SIOD
MCID: SCH016
MIFTS: 52

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 57 12 24 53 25 74 37 29 13 55 6 44 40
Schimke Immuno-Osseous Dysplasia 12 53 25 59 74 15
Immunoosseous Dysplasia, Schimke Type 57 53 25 74
Siod 57 53 25 74
Schimke Syndrome 12 53 59
Spondyloepiphyseal Dysplasia - Nephrotic Syndrome 12
Spondyloepiphyseal Dysplasia Nephrotic Syndrome 53
Spondyloepiphyseal Dysplasia-Nephrotic Syndrome 59
Immunoosseous Dysplasia Schimke Type 12

Characteristics:

Orphanet epidemiological data:

59
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:

57
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:

32
schimke immunoosseous dysplasia:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060490
OMIM 57 242900
KEGG 37 H00580
NCIt 50 C135087
MESH via Orphanet 45 C536629
ICD10 via Orphanet 34 Q77.7
UMLS via Orphanet 73 C0877024
Orphanet 59 ORPHA1830
MedGen 42 C0877024
UMLS 72 C0877024

Summaries for Schimke Immunoosseous Dysplasia

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. Other features frequently seen in people with this condition include an exaggerated curvature of the lower back (lordosis); darkened patches of skin (hyperpigmentation), typically on the chest and back; and a broad nasal bridge with a rounded tip of the nose. Less common signs and symptoms of Schimke immuno-osseous dysplasia include an accumulation of fatty deposits and scar-like tissue in the lining of the arteries (atherosclerosis), reduced blood flow to the brain (cerebral ischemia), migraine-like headaches, an underactive thyroid gland (hypothyroidism), decreased numbers of white blood cells (lymphopenia), underdeveloped hip bones (hypoplastic pelvis), abnormally small head size (microcephaly), a lack of sperm (azoospermia) in males, and irregular menstruation in females. In severe cases, many signs of Schimke immuno-osseous dysplasia can be present at birth. People with mild cases of this disorder may not develop signs or symptoms until late childhood.

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 t cells, bone 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.

NIH Rare Diseases : 53 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.

KEGG : 37
Schimke immunoosseous dysplasia is an autosomal recessive disorder characterized by spondyloepiphyseal dysplasia resulting in a short-trunk disproportionate dwarfism, T cell immunodeficiency, and progressive nephropathy with focal segmental glomerulosclerosis.

UniProtKB/Swiss-Prot : 74 Schimke immuno-osseous dysplasia: An autosomal recessive pleiotropic disorder characterized by spondyloepiphyseal dysplasia, renal dysfunction and immunodeficiency. Arteriosclerosis may also occur in some case.

More information from OMIM: 242900
GeneReviews: NBK1376

Related Diseases for Schimke Immunoosseous Dysplasia

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

(show top 50) (show all 76)
# Related Disease Score Top Affiliating Genes
1 spondyloepiphyseal dysplasia with congenital joint dislocations 10.8
2 nephrotic syndrome 10.7
3 focal segmental glomerulosclerosis 10.7
4 autosomal recessive disease 10.6
5 t cell deficiency 10.6
6 immuno-osseous dysplasia 10.5
7 arteriosclerosis 10.5
8 lymphopenia 10.5
9 immune deficiency disease 10.4
10 aphasia 10.4
11 thrombocytopenia 10.4
12 vascular disease 10.4
13 cerebrovascular disease 10.4
14 hypercholesterolemia, familial, 1 10.3
15 migraine with or without aura 1 10.3
16 lymphoma, hodgkin, classic 10.3
17 osteogenic sarcoma 10.3
18 lymphoma, non-hodgkin, familial 10.3
19 klippel-feil syndrome 10.3
20 steatorrhea 10.3
21 malignant hypertension 10.3
22 myopia 10.3
23 diarrhea 10.3
24 squamous cell papilloma 10.3
25 hypothyroidism 10.3
26 encephalomalacia 10.3
27 papilloma 10.3
28 glomerulonephritis 10.3
29 lipid metabolism disorder 10.3
30 mesangial proliferative glomerulonephritis 10.3
31 end stage renal failure 10.3
32 herpes zoster 10.3
33 pulmonary embolism 10.3
34 encephalitis 10.3
35 autoimmune enteropathy 10.3
36 skeletal dysplasias 10.3
37 seizure disorder 10.3
38 severe immune-mediated enteropathy 10.3
39 atherosclerosis susceptibility 10.3
40 autoimmune disease 10.3
41 intussusception 10.3
42 lentigines 10.3
43 odontochondrodysplasia 10.3
44 cartilage-hair hypoplasia 10.3
45 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.3
46 membranous nephropathy 10.3
47 lymphoproliferative syndrome 10.3
48 nephrocalcinosis 10.3
49 thrombocytopenia due to platelet alloimmunization 10.3
50 ventricular septal defect 10.3

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:

59 32 (show all 48)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short neck 59 32 hallmark (90%) Very frequent (99-80%) HP:0000470
2 abnormality of epiphysis morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0005930
3 hyperlordosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0003307
4 depressed nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0005280
5 proteinuria 59 32 hallmark (90%) Very frequent (99-80%) HP:0000093
6 anemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001903
7 ovoid vertebral bodies 59 32 hallmark (90%) Very frequent (99-80%) HP:0003300
8 disproportionate short-trunk short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0003521
9 platyspondyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000926
10 microdontia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000691
11 intrauterine growth retardation 59 32 very rare (1%) Very frequent (99-80%) HP:0001511
12 melanocytic nevus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000995
13 thrombocytopenia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001873
14 nephrotic syndrome 59 32 hallmark (90%) Very frequent (99-80%) HP:0000100
15 glomerulopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0100820
16 hip dislocation 59 32 hallmark (90%) Very frequent (99-80%) HP:0002827
17 lymphopenia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001888
18 cellular immunodeficiency 59 32 hallmark (90%) Very frequent (99-80%) HP:0005374
19 bulbous nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0000414
20 abnormal t cell morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0002843
21 multiple cafe-au-lait spots 59 32 frequent (33%) Frequent (79-30%) HP:0007565
22 hypertension 32 HP:0000822
23 osteopenia 32 HP:0000938
24 coarse hair 32 HP:0002208
25 renal insufficiency 32 HP:0000083
26 transient ischemic attack 32 HP:0002326
27 hypermelanotic macule 32 HP:0001034
28 opacification of the corneal stroma 32 HP:0007759
29 abnormal form of the vertebral bodies 59 Very frequent (99-80%)
30 myopia 32 HP:0000545
31 waddling gait 32 HP:0002515
32 motor delay 32 HP:0001270
33 recurrent infections 32 HP:0002719
34 fine hair 32 HP:0002213
35 neutropenia 32 HP:0001875
36 thoracic kyphosis 32 HP:0002942
37 abnormal immunoglobulin level 32 HP:0010701
38 high pitched voice 32 HP:0001620
39 astigmatism 32 HP:0000483
40 lumbar hyperlordosis 32 HP:0002938
41 focal segmental glomerulosclerosis 32 HP:0000097
42 protuberant abdomen 32 HP:0001538
43 shallow acetabular fossae 32 HP:0003182
44 arteriosclerosis 32 HP:0002634
45 increased thyroid-stimulating hormone level 32 HP:0002925
46 spondyloepiphyseal dysplasia 32 HP:0002655
47 hypoplasia of the capital femoral epiphysis 32 HP:0003090
48 lateral displacement of the femoral head 32 HP:0006453

Symptoms via clinical synopsis from OMIM:

57
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

Skeletal Limbs:
small capital femoral epiphyses
laterally displaced femoral heads

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

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

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:

46
# 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 29 SMARCAL1

Anatomical Context for Schimke Immunoosseous Dysplasia

MalaCards organs/tissues related to Schimke Immunoosseous Dysplasia:

41
T Cells, Bone, Kidney, Thyroid, Brain, Skin, Bone Marrow

Publications for Schimke Immunoosseous Dysplasia

Articles related to Schimke Immunoosseous Dysplasia:

(show top 50) (show all 119)
# Title Authors PMID Year
1
Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia. 38 4 8 71
11799392 2002
2
The annealing helicase HARP protects stalled replication forks. 9 38 4 71
19793864 2009
3
Schimke immuno-osseous dysplasia: SMARCAL1 loss-of-function and phenotypic correlation. 38 8 71
18805831 2009
4
Fatal lymphoproliferative disorder in a child with Schimke immuno-osseous dysplasia. 38 8 71
15523612 2004
5
HARP is an ATP-driven annealing helicase. 38 4 71
18974355 2008
6
Clinical and genetic distinction of Schimke immuno-osseous dysplasia and cartilage-hair hypoplasia. 38 4 8
18627050 2008
7
Schimke immunoosseous dysplasia: suggestions of genetic diversity. 38 4 8
17089404 2007
8
Schimke immuno-osseous dysplasia: a clinicopathological correlation. 38 4 8
16840568 2007
9
Schimke immuno-osseous dysplasia: a cell autonomous disorder? 38 4 8
16419127 2006
10
Generalized atherosclerosis sparing the transplanted kidney in Schimke disease. 38 4 8
15054643 2004
11
Longevity in Schimke immuno-osseous dysplasia. 38 4 8
12471207 2002
12
Successful bone marrow transplantation in a patient with Schimke immuno-osseous dysplasia. 38 4 8
11113849 2000
13
Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literature. 38 4 8
10653321 2000
14
Autoimmune enteropathy in Schimke immunoosseous dysplasia. 38 4 8
9632175 1998
15
Schimke immuno-osseous dysplasia: a newly recognized multisystem disease. 38 4 8
2066860 1991
16
Association of spondylo-epiphyseal dysplasia with nephrotic syndrome. 4 8
2397176 1990
17
The annealing helicase SMARCAL1 maintains genome integrity at stalled replication forks. 9 38 4
19793861 2009
18
The SIOD disorder protein SMARCAL1 is an RPA-interacting protein involved in replication fork restart. 9 38 4
19793862 2009
19
Cerebellar atrophy in Schimke-immuno-osseous dysplasia. 38 8
17676601 2007
20
Schimke Immunoosseous Dysplasia 38 71
20301550 2002
21
Dental findings in the Schimke immuno-osseous dysplasia. 38 8
10869120 2000
22
Mental retardation and seizure disorder in Schimke immunoosseous dysplasia. 38 8
10710226 2000
23
Schimke immuno-osseous dysplasia: case report and review of 25 patients. 38 8
10528861 1999
24
Schimke immunoosseous dysplasia complicated by moyamoya phenomenon. 38 8
9674900 1998
25
Juvenile variant of Schimke immunoosseous dysplasia. 38 8
8209883 1994
26
Spondyloepiphyseal dysplasia with nephrotic syndrome (Schimke immunoosseous dysplasia). 38 8
8209884 1994
27
Schimke immuno-osseous dysplasia: case report and review. 38 8
8267014 1993
28
Transcriptional and posttranscriptional mechanisms contribute to the dysregulation of elastogenesis in Schimke immuno-osseous dysplasia. 38 4
26309238 2015
29
Lack of IL7Rα expression in T cells is a hallmark of T-cell immunodeficiency in Schimke immuno-osseous dysplasia (SIOD). 38 4
26499378 2015
30
Bone marrow transplantation in Schimke immuno-osseous dysplasia. 38 4
23950031 2013
31
Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia? 38 4
22998683 2012
32
SMARCAL1 deficiency predisposes to non-Hodgkin lymphoma and hypersensitivity to genotoxic agents in vivo. 38 4
22888040 2012
33
Dental abnormalities in Schimke immuno-osseous dysplasia. 38 4
22699664 2012
34
Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression. 38 4
22378147 2012
35
Rituximab resistant evans syndrome and autoimmunity in Schimke immuno-osseous dysplasia. 38 4
21914180 2011
36
SMARCAL1 and replication stress: an explanation for SIOD? 38 4
21327070 2010
37
Identification of SMARCAL1 as a component of the DNA damage response. 38 4
19841479 2009
38
Improved outcome with immunosuppressive monotherapy after renal transplantation in Schimke-immuno-osseous dysplasia. 38 4
18785907 2009
39
Schimke immuno-osseous dysplasia: expression of SMARCAL1 in blood and kidney provides novel insight into disease phenotype. 38 4
18356746 2008
40
Vaso-occlusion in Schimke-immuno-osseous dysplasia: is the NO pathway involved? 38 4
17075778 2006
41
Schimke versus non-Schimke chronic kidney disease: an anthropometric approach. 38 4
16816006 2006
42
R561C missense mutation in the SMARCAL1 gene associated with mild Schimke immuno-osseous dysplasia. 38 4
16237566 2005
43
Mitochondrial function in schimke-immunoosseous dysplasia. 38 4
16167201 2005
44
Association of migraine-like headaches with Schimke immuno-osseous dysplasia. 38 4
15884045 2005
45
Schimke-immuno-osseous dysplasia: new mutation with weak genotype-phenotype correlation in siblings. 38 4
15880370 2005
46
Successful renal transplantation following prior bone marrow transplantation in pediatric patients. 38 4
15367289 2004
47
[Skeletal changes in inborn errors of metabolism (author's transl)]. 8
7035875 1981
48
Expression of Notch pathway proteins correlates with albuminuria, glomerulosclerosis, and renal function. 4
20531454 2010
49
The annealing helicase HARP is recruited to DNA repair sites via an interaction with RPA. 4
19793863 2009
50
The Notch pathway in podocytes plays a role in the development of glomerular disease. 4
18311147 2008

