MCID: SCH016
MIFTS: 47

Schimke Immunoosseous Dysplasia

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

Aliases & Classifications for Schimke Immunoosseous Dysplasia

MalaCards integrated aliases for Schimke Immunoosseous Dysplasia:

Name: Schimke Immunoosseous Dysplasia 53 12 23 49 24 71 36 28 13 51 41
Schimke Immuno-Osseous Dysplasia 12 49 24 55 71 14
Immunoosseous Dysplasia, Schimke Type 53 49 24 71
Siod 53 49 24 71
Schimke Syndrome 12 49 55
Spondyloepiphyseal Dysplasia - Nephrotic Syndrome 12
Spondyloepiphyseal Dysplasia Nephrotic Syndrome 49
Spondyloepiphyseal Dysplasia-Nephrotic Syndrome 55
Immunoosseous Dysplasia Schimke Type 12

Characteristics:

Orphanet epidemiological data:

55
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:

53
Miscellaneous:
waddling gait
marked variation in severity - severe early onset disease (neonatal period) and milder juvenile disease (onset 8-13 years)

Inheritance:
autosomal recessive


HPO:

31
schimke immunoosseous dysplasia:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Schimke Immunoosseous Dysplasia

NIH Rare Diseases : 49 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 spondyloepiphyseal dysplasia with congenital joint dislocations and nephrotic syndrome, and has symptoms including short neck, abnormality of epiphysis morphology and hyperlordosis. 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 t cells, bone 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 : 24 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:

53
Head And Neck Neck:
short neck

Skeletal:
osteopenia
spondyloepiphyseal dysplasia

Skin Nails Hair Hair:
coarse hair
fine hair

Hematology:
anemia
thrombocytopenia
lymphopenia
neutropenia

Head And Neck Teeth:
microdontia

Voice:
high pitched voice

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

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

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

Abdomen External Features:
protruding abdomen

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

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

Laboratory Abnormalities:
proteinuria

Skeletal Spine:
ovoid vertebral bodies
platyspondyly
thoracic kyphosis
lumbar lordosis

Head And Neck Eyes:
myopia
astigmatism
corneal opacities

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

Cardiovascular Vascular:
arteriosclerosis
hypertension, renal

Skeletal Limbs:
small capital femoral epiphyses
laterally displaced femoral heads

Immunology:
t-cell deficiency
recurrent infections (fungal, viral, bacterial)
defective cellular immunity
absent mitogenic response
decreased cd4+ and cd3+/cd4+ lymphocytes
more
Skin Nails Hair Skin:
hyperpigmented macules


Clinical features from OMIM:

242900

Human phenotypes related to Schimke Immunoosseous Dysplasia:

55 31 (show all 49)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short neck 55 31 hallmark (90%) Very frequent (99-80%) HP:0000470
2 abnormality of epiphysis morphology 55 31 hallmark (90%) Very frequent (99-80%) HP:0005930
3 hyperlordosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0003307
4 depressed nasal bridge 55 31 hallmark (90%) Very frequent (99-80%) HP:0005280
5 proteinuria 55 31 hallmark (90%) Very frequent (99-80%) HP:0000093
6 anemia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001903
7 ovoid vertebral bodies 55 31 hallmark (90%) Very frequent (99-80%) HP:0003300
8 disproportionate short-trunk short stature 55 31 hallmark (90%) Very frequent (99-80%) HP:0003521
9 platyspondyly 55 31 hallmark (90%) Very frequent (99-80%) HP:0000926
10 microdontia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000691
11 intrauterine growth retardation 55 31 very rare (1%) Very frequent (99-80%) HP:0001511
12 melanocytic nevus 55 31 hallmark (90%) Very frequent (99-80%) HP:0000995
13 thrombocytopenia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001873
14 nephrotic syndrome 55 31 hallmark (90%) Very frequent (99-80%) HP:0000100
15 glomerulopathy 55 31 hallmark (90%) Very frequent (99-80%) HP:0100820
16 hip dislocation 55 31 hallmark (90%) Very frequent (99-80%) HP:0002827
17 lymphopenia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001888
18 cellular immunodeficiency 55 31 hallmark (90%) Very frequent (99-80%) HP:0005374
19 multiple cafe-au-lait spots 55 31 frequent (33%) Frequent (79-30%) HP:0007565
20 bulbous nose 55 31 hallmark (90%) Very frequent (99-80%) HP:0000414
21 waddling gait 31 HP:0002515
22 hypertension 31 HP:0000822
23 osteopenia 31 HP:0000938
24 coarse hair 31 HP:0002208
25 renal insufficiency 31 HP:0000083
26 transient ischemic attack 31 HP:0002326
27 opacification of the corneal stroma 31 HP:0007759
28 abnormal form of the vertebral bodies 55 Very frequent (99-80%)
29 myopia 31 HP:0000545
30 recurrent infections 31 HP:0002719
31 fine hair 31 HP:0002213
32 neutropenia 31 HP:0001875
33 thoracic kyphosis 31 HP:0002942
34 hypermelanotic macule 31 HP:0001034
35 high pitched voice 31 HP:0001620
36 motor delay 31 HP:0001270
37 astigmatism 31 HP:0000483
38 lumbar hyperlordosis 31 HP:0002938
39 abnormality of t cells 55 Very frequent (99-80%)
40 protuberant abdomen 31 HP:0001538
41 shallow acetabular fossae 31 HP:0003182
42 abnormal immunoglobulin level 31 HP:0010701
43 focal segmental glomerulosclerosis 31 HP:0000097
44 spondyloepiphyseal dysplasia 31 HP:0002655
45 arteriosclerosis 31 HP:0002634
46 hypoplasia of the capital femoral epiphysis 31 HP:0003090
47 increased thyroid-stimulating hormone level 31 HP:0002925
48 abnormal t cell morphology 31 hallmark (90%) HP:0002843
49 lateral displacement of the femoral head 31 HP:0006453

MGI Mouse Phenotypes related to Schimke Immunoosseous Dysplasia:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.02 SMARCAL1 ASTN1 BAZ1A SMARCA2 SMARCA4

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:

# Genetic test Affiliating Genes
1 Schimke Immunoosseous Dysplasia 28 SMARCAL1

Anatomical Context for Schimke Immunoosseous Dysplasia

MalaCards organs/tissues related to Schimke Immunoosseous Dysplasia:

38
T Cells, Bone, Kidney, Thyroid

Publications for Schimke Immunoosseous Dysplasia

Articles related to Schimke Immunoosseous Dysplasia:

(show all 15)
# 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
Schimke immunoosseous dysplasia complicated by moyamoya phenomenon. ( 9674900 )
1998
11
Autoimmune enteropathy in Schimke immunoosseous dysplasia. ( 9632175 )
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)
# 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
# Gene Variation Type Significance SNP ID Assembly Location
1 SMARCAL1 SMARCAL1, 4-BP DEL, 1146AAGT deletion Pathogenic
2 SMARCAL1 NM_014140.3(SMARCAL1): c.2542G> T (p.Glu848Ter) single nucleotide variant Pathogenic rs119473033 GRCh37 Chromosome 2, 217342939: 217342939
3 SMARCAL1 NM_014140.3(SMARCAL1): c.49C> T (p.Arg17Ter) single nucleotide variant Pathogenic rs119473034 GRCh37 Chromosome 2, 217279476: 217279476
4 SMARCAL1 NM_014140.3(SMARCAL1): c.100C> T (p.Gln34Ter) single nucleotide variant Pathogenic rs119473035 GRCh37 Chromosome 2, 217279527: 217279527
5 SMARCAL1 NM_014140.3(SMARCAL1): c.1643T> A (p.Ile548Asn) single nucleotide variant Pathogenic rs119473036 GRCh37 Chromosome 2, 217300218: 217300218
6 SMARCAL1 NM_014140.3(SMARCAL1): c.1933C> T (p.Arg645Cys) single nucleotide variant Pathogenic rs119473037 GRCh37 Chromosome 2, 217315650: 217315650
7 SMARCAL1 NM_014140.3(SMARCAL1): c.1756C> T (p.Arg586Trp) single nucleotide variant Pathogenic rs119473038 GRCh37 Chromosome 2, 217311786: 217311786
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
10 SMARCAL1 NM_014140.3(SMARCAL1): c.2321C> A (p.Ser774Ter) single nucleotide variant Pathogenic rs149425324 GRCh38 Chromosome 2, 216475345: 216475345

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:

# Super pathways Score Top Affiliating Genes
1 11.53 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:

# 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:

# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 9.33 SMARCA2 SMARCA4 SMARCAL1
2 negative regulation of cell growth GO:0030308 9.26 SMARCA2 SMARCA4
3 ATP-dependent chromatin remodeling GO:0043044 8.96 SMARCA2 SMARCA4
4 chromatin remodeling GO:0006338 8.8 BAZ1A SMARCA2 SMARCA4

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

# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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