SIOD
MCID: SCH016
MIFTS: 49

Schimke Immunoosseous Dysplasia (SIOD)

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

Aliases & Classifications for Schimke Immunoosseous Dysplasia

MalaCards integrated aliases for Schimke Immunoosseous Dysplasia:

Name: Schimke Immunoosseous Dysplasia 58 12 25 54 26 76 38 30 13 56 6 45 41
Schimke Immuno-Osseous Dysplasia 12 54 26 60 76 15
Immunoosseous Dysplasia, Schimke Type 58 54 26 76
Siod 58 54 26 76
Schimke Syndrome 12 54 60
Spondyloepiphyseal Dysplasia - Nephrotic Syndrome 12
Spondyloepiphyseal Dysplasia Nephrotic Syndrome 54
Spondyloepiphyseal Dysplasia-Nephrotic Syndrome 60
Immunoosseous Dysplasia Schimke Type 12

Characteristics:

Orphanet epidemiological data:

60
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:

58
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:

33
schimke immunoosseous dysplasia:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Schimke Immunoosseous Dysplasia

NIH Rare Diseases : 54 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.

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. 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 phenotypes are short neck and abnormality of epiphysis morphology

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.

Genetics Home Reference : 26 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 : 76 Schimke immuno-osseous dysplasia: An autosomal recessive pleiotropic disorder characterized by spondyloepiphyseal dysplasia, renal dysfunction and immunodeficiency. Arteriosclerosis may also occur in some case.

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

Human phenotypes related to Schimke Immunoosseous Dysplasia:

60 33 (show all 48)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short neck 60 33 hallmark (90%) Very frequent (99-80%) HP:0000470
2 abnormality of epiphysis morphology 60 33 hallmark (90%) Very frequent (99-80%) HP:0005930
3 hyperlordosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0003307
4 depressed nasal bridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0005280
5 proteinuria 60 33 hallmark (90%) Very frequent (99-80%) HP:0000093
6 anemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001903
7 ovoid vertebral bodies 60 33 hallmark (90%) Very frequent (99-80%) HP:0003300
8 disproportionate short-trunk short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0003521
9 platyspondyly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000926
10 microdontia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000691
11 intrauterine growth retardation 60 33 very rare (1%) Very frequent (99-80%) HP:0001511
12 melanocytic nevus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000995
13 thrombocytopenia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001873
14 nephrotic syndrome 60 33 hallmark (90%) Very frequent (99-80%) HP:0000100
15 glomerulopathy 60 33 hallmark (90%) Very frequent (99-80%) HP:0100820
16 hip dislocation 60 33 hallmark (90%) Very frequent (99-80%) HP:0002827
17 lymphopenia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001888
18 cellular immunodeficiency 60 33 hallmark (90%) Very frequent (99-80%) HP:0005374
19 bulbous nose 60 33 hallmark (90%) Very frequent (99-80%) HP:0000414
20 abnormal t cell morphology 60 33 hallmark (90%) Very frequent (99-80%) HP:0002843
21 multiple cafe-au-lait spots 60 33 frequent (33%) Frequent (79-30%) HP:0007565
22 hypertension 33 HP:0000822
23 osteopenia 33 HP:0000938
24 coarse hair 33 HP:0002208
25 renal insufficiency 33 HP:0000083
26 transient ischemic attack 33 HP:0002326
27 opacification of the corneal stroma 33 HP:0007759
28 abnormal form of the vertebral bodies 60 Very frequent (99-80%)
29 myopia 33 HP:0000545
30 waddling gait 33 HP:0002515
31 motor delay 33 HP:0001270
32 recurrent infections 33 HP:0002719
33 fine hair 33 HP:0002213
34 neutropenia 33 HP:0001875
35 thoracic kyphosis 33 HP:0002942
36 abnormal immunoglobulin level 33 HP:0010701
37 hypermelanotic macule 33 HP:0001034
38 high pitched voice 33 HP:0001620
39 astigmatism 33 HP:0000483
40 lumbar hyperlordosis 33 HP:0002938
41 focal segmental glomerulosclerosis 33 HP:0000097
42 protuberant abdomen 33 HP:0001538
43 shallow acetabular fossae 33 HP:0003182
44 increased thyroid-stimulating hormone level 33 HP:0002925
45 spondyloepiphyseal dysplasia 33 HP:0002655
46 arteriosclerosis 33 HP:0002634
47 hypoplasia of the capital femoral epiphysis 33 HP:0003090
48 lateral displacement of the femoral head 33 HP:0006453

Symptoms via clinical synopsis from OMIM:

58
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

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

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

Voice:
high pitched voice

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

MGI Mouse Phenotypes related to Schimke Immunoosseous Dysplasia:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.43 ASTN1 BAZ1A SMARCA1 SMARCA2 SMARCA4 SMARCAL1
2 growth/size/body region MP:0005378 9.02 BAZ1A SMARCA1 SMARCA2 SMARCA4 SMARCAL1

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 30 SMARCAL1

Anatomical Context for Schimke Immunoosseous Dysplasia

MalaCards organs/tissues related to Schimke Immunoosseous Dysplasia:

42
Bone, T Cells, Kidney, Thyroid, Bone Marrow

Publications for Schimke Immunoosseous Dysplasia

Articles related to Schimke Immunoosseous Dysplasia:

(show top 50) (show all 75)
# Title Authors Year
1
Klippel-Feil syndrome as a novel feature of Schimke immunoosseous dysplasia. ( 30784191 )
2019
2
Reversible Cerebral Vasoconstriction Syndrome: A Novel Mechanism for Neurological Complications in Schimke Immuno-osseous Dysplasia. ( 30635151 )
2019
3
Schimke immunoosseous dysplasia and management considerations for vascular risks. ( 31039288 )
2019
4
Reversible cerebral vasoconstriction complicating cerebral atherosclerotic vascular disease in Schimke immuno-osseous dysplasia. ( 29978300 )
2018
5
Successful transcarotid transcatheter aortic valve replacement in a 34-kg patient with Schimke immuno-osseous dysplasia and severe biscuspid aortic stenosis. ( 29747711 )
2018
6
Early Onset Cerebral Infarction in Schimke Immuno-Osseous Dysplasia. ( 30026777 )
2018
7
Diffuse Carotid Arteriosclerosis and Stroke in a Patient With Schimke Immuno-osseous Dysplasia. ( 28412018 )
2017
8
Low renal but high extrarenal phenotype variability in Schimke immuno-osseous dysplasia. ( 28796785 )
2017
9
A novel SMARCAL1 missense mutation that affects splicing in a severely affected Schimke immunoosseous dysplasia patient. ( 27282802 )
2016
10
Eltrombopag (thrombopoietin-receptor agonist) and plasmapheresis as rescue therapy of acute post-renal transplant immune thrombocytopenia in a child with Schimke immuno-osseous dysplasia-case report. ( 27671102 )
2016
11
Chromatin changes in SMARCAL1 deficiency: A hypothesis for the gene expression alterations of Schimke immuno-osseous dysplasia. ( 27813696 )
2016
12
Increased Wnt and Notch signaling: a clue to the renal disease in Schimke immuno-osseous dysplasia? ( 27816064 )
2016
13
Medullary nephrocalcinosis in Schimke immuno-osseous dysplasia. ( 25868949 )
2015
14
A novel splice site mutation in SMARCAL1 results in aberrant exon definition in a child with Schimke immunoosseous dysplasia. ( 25943327 )
2015
15
Insights into the renal pathogenesis in Schimke immuno-osseous dysplasia: A renal histological characterization and expression analysis. ( 25319549 )
2015
16
Tracheobronchial anomalies in a patient with Schimke immuno-osseous dysplasia (SIOD). ( 25428399 )
2015
17
Internal carotid artery surgical revascularization in a pediatric patient with Schimke immuno-osseous dysplasia. ( 25431900 )
2015
18
Transcriptional and posttranscriptional mechanisms contribute to the dysregulation of elastogenesis in Schimke immuno-osseous dysplasia. ( 26309238 )
2015
19
