Oral diseases, Immune diseases

Aliases & Classifications for Schimke Immunoosseous Dysplasia

MalaCards integrated aliases for Schimke Immunoosseous Dysplasia:

Name: Schimke Immunoosseous Dysplasia 54 12 23 50 24 25 71 29 13 52 42
Schimke Immuno-Osseous Dysplasia 12 25 56 71 14
Immunoosseous Dysplasia, Schimke Type 50 25 71
Schimke Syndrome 12 50 56
Siod 50 25 71
Spondylo-Epiphyseal Dysplasia, Autosomal Recessive 24
Spondyloepiphyseal Dysplasia - Nephrotic Syndrome 12
Spondyloepiphyseal Dysplasia, Autosomal Recessive 24
Spondyloepiphyseal Dysplasia Nephrotic Syndrome 50
Spondyloepiphyseal Dysplasia-Nephrotic Syndrome 56
Immunoosseous Dysplasia Schimke Type 12

Characteristics:

Orphanet epidemiological data:

56
schimke immuno-osseous dysplasia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: adolescent,early childhood,late childhood;

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
waddling gait
marked variation in severity - severe early onset disease (neonatal period) and milder juvenile disease (onset 8-13 years)


HPO:

32
schimke immunoosseous dysplasia:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Schimke Immunoosseous Dysplasia

NIH Rare Diseases : 50 schimke immunoosseous dysplasia (siod) is a condition that results in short stature, kidney disease (nephropathy), and a weakened immune system. some people develop a severe form in early childhood, and others develop a milder form in childhood or later. short stature is due to spondyloepiphyseal dysplasia, which involves abnormal development of the spine and the ends of the long bones. nearly all people with siod have kidney disease, which progresses to end-stage renal disease. most people with siod also have t-cell deficiency causing an increased risk for infections, which can be life-threatening. siod is caused by mutations in the smarcal1 gene and inheritance is autosomal recessive. treatment depends on the symptoms and severity in each person. the severe, early-onset form can be life-threatening in childhood, while people with a milder form may survive to adulthood if kidney disease is appropriately treated. last updated: 9/18/2017

MalaCards based summary : Schimke Immunoosseous Dysplasia, also known as schimke immuno-osseous dysplasia, is related to nephrotic syndrome and arteriosclerosis, and has symptoms including bulbous nose, thrombocytopenia and anemia. An important gene associated with Schimke Immunoosseous Dysplasia is SMARCAL1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A Like 1), and among its related pathways/superpathways are Chromatin Regulation / Acetylation and Ectoderm Differentiation. Affiliated tissues include bone, t cells and kidney, and related phenotype is cellular.

UniProtKB/Swiss-Prot : 71 Schimke immuno-osseous dysplasia: An autosomal recessive pleiotropic disorder characterized by spondyloepiphyseal dysplasia, renal dysfunction and immunodeficiency. Arteriosclerosis may also occur in some case.

Genetics Home Reference : 25 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.

Disease Ontology : 12 A spondyloepiphyseal dysplasia characterized by short stature with hyperpigmented macules, unusual facies, proteinuria with progressive renal failure, lymphopenia with recurrent infections, and cerebral ischaemia. It has material basis in mutations in the SMARCAL1 gene.

Description from OMIM: 242900
GeneReviews: NBK1376

Related Diseases for Schimke Immunoosseous Dysplasia

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



Diseases related to Schimke Immunoosseous Dysplasia

Symptoms & Phenotypes for Schimke Immunoosseous Dysplasia

Symptoms via clinical synopsis from OMIM:

54

Hematology:
neutropenia
thrombocytopenia
anemia
lymphopenia

Genitourinary- Kidneys:
renal failure
hypertension
nephrotic syndrome
focal segmental glomerulosclerosis
scarred glomerular tufts
more
Head And Neck- Nose:
depressed nasal bridge
bulbous nasal tip

Skeletal- Spine:
platyspondyly
ovoid vertebral bodies
lumbar lordosis
thoracic kyphosis

Neurologic- Central Nervous System:
motor delay
normal intelligence
transient ischemic attacks
moyamoya
cerebral infarcts

