MCID: SPN310
MIFTS: 42

Spondylocostal Dysostosis 1, Autosomal Recessive malady

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

Aliases & Classifications for Spondylocostal Dysostosis 1, Autosomal Recessive

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Aliases & Descriptions for Spondylocostal Dysostosis 1, Autosomal Recessive:

Name: Spondylocostal Dysostosis 1, Autosomal Recessive 52 70
Spondylocostal Dysostosis 11 48 24 25 13
Jarcho-Levin Syndrome 11 25 70 27 68
Costovertebral Dysplasia 48 24 70
Spondylothoracic Dysostosis 11 70
Spondylothoracic Dysplasia 11 70
Scdo 48 25
 
Spondylocostal Dysostosis, Autosomal Recessive, 1 12
Spondylocostal Dysostosis, Autosomal Recessive 3 11
Spondylocostal Dysostosis, Autosomal Recessive 1 27
Spondylocostal Dysplasia 24
Vertebral Anomalies 50
Scdo1 70

Characteristics:

HPO:

64
spondylocostal dysostosis 1, autosomal recessive:
Inheritance: autosomal recessive inheritance
Mortality/Aging: death in infancy

Classifications:



External Ids:

OMIM52 277300
Disease Ontology11 DOID:0050568
MedGen37 C0265343
MeSH39 D004413

Summaries for Spondylocostal Dysostosis 1, Autosomal Recessive

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NIH Rare Diseases:48 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 1, Autosomal Recessive, also known as spondylocostal dysostosis, is related to hajdu-cheney syndrome and spondylocostal dysostosis 5, and has symptoms including short neck, rib fusion and recurrent respiratory infections. An important gene associated with Spondylocostal Dysostosis 1, Autosomal Recessive is DLL3 (Delta Like Canonical Notch Ligand 3), and among its related pathways are Cardiac Progenitor Differentiation and Other types of O-glycan biosynthesis. Affiliated tissues include vertebrae or and bone, and related mouse phenotypes are muscle and reproductive system.

Disease Ontology:11 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.

UniProtKB/Swiss-Prot:70 Spondylocostal dysostosis 1, autosomal recessive: A condition of variable severity associated with vertebral and rib segmentation defects. The main skeletal malformations include fusion of vertebrae, hemivertebrae, fusion of certain ribs, and other rib malformations. Deformity of the chest and spine (severe scoliosis, kyphoscoliosis and lordosis) is a natural consequence of the malformation and leads to a dwarf-like appearance. As the thorax is small, infants frequently have respiratory insufficiency and repeated respiratory infections resulting in life-threatening complications in the first year of life.

Genetics Home Reference:25 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 spinal abnormalities, some of the rib bones may be fused together or missing. Affected individuals have short, rigid necks and short torsos 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.

OMIM:52 The spondylocostal dysostoses are a heterogeneous group of axial skeletal disorders characterized by multiple... (277300) more...

Wikipedia:71 Spondylocostal dysostosis is a rare, heritable axial skeleton growth disorder. It is characterized by... more...

Related Diseases for Spondylocostal Dysostosis 1, Autosomal Recessive

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Diseases in the Spondylocostal Dysostosis, Autosomal Recessive 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 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

Diseases related to Spondylocostal Dysostosis 1, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 72)
idRelated DiseaseScoreTop Affiliating Genes
1hajdu-cheney syndrome30.5DLL3, HES7, NOTCH1
2spondylocostal dysostosis 512.4
3spondylocostal dysostosis 612.3
4spondylocostal dysostosis 2, autosomal recessive12.3
5spondylocostal dysostosis 4, autosomal recessive12.3
6spondylocostal dysostosis 3, autosomal recessive12.3
7spondylocostal dysostosis, autosomal recessive12.2
8sacral agenesis with vertebral anomalies12.1
9spondylocostal dysostosis 212.0
10mesp2-related spondylocostal dysostosis, autosomal recessive12.0
11spondylocostal dysostosis with anal atresia and urogenital anomalies12.0
12spondylocostal dysostosis 312.0
13spondylocostal dysostosis 412.0
14hes7-related spondylocostal dysostosis, autosomal recessive12.0
15lfng-related spondylocostal dysostosis, autosomal recessive12.0
16hydrocephalus, sprengel anomaly, and costovertebral dysplasia12.0
17dll3-related spondylocostal dysostosis, autosomal recessive12.0
18polydactyly, postaxial, with dental and vertebral anomalies11.9
19cleft palate short stature vertebral anomalies11.9
20multiple vertebral anomalies unusual facies11.8
21spondylocostal dysostosis 111.1
22vater association with macrocephaly and ventriculomegaly10.9
23vacterl association, x-linked10.9
24feingold syndrome10.9
25vater/vacterl association10.9
26tethered cord syndrome10.8
27robinow syndrome, autosomal dominant 110.7
28feingold syndrome 210.7
29microphthalmia with limb anomalies10.7
30lateral meningocele syndrome10.7
31pseudoachondroplasia10.7
32oculocerebrocutaneous syndrome10.7
33sclerosteosis10.1DLL3, MESP2
34hemochromatosis, type 2b10.1DLL3, PAX1
35imperforate anus10.1
36polydactyly10.0
37nonsyndromic congenital nail disorder 59.9HES7, PAX1
38diastematomyelia9.8
39meningocele9.8
40cervicitis9.8
41dwarfism9.8
42vitamin k-dependent clotting factors, combined deficiency of, 29.8HES7, MESP2, TBX6
43tracheoesophageal fistula9.7
44microtia9.7
45neurenteric cyst9.7
46caudal regression syndrome9.5
47ellis-van creveld syndrome9.5
48tetralogy of fallot9.5
49pfeiffer syndrome9.5
50lipoma9.5

Graphical network of the top 20 diseases related to Spondylocostal Dysostosis 1, Autosomal Recessive:



Diseases related to spondylocostal dysostosis 1, autosomal recessive

Symptoms & Phenotypes for Spondylocostal Dysostosis 1, Autosomal Recessive

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Symptoms by clinical synopsis from OMIM:

277300

Clinical features from OMIM:

277300

Human phenotypes related to Spondylocostal Dysostosis 1, Autosomal Recessive:

 64 (show all 8)
id Description HPO Frequency HPO Source Accession
1 short neck64 HP:0000470
2 rib fusion64 HP:0000902
3 recurrent respiratory infections64 HP:0002205
4 hemivertebrae64 HP:0002937
5 block vertebrae64 HP:0003305
6 abnormality of the odontoid process64 HP:0003310
7 severe short stature64 HP:0003510
8 disproportionate short-trunk short stature64 HP:0003521

MGI Mouse Phenotypes related to Spondylocostal Dysostosis 1, Autosomal Recessive according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053699.1DLL3, MESP2, NOTCH1, PAX1, POFUT1
2MP:00053899.0DLL3, LFNG, PAX1, POFUT1, TBX6
3MP:00053858.5LFNG, MESP2, NOTCH1, PAX1, POFUT1, TBX6
4MP:00053718.4DLL3, HES7, LFNG, MESP2, PAX1, POFUT1
5MP:00036318.1DLL3, LFNG, MESP2, NOTCH1, PAX1, POFUT1
6MP:00053807.8DLL3, HES7, LFNG, MESP2, NOTCH1, PAX1
7MP:00053787.7DLL3, HES7, LFNG, MESP2, NOTCH1, PAX1
8MP:00107687.7DLL3, HES7, LFNG, MESP2, NOTCH1, PAX1
9MP:00053906.9DLL3, HES7, LFNG, MESP2, NOTCH1, PAX1

Drugs & Therapeutics for Spondylocostal Dysostosis 1, Autosomal Recessive

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Spondylocostal Dysostosis 1, Autosomal Recessive

Genetic Tests for Spondylocostal Dysostosis 1, Autosomal Recessive

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Genetic tests related to Spondylocostal Dysostosis 1, Autosomal Recessive:

id Genetic test Affiliating Genes
1 Spondylocostal Dysostosis 1, Autosomal Recessive27
2 Jarcho-Levin Syndrome27
3 Spondylocostal Dysostosis24 MESP2

Anatomical Context for Spondylocostal Dysostosis 1, Autosomal Recessive

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MalaCards organs/tissues related to Spondylocostal Dysostosis 1, Autosomal Recessive:

36
Bone

FMA organs/tissues related to Spondylocostal Dysostosis 1, Autosomal Recessive:

17
Vertebrae or

Publications for Spondylocostal Dysostosis 1, Autosomal Recessive

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Variations for Spondylocostal Dysostosis 1, Autosomal Recessive

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UniProtKB/Swiss-Prot genetic disease variations for Spondylocostal Dysostosis 1, Autosomal Recessive:

70
id Symbol AA change Variation ID SNP ID
1DLL3p.Gly385AspVAR_009952rs104894674

Clinvar genetic disease variations for Spondylocostal Dysostosis 1, Autosomal Recessive:

5
id Gene Variation Type Significance SNP ID Assembly Location
1DLL3NM_016941.3(DLL3): c.599_603dupGCGGT (p.Pro202Alafs)duplicationPathogenicrs786200899GRCh38Chr 19, 39503004: 39503008
2DLL3NM_016941.3(DLL3): c.945_946delAT (p.Ala317Argfs)deletionPathogenicrs786200900GRCh38Chr 19, 39505303: 39505304
3DLL3NM_016941.3(DLL3): c.1154G> A (p.Gly385Asp)SNVPathogenicrs104894674GRCh37Chr 19, 39997739: 39997739
4DLL3NM_016941.3(DLL3): c.1291_1307dup17 (p.Pro437Thrfs)duplicationPathogenicrs786200901GRCh38Chr 19, 39507236: 39507252
5DLL3NM_016941.3(DLL3): c.618delC (p.Cys207Alafs)deletionPathogenicrs786200902GRCh38Chr 19, 39503023: 39503023
6DLL3NM_016941.3(DLL3): c.712C> T (p.Arg238Ter)SNVPathogenicrs104894675GRCh37Chr 19, 39994770: 39994770
7DLL3NM_016941.3(DLL3): c.1440delG (p.Pro481Argfs)deletionPathogenicrs786200903GRCh38Chr 19, 39507385: 39507385
8DLL3NM_016941.3(DLL3): c.1511G> A (p.Gly504Asp)SNVPathogenicrs104894676GRCh37Chr 19, 39998096: 39998096

Copy number variations for Spondylocostal Dysostosis 1, Autosomal Recessive from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
196229158690000092100000Copy numberMESP2Spondylocostal dysostosis
211653617680000011200000Copy numberHES7Spondylocostal dysostosis
3128868194340000047800000Copy numberDLL3Spondylocostal dysostosis
4223467721000004500000Copy numberLFNGSpondylocostal dysostosis

Expression for genes affiliated with Spondylocostal Dysostosis 1, Autosomal Recessive

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Search GEO for disease gene expression data for Spondylocostal Dysostosis 1, Autosomal Recessive.

Pathways for genes affiliated with Spondylocostal Dysostosis 1, Autosomal Recessive

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GO Terms for genes affiliated with Spondylocostal Dysostosis 1, Autosomal Recessive

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Biological processes related to Spondylocostal Dysostosis 1, Autosomal Recessive according to GeneCards Suite gene sharing:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1mesoderm developmentGO:000749810.2HES7, TBX6
2negative regulation of neurogenesisGO:005076810.2DLL3, NOTCH1
3cell fate specificationGO:000170810.0NOTCH1, TBX6
4positive regulation of Notch signaling pathwayGO:00457479.9LFNG, NOTCH1
5regulation of Notch signaling pathwayGO:00085939.9LFNG, NOTCH1
6skeletal system developmentGO:00015019.8DLL3, HES7, PAX1
7compartment pattern specificationGO:00073869.7DLL3, LFNG, NOTCH1
8regulation of somitogenesisGO:00148079.5HES7, LFNG, NOTCH1
9Notch signaling pathwayGO:00072198.9DLL3, HES7, MESP2, NOTCH1, POFUT1
10somitogenesisGO:00017568.3DLL3, HES7, LFNG, PAX1, POFUT1

Molecular functions related to Spondylocostal Dysostosis 1, Autosomal Recessive according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1Notch bindingGO:00051129.5DLL3, NOTCH1

Sources for Spondylocostal Dysostosis 1, Autosomal Recessive

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
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46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet