MCID: SCH016
MIFTS: 37

Schimke Immunoosseous Dysplasia malady

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

Aliases & Classifications for Schimke Immunoosseous Dysplasia

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Aliases & Descriptions for Schimke Immunoosseous Dysplasia:

Name: Schimke Immunoosseous Dysplasia 49 10 11 21 45 22 23 47 36
Schimke Immuno-Osseous Dysplasia 10 23 51 67
Immunoosseous Dysplasia, Schimke Type 45 23 24
Schimke Syndrome 10 45 51
Siod 45 23 67
Spondyloepiphyseal Dysplasia-Nephrotic Syndrome Syndrome 51
 
Spondylo-Epiphyseal Dysplasia, Autosomal Recessive 22
Spondyloepiphyseal Dysplasia - Nephrotic Syndrome 10
Spondyloepiphyseal Dysplasia, Autosomal Recessive 22
Spondyloepiphyseal Dysplasia Nephrotic Syndrome 45
Immunoosseous Dysplasia Schimke Type 10

Characteristics:

Orphanet epidemiological data:

51
schimke immuno-osseous dysplasia:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: adolescent,early childhood,late childhood

HPO:

61
schimke immunoosseous dysplasia:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 242900
Disease Ontology10 DOID:0060490
MeSH36 C536629
Orphanet51 1830
MESH via Orphanet37 C536629
UMLS via Orphanet66 C0877024
MedGen34 C0877024
UMLS65 C0877024

Summaries for Schimke Immunoosseous Dysplasia

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NIH Rare Diseases:45 Schimke immunoosseous dysplasia (siod) is a condition characterized by short stature, kidney disease, and a weakened immune system.   growth failure is often the first sign of this condition.  other features are usually detected in the evaluation for growth failure or in the following years.  the severity of siod ranges from an infantile or severe early-onset form to a juvenile or milder late-onset form.  complications of the severe form of siod can include strokes, severe opportunistic infections, bone marrow failure, and kidney failure that can be life-threatening early in life. people with milder disease have survived to adulthood if their kidney disease is managed. this condition is inherited in an autosomal recessive pattern.  mutations in the smarcal1 gene increase the risk to develop schimke immunoosseous dysplasia.  however, in order for people with smarcal1 gene mutations to develop symptoms of schimke immunoosseous dysplasia, other currently unknown genetic or environmental factors must also be present.  last updated: 10/20/2010

MalaCards based summary: Schimke Immunoosseous Dysplasia, also known as schimke immuno-osseous dysplasia, is related to spondyloepiphyseal dysplasia with congenital joint dislocations and breast cancer, and has symptoms including glomerulopathy, cellular immunodeficiency and depressed nasal bridge. An important gene associated with Schimke Immunoosseous Dysplasia is SMARCAL1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A-Like 1). Affiliated tissues include bone, t cells and kidney.

Disease Ontology:10 A spondyloepiphyseal dysplasia characterized by short stature with hyperpigmented macules and an unusual facies, proteinuria with progressive renal failure, lymphopenia with recurrent infections, and cerebral ischaemia. It is caused by mutations in the SMARCAL1 gene.

Genetics Home Reference:23 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:67 Schimke immuno-osseous dysplasia: Causes spondyloepiphyseal dysplasia, renal dysfunction and T-cell immunodeficiency. Approximately half of all patients also exhibit hyperthyroidism, while around half also exhibit episodal cerebral ischemia.

Description from OMIM:49 242900

GeneReviews summary for NBK1376

Related Diseases for Schimke Immunoosseous Dysplasia

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

(show all 15)
idRelated DiseaseScoreTop Affiliating Genes
1spondyloepiphyseal dysplasia with congenital joint dislocations11.5
2breast cancer10.5
3aspergillosis10.5
4kawasaki disease10.5
5hepatitis10.5
6horner's syndrome10.5
7paracoccidioidomycosis10.5
8allergic bronchopulmonary aspergillosis10.5
9yellow fever10.5
10hemangioendothelioma10.5
11horseshoe kidney10.5
12epithelioid hemangioendothelioma10.5
13obesity10.3
14glucose intolerance10.3
15panuveitis10.3

Graphical network of diseases related to Schimke Immunoosseous Dysplasia:



Diseases related to schimke immunoosseous dysplasia

Symptoms for Schimke Immunoosseous Dysplasia

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Symptoms by clinical synopsis from OMIM:

242900

Clinical features from OMIM:

242900

Symptoms:

 51 (show all 20)
  • long/large/bulbous nose
  • depressed nasal bridge
  • complete/partial microdontia
  • short neck
  • lordosis
  • abnormal vertebral size/shape
  • pigmented naevi/naevus pigmentosus/lentigo
  • renal glomerular defect/glomerulopathy
  • nephrotic syndrome
  • proteinuria
  • epiphyseal anomaly
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • t-cell deficiency/cellular immunity deficiency
  • anaemia
  • lymphopenia
  • thrombocytopenia/thrombopenia
  • autosomal recessive inheritance
  • short stature/dwarfism/nanism
  • intrauterine growth retardation
  • cafe-au-lait spot

HPO human phenotypes related to Schimke Immunoosseous Dysplasia:

(show all 53)
id Description Frequency HPO Source Accession
1 glomerulopathy hallmark (90%) HP:0100820
2 cellular immunodeficiency hallmark (90%) HP:0005374
3 depressed nasal bridge hallmark (90%) HP:0005280
4 anemia hallmark (90%) HP:0001903
5 lymphopenia hallmark (90%) HP:0001888
6 thrombocytopenia hallmark (90%) HP:0001873
7 intrauterine growth retardation hallmark (90%) HP:0001511
8 melanocytic nevus hallmark (90%) HP:0000995
9 microdontia hallmark (90%) HP:0000691
10 short neck hallmark (90%) HP:0000470
11 nephrotic syndrome hallmark (90%) HP:0000100
12 proteinuria hallmark (90%) HP:0000093
13 intrauterine growth retardation typical (50%) HP:0001511
14 cafe-au-lait spot typical (50%) HP:0000957
15 abnormal immunoglobulin level HP:0010701
16 opacification of the corneal stroma HP:0007759
17 lateral displacement of the femoral head HP:0006453
18 depressed nasal bridge HP:0005280
19 disproportionate short-trunk short stature HP:0003521
20 ovoid vertebral bodies HP:0003300
21 shallow acetabular fossae HP:0003182
22 hypoplasia of the capital femoral epiphysis HP:0003090
23 thoracic kyphosis HP:0002942
24 lumbar hyperlordosis HP:0002938
25 thyroid-stimulating hormone excess HP:0002925
26 abnormality of t cells HP:0002843
27 recurrent infections HP:0002719
28 spondyloepiphyseal dysplasia HP:0002655
29 arteriosclerosis HP:0002634
30 waddling gait HP:0002515
31 transient ischemic attack HP:0002326
32 fine hair HP:0002213
33 coarse hair HP:0002208
34 anemia HP:0001903
35 lymphopenia HP:0001888
36 neutropenia HP:0001875
37 thrombocytopenia HP:0001873
38 high pitched voice HP:0001620
39 protuberant abdomen HP:0001538
40 motor delay HP:0001270
41 hypermelanotic macule HP:0001034
42 osteopenia HP:0000938
43 platyspondyly HP:0000926
44 hypertension HP:0000822
45 microdontia HP:0000691
46 myopia HP:0000545
47 astigmatism HP:0000483
48 short neck HP:0000470
49 bulbous nose HP:0000414
50 nephrotic syndrome HP:0000100
51 focal segmental glomerulosclerosis HP:0000097
52 proteinuria HP:0000093
53 renal insufficiency HP:0000083

Drugs & Therapeutics for Schimke Immunoosseous Dysplasia

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Schimke Immunoosseous Dysplasia


Cochrane evidence based reviews: schimke immunoosseous dysplasia

Genetic Tests for Schimke Immunoosseous Dysplasia

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Genetic tests related to Schimke Immunoosseous Dysplasia:

id Genetic test Affiliating Genes
1 Schimke Immunoosseous Dysplasia22 SMARCAL1

Anatomical Context for Schimke Immunoosseous Dysplasia

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MalaCards organs/tissues related to Schimke Immunoosseous Dysplasia:

33
Bone, T cells, Kidney, Bone marrow, Thyroid

Animal Models for Schimke Immunoosseous Dysplasia or affiliated genes

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Publications for Schimke Immunoosseous Dysplasia

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Articles related to Schimke Immunoosseous Dysplasia:

(show all 14)
idTitleAuthorsYear
1
Miscarriage and recurrent miscarriage in patients with congenital factor V deficiency: a report of six cases in Iran. (26980222)
2016
2
Anaphylactic reactions to measles-mumps-rubella vaccine in three children with allergies to hen's egg and cow's milk. (21244488)
2011
3
Mesothelin confers pancreatic cancer cell resistance to TNF-I+-induced apoptosis through Akt/PI3K/NF-I_B activation and IL-6/Mcl-1 overexpression. (21880146)
2011
4
Amelioration of cerebral infarction and improvement of neurological deficit by a Korean herbal medicine, modified Bo-Yang-Hwan-O-Tang. (21492172)
2011
5
Plasmablastic lymphoma of head and neck: report of two new cases and correlation with c-myc and IgVH gene mutation status. (20614267)
2007
6
Therapeutic efficacy and bone marrow protection of the mdr1 gene and over-dose chemotherapy with doxorubicin for rabbits with VX2 hepatocarcinoma. (17085340)
2006
7
Transport of methotrexate, methotrexate polyglutamates, and 17beta-estradiol 17-(beta-D-glucuronide) by ABCG2: effects of acquired mutations at R482 on methotrexate transport. (12874005)
2003
8
Identification of one novel and three other point mutations in the protein C gene of five unrelated brazilian patients with hereditary protein C deficiency. (10942953)
2000
9
Body dysmorphic disorder. Diagnostic issues and related disorders. (1557480)
1992
10
Humoral immune responses in osteomyelitis. (1428348)
1992
11
Inpatient treatment of employed alcoholics: a randomized clinical trial on Hazelden-type and traditional treatment. (2221287)
1990
12
Primary spontaneous pneumothorax: a community hospital study. (3698682)
1986
13
Pulmonary precapillary hypertension in mitral valve disease. (6851571)
1983
14

Variations for Schimke Immunoosseous Dysplasia

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

67 (show all 11)
id Symbol AA change Variation ID SNP ID
1SMARCAL1p.Ala468ProVAR_021370
2SMARCAL1p.Ile548AsnVAR_021371
3SMARCAL1p.Ser579LeuVAR_021372
4SMARCAL1p.Arg586TrpVAR_021373
5SMARCAL1p.Arg644TrpVAR_021374
6SMARCAL1p.Arg645CysVAR_021375
7SMARCAL1p.Lys647GlnVAR_021376
8SMARCAL1p.Lys647ThrVAR_021377
9SMARCAL1p.Thr705IleVAR_021379
10SMARCAL1p.Arg764GlnVAR_021381
11SMARCAL1p.Arg820HisVAR_021382

Clinvar genetic disease variations for Schimke Immunoosseous Dysplasia:

5
id Gene Variation Type Significance SNP ID Assembly Location
1SMARCAL1NM_014140.3(SMARCAL1): c.1132G> T (p.Glu378Ter)single nucleotide variantPathogenicrs864309531GRCh37Chr 2, 217288391: 217288391
2SMARCAL1NM_014140.3(SMARCAL1): c.2542G> T (p.Glu848Ter)single nucleotide variantPathogenicrs119473033GRCh37Chr 2, 217342939: 217342939
3SMARCAL1NM_014140.3(SMARCAL1): c.49C> T (p.Arg17Ter)single nucleotide variantPathogenicrs119473034GRCh37Chr 2, 217279476: 217279476
4SMARCAL1NM_014140.3(SMARCAL1): c.100C> T (p.Gln34Ter)single nucleotide variantPathogenicrs119473035GRCh37Chr 2, 217279527: 217279527
5SMARCAL1NM_014140.3(SMARCAL1): c.1643T> A (p.Ile548Asn)single nucleotide variantPathogenicrs119473036GRCh37Chr 2, 217300218: 217300218
6SMARCAL1NM_014140.3(SMARCAL1): c.1933C> T (p.Arg645Cys)single nucleotide variantPathogenicrs119473037GRCh37Chr 2, 217315650: 217315650
7SMARCAL1NM_014140.3(SMARCAL1): c.1756C> T (p.Arg586Trp)single nucleotide variantPathogenicrs119473038GRCh37Chr 2, 217311786: 217311786
8SMARCAL1SMARCAL1, 4-BP DEL, 1146AAGTdeletionPathogenic
9SMARCAL1NM_014140.3(SMARCAL1): c.2291G> A (p.Arg764Gln)single nucleotide variantPathogenicrs267607071GRCh37Chr 2, 217340038: 217340038

Expression for genes affiliated with Schimke Immunoosseous Dysplasia

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

Pathways for genes affiliated with Schimke Immunoosseous Dysplasia

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GO Terms for genes affiliated with Schimke Immunoosseous Dysplasia

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Sources for Schimke Immunoosseous Dysplasia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet