STD
MCID: SPN016
MIFTS: 55

Spondylocostal Dysostosis (STD) malady

Genetic diseases, Rare diseases, Infectious diseases, Bone diseases, Metabolic diseases, Fetal diseases categories
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Summaries for Spondylocostal Dysostosis

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NIH Rare Diseases:42 Spondylothoracic dysostosis, a condition also known as jarcho-levin syndrome, is a genetic disorder of bone development that affects the spinal column and ribs. infants with jarcho-levin syndrome have fused vertebrae and poorly developed ribs, resulting in a chest cavity that has difficulty accommodating growing lungs. it is caused by mutations in the mesp2 gene and is inherited in an autosomal recessive fashion. spondylothoracic dysostosis can occur in any population, however it occurs most frequently in people of puerto rican ancestry. careful assessment by an expert radiographer is required to distinguish spondylothoracic dysostosis from other similar rare conditions involving vertebral and rib anomalies (e.g., spondylocostal dysostosis, autosomal recessive). last updated: 4/15/2010

MalaCards based summary: Spondylocostal Dysostosis, also known as spondylothoracic dysostosis, is related to dysostosis and spondylocostal dysostosis 1, and has symptoms including An important gene associated with Spondylocostal Dysostosis is LFNG (LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase), and among its related pathways are Other types of O-glycan biosynthesis and Development NOTCH1 mediated pathway for NF KB activity modulation. Affiliated tissues include vertebrae or, bone and lung, and related mouse phenotypes are vision/eye and limbs/digits/tail.

Disease Ontology:8 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.

CDC:3 Adolescents and Young Adults, Gay, Bisexual and Other MSM, STDs & Pregnancy

Genetics Home Reference:21 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:65 Spondylocostal dysostosis is a rare, heritable axial skeleton growth disorder. It is characterized by... more...

Descriptions from OMIM:46 277300,609813,613686,608681,122600

GeneReviews summary for spondylothor-d

Aliases & Classifications for Spondylocostal Dysostosis

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Spondylocostal Dysostosis, Aliases & Descriptions:

Name: Spondylocostal Dysostosis 8 20 22 21 10 62
Spondylothoracic Dysostosis 8 19 42 20 21 62
Jarcho-Levin Syndrome 8 42 22 21 62
Spondylothoracic Dysplasia 8 42 62
Spondylocostal Dysostosis, Autosomal Recessive 3 8 9
 
Spondylocostal Dysostosis 3, Autosomal Recessive 46
Sexually Transmitted Diseases 62
Scdo 21
Std 21


Classifications:



External Ids:

Disease Ontology8 DOID:0050568
ICD1025 A64

Related Diseases for Spondylocostal Dysostosis

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Diseases in the Spondylocostal Dysostosis family:

Spondylocostal Dysostosis 1 Spondylocostal Dysostosis 2
Spondylocostal Dysostosis 3 Spondylocostal Dysostosis 4

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

(show top 50)    (show all 61)
idRelated DiseaseScoreTop Affiliating Genes
1dysostosis31.9DLL3
2spondylocostal dysostosis 130.8DLL3, LFNG, MESP2, HES7
3spondylocostal dysostosis 210.6
4spondylocostal dysostosis, autosomal recessive10.6
5gonorrhea10.6
6urethritis10.5
7spondylocostal dysostosis 410.5
8spondylocostal dysostosis - anal and genitourinary malformations10.5
9spondylocostal dysostosis 310.4
10spondylocostal dysostosis 5, autosomal dominant10.4
11wilms tumor10.4
12hiv/aids10.4
13genital herpes10.4
14split cord malformation10.4
15dll3-related spondylocostal dysostosis, autosomal recessive10.4
16lfng-related spondylocostal dysostosis, autosomal recessive10.4
17mesp2-related spondylocostal dysostosis, autosomal recessive10.4
18spondylocostal dysostosis, autosomal dominant10.4
19hes7-related spondylocostal dysostosis, autosomal recessive10.4
20spondylocostal dysostosis 4, autosomal recessive10.4
21spondylocostal dysostosis - hypospadias - intellectual disability10.4
22hepatitis10.3
23herpes simplex10.3
24viral hepatitis10.3
25congenital heart disease10.3
26bacterial vaginosis10.2
27syphilis10.2
28vaginitis10.2
29neural tube defects10.2
30situs inversus10.2
31tetralogy of fallot10.2
32dextrocardia10.2
33cervicitis10.2
34leiomyoma10.2
35chondrodysplasia10.2
36dextrocardia with situs inversus10.2
37myelomeningocele10.2
38tetrasomy 9p10.2
39polydactyly10.2
40bacteriuria10.1
41infertility10.1
42pelvic inflammatory disease10.1
43vaginal discharge10.1
44vulvovaginitis10.0
45vulvovaginal candidiasis10.0
46hidradenitis suppurativa10.0
47trichomoniasis10.0
48acquired immunodeficiency syndrome10.0
49urethral syndrome10.0
50lymphogranuloma venereum10.0