Variations for Schimke Immunoosseous Dysplasia

ClinVar genetic disease variations for Schimke Immunoosseous Dysplasia:

6 (show top 50) (show all 98)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SMARCAL1 NM_014140.3(SMARCAL1): c.2321C> A (p.Ser774Ter) single nucleotide variant Pathogenic rs149425324 2:217340068-217340068 2:216475345-216475345
2 SMARCAL1 NM_014140.3(SMARCAL1): c.2542G> T (p.Glu848Ter) single nucleotide variant Pathogenic rs119473033 2:217342939-217342939 2:216478216-216478216
3 SMARCAL1 NM_014140.3(SMARCAL1): c.49C> T (p.Arg17Ter) single nucleotide variant Pathogenic rs119473034 2:217279476-217279476 2:216414753-216414753
4 SMARCAL1 NM_014140.3(SMARCAL1): c.100C> T (p.Gln34Ter) single nucleotide variant Pathogenic rs119473035 2:217279527-217279527 2:216414804-216414804
5 SMARCAL1 NM_014140.3(SMARCAL1): c.1643T> A (p.Ile548Asn) single nucleotide variant Pathogenic rs119473036 2:217300218-217300218 2:216435495-216435495
6 SMARCAL1 NM_014140.3(SMARCAL1): c.1933C> T (p.Arg645Cys) single nucleotide variant Pathogenic rs119473037 2:217315650-217315650 2:216450927-216450927
7 SMARCAL1 NM_014140.3(SMARCAL1): c.1756C> T (p.Arg586Trp) single nucleotide variant Pathogenic rs119473038 2:217311786-217311786 2:216447063-216447063
8 SMARCAL1 SMARCAL1, 4-BP DEL, 1146AAGT deletion Pathogenic
9 SMARCAL1 NM_014140.3(SMARCAL1): c.2291G> A (p.Arg764Gln) single nucleotide variant Pathogenic rs267607071 2:217340038-217340038 2:216475315-216475315
10 SMARCAL1 NM_014140.3(SMARCAL1): c.1132G> T (p.Glu378Ter) single nucleotide variant Pathogenic rs864309531 2:217288391-217288391 2:216423668-216423668
11 SMARCAL1 NM_014140.3(SMARCAL1): c.863-2A> G single nucleotide variant Pathogenic 2:217285020-217285020 2:216420297-216420297
12 SMARCAL1 NM_014140.3(SMARCAL1): c.1190del (p.Leu397fs) deletion Pathogenic 2:217293361-217293361 2:216428638-216428638
13 SMARCAL1 NM_014140.3(SMARCAL1): c.2427+1G> A single nucleotide variant Pathogenic 2:217340175-217340175 2:216475452-216475452
14 SMARCAL1 NM_014140.3(SMARCAL1): c.1248dup (p.Thr417fs) duplication Pathogenic 2:217293419-217293419 2:216428696-216428696
15 SMARCAL1 NM_014140.3(SMARCAL1): c.268_269CA[1] (p.His90fs) short repeat Pathogenic 2:217279695-217279696 2:216414972-216414973
16 SMARCAL1 NC_000002.11: g.(?_217279418)_(217281040_?)del deletion Pathogenic 2:217279418-217281040 2:216414695-216416317
17 SMARCAL1 NM_014140.3(SMARCAL1): c.2570G> A (p.Gly857Glu) single nucleotide variant Likely pathogenic rs1553535161 2:217342967-217342967 2:216478244-216478244
18 SMARCAL1 NM_014140.3(SMARCAL1): c.1384_1389dup (p.Leu462_Gly463dup) duplication Likely pathogenic rs1553526162 2:217297490-217297495 2:216432767-216432772
19 SMARCAL1 NM_014140.3(SMARCAL1): c.1851+5G> A single nucleotide variant Conflicting interpretations of pathogenicity rs2066514 2:217311886-217311886 2:216447163-216447163
20 SMARCAL1 NM_014140.3(SMARCAL1): c.1271A> T (p.Asp424Val) single nucleotide variant Conflicting interpretations of pathogenicity rs2066520 2:217293442-217293442 2:216428719-216428719
21 SMARCAL1 NM_014140.3(SMARCAL1): c.2528+5G> C single nucleotide variant Conflicting interpretations of pathogenicity rs145908212 2:217341937-217341937 2:216477214-216477214
22 SMARCAL1 NM_014140.3(SMARCAL1): c.423T> C (p.Tyr141=) single nucleotide variant Conflicting interpretations of pathogenicity rs35907255 2:217279850-217279850 2:216415127-216415127
23 SMARCAL1 NM_014140.3(SMARCAL1): c.72A> G (p.Arg24=) single nucleotide variant Conflicting interpretations of pathogenicity rs199805770 2:217279499-217279499 2:216414776-216414776
24 SMARCAL1 NM_014140.3(SMARCAL1): c.863-9C> G single nucleotide variant Conflicting interpretations of pathogenicity rs188833040 2:217285013-217285013 2:216420290-216420290
25 SMARCAL1 NM_014140.3(SMARCAL1): c.2226G> A (p.Thr742=) single nucleotide variant Conflicting interpretations of pathogenicity rs2271335 2:217332751-217332751 2:216468028-216468028
26 SMARCAL1 NM_014140.3(SMARCAL1): c.1147+8G> A single nucleotide variant Uncertain significance rs759562755 2:217288414-217288414 2:216423691-216423691
27 SMARCAL1 NM_014140.3(SMARCAL1): c.1407C> T (p.Ile469=) single nucleotide variant Uncertain significance rs750621192 2:217297513-217297513 2:216432790-216432790
28 SMARCAL1 NM_014140.3(SMARCAL1): c.*30T> G single nucleotide variant Uncertain significance rs186052380 2:217347730-217347730 2:216483007-216483007
29 SMARCAL1 NM_014140.3(SMARCAL1): c.836T> C (p.Phe279Ser) single nucleotide variant Uncertain significance 2:217281004-217281004 2:216416281-216416281
30 SMARCAL1 NM_014140.3(SMARCAL1): c.600G> A (p.Ser200=) single nucleotide variant Uncertain significance rs530505647 2:217280027-217280027 2:216415304-216415304
31 SMARCAL1 NM_014140.3(SMARCAL1): c.1413C> T (p.Ile471=) single nucleotide variant Uncertain significance rs149599324 2:217297519-217297519 2:216432796-216432796
32 SMARCAL1 NM_014140.3(SMARCAL1): c.1414G> A (p.Ala472Thr) single nucleotide variant Uncertain significance rs571392819 2:217297520-217297520 2:216432797-216432797
33 SMARCAL1 NM_014140.3(SMARCAL1): c.*13G> T single nucleotide variant Uncertain significance rs760333596 2:217347713-217347713 2:216482990-216482990
34 SMARCAL1 NM_014140.3(SMARCAL1): c.1427G> A (p.Arg476Gln) single nucleotide variant Uncertain significance rs142164846 2:217297533-217297533 2:216432810-216432810
35 SMARCAL1 NM_014140.3(SMARCAL1): c.1001G> A (p.Arg334Gln) single nucleotide variant Uncertain significance rs138575228 2:217285160-217285160 2:216420437-216420437
36 SMARCAL1 NM_014140.3(SMARCAL1): c.-141G> A single nucleotide variant Uncertain significance rs542884297 2:217277326-217277326 2:216412603-216412603
37 SMARCAL1 NM_014140.3(SMARCAL1): c.565A> G (p.Lys189Glu) single nucleotide variant Uncertain significance 2:217279992-217279992 2:216415269-216415269
38 SMARCAL1 NM_014140.3(SMARCAL1): c.1727T> C (p.Ile576Thr) single nucleotide variant Uncertain significance rs138819354 2:217311757-217311757 2:216447034-216447034
39 SMARCAL1 NM_014140.3(SMARCAL1): c.1064C> T (p.Ala355Val) single nucleotide variant Uncertain significance 2:217285223-217285223 2:216420500-216420500
40 SMARCAL1 NM_014140.3(SMARCAL1): c.2114C> T (p.Thr705Ile) single nucleotide variant Uncertain significance 2:217329363-217329363 2:216464640-216464640
41 SMARCAL1 NM_014140.3(SMARCAL1): c.2658_2659delinsTT (p.Gln887Ter) indel Uncertain significance 2:217347493-217347494 2:216482770-216482771
42 SMARCAL1 NM_014140.3(SMARCAL1): c.1317T> G (p.Phe439Leu) single nucleotide variant Uncertain significance 2:217293488-217293488 2:216428765-216428765
43 SMARCAL1 NM_014140.3(SMARCAL1): c.179A> C (p.Glu60Ala) single nucleotide variant Uncertain significance 2:217279606-217279606 2:216414883-216414883
44 SMARCAL1 NM_014140.3(SMARCAL1): c.1594C> T (p.Leu532Phe) single nucleotide variant Uncertain significance 2:217300169-217300169 2:216435446-216435446
45 SMARCAL1 NM_014140.3(SMARCAL1): c.2768G> A (p.Gly923Glu) single nucleotide variant Uncertain significance 2:217347603-217347603 2:216482880-216482880
46 SMARCAL1 NM_014140.3(SMARCAL1): c.1762G> A (p.Ala588Thr) single nucleotide variant Uncertain significance rs769553029 2:217311792-217311792 2:216447069-216447069
47 SMARCAL1 NM_014140.3(SMARCAL1): c.922A> G (p.Ser308Gly) single nucleotide variant Uncertain significance rs1312214950 2:217285081-217285081 2:216420358-216420358
48 SMARCAL1 NM_014140.3(SMARCAL1): c.2735C> T (p.Ser912Leu) single nucleotide variant Uncertain significance rs763670564 2:217347570-217347570 2:216482847-216482847
49 SMARCAL1 NM_014140.3(SMARCAL1): c.2009A> G (p.Asn670Ser) single nucleotide variant Uncertain significance rs752621052 2:217315726-217315726 2:216451003-216451003
50 SMARCAL1 NM_014140.3(SMARCAL1): c.76G> A (p.Glu26Lys) single nucleotide variant Uncertain significance rs886055616 2:217279503-217279503 2:216414780-216414780

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

74 (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

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 SMARCA4 SMARCA2 SMARCA1 BAZ1A
2 11.48 BAZ1A ASTN1
3
Show member pathways
11.25 SMARCA4 SMARCA2 SMARCA1
4
Show member pathways
11.16 SMARCAL1 SMARCA4 SMARCA2 SMARCA1
5
Show member pathways
11.1 SMARCA4 SMARCA2

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 SMARCA4 SMARCA2 SMARCA1
2 SWI/SNF complex GO:0016514 9.16 SMARCA4 SMARCA2
3 nBAF complex GO:0071565 8.96 SMARCA4 SMARCA2
4 npBAF complex GO:0071564 8.62 SMARCA4 SMARCA2

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 SMARCAL1 SMARCA4 SMARCA2 BAZ1A
2 positive regulation of transcription, DNA-templated GO:0045893 9.5 SMARCA4 SMARCA2 SMARCA1
3 negative regulation of cell growth GO:0030308 9.37 SMARCA4 SMARCA2
4 DNA strand renaturation GO:0000733 9.16 SMARCAL1 SMARCA1
5 ATP-dependent chromatin remodeling GO:0043044 9.13 SMARCA4 SMARCA2 SMARCA1
6 chromatin remodeling GO:0006338 8.92 SMARCA4 SMARCA2 SMARCA1 BAZ1A

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

Sources for Schimke Immunoosseous Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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