Skin Nails & Hair- Hair:
coarse hair
fine hair

Growth- Other:
intrauterine growth retardation (50%)
short trunk

Abdomen- External Features:
protruding abdomen

Skeletal- Limbs:
small capital femoral epiphyses
laterally displaced femoral heads

Voice:
high pitched voice

Immunology:
recurrent infections (fungal, viral, bacterial)
defective cellular immunity
absent mitogenic response
t-cell deficiency
decreased cd4+ and cd3+/cd4+ lymphocytes
more
Head And Neck- Eyes:
myopia
corneal opacities
astigmatism

Laboratory- Abnormalities:
proteinuria

Growth- Height:
short stature, disproportionate
adult male height 136-157 cm
adult female height 107-143 cm

Head And Neck- Neck:
short neck

Skeletal:
osteopenia
spondyloepiphyseal dysplasia

Head And Neck- Teeth:
microdontia

Cardiovascular- Vascular:
arteriosclerosis
hypertension, renal

Skeletal- Pelvis:
short, broad iliac bones
slanted acetabular roofs
shallow acetabular fossae

Skin Nails & Hair- Skin:
hyperpigmented macules

Endocrine Features:
elevated thyroid stimulating hormone (tsh)
normal growth hormone studies


Clinical features from OMIM:

242900

Human phenotypes related to Schimke Immunoosseous Dysplasia:

56 32 (show all 48)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 bulbous nose 56 32 hallmark (90%) Very frequent (99-80%) HP:0000414
2 thrombocytopenia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001873
3 anemia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001903
4 proteinuria 56 32 hallmark (90%) Very frequent (99-80%) HP:0000093
5 depressed nasal bridge 56 32 hallmark (90%) Very frequent (99-80%) HP:0005280
6 lymphopenia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001888
7 platyspondyly 56 32 hallmark (90%) Very frequent (99-80%) HP:0000926
8 intrauterine growth retardation 56 32 very rare (1%) Very frequent (99-80%) HP:0001511
9 hip dislocation 56 32 hallmark (90%) Very frequent (99-80%) HP:0002827
10 short neck 56 32 hallmark (90%) Very frequent (99-80%) HP:0000470
11 nephrotic syndrome 56 32 hallmark (90%) Very frequent (99-80%) HP:0000100
12 hyperlordosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0003307
13 microdontia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000691
14 ovoid vertebral bodies 56 32 hallmark (90%) Very frequent (99-80%) HP:0003300
15 cellular immunodeficiency 56 32 hallmark (90%) Very frequent (99-80%) HP:0005374
16 multiple cafe-au-lait spots 56 32 frequent (33%) Frequent (79-30%) HP:0007565
17 abnormality of epiphysis morphology 56 32 hallmark (90%) Very frequent (99-80%) HP:0005930
18 disproportionate short-trunk short stature 56 32 hallmark (90%) Very frequent (99-80%) HP:0003521
19 melanocytic nevus 56 32 hallmark (90%) Very frequent (99-80%) HP:0000995
20 glomerulopathy 56 32 hallmark (90%) Very frequent (99-80%) HP:0100820
21 abnormality of t cells 56 32 hallmark (90%) Very frequent (99-80%) HP:0002843
22 recurrent infections 32 HP:0002719
23 neutropenia 32 HP:0001875
24 myopia 32 HP:0000545
25 lumbar hyperlordosis 32 HP:0002938
26 renal insufficiency 32 HP:0000083
27 protuberant abdomen 32 HP:0001538
28 waddling gait 32 HP:0002515
29 motor delay 32 HP:0001270
30 osteopenia 32 HP:0000938
31 hypertension 32 HP:0000822
32 astigmatism 32 HP:0000483
33 coarse hair 32 HP:0002208
34 focal segmental glomerulosclerosis 32 HP:0000097
35 fine hair 32 HP:0002213
36 spondyloepiphyseal dysplasia 32 HP:0002655
37 arteriosclerosis 32 HP:0002634
38 thoracic kyphosis 32 HP:0002942
39 shallow acetabular fossae 32 HP:0003182
40 high pitched voice 32 HP:0001620
41 transient ischemic attack 32 HP:0002326
42 opacification of the corneal stroma 32 HP:0007759
43 abnormal form of the vertebral bodies 56 Very frequent (99-80%)
44 hypermelanotic macule 32 HP:0001034
45 abnormal immunoglobulin level 32 HP:0010701
46 hypoplasia of the capital femoral epiphysis 32 HP:0003090
47 increased thyroid-stimulating hormone level 32 HP:0002925
48 lateral displacement of the femoral head 32 HP:0006453

