SIOD
MCID: SCH016
MIFTS: 53

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 56 12 24 52 25 73 36 29 13 54 6 43 39
Schimke Immuno-Osseous Dysplasia 12 52 25 58 73 15
Immunoosseous Dysplasia, Schimke Type 56 52 25 73
Siod 56 52 25 73
Schimke Syndrome 12 52 58
Spondyloepiphyseal Dysplasia - Nephrotic Syndrome 12
Spondyloepiphyseal Dysplasia Nephrotic Syndrome 52
Spondyloepiphyseal Dysplasia-Nephrotic Syndrome 58
Immunoosseous Dysplasia Schimke Type 12

Characteristics:

Orphanet epidemiological data:

58
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:

56
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:

Orphanet: 58  
Rare renal diseases
Rare bone diseases
Developmental anomalies during embryogenesis
Rare immunological diseases
Rare odontological diseases


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 focal segmental glomerulosclerosis. 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 tRNA processing. 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 : 52 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 : 36 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 : 73 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 80)
# Related Disease Score Top Affiliating Genes
1 spondyloepiphyseal dysplasia with congenital joint dislocations 31.5 SMARCAL1 SMARCA4 SMARCA2
2 focal segmental glomerulosclerosis 30.0 SMARCAL1 NUP93 NUP107 NPHS2
3 nephrotic syndrome 29.7 SMARCAL1 NUP93 NUP205 NUP107 NPHS2
4 end stage renal failure 29.6 NUP93 NUP205 NUP107 NPHS2
5 autosomal recessive disease 10.6
6 t cell deficiency 10.6
7 arteriosclerosis 10.5
8 lymphopenia 10.5
9 immuno-osseous dysplasia 10.5
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 malignant hypertension 10.3
21 myopia 10.3
22 diarrhea 10.3
23 squamous cell papilloma 10.3
24 hypothyroidism 10.3
25 encephalomalacia 10.3
26 papilloma 10.3
27 glomerulonephritis 10.3
28 lipid metabolism disorder 10.3
29 mesangial proliferative glomerulonephritis 10.3
30 herpes zoster 10.3
31 pulmonary embolism 10.3
32 encephalitis 10.3
33 autoimmune enteropathy 10.3
34 skeletal dysplasias 10.3
35 seizure disorder 10.3
36 severe immune-mediated enteropathy 10.3
37 atherosclerosis susceptibility 10.3
38 autoimmune disease 10.3
39 intussusception 10.3
40 lentigines 10.3
41 odontochondrodysplasia 10.3
42 cartilage-hair hypoplasia 10.3
43 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.3
44 membranous nephropathy 10.3
45 lymphoproliferative syndrome 10.3
46 nephrocalcinosis 10.3
47 thrombocytopenia due to platelet alloimmunization 10.3
48 ventricular septal defect 10.3
49 heart septal defect 10.3
50 generalized atherosclerosis 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:

58 31 (show all 48)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short neck 58 31 hallmark (90%) Very frequent (99-80%) HP:0000470
2 abnormality of epiphysis morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0005930
3 hyperlordosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0003307
4 depressed nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0005280
5 intrauterine growth retardation 58 31 very rare (1%) Very frequent (99-80%) HP:0001511
6 proteinuria 58 31 hallmark (90%) Very frequent (99-80%) HP:0000093
7 anemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001903
8 ovoid vertebral bodies 58 31 hallmark (90%) Very frequent (99-80%) HP:0003300
9 disproportionate short-trunk short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0003521
10 platyspondyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000926
11 microdontia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000691
12 melanocytic nevus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000995
13 thrombocytopenia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001873
14 nephrotic syndrome 58 31 hallmark (90%) Very frequent (99-80%) HP:0000100
15 glomerulopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0100820
16 hip dislocation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002827
17 lymphopenia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001888
18 cellular immunodeficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0005374
19 bulbous nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0000414
20 abnormal t cell morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0002843
21 multiple cafe-au-lait spots 58 31 frequent (33%) Frequent (79-30%) HP:0007565
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 hypermelanotic macule 31 HP:0001034
28 opacification of the corneal stroma 31 HP:0007759
29 abnormal form of the vertebral bodies 58 Very frequent (99-80%)
30 myopia 31 HP:0000545
31 waddling gait 31 HP:0002515
32 motor delay 31 HP:0001270
33 neutropenia 31 HP:0001875
34 recurrent infections 31 HP:0002719
35 fine hair 31 HP:0002213
36 thoracic kyphosis 31 HP:0002942
37 abnormal immunoglobulin level 31 HP:0010701
38 high pitched voice 31 HP:0001620
39 astigmatism 31 HP:0000483
40 lumbar hyperlordosis 31 HP:0002938
41 arteriosclerosis 31 HP:0002634
42 focal segmental glomerulosclerosis 31 HP:0000097
43 protuberant abdomen 31 HP:0001538
44 shallow acetabular fossae 31 HP:0003182
45 increased thyroid-stimulating hormone level 31 HP:0002925
46 spondyloepiphyseal dysplasia 31 HP:0002655
47 hypoplasia of the capital femoral epiphysis 31 HP:0003090
48 lateral displacement of the femoral head 31 HP:0006453

