STD
MCID: SPN016
MIFTS: 51

Spondylocostal Dysostosis (STD) malady

Infectious diseases category

Summaries for Spondylocostal Dysostosis

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8Disease Ontology, 21Genetics Home Reference, 42NIH Rare Diseases, 3CDC, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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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: Spondylocostal Dysostosis, also known as spondylothoracic dysostosis, is related to dysostosis and spondylocostal dysostosis 1. 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 Signaling by NOTCH3. Affiliated tissues include vertebrae or, bone and lung, and related mouse phenotypes are hearing/vestibular/ear and respiratory system.

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.

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.

CDC:3 This year, we highlight that STD Prevention is a part of HIV Prevention.

Wikipedia:63 Spondylocostal dysostosis is a rare, heritable axial skeleton growth disorder. It is characterized by... more...

Description from OMIM:46 609813,608681,613686,277300

GeneReviews summary for spondylothor-d

Aliases & Classifications for Spondylocostal Dysostosis

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8Disease Ontology, 20GeneTests, 22GTR, 21Genetics Home Reference, 10DISEASES, 19GeneReviews, 42NIH Rare Diseases, 60UMLS, 9diseasecard, 46OMIM, 25ICD10
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Infectious diseases


Aliases & Descriptions:

spondylocostal dysostosis 8 20 22 21 10
spondylothoracic dysostosis 8 19 42 20 21
jarcho-levin syndrome 8 42 22 21 60
spondylocostal dysostosis, autosomal recessive 3 8 9
spondylothoracic dysplasia 8 42
spondylocostal dysostosis 3, autosomal recessive 46
sexually transmitted diseases 60
scdo 21
std 21


External Ids:

Disease Ontology8 DOID:0050568
ICD1025 A64

Related Diseases for Spondylocostal Dysostosis

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17GeneCards, 18GeneDecks
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Diseases in the Spondylocostal Dysostosis 1 family:

spondylocostal dysostosis Spondylocostal Dysostosis 4
Spondylocostal Dysostosis 2 Spondylocostal Dysostosis 3

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

(show top 50)    (show all 96)
idRelated DiseaseScoreTop Affiliating Genes
1dysostosis31.5DLL3
2spondylocostal dysostosis 130.8LFNG, HES7, MESP2, DLL3
3spondylocostal dysostosis, autosomal recessive10.7
4spondylocostal dysostosis 210.6
5proctitis10.5
6chancroid10.5
7gonorrhea10.5
8spondylocostal dysostosis 410.5
9spondylocostal dysostosis, autosomal dominant10.5
10spondylocostal dysostosis - anal and genitourinary malformations10.5
11urethritis10.5
12lymphogranuloma venereum10.4
13spondylocostal dysostosis 310.4
14lfng-related spondylocostal dysostosis, autosomal recessive10.4
15mesp2-related spondylocostal dysostosis, autosomal recessive10.4
16hes7-related spondylocostal dysostosis, autosomal recessive10.4
17rectal disease10.3
18dll3-related spondylocostal dysostosis, autosomal recessive10.3
19spondylocostal dysostosis 4, autosomal recessive10.3
20spondylocostal dysostosis - hypospadias - intellectual deficit10.3
21renal wilms' tumor10.3
22image syndrome10.3
23genital herpes10.3
24primary syphilis10.3
25papilloma10.3
26prostate cancer10.3
27scabies10.3
28hepatitis10.2
29herpes simplex10.2
30viral hepatitis10.2
31dextrocardia10.2
32situs inversus10.2
33cervicitis10.2
34leiomyoma10.2
35polydactyly10.1
36bacterial vaginosis10.1
37syphilis10.1
38vaginitis10.1
39peri-anal fistula10.1
40cryptosporidiosis10.1
41hepatitis c10.1
42diphtheria10.1
43hypochondriasis10.1
44cutaneous diphtheria10.1
45granuloma inguinale10.1
46pyosalpinx10.1
47borna disease10.1
48rectal prolapse10.1
49orchitis10.1
50lichen planus10.1

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



Diseases related to spondylocostal dysostosis

Clinical Features for Spondylocostal Dysostosis

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46OMIM
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Clinical features from OMIM:

609813,608681,613686,277300

Drugs & Therapeutics for Spondylocostal Dysostosis

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Spondylocostal Dysostosis

Drug clinical trials:

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Genetic Tests for Spondylocostal Dysostosis