MGI Mouse Phenotypes related to Schimke Immunoosseous Dysplasia:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.02 BAZ1A SMARCA2 SMARCA4 SMARCAL1 ASTN1

Drugs & Therapeutics for Schimke Immunoosseous Dysplasia

Search Clinical Trials , NIH Clinical Center for Schimke Immunoosseous Dysplasia

Cochrane evidence based reviews: schimke immunoosseous dysplasia

Genetic Tests for Schimke Immunoosseous Dysplasia

Genetic tests related to Schimke Immunoosseous Dysplasia:

id Genetic test Affiliating Genes
1 Schimke Immunoosseous Dysplasia 29 24 SMARCAL1

Anatomical Context for Schimke Immunoosseous Dysplasia

MalaCards organs/tissues related to Schimke Immunoosseous Dysplasia:

39
Bone, T Cells, Kidney, Thyroid

Publications for Schimke Immunoosseous Dysplasia

Articles related to Schimke Immunoosseous Dysplasia:

(show all 15)
id Title Authors Year
1
A novel SMARCAL1 missense mutation that affects splicing in a severely affected Schimke immunoosseous dysplasia patient. ( 27282802 )
2016
2
A novel splice site mutation in SMARCAL1 results in aberrant exon definition in a child with schimke immunoosseous dysplasia. ( 25943327 )
2015
3
Schimke Immunoosseous Dysplasia associated with undifferentiated carcinoma and a novel SMARCAL1 mutation in a child. ( 23630135 )
2013
4
Schimke immunoosseous dysplasia: defining skeletal features. ( 20013129 )
2010
5
Pulmonary embolism--a rare complication of Schimke immunoosseous dysplasia. ( 17195070 )
2007
6
Schimke immunoosseous dysplasia: suggestions of genetic diversity. ( 17089404 )
2007
7
Mitochondrial function in schimke-immunoosseous dysplasia. ( 16167201 )
2005
8
Clinical quiz. Schimke immunoosseous dysplasia syndrome (SIOD). ( 11465814 )
2001
9
Mental retardation and seizure disorder in Schimke immunoosseous dysplasia. ( 10710226 )
2000
10
Autoimmune enteropathy in Schimke immunoosseous dysplasia. ( 9632175 )
1998
11
Schimke immunoosseous dysplasia complicated by moyamoya phenomenon. ( 9674900 )
1998
12
Spondyloepiphyseal dysplasia with nephrotic syndrome (Schimke immunoosseous dysplasia). ( 9039659 )
1997
13
Juvenile variant of Schimke immunoosseous dysplasia. ( 8209883 )
1994
14
Spondyloepiphyseal dysplasia with nephrotic syndrome (Schimke immunoosseous dysplasia). ( 8209884 )
1994
15
Schimke Immunoosseous Dysplasia ( 20301550 )
1993

Variations for Schimke Immunoosseous Dysplasia

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

71 (show all 11)
id Symbol AA change Variation ID SNP ID
1 SMARCAL1 p.Ala468Pro VAR_021370
2 SMARCAL1 p.Ile548Asn VAR_021371 rs119473036
3 SMARCAL1 p.Ser579Leu VAR_021372
4 SMARCAL1 p.Arg586Trp VAR_021373 rs119473038
5 SMARCAL1 p.Arg644Trp VAR_021374
6 SMARCAL1 p.Arg645Cys VAR_021375 rs119473037
7 SMARCAL1 p.Lys647Gln VAR_021376
8 SMARCAL1 p.Lys647Thr VAR_021377
9 SMARCAL1 p.Thr705Ile VAR_021379 rs200644381
10 SMARCAL1 p.Arg764Gln VAR_021381 rs267607071
11 SMARCAL1 p.Arg820His VAR_021382 rs200666300