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Neck:
short neck

Skeletal:
osteopenia
spondyloepiphyseal dysplasia

Skin Nails Hair Hair:
coarse hair
fine hair

Hematology:
anemia
thrombocytopenia
neutropenia
lymphopenia

Head And Neck Teeth:
microdontia

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

Cardiovascular Vascular:
arteriosclerosis
hypertension, renal

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

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

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

GenomeRNAi Phenotypes related to Schimke Immunoosseous Dysplasia according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Nucleoplasmic pre-40S maturation defects GR00209-A-1 8.8 NUP107 NUP205 NUP93

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:

40
T Cells, Bone, Kidney, Thyroid, Brain, Skin, B Cells

Publications for Schimke Immunoosseous Dysplasia

Articles related to Schimke Immunoosseous Dysplasia:

(show top 50) (show all 121)
# Title Authors PMID Year
1
Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia. 61 24 56 6
11799392 2002
2
The annealing helicase HARP protects stalled replication forks. 54 61 24 6
19793864 2009
3
Schimke immuno-osseous dysplasia: SMARCAL1 loss-of-function and phenotypic correlation. 61 56 6
18805831 2009
4
Fatal lymphoproliferative disorder in a child with Schimke immuno-osseous dysplasia. 61 56 6
15523612 2004
5
HARP is an ATP-driven annealing helicase. 61 24 6
18974355 2008
6
Clinical and genetic distinction of Schimke immuno-osseous dysplasia and cartilage-hair hypoplasia. 61 24 56
18627050 2008
7
Schimke immunoosseous dysplasia: suggestions of genetic diversity. 61 24 56
17089404 2007
8
Schimke immuno-osseous dysplasia: a clinicopathological correlation. 61 24 56
16840568 2007
9
Schimke immuno-osseous dysplasia: a cell autonomous disorder? 61 24 56
16419127 2006
10
Generalized atherosclerosis sparing the transplanted kidney in Schimke disease. 61 24 56
15054643 2004
11
Longevity in Schimke immuno-osseous dysplasia. 61 24 56
12471207 2002
12
Successful bone marrow transplantation in a patient with Schimke immuno-osseous dysplasia. 61 24 56
11113849 2000
13
Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literature. 61 24 56
10653321 2000
14
Autoimmune enteropathy in Schimke immunoosseous dysplasia. 61 24 56
9632175 1998
15
Schimke immuno-osseous dysplasia: a newly recognized multisystem disease. 61 24 56
2066860 1991
16
Association of spondylo-epiphyseal dysplasia with nephrotic syndrome. 24 56
2397176 1990
17
The annealing helicase SMARCAL1 maintains genome integrity at stalled replication forks. 54 61 24
19793861 2009
18
The SIOD disorder protein SMARCAL1 is an RPA-interacting protein involved in replication fork restart. 54 61 24
19793862 2009
19
Cerebellar atrophy in Schimke-immuno-osseous dysplasia. 61 56
17676601 2007
20
Schimke Immunoosseous Dysplasia 61 6
20301550 2002
21
Dental findings in the Schimke immuno-osseous dysplasia. 61 56
10869120 2000
22
Mental retardation and seizure disorder in Schimke immunoosseous dysplasia. 61 56
10710226 2000
23
Schimke immuno-osseous dysplasia: case report and review of 25 patients. 61 56
10528861 1999
24
Schimke immunoosseous dysplasia complicated by moyamoya phenomenon. 61 56
9674900 1998
25
Juvenile variant of Schimke immunoosseous dysplasia. 61 56
8209883 1994
26
Spondyloepiphyseal dysplasia with nephrotic syndrome (Schimke immunoosseous dysplasia). 61 56
8209884 1994
27
Schimke immuno-osseous dysplasia: case report and review. 61 56
8267014 1993
28
Transcriptional and posttranscriptional mechanisms contribute to the dysregulation of elastogenesis in Schimke immuno-osseous dysplasia. 61 24
26309238 2015
29
Lack of IL7Rα expression in T cells is a hallmark of T-cell immunodeficiency in Schimke immuno-osseous dysplasia (SIOD). 61 24
26499378 2015
30
Bone marrow transplantation in Schimke immuno-osseous dysplasia. 61 24
23950031 2013
31
Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia? 61 24
22998683 2012
32
SMARCAL1 deficiency predisposes to non-Hodgkin lymphoma and hypersensitivity to genotoxic agents in vivo. 61 24
22888040 2012
33
Dental abnormalities in Schimke immuno-osseous dysplasia. 61 24
22699664 2012
34
Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression. 61 24
22378147 2012
35
Rituximab resistant evans syndrome and autoimmunity in Schimke immuno-osseous dysplasia. 61 24
21914180 2011
36
SMARCAL1 and replication stress: an explanation for SIOD? 61 24
21327070 2010
37
Identification of SMARCAL1 as a component of the DNA damage response. 61 24
19841479 2009
38
Improved outcome with immunosuppressive monotherapy after renal transplantation in Schimke-immuno-osseous dysplasia. 61 24
18785907 2009
39
Schimke immuno-osseous dysplasia: expression of SMARCAL1 in blood and kidney provides novel insight into disease phenotype. 61 24
18356746 2008
40
Vaso-occlusion in Schimke-immuno-osseous dysplasia: is the NO pathway involved? 61 24
17075778 2006
41
Schimke versus non-Schimke chronic kidney disease: an anthropometric approach. 61 24
16816006 2006
42
R561C missense mutation in the SMARCAL1 gene associated with mild Schimke immuno-osseous dysplasia. 61 24
16237566 2005
43
Mitochondrial function in schimke-immunoosseous dysplasia. 61 24
16167201 2005
44
Association of migraine-like headaches with Schimke immuno-osseous dysplasia. 61 24
15884045 2005
45
Schimke-immuno-osseous dysplasia: new mutation with weak genotype-phenotype correlation in siblings. 61 24
15880370 2005
46
Successful renal transplantation following prior bone marrow transplantation in pediatric patients. 61 24
15367289 2004
47
[Skeletal changes in inborn errors of metabolism (author's transl)]. 56
7035875 1981
48
Expression of Notch pathway proteins correlates with albuminuria, glomerulosclerosis, and renal function. 24
20531454 2010
49
The annealing helicase HARP is recruited to DNA repair sites via an interaction with RPA. 24
19793863 2009
50
The Notch pathway in podocytes plays a role in the development of glomerular disease. 24
18311147 2008

Variations for Schimke Immunoosseous Dysplasia

ClinVar genetic disease variations for Schimke Immunoosseous Dysplasia:

6 (show top 50) (show all 92) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SMARCAL1 NM_014140.3(SMARCAL1):c.1132G>T (p.Glu378Ter)SNV Pathogenic 218374 rs864309531 2:217288391-217288391 2:216423668-216423668
2 SMARCAL1 NM_001127207.2(SMARCAL1):c.2542G>T (p.Glu848Ter)SNV Pathogenic 4171 rs119473033 2:217342939-217342939 2:216478216-216478216
3 SMARCAL1 NM_014140.3(SMARCAL1):c.49C>T (p.Arg17Ter)SNV Pathogenic 4172 rs119473034 2:217279476-217279476 2:216414753-216414753
4 SMARCAL1 NM_014140.3(SMARCAL1):c.100C>T (p.Gln34Ter)SNV Pathogenic 4173 rs119473035 2:217279527-217279527 2:216414804-216414804
5 SMARCAL1 NM_014140.3(SMARCAL1):c.1643T>A (p.Ile548Asn)SNV Pathogenic 4174 rs119473036 2:217300218-217300218 2:216435495-216435495
6 SMARCAL1 NM_014140.3(SMARCAL1):c.1933C>T (p.Arg645Cys)SNV Pathogenic 4175 rs119473037 2:217315650-217315650 2:216450927-216450927
7 SMARCAL1 NM_014140.3(SMARCAL1):c.1756C>T (p.Arg586Trp)SNV Pathogenic 4176 rs119473038 2:217311786-217311786 2:216447063-216447063
8 SMARCAL1 SMARCAL1, 4-BP DEL, 1146AAGTdeletion Pathogenic 4177
9 SMARCAL1 NM_014140.3(SMARCAL1):c.2291G>A (p.Arg764Gln)SNV Pathogenic 4178 rs267607071 2:217340038-217340038 2:216475315-216475315
10 SMARCAL1 NM_014140.3(SMARCAL1):c.2321C>A (p.Ser774Ter)SNV Pathogenic 463148 rs149425324 2:217340068-217340068 2:216475345-216475345
11 SMARCAL1 NM_014140.3(SMARCAL1):c.1190del (p.Leu397fs)deletion Pathogenic 577921 rs766291662 2:217293361-217293361 2:216428638-216428638
12 SMARCAL1 NM_014140.3(SMARCAL1):c.2427+1G>ASNV Pathogenic 599161 rs1559138455 2:217340175-217340175 2:216475452-216475452
13 SMARCAL1 NM_014140.4(SMARCAL1):c.1248dup (p.Thr417fs)duplication Pathogenic 649815 2:217293418-217293419 2:216428695-216428696
14 SMARCAL1 NM_001127207.2(SMARCAL1):c.268_269CA[1] (p.His90fs)short repeat Pathogenic 642307 2:217279695-217279696 2:216414972-216414973
15 SMARCAL1 NM_014140.3(SMARCAL1):c.863-2A>GSNV Pathogenic 562358 rs761546902 2:217285020-217285020 2:216420297-216420297
16 SMARCAL1 NC_000002.11:g.(?_217279418)_(217281040_?)deldeletion Pathogenic 652386 2:217279418-217281040 2:216414695-216416317
17 SMARCAL1 NM_014140.4(SMARCAL1):c.365_366TC[2] (p.Pro124fs)short repeat Likely pathogenic 804394 2:217279792-217279793 2:216415069-216415070
18 SMARCAL1 NM_014140.3(SMARCAL1):c.2570G>A (p.Gly857Glu)SNV Likely pathogenic 496639 rs1553535161 2:217342967-217342967 2:216478244-216478244
19 SMARCAL1 NM_014140.3(SMARCAL1):c.1384_1389dup (p.Leu462_Gly463dup)duplication Likely pathogenic 522487 rs1553526162 2:217297489-217297490 2:216432766-216432767
20 SMARCAL1 NM_014140.3(SMARCAL1):c.1851+5G>ASNV Conflicting interpretations of pathogenicity 463146 rs2066514 2:217311886-217311886 2:216447163-216447163
21 SMARCAL1 NM_014140.3(SMARCAL1):c.72A>G (p.Arg24=)SNV Conflicting interpretations of pathogenicity 334289 rs199805770 2:217279499-217279499 2:216414776-216414776
22 SMARCAL1 NM_014140.3(SMARCAL1):c.863-9C>GSNV Conflicting interpretations of pathogenicity 334293 rs188833040 2:217285013-217285013 2:216420290-216420290
23 SMARCAL1 NM_014140.3(SMARCAL1):c.1147+8G>ASNV Conflicting interpretations of pathogenicity 334294 rs759562755 2:217288414-217288414 2:216423691-216423691
24 SMARCAL1 NM_014140.3(SMARCAL1):c.1407C>T (p.Ile469=)SNV Conflicting interpretations of pathogenicity 334297 rs750621192 2:217297513-217297513 2:216432790-216432790
25 SMARCAL1 NM_014140.3(SMARCAL1):c.423T>C (p.Tyr141=)SNV Conflicting interpretations of pathogenicity 260344 rs35907255 2:217279850-217279850 2:216415127-216415127
26 SMARCAL1 NM_014140.3(SMARCAL1):c.2226G>A (p.Thr742=)SNV Conflicting interpretations of pathogenicity 260343 rs2271335 2:217332751-217332751 2:216468028-216468028
27 SMARCAL1 NM_014140.3(SMARCAL1):c.1271A>T (p.Asp424Val)SNV Conflicting interpretations of pathogenicity 283080 rs2066520 2:217293442-217293442 2:216428719-216428719
28 SMARCAL1 NM_014140.3(SMARCAL1):c.1196C>T (p.Thr399Met)SNV Conflicting interpretations of pathogenicity 334295 rs139872089 2:217293367-217293367 2:216428644-216428644
29 SMARCAL1 NM_014140.3(SMARCAL1):c.1413C>T (p.Ile471=)SNV Conflicting interpretations of pathogenicity 334298 rs149599324 2:217297519-217297519 2:216432796-216432796
30 SMARCAL1 NM_014140.3(SMARCAL1):c.1414G>A (p.Ala472Thr)SNV Conflicting interpretations of pathogenicity 334299 rs571392819 2:217297520-217297520 2:216432797-216432797
31 SMARCAL1 NM_014140.3(SMARCAL1):c.*13G>TSNV Uncertain significance 334302 rs760333596 2:217347713-217347713 2:216482990-216482990
32 SMARCAL1 NM_014140.3(SMARCAL1):c.1485+8G>ASNV Uncertain significance 334300 rs886055617 2:217297599-217297599 2:216432876-216432876
33 SMARCAL1 NM_014140.3(SMARCAL1):c.-170C>TSNV Uncertain significance 334282 rs886055614 2:217277297-217277297 2:216412574-216412574
34 SMARCAL1 NM_014140.3(SMARCAL1):c.-114G>ASNV Uncertain significance 334286 rs561221026 2:217277353-217277353 2:216412630-216412630
35 SMARCAL1 NM_014140.3(SMARCAL1):c.-82T>CSNV Uncertain significance 334287 rs886055615 2:217278592-217278592 2:216413869-216413869
36 SMARCAL1 NM_014140.3(SMARCAL1):c.1762G>A (p.Ala588Thr)SNV Uncertain significance 290769 rs769553029 2:217311792-217311792 2:216447069-216447069
37 SMARCAL1 NM_014140.3(SMARCAL1):c.1427G>A (p.Arg476Gln)SNV Uncertain significance 281764 rs142164846 2:217297533-217297533 2:216432810-216432810
38 SMARCAL1 NM_014140.3(SMARCAL1):c.1001G>A (p.Arg334Gln)SNV Uncertain significance 281779 rs138575228 2:217285160-217285160 2:216420437-216420437
39 SMARCAL1 NM_014140.3(SMARCAL1):c.76G>A (p.Glu26Lys)SNV Uncertain significance 334290 rs886055616 2:217279503-217279503 2:216414780-216414780
40 SMARCAL1 NM_014140.3(SMARCAL1):c.1251G>A (p.Thr417=)SNV Uncertain significance 334296 rs372331472 2:217293422-217293422 2:216428699-216428699
41 SMARCAL1 NM_014140.3(SMARCAL1):c.2528+15G>ASNV Uncertain significance 334301 rs200879397 2:217341947-217341947 2:216477224-216477224
42 SMARCAL1 NM_014140.3(SMARCAL1):c.812-15T>CSNV Uncertain significance 334292 rs375588610 2:217280965-217280965 2:216416242-216416242
43 SMARCAL1 NM_014140.3(SMARCAL1):c.-164G>ASNV Uncertain significance 334283 rs767342189 2:217277303-217277303 2:216412580-216412580
44 SMARCAL1 NM_014140.3(SMARCAL1):c.-48C>ASNV Uncertain significance 334288 rs576450027 2:217279380-217279380 2:216414657-216414657
45 SMARCAL1 NM_014140.3(SMARCAL1):c.1786G>A (p.Ala596Thr)SNV Uncertain significance 193894 rs143100109 2:217311816-217311816 2:216447093-216447093
46 SMARCAL1 NM_014140.3(SMARCAL1):c.*30T>GSNV Uncertain significance 334303 rs186052380 2:217347730-217347730 2:216483007-216483007
47 SMARCAL1 NM_014140.3(SMARCAL1):c.1727T>C (p.Ile576Thr)SNV Uncertain significance 426426 rs138819354 2:217311757-217311757 2:216447034-216447034
48 SMARCAL1 NM_014140.3(SMARCAL1):c.600G>A (p.Ser200=)SNV Uncertain significance 334291 rs530505647 2:217280027-217280027 2:216415304-216415304
49 SMARCAL1 NM_014140.3(SMARCAL1):c.-141G>ASNV Uncertain significance 334284 rs542884297 2:217277326-217277326 2:216412603-216412603
50 SMARCAL1 NM_014140.3(SMARCAL1):c.2225C>T (p.Thr742Met)SNV Uncertain significance 463147 rs2271336 2:217332750-217332750 2:216468027-216468027

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

73 (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

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 nucleus GO:0005634 9.8 ZRANB3 TPRKB TIPIN SMARCAL1 SMARCA4 SMARCA2
2 nuclear envelope GO:0005635 9.63 NUP93 NUP205 NUP107
3 SWI/SNF complex GO:0016514 9.43 SMARCA4 SMARCA2
4 nuclear pore GO:0005643 9.43 NUP93 NUP205 NUP107
5 nBAF complex GO:0071565 9.4 SMARCA4 SMARCA2
6 npBAF complex GO:0071564 9.37 SMARCA4 SMARCA2
7 host cell GO:0043657 9.33 NUP93 NUP205 NUP107
8 nuclear replication fork GO:0043596 9.32 ZRANB3 SMARCAL1
9 nuclear periphery GO:0034399 8.8 NUP93 NUP205 NUP107

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.89 ZRANB3 TIPIN SMARCAL1 MUS81
2 viral transcription GO:0019083 9.73 NUP93 NUP205 NUP107
3 regulation of gene silencing by miRNA GO:0060964 9.71 NUP93 NUP205 NUP107
4 regulation of cellular response to heat GO:1900034 9.7 NUP93 NUP205 NUP107
5 protein sumoylation GO:0016925 9.69 NUP93 NUP205 NUP107
6 intracellular transport of virus GO:0075733 9.67 NUP93 NUP205 NUP107
7 mRNA transport GO:0051028 9.67 NXF5 NUP93 NUP205 NUP107
8 regulation of glycolytic process GO:0006110 9.65 NUP93 NUP205 NUP107
9 ATP-dependent chromatin remodeling GO:0043044 9.63 SMARCA4 SMARCA2 SMARCA1
10 mRNA export from nucleus GO:0006406 9.62 NXF5 NUP93 NUP205 NUP107
11 tRNA export from nucleus GO:0006409 9.61 NUP93 NUP205 NUP107
12 nucleocytoplasmic transport GO:0006913 9.58 NUP93 NUP205
13 replication fork processing GO:0031297 9.58 ZRANB3 SMARCAL1
14 poly(A)+ mRNA export from nucleus GO:0016973 9.57 NXF5 NUP93
15 chromatin remodeling GO:0006338 9.56 SMARCA4 SMARCA2 SMARCA1 BAZ1A
16 intra-S DNA damage checkpoint GO:0031573 9.55 TIPIN MUS81
17 DNA rewinding GO:0036292 9.4 ZRANB3 SMARCAL1
18 nuclear pore complex assembly GO:0051292 9.33 NUP93 NUP205 NUP107
19 replication fork protection GO:0048478 9.13 ZRANB3 TIPIN SMARCAL1
20 DNA strand renaturation GO:0000733 8.8 ZRANB3 SMARCAL1 SMARCA1

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.24 ZRANB3 TPRKB TIPIN SMARCAL1 SMARCA4 SMARCA2
2 hydrolase activity GO:0016787 9.98 ZRANB3 SMARCAL1 SMARCA4 SMARCA2 SMARCA1 MUS81
3 ATP binding GO:0005524 9.93 ZRANB3 SMARCAL1 SMARCA4 SMARCA2 SMARCA1 HLTF
4 structural constituent of nuclear pore GO:0017056 9.43 NUP93 NUP205 NUP107
5 helicase activity GO:0004386 9.43 ZRANB3 SMARCAL1 SMARCA4 SMARCA2 SMARCA1 HLTF
6 hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides GO:0016818 9.4 SMARCA1 HLTF
7 annealing helicase activity GO:0036310 9.33 ZRANB3 SMARCAL1 SMARCA1
8 hydrolase activity, acting on acid anhydrides GO:0016817 9.32 SMARCA4 SMARCA2
9 DNA-dependent ATPase activity GO:0008094 9.1 ZRANB3 SMARCAL1 SMARCA4 SMARCA2 SMARCA1 HLTF

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....