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20GeneTests, 22GTR
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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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32MalaCards, 14FMA
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MalaCards organs/tissues related to Spondylocostal Dysostosis:

32
Bone, Lung

FMA organs/tissues related to Spondylocostal Dysostosis:

14
Vertebrae or

Animal Models for Spondylocostal Dysostosis or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Spondylocostal Dysostosis:

36 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.9LFNG, BMPER, MESP1, DLL3, NOTCH1
2MP:00053888.7NOTCH1, POFUT1, MESP1, BMPER, LFNG
3MP:00053828.5BMPER, MESP1, DLL3, NOTCH1, PAX1
4MP:00053698.4MESP1, MESP2, POFUT1, DLL3, NOTCH1, PAX1
5MP:00053718.4LFNG, HES7, BMPER, MESP2, TBX6, POFUT1
6MP:00053858.0LFNG, BMPER, MESP1, MESP2, TBX6, POFUT1
7MP:00036317.7LFNG, BMPER, MESP1, MESP2, TBX6, POFUT1
8MP:00053907.6MESP1, BMPER, HES7, LFNG, MESP2, TBX6
9MP:00053787.5MESP1, BMPER, HES7, LFNG, MESP2, TBX6
10MP:00053806.8SRRT, LFNG, HES7, BMPER, MESP1, MESP2
11MP:00107686.7LFNG, HES7, BMPER, MESP1, MESP2, TBX6

Publications for Spondylocostal Dysostosis

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50PubMed
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Articles related to Spondylocostal Dysostosis:

(show top 50)    (show all 55)
idTitleAuthorsYear
1
A rare case of fetal spondylocostal dysostosis - prenatal diagnosis and perinatal care in a patient with multiple large leiomyomas. (23599829)
2013
2
Mutation of HES7 in a large extended family with spondylocostal dysostosis and dextrocardia with situs inversus. (23897666)
2013
3
Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6. (23335591)
2013
4
Spondylocostal dysostosis associated with type I split cord malformation and double nipple on one side: a case report. (23546915)
2013
5
Spatiotemporal disorder in the axial skeleton development of the Mesp2-null mouse: a model of spondylocostal dysostosis and spondylothoracic dysostosis. (23238123)
2013
6
Clinical and radiological distinction between spondylothoracic dysostosis (Lavy-Moseley syndrome) and spondylocostal dysostosis (Jarcho-Levin syndrome). (21174082)
2011
7
Notch inhibition by the ligand DELTA-LIKE 3 defines the mechanism of abnormal vertebral segmentation in spondylocostal dysostosis. (21147753)
2011
8
Genetic and clinical profiles of spondylocostal dysostosis patients in Taiwan. (22052723)
2011
9
Autosomal dominant spondylocostal dysostosis in three generations of a Macedonian family: Negative mutation analysis of DLL3, MESP2, HES7, and LFNG. (20503311)
2010
10
Two novel missense mutations in HAIRY-AND-ENHANCER-OF-SPLIT-7 in a family with spondylocostal dysostosis. (20087400)
2010
11
Spondylocostal dysostosis associated with methylmalonic aciduria. (19371216)
2009
12
Spinal anesthesia for Cesarean delivery in a parturient with spondylocostal dysostosis. (19247767)
2009
13
Spondylocostal dysostosis associated with diaphragmatic hernia and neural tube defects. (18388793)
2008
14
Diffuse skull base/cervical fusion syndromes in two siblings with spondylocostal dysostosis syndrome: analysis via three dimensional computed tomography scanning. (18520929)
2008
15
Mutation of Hairy-and-Enhancer-of-Split-7 in humans causes spondylocostal dysostosis. (18775957)
2008
16
Spondylocostal dysostosis, anal and genitourinary malformations in a fetal case: a new case of Casamassima-Morton-Nance syndrome? (17056308)
2007
17
Prenatal diagnosis of spondylocostal dysostosis with 3-dimensional ultrasonography. (16567446)
2006
18
A thoracic myelomeningocele in a patient with spondylocostal dysostosis. Case report. (16509479)
2006
19
Three-dimensional ultrasound findings of spondylocostal dysostosis in the second trimester of pregnancy. (16619382)
2006
20
Spine and rib abnormalities and stature in spondylocostal dysostosis. (16582839)
2006
21
Mutation of the LUNATIC FRINGE gene in humans causes spondylocostal dysostosis with a severe vertebral phenotype. (16385447)
2006
22
Mutated MESP2 causes spondylocostal dysostosis in humans. (15122512)
2004
23
Pseudodominant inheritance of spondylocostal dysostosis type 1 caused by two familial delta-like 3 mutations. (15200511)
2004
24
Spondylocostal dysostosis: thirteen new cases treated by conservative and surgical means. (15223937)
2004
25
Association of spondylocostal dysostosis and type I split cord malformation. (14600825)
2003
26
A cluster of autosomal recessive spondylocostal dysostosis caused by three newly identified DLL3 mutations segregating in a small village. (12791036)
2003
27
Molecular genetic prenatal diagnosis for a case of autosomal recessive spondylocostal dysostosis. (12868087)
2003
28
Dynamic expression patterns of the pudgy/spondylocostal dysostosis gene Dll3 in the developing nervous system. (11118901)
2001
29
Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis. (10742114)
2000
30
Prenatal sonographic features of spondylocostal dysostosis and diaphragmatic hernia in the first trimester. (10204217)
1999
31
A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3. (10364530)
1999
32
A case of spondylocostal dysostosis with a fra (5) (q32). (9433158)
1997
33
Spondylocostal dysostosis associated with a 46, XX,+15,dic(6;15)(q25;q11.2) translocation. (9354844)
1997
34
Monozygotic twins discordant for spondylocostal dysostosis. (7747763)
1994
35
Spondylocostal dysostosis with perinatal death and meningomyelocele. (8159620)
1994
36
Severe spondylocostal dysostosis associated with other congenital anomalies: a clinical/epidemiologic analysis and description of ten cases from the Spanish registry. (8074145)
1994
37
Spondylocostal Dysostosis, Autosomal Recessive (20301771)
1993
38
Spondylocostal dysostosis. (8200707)
1993
39
Identical twins with an autosomal recessive form of spondylocostal dysostosis. (1623623)
1992
40
Evidence for variable gene expression in a large inbred kindred with autosomal recessive spondylocostal dysostosis. (1999829)
1991
41
Spondylocostal dysostosis: dominant type. (2309760)
1990
42
Spondylocostal dysostosis: an example of autosomal dominant transmission in a large family. (2805381)
1989
43
Spondylothoracic and spondylocostal dysostosis. Hereditary forms of spinal deformity. (3339042)
1988
44
Spondylocostal dysostosis: report of three patients. (3331396)
1987
45
Spondylocostal/spondylothoracic dysostosis: the clinical basis for prognosticating and genetic counseling. (3740094)
1986
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

Genetic Variations for Spondylocostal Dysostosis

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Spondylocostal Dysostosis:

62
id Symbol AA change Variation ID SNP ID
1LFNGp.Phe188LeuVAR_025850

Expression for genes affiliated with Spondylocostal Dysostosis

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1BioGPS, 15Gene Expression Omnibus DataSets
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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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29KEGG, 53Reactome, 37NCBI BioSystems Database, 51QIAGEN, 52R&D Systems
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Compounds for genes affiliated with Spondylocostal Dysostosis

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GO Terms for genes affiliated with Spondylocostal Dysostosis

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16Gene Ontology
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Biological processes related to Spondylocostal Dysostosis according to GeneCards/GeneDecks:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1mesodermal cell migrationGO:00807810.0MESP2, MESP1
2negative regulation of neurogenesisGO:05076810.0DLL3, NOTCH1
3cell fate specificationGO:0017089.9NOTCH1, TBX6
4growth involved in heart morphogenesisGO:0032419.9MESP1, NOTCH1
5compartment pattern specificationGO:0073869.9NOTCH1, DLL3, LFNG
6mesoderm developmentGO:0074989.9TBX6, HES7
7positive regulation of Notch signaling pathwayGO:0457479.8MESP1, LFNG
8signal transduction involved in regulation of gene expressionGO:0230199.8TBX6, MESP2, MESP1
9skeletal system developmentGO:0015019.7HES7, DLL3, PAX1
10heart loopingGO:0019479.7NOTCH1, MESP1
11negative regulation of BMP signaling pathwayGO:0305149.5NOTCH1, BMPER
12neuronal stem cell maintenanceGO:0971509.5SRRT, NOTCH1
13somitogenesisGO:0017569.3HES7, MESP2, POFUT1, DLL3, PAX1
14Notch signaling pathwayGO:0072198.6NOTCH1, DLL3, POFUT1, MESP2, MESP1, HES7

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

idNameGO IDScoreTop Affiliating Genes
1protein dimerization activityGO:0469839.6MESP2, MESP1, HES7

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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40NDF-RT
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