ClinVar genetic disease variations for Schimke Immunoosseous Dysplasia:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 SMARCAL1 NM_014140.3(SMARCAL1): c.2542G> T (p.Glu848Ter) single nucleotide variant Pathogenic rs119473033 GRCh37 Chromosome 2, 217342939: 217342939
2 SMARCAL1 NM_014140.3(SMARCAL1): c.49C> T (p.Arg17Ter) single nucleotide variant Pathogenic rs119473034 GRCh37 Chromosome 2, 217279476: 217279476
3 SMARCAL1 NM_014140.3(SMARCAL1): c.100C> T (p.Gln34Ter) single nucleotide variant Pathogenic rs119473035 GRCh37 Chromosome 2, 217279527: 217279527
4 SMARCAL1 NM_014140.3(SMARCAL1): c.1643T> A (p.Ile548Asn) single nucleotide variant Pathogenic rs119473036 GRCh37 Chromosome 2, 217300218: 217300218
5 SMARCAL1 NM_014140.3(SMARCAL1): c.1933C> T (p.Arg645Cys) single nucleotide variant Pathogenic rs119473037 GRCh37 Chromosome 2, 217315650: 217315650
6 SMARCAL1 NM_014140.3(SMARCAL1): c.1756C> T (p.Arg586Trp) single nucleotide variant Pathogenic rs119473038 GRCh37 Chromosome 2, 217311786: 217311786
7 SMARCAL1 SMARCAL1, 4-BP DEL, 1146AAGT deletion Pathogenic
8 SMARCAL1 NM_014140.3(SMARCAL1): c.2291G> A (p.Arg764Gln) single nucleotide variant Pathogenic rs267607071 GRCh37 Chromosome 2, 217340038: 217340038
9 SMARCAL1 NM_014140.3(SMARCAL1): c.1132G> T (p.Glu378Ter) single nucleotide variant Pathogenic rs864309531 GRCh37 Chromosome 2, 217288391: 217288391

Expression for Schimke Immunoosseous Dysplasia

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

Pathways for Schimke Immunoosseous Dysplasia

Pathways related to Schimke Immunoosseous Dysplasia according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 11.5 BAZ1A SMARCA2 SMARCA4
2 11.48 ASTN1 BAZ1A
3
Show member pathways
11.18 SMARCA2 SMARCA4
4
Show member pathways
11.03 SMARCA2 SMARCA4 SMARCAL1
5
Show member pathways
11 SMARCA2 SMARCA4

GO Terms for Schimke Immunoosseous Dysplasia

Cellular components related to Schimke Immunoosseous Dysplasia according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 SWI/SNF complex GO:0016514 9.16 SMARCA2 SMARCA4
2 nBAF complex GO:0071565 8.96 SMARCA2 SMARCA4
3 npBAF complex GO:0071564 8.62 SMARCA2 SMARCA4

Biological processes related to Schimke Immunoosseous Dysplasia according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 negative regulation of cell growth GO:0030308 9.16 SMARCA2 SMARCA4
2 regulation of transcription from RNA polymerase II promoter GO:0006357 9.13 SMARCA2 SMARCA4 SMARCAL1
3 chromatin remodeling GO:0006338 8.8 BAZ1A SMARCA2 SMARCA4

Molecular functions related to Schimke Immunoosseous Dysplasia according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 helicase activity GO:0004386 9.33 SMARCA2 SMARCA4 SMARCAL1
2 histone binding GO:0042393 9.32 SMARCA2 SMARCA4
3 RNA polymerase II transcription coactivator activity GO:0001105 9.26 SMARCA2 SMARCA4
4 hydrolase activity, acting on acid anhydrides GO:0016817 8.96 SMARCA2 SMARCA4
5 DNA-dependent ATPase activity GO:0008094 8.8 SMARCA2 SMARCA4 SMARCAL1

Sources for Schimke Immunoosseous Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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