Lack of IL7Rα expression in T cells is a hallmark of T-cell immunodeficiency in Schimke immuno-osseous dysplasia (SIOD). ( 26499378 )
2015
20
Importance of neurologic and cutaneous signs in the diagnosis of Schimke immuno-osseous dysplasia. ( 27411420 )
2015
21
Dental abnormalities and preventive oral care in Schimke immuno-osseous dysplasia. ( 24327104 )
2014
22
A novel SMARCAL1 mutation associated with a mild phenotype of Schimke immuno-osseous dysplasia (SIOD). ( 24589093 )
2014
23
Schimke Immunoosseous Dysplasia associated with undifferentiated carcinoma and a novel SMARCAL1 mutation in a child. ( 23630135 )
2013
24
Integrated multiplex ligation dependent probe amplification (MLPA) assays for the detection of alterations in the HEXB, GM2A and SMARCAL1 genes to support the diagnosis of Morbus Sandhoff, M. Tay-Sachs variant AB and Schimke immuno-osseous dysplasia in humans. ( 23010210 )
2013
25
Bone marrow transplantation in Schimke immuno-osseous dysplasia. ( 23950031 )
2013
26
Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia? ( 22998683 )
2012
27
Dental abnormalities in Schimke immuno-osseous dysplasia. ( 22699664 )
2012
28
Rituximab resistant evans syndrome and autoimmunity in Schimke immuno-osseous dysplasia. ( 21914180 )
2011
29
Non-hodgkin lymphoma in a child with schimke immuno-osseous dysplasia. ( 23359635 )
2011
30
Schimke immunoosseous dysplasia: defining skeletal features. ( 20013129 )
2010
31
Novel compound mutations of SMARCAL1 associated with severe Schimke immuno-osseous dysplasia in a Chinese patient. ( 20179009 )
2010
32
Twenty-four-year-old male patient with infantile onset of Schimke immuno-osseous dysplasia. ( 20723108 )
2010
33
Improved outcome with immunosuppressive monotherapy after renal transplantation in Schimke-immuno-osseous dysplasia. ( 18785907 )
2009
34
Schimke immuno-osseous dysplasia: SMARCAL1 loss-of-function and phenotypic correlation. ( 18805831 )
2009
35
Molecular assessment of thymic capacities in patients with Schimke immuno-osseous dysplasia. ( 19796992 )
2009
36
The annealing helicase HARP protects stalled replication forks. ( 19793864 )
2009
37
Clinical and genetic distinction of Schimke immuno-osseous dysplasia and cartilage-hair hypoplasia. ( 18627050 )
2008
38
Schimke immuno-osseous dysplasia: expression of SMARCAL1 in blood and kidney provides novel insight into disease phenotype. ( 18356746 )
2008
39
Neurologic phenotype of Schimke immuno-osseous dysplasia and neurodevelopmental expression of SMARCAL1. ( 18520775 )
2008
40
Disseminated cutaneous papillomas in Schimke immuno-osseous dysplasia. ( 28656993 )
2008
41
HARP is an ATP-driven annealing helicase. ( 18974355 )
2008
42
Schimke immunoosseous dysplasia: suggestions of genetic diversity. ( 17089404 )
2007
43
Pulmonary embolism--a rare complication of Schimke immunoosseous dysplasia. ( 17195070 )
2007
44
Schimke immuno-osseous dysplasia: a clinicopathological correlation. ( 16840568 )
2007
45
Schimke immuno-osseous dysplasia. ( 17334480 )
2007
46
Cerebellar atrophy in Schimke-immuno-osseous dysplasia. ( 17676601 )
2007
47
Membranous nephropathy in Schimke immuno-osseous dysplasia. ( 16570201 )
2006
48
Schimke immuno-osseous dysplasia: a cell autonomous disorder? ( 16419127 )
2006
49
Vaso-occlusion in Schimke-immuno-osseous dysplasia: is the NO pathway involved? ( 17075778 )
2006
50
Mitochondrial function in schimke-immunoosseous dysplasia. ( 16167201 )
2005

Variations for Schimke Immunoosseous Dysplasia

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

76 (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 rs131365861
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 (show top 50) (show all 147)
# 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.2542G> T (p.Glu848Ter) single nucleotide variant Pathogenic rs119473033 GRCh38 Chromosome 2, 216478216: 216478216
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.49C> T (p.Arg17Ter) single nucleotide variant Pathogenic rs119473034 GRCh38 Chromosome 2, 216414753: 216414753
5 SMARCAL1 NM_014140.3(SMARCAL1): c.100C> T (p.Gln34Ter) single nucleotide variant Pathogenic rs119473035 GRCh37 Chromosome 2, 217279527: 217279527
6 SMARCAL1 NM_014140.3(SMARCAL1): c.100C> T (p.Gln34Ter) single nucleotide variant Pathogenic rs119473035 GRCh38 Chromosome 2, 216414804: 216414804
7 SMARCAL1 NM_014140.3(SMARCAL1): c.1643T> A (p.Ile548Asn) single nucleotide variant Pathogenic rs119473036 GRCh37 Chromosome 2, 217300218: 217300218
8 SMARCAL1 NM_014140.3(SMARCAL1): c.1643T> A (p.Ile548Asn) single nucleotide variant Pathogenic rs119473036 GRCh38 Chromosome 2, 216435495: 216435495
9 SMARCAL1 NM_014140.3(SMARCAL1): c.1933C> T (p.Arg645Cys) single nucleotide variant Pathogenic rs119473037 GRCh37 Chromosome 2, 217315650: 217315650
10 SMARCAL1 NM_014140.3(SMARCAL1): c.1933C> T (p.Arg645Cys) single nucleotide variant Pathogenic rs119473037 GRCh38 Chromosome 2, 216450927: 216450927
11 SMARCAL1 NM_014140.3(SMARCAL1): c.1756C> T (p.Arg586Trp) single nucleotide variant Pathogenic rs119473038 GRCh37 Chromosome 2, 217311786: 217311786
12 SMARCAL1 NM_014140.3(SMARCAL1): c.1756C> T (p.Arg586Trp) single nucleotide variant Pathogenic rs119473038 GRCh38 Chromosome 2, 216447063: 216447063
13 SMARCAL1 SMARCAL1, 4-BP DEL, 1146AAGT deletion Pathogenic
14 SMARCAL1 NM_014140.3(SMARCAL1): c.2291G> A (p.Arg764Gln) single nucleotide variant Pathogenic rs267607071 GRCh37 Chromosome 2, 217340038: 217340038
15 SMARCAL1 NM_014140.3(SMARCAL1): c.2291G> A (p.Arg764Gln) single nucleotide variant Pathogenic rs267607071 GRCh38 Chromosome 2, 216475315: 216475315
16 SMARCAL1 NM_014140.3(SMARCAL1): c.341G> A (p.Arg114His) single nucleotide variant Benign/Likely benign rs11555797 GRCh37 Chromosome 2, 217279768: 217279768
17 SMARCAL1 NM_014140.3(SMARCAL1): c.341G> A (p.Arg114His) single nucleotide variant Benign/Likely benign rs11555797 GRCh38 Chromosome 2, 216415045: 216415045
18 SMARCAL1 NM_014140.3(SMARCAL1): c.960C> T (p.Ala320=) single nucleotide variant Benign/Likely benign rs2066513 GRCh37 Chromosome 2, 217285119: 217285119
19 SMARCAL1 NM_014140.3(SMARCAL1): c.960C> T (p.Ala320=) single nucleotide variant Benign/Likely benign rs2066513 GRCh38 Chromosome 2, 216420396: 216420396
20 SMARCAL1 NM_014140.3(SMARCAL1): c.945C> G (p.Ser315Arg) single nucleotide variant Benign/Likely benign rs2066522 GRCh37 Chromosome 2, 217285104: 217285104
21 SMARCAL1 NM_014140.3(SMARCAL1): c.945C> G (p.Ser315Arg) single nucleotide variant Benign/Likely benign rs2066522 GRCh38 Chromosome 2, 216420381: 216420381
22 SMARCAL1 NM_014140.3(SMARCAL1): c.1129G> C (p.Glu377Gln) single nucleotide variant Benign/Likely benign rs2066518 GRCh37 Chromosome 2, 217288388: 217288388
23 SMARCAL1 NM_014140.3(SMARCAL1): c.1129G> C (p.Glu377Gln) single nucleotide variant Benign/Likely benign rs2066518 GRCh38 Chromosome 2, 216423665: 216423665
24 SMARCAL1 NM_014140.3(SMARCAL1): c.1132G> T (p.Glu378Ter) single nucleotide variant Pathogenic rs864309531 GRCh37 Chromosome 2, 217288391: 217288391
25 SMARCAL1 NM_014140.3(SMARCAL1): c.1132G> T (p.Glu378Ter) single nucleotide variant Pathogenic rs864309531 GRCh38 Chromosome 2, 216423668: 216423668
26 SMARCAL1 NM_014140.3(SMARCAL1): c.127G> A (p.Ala43Thr) single nucleotide variant Benign/Likely benign rs2066524 GRCh37 Chromosome 2, 217279554: 217279554
27 SMARCAL1 NM_014140.3(SMARCAL1): c.127G> A (p.Ala43Thr) single nucleotide variant Benign/Likely benign rs2066524 GRCh38 Chromosome 2, 216414831: 216414831
28 SMARCAL1 NM_014140.3(SMARCAL1): c.423T> C (p.Tyr141=) single nucleotide variant Conflicting interpretations of pathogenicity rs35907255 GRCh38 Chromosome 2, 216415127: 216415127
29 SMARCAL1 NM_014140.3(SMARCAL1): c.423T> C (p.Tyr141=) single nucleotide variant Conflicting interpretations of pathogenicity rs35907255 GRCh37 Chromosome 2, 217279850: 217279850
30 SMARCAL1 NM_014140.3(SMARCAL1): c.603G> C (p.Gly201=) single nucleotide variant Benign/Likely benign rs35048226 GRCh38 Chromosome 2, 216415307: 216415307
31 SMARCAL1 NM_014140.3(SMARCAL1): c.603G> C (p.Gly201=) single nucleotide variant Benign/Likely benign rs35048226 GRCh37 Chromosome 2, 217280030: 217280030
32 SMARCAL1 NM_014140.3(SMARCAL1): c.901C> G (p.Pro301Ala) single nucleotide variant Benign rs146084305 GRCh37 Chromosome 2, 217285060: 217285060
33 SMARCAL1 NM_014140.3(SMARCAL1): c.901C> G (p.Pro301Ala) single nucleotide variant Benign rs146084305 GRCh38 Chromosome 2, 216420337: 216420337
34 SMARCAL1 NM_014140.3(SMARCAL1): c.1947C> T (p.Asp649=) single nucleotide variant Benign/Likely benign rs2066526 GRCh37 Chromosome 2, 217315664: 217315664
35 SMARCAL1 NM_014140.3(SMARCAL1): c.1947C> T (p.Asp649=) single nucleotide variant Benign/Likely benign rs2066526 GRCh38 Chromosome 2, 216450941: 216450941
36 SMARCAL1 NM_014140.3(SMARCAL1): c.1995C> T (p.Ala665=) single nucleotide variant Benign/Likely benign rs151241914 GRCh37 Chromosome 2, 217315712: 217315712
37 SMARCAL1 NM_014140.3(SMARCAL1): c.1995C> T (p.Ala665=) single nucleotide variant Benign/Likely benign rs151241914 GRCh38 Chromosome 2, 216450989: 216450989
38 SMARCAL1 NM_014140.3(SMARCAL1): c.2070T> C (p.Thr690=) single nucleotide variant Benign/Likely benign rs2066527 GRCh37 Chromosome 2, 217315787: 217315787
39 SMARCAL1 NM_014140.3(SMARCAL1): c.2070T> C (p.Thr690=) single nucleotide variant Benign/Likely benign rs2066527 GRCh38 Chromosome 2, 216451064: 216451064
40 SMARCAL1 NM_014140.3(SMARCAL1): c.2226G> A (p.Thr742=) single nucleotide variant Conflicting interpretations of pathogenicity rs2271335 GRCh37 Chromosome 2, 217332751: 217332751
41 SMARCAL1 NM_014140.3(SMARCAL1): c.2226G> A (p.Thr742=) single nucleotide variant Conflicting interpretations of pathogenicity rs2271335 GRCh38 Chromosome 2, 216468028: 216468028
42 SMARCAL1 NM_014140.3(SMARCAL1): c.1427G> A (p.Arg476Gln) single nucleotide variant Uncertain significance rs142164846 GRCh37 Chromosome 2, 217297533: 217297533
43 SMARCAL1 NM_014140.3(SMARCAL1): c.1427G> A (p.Arg476Gln) single nucleotide variant Uncertain significance rs142164846 GRCh38 Chromosome 2, 216432810: 216432810
44 SMARCAL1 NM_014140.3(SMARCAL1): c.1001G> A (p.Arg334Gln) single nucleotide variant Uncertain significance rs138575228 GRCh37 Chromosome 2, 217285160: 217285160
45 SMARCAL1 NM_014140.3(SMARCAL1): c.1001G> A (p.Arg334Gln) single nucleotide variant Uncertain significance rs138575228 GRCh38 Chromosome 2, 216420437: 216420437
46 SMARCAL1 NM_014140.3(SMARCAL1): c.1271A> T (p.Asp424Val) single nucleotide variant Conflicting interpretations of pathogenicity rs2066520 GRCh37 Chromosome 2, 217293442: 217293442
47 SMARCAL1 NM_014140.3(SMARCAL1): c.1271A> T (p.Asp424Val) single nucleotide variant Conflicting interpretations of pathogenicity rs2066520 GRCh38 Chromosome 2, 216428719: 216428719
48 SMARCAL1 NM_014140.3(SMARCAL1): c.2528+5G> C single nucleotide variant Conflicting interpretations of pathogenicity rs145908212 GRCh37 Chromosome 2, 217341937: 217341937
49 SMARCAL1 NM_014140.3(SMARCAL1): c.2528+5G> C single nucleotide variant Conflicting interpretations of pathogenicity rs145908212 GRCh38 Chromosome 2, 216477214: 216477214
50 SMARCAL1 NM_014140.3(SMARCAL1): c.-218C> T single nucleotide variant Benign rs3755141 GRCh38 Chromosome 2, 216412526: 216412526

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 11.66 BAZ1A SMARCA1 SMARCA2 SMARCA4
2 11.48 ASTN1 BAZ1A
3
Show member pathways
11.25 SMARCA1 SMARCA2 SMARCA4
4
Show member pathways
11.16 SMARCA1 SMARCA2 SMARCA4 SMARCAL1
5
Show member pathways
11.1 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 nuclear chromatin GO:0000790 9.43 SMARCA1 SMARCA2 SMARCA4
2 SWI/SNF complex GO:0016514 9.16 SMARCA2 SMARCA4
3 nBAF complex GO:0071565 8.96 SMARCA2 SMARCA4
4 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 9.56 BAZ1A SMARCA2 SMARCA4 SMARCAL1
2 positive regulation of transcription, DNA-templated GO:0045893 9.5 SMARCA1 SMARCA2 SMARCA4
3 negative regulation of cell growth GO:0030308 9.37 SMARCA2 SMARCA4
4 DNA strand renaturation GO:0000733 9.16 SMARCA1 SMARCAL1
5 ATP-dependent chromatin remodeling GO:0043044 9.13 SMARCA1 SMARCA2 SMARCA4
6 chromatin remodeling GO:0006338 8.92 BAZ1A SMARCA1 SMARCA2 SMARCA4

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

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.71 SMARCA1 SMARCA2 SMARCA4 SMARCAL1
2 ATP binding GO:0005524 9.67 SMARCA1 SMARCA2 SMARCA4 SMARCAL1
3 ATPase activity GO:0016887 9.5 SMARCA1 SMARCA2 SMARCA4
4 histone binding GO:0042393 9.43 SMARCA2 SMARCA4
5 hydrolase activity, acting on acid anhydrides GO:0016817 9.26 SMARCA2 SMARCA4
6 helicase activity GO:0004386 9.26 SMARCA1 SMARCA2 SMARCA4 SMARCAL1
7 annealing helicase activity GO:0036310 9.16 SMARCA1 SMARCAL1
8 DNA-dependent ATPase activity GO:0008094 8.92 SMARCA1 SMARCA2 SMARCA4 SMARCAL1

Sources for Schimke Immunoosseous Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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