MCID: SPN016
MIFTS: 38

Spondylocostal Dysostosis malady

Categories: Genetic diseases, Rare diseases, Bone diseases, Metabolic diseases, Fetal diseases

Aliases & Classifications for Spondylocostal Dysostosis

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Aliases & Descriptions for Spondylocostal Dysostosis:

Name: Spondylocostal Dysostosis 10 45 22 23 12
Jarcho-Levin Syndrome 10 23 65
Spondylocostal Dysostosis, Autosomal Recessive 3 10 11
Costovertebral Dysplasia 45 22
 
Scdo 45 23
Spondylothoracic Dysostosis 10
Spondylothoracic Dysplasia 10
Spondylocostal Dysplasia 22

Classifications:



External Ids:

Disease Ontology10 DOID:0050568
UMLS65 C0265343

Summaries for Spondylocostal Dysostosis

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NIH Rare Diseases:45 Spondylocostal dysostosis is a group of conditions characterized by abnormal development of the bones in the spine and ribs. in the spine, the vertebrae are misshapen and fused. many people with this condition have an abnormal side-to-side curvature of the spine (scoliosis). the ribs may be fused together or missing. these bone malformations lead to short, rigid necks and short midsections. infants with spondylocostal dysostosis have small, narrow chests that cannot fully expand. this can lead to life-threatening breathing problems. males with this condition are at an increased risk for inguinal hernia, where the diaphragm is pushed down, causing the abdomen to bulge out. there are several types of spondylocostal dysostosis. these types have similar features and are distinguished by their genetic cause and how they are inherited, autosomal recessive or autosomal dominant . some of the autosomal recessive types of spondylocostal dysostosis are called "jarcho-levin syndrome", a term that is more often used as a synonym for a similar condition known as "spondylothoracic dysostosis". treatment is symptomatic and supportive and may include respiratory support and surgery to correct inguinal hernia and scoliosis. last updated: 4/22/2016

MalaCards based summary: Spondylocostal Dysostosis, also known as jarcho-levin syndrome, is related to spondylocostal dysostosis 5 and spondylocostal dysostosis 4, autosomal recessive. An important gene associated with Spondylocostal Dysostosis is MESP2 (Mesoderm Posterior BHLH Transcription Factor 2), and among its related pathways is Neural Crest Differentiation. Affiliated tissues include vertebrae or, bone and liver, and related mouse phenotypes are embryo and limbs/digits/tail.

Disease Ontology:10 A dysostosis that results in abnormal development located in vertebrae or located in ribs. The bones of the spine do not develop properly, which causes them to be misshapen and abnormally joined together.

Genetics Home Reference:23 Spondylocostal dysostosis is a group of conditions characterized by abnormal development of bones in the spine and ribs. The bones of the spine (vertebrae) are misshapen and abnormally joined together (fused). Many people with this condition have abnormal side-to-side curvature of the spine (scoliosis) due to malformation of the vertebrae. In addition to spine abnormalities, some of the rib bones may be fused together or missing. Affected individuals have short, rigid necks and short midsections because of the bone malformations. As a result, people with spondylocostal dysostosis have short bodies but normal length arms and legs, called short-trunk dwarfism.

Wikipedia:68 Spondylocostal dysostosis is a rare, heritable axial skeleton growth disorder. It is characterized by... more...

Related Diseases for Spondylocostal Dysostosis

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Diseases in the Spondylocostal Dysostosis family:

Spondylocostal Dysostosis 6 Spondylocostal Dysostosis 3, Autosomal Recessive
Spondylocostal Dysostosis 2, Autosomal Recessive Spondylocostal Dysostosis 5
Spondylocostal Dysostosis 4, Autosomal Recessive Spondylocostal Dysostosis 1, Autosomal Recessive
Spondylocostal Dysostosis, Autosomal Recessive Spondylocostal Dysostosis 1
Spondylocostal Dysostosis 2 Spondylocostal Dysostosis 3
Spondylocostal Dysostosis 4 Dll3-Related Spondylocostal Dysostosis, Autosomal Recessive
Hes7-Related Spondylocostal Dysostosis, Autosomal Recessive Lfng-Related Spondylocostal Dysostosis, Autosomal Recessive
Mesp2-Related Spondylocostal Dysostosis, Autosomal Recessive Ripply2-Related Spondylocostal Dysostosis, Autosomal Recessive
Spondylocostal Dysostosis 5, Autosomal Dominant Autosomal Dominant Spondylocostal Dysostosis

Diseases related to Spondylocostal Dysostosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 73)
idRelated DiseaseScoreTop Affiliating Genes
1spondylocostal dysostosis 512.7
2spondylocostal dysostosis 4, autosomal recessive12.7
3spondylocostal dysostosis 612.7
4spondylocostal dysostosis 2, autosomal recessive12.7
5spondylocostal dysostosis 1, autosomal recessive12.7
6spondylocostal dysostosis 3, autosomal recessive12.7
7spondylocostal dysostosis, autosomal recessive12.6
8spondylocostal dysostosis 212.5
9spondylocostal dysostosis 112.5
10spondylocostal dysostosis 312.5
11spondylocostal dysostosis 412.5
12hes7-related spondylocostal dysostosis, autosomal recessive12.5
13lfng-related spondylocostal dysostosis, autosomal recessive12.5
14mesp2-related spondylocostal dysostosis, autosomal recessive12.5
15dll3-related spondylocostal dysostosis, autosomal recessive12.5
16ripply2-related spondylocostal dysostosis, autosomal recessive12.5
17spondylocostal dysostosis-anal and genitourinary malformations syndrome12.5
18hydrocephalus, costovertebral dysplasia, and sprengel anomaly12.5
19spondylocostal dysostosis 5, autosomal dominant12.4
20autosomal dominant spondylocostal dysostosis12.4
21spondylocostal dysostosis-hypospadias-intellectual disability syndrome12.4
22breast cancer10.5
23arthritis10.5
24prostatitis10.5
25rheumatoid arthritis10.3
26colorectal cancer10.3
27lung cancer10.3
28prostate cancer10.3
29obesity10.3
30psoriatic arthritis10.3
31aspergillosis10.3
32pancreatic cancer10.3
33charcot-marie-tooth disease, type 1a10.3
34charcot-marie-tooth disease10.3
35end stage renal failure10.3
36angiosarcoma10.3
37lissencephaly10.3
38c1 inhibitor deficiency10.3
39omphalocele10.3
40tooth disease10.3
41primary hyperparathyroidism10.3
42rabies10.3
43cauda equina syndrome10.3
44conn's syndrome10.3
45hypertrophic pyloric stenosis10.3
46pyloric stenosis10.3
47kearns-sayre syndrome10.3
48hyperparathyroidism10.3
49glossopharyngeal neuralgia10.3
50lymphangiosarcoma10.3

Graphical network of the top 20 diseases related to Spondylocostal Dysostosis:



Diseases related to spondylocostal dysostosis

Symptoms for Spondylocostal Dysostosis

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Drugs & Therapeutics for Spondylocostal Dysostosis

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Spondylocostal Dysostosis

Genetic Tests for Spondylocostal Dysostosis

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Genetic tests related to Spondylocostal Dysostosis:

id Genetic test Affiliating Genes
1 Spondylocostal Dysostosis22 MESP2

Anatomical Context for Spondylocostal Dysostosis

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MalaCards organs/tissues related to Spondylocostal Dysostosis:

33
Bone, Liver, Skin, T cells, Pituitary, Endothelial, B cells

FMA organs/tissues related to Spondylocostal Dysostosis:

16
Vertebrae or

Animal Models for Spondylocostal Dysostosis or affiliated genes

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MGI Mouse Phenotypes related to Spondylocostal Dysostosis:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053807.6DLL3, HES7, LFNG, MESP2, RIPPLY2, TBX6
2MP:00053717.5DLL3, HES7, LFNG, MESP2, RIPPLY2, TBX6
3MP:00053907.3DLL3, HES7, LFNG, MESP2, RIPPLY2, TBX6
4MP:00107687.2DLL3, HES7, LFNG, MESP2, RIPPLY2, TBX6
5MP:00053787.0DLL3, HES7, LFNG, MESP2, RIPPLY2, TBX6

Publications for Spondylocostal Dysostosis

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Articles related to Spondylocostal Dysostosis:

(show top 50)    (show all 60)
idTitleAuthorsYear
1
Effect of autologous muscle-derived cells in the treatment of urinary incontinence in female patients with intrinsic sphincter deficiency and epispadias: A prospective study. (27062371)
2016
2
Resveratrol improves vasoprotective effects of captopril on aortic remodeling and fibrosis triggered by renovascular hypertension. (26764145)
2016
3
Twenty-four-hour monitoring of scrotal temperature in obese men and men with a varicocele as a mirror of spermatogenic function. (25779699)
2015
4
Chronic treatment with the glucocorticoid receptor antagonist RU486 inhibits diabetes-induced enhancement of experimental periodontitis. (23586673)
2014
5
Structural signature of the G719S-T790M double mutation in the EGFR kinase domain and its response to inhibitors. (25091415)
2014
6
Variations of the perforin gene in patients with chronic inflammatory demyelinating polyradiculoneuropathy. (25354579)
2014
7
Effect of Wnt3a on keratinocytes utilizing in vitro and bioinformatics analysis. (24686518)
2014
8
Study on the safety and efficacy of tocilizumab, an anti-IL-6 receptor antibody, in patients with rheumatoid arthritis complicated with AA amyloidosis. (24252016)
2013
9
Randomized Clinical Trial of an Emergency Department Observation Syncope Protocol Versus Routine Inpatient Admission. (24239341)
2013
10
Familial isolated pituitary adenoma caused by a Aip gene mutation not described before in a family context. (24078436)
2013
11
Modification of surface and enzymatic properties of Achromobacter denitrificans and Stenotrophomonas maltophilia in association with diesel oil biodegradation enhanced with alkyl polyglucosides. (23777790)
2013
12
Levodopa reinstates connectivity from prefrontal to premotor cortex during externally paced movement in Parkinson's disease. (24269570)
2013
13
Infertility and adenomyosis. (22242025)
2012
14
Prurigo nodularis in hepatitis C infection: result of an occupational disease? (22002555)
2012
15
BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition. (21344540)
2011
16
Performance and utility of transient elastography and noninvasive markers of liver fibrosis in primary biliary cirrhosis. (21783442)
2011
17
Aggregation of I+-synuclein in brain samples from subjects with glucocerebrosidase mutations. (21742527)
2011
18
Flow cytometry confirms reticulate evolution and reveals triploidy in Central European Diphasiastrum taxa (Lycopodiaceae, Lycophyta). (21835817)
2011
19
The relationship between the expression of EGFR NF-kappaB and radiosensitivity in human nasopharyngeal carcinoma]. (19947250)
2009
20
HOIL-1 is not required for iron-mediated IRP2 degradation in HEK293 cells. (17822790)
2008
21
Elderly onset systemic lupus erythematosus (SLE) presenting with disseminated intravascular coagulation (DIC). (18095013)
2008
22
Clinical and laboratory features of Crimean-Congo hemorrhagic fever: predictors of fatality. (18063402)
2008
23
Rare ileal localisation of angiolipoma presenting as chronic haemorrhage and severe anaemia: a case report. (18442422)
2008
24
Antibody targeting of B-cell maturation antigen on malignant plasma cells. (18025285)
2007
25
Safety of celecoxib in patients with cutaneous reactions due to ASA-NSAIDs intolerance. (17663920)
2007
26
Synthesis and structure-activity relationships of 4-hydroxy-4-phenylpiperidines as nociceptin receptor ligands: Part 1. (17428659)
2007
27
Acute alcoholic hepatitis. (17016141)
2006
28
The phosducin-like protein PhnA is required for Gbetagamma-mediated signaling for vegetative growth, developmental control, and toxin biosynthesis in Aspergillus nidulans. (16467480)
2006
29
The alpha 2 type IX collagen gene tryptophan polymorphism is not associated with rheumatoid arthritis in the Japanese population. (16249825)
2006
30
Down-regulation of c-Fos/c-Jun AP-1 dimer activity by sumoylation. (16055710)
2005
31
Optical coherence tomography of optic disc swelling in acute primary angle-closure glaucoma. (15824237)
2005
32
Pulmonary alveolar microlithiasis: report of four familial cases. (15198907)
2004
33
Molecular and functional characterization of type I signal peptidase from Legionella pneumophila. (15133109)
2004
34
Small fiber neuropathy: a common and important clinical disorder. (15546602)
2004
35
The role of the matrix metalloproteinases in human endometrial and ovarian cycles. (14597237)
2003
36
The expression of adhesion molecules in muscle biopsies: the LFA-1/VLA-4 ratio in polymyositis. (12580864)
2003
37
An endogenous capsaicin-like substance with high potency at recombinant and native vanilloid VR1 receptors. (12060783)
2002
38
Serum zinc status in chronic hepatitis B and its relationship to liver histology and treatment results. (11472586)
2001
39
Design of two etoposide-amsacrine conjugates: topoisomerase II and tubuline polymerization inhibition and relation to cytotoxicity. (11716434)
2000
40
Developmental-dependent DNA methylation of the IGF2 and H19 promoters is correlated to the promoter activities in human liver development. (9712523)
1998
41
Solitary bone cyst of the jaws: radiographic review of 44 cases. (9503460)
1998
42
Villin, cytokeratin 7, and cytokeratin 20 expression in pulmonary adenocarcinoma with ultrastructural evidence of microvilli with rootlets. (9563790)
1998
43
Chromosomal localization of the human smoothened gene (SMOH) to 7q32. 3 by fluorescence in situ hybridization and radiation hybrid mapping. (9628830)
1998
44
Identification of a highly specific surface marker of T-cell acute lymphoblastic leukemia and neuroblastoma as a new member of the transmembrane 4 superfamily. (7768645)
1995
45
Behavioral engagement level, variability, and diurnal rhythm as a function of bright light in bipolar II seasonal affective disorder: an exploratory study. (1410070)
1992
46
Coexpression of renin, angiotensinogen, and their messenger ribonucleic acids in adrenal tissues. (1381371)
1992
47
Seasonal affective disorder and season-dependent abnormalities of melatonin suppression by light. (1975891)
1990
48
Abnormal tryptophan metabolism in patients with scurvy-type skin. (4346134)
1973
49
AN UNUSUAL BULLET WOUND PRODUCING URETHRAL OBSTRUCTION IN A DOG. (14049525)
1963
50
Calcified gastric leiomyoma. (13882460)
1962

Variations for Spondylocostal Dysostosis

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Expression for genes affiliated with Spondylocostal Dysostosis

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Search GEO for disease gene expression data for Spondylocostal Dysostosis.

Pathways for genes affiliated with Spondylocostal Dysostosis

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Pathways related to Spondylocostal Dysostosis according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.4DLL3, TBX6

GO Terms for genes affiliated with Spondylocostal Dysostosis

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Biological processes related to Spondylocostal Dysostosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1compartment pattern specificationGO:000738610.0DLL3, LFNG
2post-anal tail morphogenesisGO:00363429.5HES7, RIPPLY2
3Notch signaling pathwayGO:00072199.4DLL3, RIPPLY2
4somitogenesisGO:00017568.9HES7, LFNG, RIPPLY2
5negative regulation of transcription from RNA polymerase II promoterGO:00001228.6HES7, RIPPLY2, TBX6

Sources for Spondylocostal Dysostosis

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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