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



Diseases related to spondylocostal dysostosis

Symptoms for Spondylocostal Dysostosis

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Clinical features from OMIM:

277300,609813,613686,608681,122600

HPO human phenotypes related to Spondylocostal Dysostosis:

id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 slender finger HP:0001238
3 scoliosis HP:0002650
4 vertebral segmentation defect HP:0003422
5 supernumerary vertebral ossification centers HP:0004598

Drugs & Therapeutics for Spondylocostal Dysostosis

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Drug clinical trials:

Search ClinicalTrials for Spondylocostal Dysostosis

Search 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 Dysostosis20 22 MESP2
2 Spondylothoracic Dysostosis20 MESP2
3 Jarcho-Levin Syndrome22

Anatomical Context for Spondylocostal Dysostosis

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MalaCards organs/tissues related to Spondylocostal Dysostosis:

32
Bone, Lung, Spleen

FMA organs/tissues related to Spondylocostal Dysostosis:

14
Vertebrae or

Animal Models for Spondylocostal Dysostosis or affiliated genes

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Publications for Spondylocostal Dysostosis

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Articles related to Spondylocostal Dysostosis:

(show top 50)    (show all 55)
idTitleAuthorsYear
1
Spondylocostal dysostosis with tetralogy of Fallot and herniation of the spleen through the diaphragm. (24666313)
2014
2
A rare case of fetal spondylocostal dysostosis - prenatal diagnosis and perinatal care in a patient with multiple large leiomyomas. (23599829)
2013
3
Mutation of HES7 in a large extended family with spondylocostal dysostosis and dextrocardia with situs inversus. (23897666)
2013
4
Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6. (23335591)
2013
5
Spondylocostal dysostosis associated with type I split cord malformation and double nipple on one side: a case report. (23546915)
2013
6
Spatiotemporal disorder in the axial skeleton development of the Mesp2-null mouse: a model of spondylocostal dysostosis and spondylothoracic dysostosis. (23238123)
2013
7
Clinical and radiological distinction between spondylothoracic dysostosis (Lavy-Moseley syndrome) and spondylocostal dysostosis (Jarcho-Levin syndrome). (21174082)
2011
8
Notch inhibition by the ligand DELTA-LIKE 3 defines the mechanism of abnormal vertebral segmentation in spondylocostal dysostosis. (21147753)
2011
9
Genetic and clinical profiles of spondylocostal dysostosis patients in Taiwan. (22052723)
2011
10
Autosomal dominant spondylocostal dysostosis in three generations of a Macedonian family: Negative mutation analysis of DLL3, MESP2, HES7, and LFNG. (20503311)
2010
11
Two novel missense mutations in HAIRY-AND-ENHANCER-OF-SPLIT-7 in a family with spondylocostal dysostosis. (20087400)
2010
12
Spondylocostal dysostosis associated with methylmalonic aciduria. (19371216)
2009
13
Spinal anesthesia for Cesarean delivery in a parturient with spondylocostal dysostosis. (19247767)
2009
14
Spondylocostal dysostosis associated with diaphragmatic hernia and neural tube defects. (18388793)
2008
15
Spondylocostal dysostosis in a pregnancy complicated by confined placental mosaicism for tetrasomy 9p. (18627039)
2008
16
Diffuse skull base/cervical fusion syndromes in two siblings with spondylocostal dysostosis syndrome: analysis via three dimensional computed tomography scanning. (18520929)
2008
17
Mutation of Hairy-and-Enhancer-of-Split-7 in humans causes spondylocostal dysostosis. (18775957)
2008
18
Spondylocostal dysostosis, anal and genitourinary malformations in a fetal case: a new case of Casamassima-Morton-Nance syndrome? (17056308)
2007
19
Prenatal diagnosis of spondylocostal dysostosis with 3-dimensional ultrasonography. (16567446)
2006
20
A thoracic myelomeningocele in a patient with spondylocostal dysostosis. Case report. (16509479)
2006
21
Three-dimensional ultrasound findings of spondylocostal dysostosis in the second trimester of pregnancy. (16619382)
2006
22
Spine and rib abnormalities and stature in spondylocostal dysostosis. (16582839)
2006
23
Mutation of the LUNATIC FRINGE gene in humans causes spondylocostal dysostosis with a severe vertebral phenotype. (16385447)
2006
24
Mutated MESP2 causes spondylocostal dysostosis in humans. (15122512)
2004
25
Pseudodominant inheritance of spondylocostal dysostosis type 1 caused by two familial delta-like 3 mutations. (15200511)
2004
26
Association of spondylocostal dysostosis and type I split cord malformation. (14600825)
2003
27
A cluster of autosomal recessive spondylocostal dysostosis caused by three newly identified DLL3 mutations segregating in a small village. (12791036)
2003
28
Molecular genetic prenatal diagnosis for a case of autosomal recessive spondylocostal dysostosis. (12868087)
2003
29
Novel mutations in DLL3, a somitogenesis gene encoding a ligand for the Notch signalling pathway, cause a consistent pattern of abnormal vertebral segmentation in spondylocostal dysostosis. (12746394)
2003
30
Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis. (10742114)
2000
31
Prenatal sonographic features of spondylocostal dysostosis and diaphragmatic hernia in the first trimester. (10204217)
1999
32
A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3. (10364530)
1999
33
A case of spondylocostal dysostosis with a fra (5) (q32). (9433158)
1997
34
Spondylocostal dysostosis associated with a 46, XX,+15,dic(6;15)(q25;q11.2) translocation. (9354844)
1997
35
Monozygotic twins discordant for spondylocostal dysostosis. (7747763)
1994
36
Spondylocostal dysostosis with perinatal death and meningomyelocele. (8159620)
1994
37
Chest-wall reconstruction for spondylocostal dysostosis. (8356136)
1993
38
Spondylocostal Dysostosis, Autosomal Recessive (20301771)
1993
39
Spondylocostal dysostosis. (8200707)
1993
40
Identical twins with an autosomal recessive form of spondylocostal dysostosis. (1623623)
1992
41
Evidence for variable gene expression in a large inbred kindred with autosomal recessive spondylocostal dysostosis. (1999829)
1991
42
Spondylocostal dysostosis: dominant type. (2309760)
1990
43
Spondylocostal dysostosis: an example of autosomal dominant transmission in a large family. (2805381)
1989
44
Spondylothoracic and spondylocostal dysostosis. Hereditary forms of spinal deformity. (3339042)
1988
45
Spondylocostal dysostosis: report of three patients. (3331396)
1987
46
A new lethal chondrodysplasia with spondylocostal dysostosis, multiple internal anomalies and Dandy-Walker cyst. (3884191)
1985
47
Spondylocostal dysostosis. (6694190)
1984
48
Spondylocostal dysostosis associated with anal and urogenital anomalies in a Mennonite sibship. (7246601)
1981
49
Spondylocostal dysostosis in South African sisters. (7460377)
1981
50
Spondylocostal dysostosis and urinary tract anomaly: definition and review of an entity. (668719)
1978

Variations for Spondylocostal Dysostosis

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UniProtKB/Swiss-Prot genetic disease variations for Spondylocostal Dysostosis:

64
id Symbol AA change Variation ID SNP ID
1LFNGp.Phe188LeuVAR_025850

Clinvar genetic disease variations for Spondylocostal Dysostosis:

6
id Gene Name Type Significance SNP ID Assembly Location
1DLL3NM_016941.3(DLL3): c.1154G> A (p.Gly385Asp)single nucleotide variantPathogenicrs104894674GRCh37Chr 19, 39997739: 39997739
2DLL3NM_016941.3(DLL3): c.712C> T (p.Arg238Ter)single nucleotide variantPathogenicrs104894675GRCh37Chr 19, 39994770: 39994770
3DLL3NM_016941.3(DLL3): c.1511G> A (p.Gly504Asp)single nucleotide variantPathogenicrs104894676GRCh37Chr 19, 39998096: 39998096
4LFNGNM_001040168.1(LFNG): c.564C> A (p.Phe188Leu)single nucleotide variantPathogenicrs104894024GRCh37Chr 7, 2564935: 2564935

Expression for genes affiliated with Spondylocostal Dysostosis

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Expression patterns in normal tissues for genes affiliated with Spondylocostal Dysostosis

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Pathways for genes affiliated with Spondylocostal Dysostosis

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Pathways related to Spondylocostal Dysostosis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7LFNG, POFUT1
2
Show member pathways
Development Notch Signaling Pathway60
Transcription Sin3 and NuRD in transcription regulation60
9.6NOTCH1, LFNG
3
Show member pathways
Notch signaling pathway37
9.6DLL3, NOTCH1
49.6NOTCH1, DLL3
59.2DLL3, TBX6, NOTCH1
6
Show member pathways
9.1NOTCH1, LFNG, POFUT1
7
Show member pathways
9.1NOTCH1, LFNG, POFUT1
89.1NOTCH1, DLL3, POFUT1
9
Show member pathways
Delta-Notch Signaling Pathway37
Notch Signaling Pathway37
8.8NOTCH1, DLL3, LFNG, POFUT1
108.7MESP1, MESP2, NOTCH1

Compounds for genes affiliated with Spondylocostal Dysostosis

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GO Terms for genes affiliated with Spondylocostal Dysostosis

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Biological processes related to Spondylocostal Dysostosis according to GeneCards/GeneDecks:

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1mesoderm developmentGO:0074989.9TBX6, HES7
2negative regulation of neurogenesisGO:0507689.8NOTCH1, DLL3
3cell fate specificationGO:0017089.7TBX6, NOTCH1
4mesodermal cell migrationGO:0080789.6MESP2, MESP1
5compartment pattern specificationGO:0073869.6NOTCH1, DLL3, LFNG
6skeletal system developmentGO:0015019.5DLL3, HES7
7positive regulation of Notch signaling pathwayGO:0457479.5LFNG, MESP1
8regulation of somitogenesisGO:0148079.5HES7, LFNG, NOTCH1
9negative regulation of BMP signaling pathwayGO:0305149.4BMPER, NOTCH1
10heart developmentGO:0075079.4NOTCH1, POFUT1
11growth involved in heart morphogenesisGO:0032419.3MESP1, NOTCH1
12signal transduction involved in regulation of gene expressionGO:0230199.2TBX6, MESP2, MESP1
13somitogenesisGO:0017569.1POFUT1, HES7, MESP2, LFNG, DLL3
14negative regulation of transcription from RNA polymerase II promoterGO:0001229.0HES7, TBX6, NOTCH1
15heart loopingGO:0019479.0NOTCH1, MESP1
16Notch signaling pathwayGO:0072197.6NOTCH1, DLL3, LFNG, MESP2, MESP1, HES7

Molecular functions related to Spondylocostal Dysostosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein dimerization activityGO:0469838.7MESP2, MESP1, HES7
2sequence-specific DNA binding transcription factor activityGO:0037008.3NOTCH1, TBX6, MESP2, MESP1

Products for genes affiliated with Spondylocostal Dysostosis

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Sources for Spondylocostal Dysostosis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
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36MGI
39NCIt
40NDF-RT
43NINDS
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47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet