SCDO1
MCID: SPN310
MIFTS: 46

Spondylocostal Dysostosis 1, Autosomal Recessive (SCDO1)

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

Aliases & Classifications for Spondylocostal Dysostosis 1, Autosomal Recessive

MalaCards integrated aliases for Spondylocostal Dysostosis 1, Autosomal Recessive:

Name: Spondylocostal Dysostosis 1, Autosomal Recessive 57 75 29 6
Jarcho-Levin Syndrome 57 75 29 6 73
Spondylothoracic Dysostosis 57 75
Spondylothoracic Dysplasia 57 75
Costovertebral Dysplasia 57 75
Vertebral Anomalies 57 55
Scdo1 57 75
Jarcholevin Syndrome 76

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
spondylocostal dysostosis 1, autosomal recessive:
Mortality/Aging death in infancy
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 277300
MedGen 42 C0265343
MeSH 44 D004413
UMLS 73 C0265343

Summaries for Spondylocostal Dysostosis 1, Autosomal Recessive

UniProtKB/Swiss-Prot : 75 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.

MalaCards based summary : Spondylocostal Dysostosis 1, Autosomal Recessive, also known as jarcho-levin syndrome, is related to spondylocostal dysostosis 3, autosomal recessive and spondylocostal dysostosis, autosomal recessive. An important gene associated with Spondylocostal Dysostosis 1, Autosomal Recessive is DLL3 (Delta Like Canonical Notch Ligand 3), and among its related pathways/superpathways are Wnt / Hedgehog / Notch and Gene regulatory network modelling somitogenesis. Affiliated tissues include bone and heart, and related phenotypes are short neck and recurrent respiratory infections

OMIM : 57 The spondylocostal dysostoses are a heterogeneous group of axial skeletal disorders characterized by multiple segmentation defects of the vertebrae (SDV), malalignment of the ribs with variable points of intercostal fusion, and often a reduction in rib number. The term 'spondylocostal dysostosis' is best applied to those phenotypes with generalized SDV and a broadly symmetric thoracic cage (summary by Gucev et al., 2010). (277300)

Wikipedia : 76 Spondylocostal dysostosis is a rare, heritable axial skeleton growth disorder. It is characterized by... more...

Related Diseases for Spondylocostal Dysostosis 1, Autosomal Recessive

Diseases in the Spondylocostal Dysostosis, Autosomal Recessive family:

Spondylocostal Dysostosis 5 Spondylocostal Dysostosis 1, Autosomal Recessive
Spondylocostal Dysostosis 2, Autosomal Recessive Spondylocostal Dysostosis 3, Autosomal Recessive
Spondylocostal Dysostosis 4, Autosomal Recessive Spondylocostal Dysostosis 6, Autosomal Recessive
Spondylocostal Dysostosis 1 Spondylocostal Dysostosis 2
Spondylocostal Dysostosis 3 Spondylocostal Dysostosis 4

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

(show top 50) (show all 88)
# Related Disease Score Top Affiliating Genes
1 spondylocostal dysostosis 3, autosomal recessive 32.2 DLL3 HES7 LFNG MESP2
2 spondylocostal dysostosis, autosomal recessive 31.4 DLL3 HES7 LFNG MESP2
3 hajdu-cheney syndrome 31.0 DLL3 HES7
4 dysostosis 30.2 DLL3 HES7 LFNG MESP2
5 scoliosis 28.5 DLL3 HES7 LFNG MESP2 PAX1
6 hydrocephalus, sprengel anomaly, and costovertebral dysplasia 12.5
7 sacral agenesis with vertebral anomalies 12.4
8 spondylocostal dysostosis 5 12.4
9 cleft palate short stature vertebral anomalies 12.4
10 ophthalmoplegia, external, with rib and vertebral anomalies 12.3
11 congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome 12.2
12 polydactyly, postaxial, with dental and vertebral anomalies 12.2
13 spondylocostal dysostosis 1 11.4
14 vater/vacterl association 11.3
15 spondylocostal dysostosis 2, autosomal recessive 11.1
16 tethered cord syndrome 11.1
17 feingold syndrome 1 11.1
18 robinow syndrome, autosomal dominant 1 11.1
19 vacterl association with hydrocephalus 11.1
20 vacterl association, x-linked, with or without hydrocephalus 11.1
21 lateral meningocele syndrome 10.9
22 acrofacial dysostosis 1, nager type 10.9
23 oculocerebrocutaneous syndrome 10.9
24 pseudoachondroplasia 10.9
25 steinfeld syndrome 10.9
26 microphthalmia with limb anomalies 10.9
27 ritscher-schinzel syndrome 1 10.9
28 feingold syndrome 2 10.9
29 anophthalmos with limb anomalies 10.9
30 ichthyosis follicularis atrichia photophobia syndrome 10.9
31 thoraco abdominal enteric duplication 10.9
32 xk aprosencephaly 10.9
33 neural tube defects, folate-sensitive 10.4
34 anus, imperforate 10.3
35 chiari malformation type ii 10.2
36 wilms tumor 6 10.2
37 pulmonary hypertension 10.2
38 hydrocephalus 10.2
39 hypothyroidism 10.2
40 atrial heart septal defect 10.2
41 chiari malformation 10.2
42 heart disease 10.2
43 polydactyly 10.1
44 trisomy 22 10.0
45 diastematomyelia 10.0
46 dwarfism 10.0
47 tracheoesophageal fistula 10.0
48 cleft palate, isolated 10.0
49 tracheoesophageal fistula with or without esophageal atresia 10.0
50 esophageal atresia 10.0

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

Symptoms via clinical synopsis from OMIM:

57
Neck:
short neck

Chest:
rib anomalies
fused ribs

Thorax:
short trunk

Resp:
respiratory infection

Spine:
hemivertebrae
vertebral fusion
block vertebrae
abnormal odontoid process

Growth:
dwarfism

Misc:
infantile death

Limbs:
normal length limbs


Clinical features from OMIM:

277300

Human phenotypes related to Spondylocostal Dysostosis 1, Autosomal Recessive:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 short neck 32 HP:0000470
2 recurrent respiratory infections 32 HP:0002205
3 disproportionate short-trunk short stature 32 HP:0003521
4 severe short stature 32 HP:0003510
5 hemivertebrae 32 HP:0002937
6 rib fusion 32 HP:0000902
7 block vertebrae 32 HP:0003305
8 abnormality of the odontoid process 32 HP:0003310

MGI Mouse Phenotypes related to Spondylocostal Dysostosis 1, Autosomal Recessive:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.72 DLL3 HES7 LFNG MESP2 PAX1
2 growth/size/body region MP:0005378 9.65 DLL3 HES7 LFNG MESP2 PAX1
3 limbs/digits/tail MP:0005371 9.55 DLL3 HES7 LFNG MESP2 PAX1
4 mortality/aging MP:0010768 9.35 DLL3 HES7 LFNG MESP2 PAX1
5 skeleton MP:0005390 9.02 DLL3 HES7 LFNG MESP2 PAX1

Drugs & Therapeutics for Spondylocostal Dysostosis 1, Autosomal Recessive

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

Genetic Tests for Spondylocostal Dysostosis 1, Autosomal Recessive

Genetic tests related to Spondylocostal Dysostosis 1, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Spondylocostal Dysostosis 1, Autosomal Recessive 29 DLL3 MESP2
2 Jarcho-Levin Syndrome 29 HES7 LFNG MESP2

Anatomical Context for Spondylocostal Dysostosis 1, Autosomal Recessive

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

41
Bone, Heart

Publications for Spondylocostal Dysostosis 1, Autosomal Recessive

Articles related to Spondylocostal Dysostosis 1, Autosomal Recessive:

(show top 50) (show all 68)
# Title Authors Year
1
Spondylocostal dysostosis (Jarcho-Levin syndrome) in an adult patient with consanguineous parents, in long-term follow-up. ( 30448585 )
2018
2
Ten year follow-up of Jarcho-Levin syndrome with thoracic insufficiency treated by VEPTR and MCGR VEPTR hybrid. ( 28608177 )
2017
3
Spondylocostal Dysostosis (Jarcho Levin Syndrome). ( 29270795 )
2017
4
Lipomeningomyelocele with Fatty Filum Terminale in a Patient with Jarcho-Levin Syndrome: A Rare Association Requiring Special Attention. ( 29675085 )
2017
5
A Single-Center Experience of CNS Anomalies or Neural Tube Defects in Patients With Jarcho-Levin Syndrome. ( 26239489 )
2016
6
Jarcho-Levin Syndrome with Splenic Herniation: A Rare Presentation. ( 27739421 )
2016
7
Anesthetic Challenges and Management in a case of Jarcho-Levin Syndrome with a Neural Tube Defect in a Newborn. ( 29164846 )
2016
8
Neurosurgical management of a large meningocele in Jarcho-Levin syndrome: clinical and radiological pearls. ( 26199296 )
2015
9
Neural Tube Defects in Jarcho-Levin Syndrome: Study of Twenty-Eight Cases. ( 25792257 )
2015
10
Anaesthetic management of a patient with Jarcho-Levin syndrome. ( 26019361 )
2015
11
Jarcho-Levin syndrome with association of unilateral pulmonary hypoplasia and diastometamyelia: A case illustration. ( 26180405 )
2015
12
Anaesthesia for infant with Jarcho Levin syndrome: case report. ( 26323743 )
2015
13
Expansion Thoracoplasty for Thoracic Insufficiency Syndrome Associated with Jarcho-Levin Syndrome. ( 30473920 )
2015
14
Jarcho-Levin syndrome: a rare syndrome presented with asymptomatic cardiac murmur. ( 24526200 )
2014
15
Lethal progressive thoracic insufficiency in a neonate due to jarcho levin syndrome. ( 24741543 )
2014
16
Management of thoracic insufficiency syndrome in patients with Jarcho-Levin syndrome using VEPTRs (vertical expandable prosthetic titanium ribs). ( 25378514 )
2014
17
Sporadic occurrence of jarcho-levin syndrome in an ivorian newborn. ( 24106627 )
2013
18
Jarcho-Levin syndrome presenting with severe hydrocephalus: a report of three cases. ( 24551977 )
2013
19
The outcome of Jarcho-Levin syndrome treated with a functional latissimus dorsi flap - A series of three cases. ( 22754151 )
2012
20
Jarcho-Levin syndrome with diastematomyelia: A case report and review of literature. ( 22408667 )
2011
21
Clinical and radiological distinction between spondylothoracic dysostosis (Lavy-Moseley syndrome) and spondylocostal dysostosis (Jarcho-Levin syndrome). ( 21174082 )
2011
22
[Jarcho-Levin syndrome associated with maternal hypothyroidism]. ( 22185858 )
2011
23
Prenatal diagnosis of Jarcho-Levin syndrome in combination with inguinoscrotal hernia. ( 19634089 )
2010
24
A case of Jarcho-Levin syndrome associated with bilateral cystic renal disease and wilms tumor: MR imaging findings. ( 19863205 )
2009
25
Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho- Levin syndrome. ( 18485326 )
2008
26
Jarcho-Levin syndrome presenting with diaphragmatic hernia. ( 18629769 )
2008
27
Prenatal diagnosis of Jarcho-Levin syndrome in the first trimester. ( 17159351 )
2007
28
Jarcho-Levin syndrome presenting as neural tube defect: report of four cases and pitfalls of diagnosis. ( 17652927 )
2007
29
Jarcho-Levin syndrome. ( 16567923 )
2006
30
Ultrasonographic diagnosis of Jarcho-Levin syndrome at 20 weeks' gestation in a fetus without previous family history. ( 15692209 )
2005
31
Anomalies of vertebrae and ribs: Jarcho Levin syndrome. Description of a case and literature review. ( 15851003 )
2005
32
Pulmonary hypoplasia in Jarcho-Levin syndrome. ( 15125221 )
2004
33
Jarcho-Levin syndrome: a case study. ( 15490911 )
2004
34
Aberrant Pax1 and Pax9 expression in Jarcho-Levin syndrome: report of two Caucasian siblings and literature review. ( 12833407 )
2003
35
Jarcho-levin syndrome associated with a complex congenital heart anomaly. ( 12574986 )
2003
36
Case report: a prenatal case of Jarcho-Levin syndrome diagnosed during the first trimester of pregnancy. ( 12575026 )
2003
37
Controversies surrounding Jarcho-Levin syndrome. ( 14631208 )
2003
38
Pulmonary hypertension in Jarcho-Levin syndrome. ( 11807909 )
2002
39
Jarcho-Levin syndrome. ( 12053050 )
2002
40
Detection of Jarcho-Levin syndrome at 12 weeks' gestation by nuchal translucency screening and three-dimensional ultrasound. ( 11360281 )
2001
41
Extraskeletical malformations in the Jarcho-Levin syndrome: postmortem study of three cases. ( 11486350 )
2001
42
Jarcho-Levin syndrome: report on a long-term follow-up of an untreated patient. ( 10218183 )
1999
43
Jarcho-Levin syndrome: two consecutive pregnancies in a Puerto Rican couple. ( 9697288 )
1998
44
Early sonographic diagnosis of Jarcho-Levin syndrome: a prospective screening program in one family. ( 9201874 )
1997
45
Jarcho-Levin syndrome: prenatal diagnosis, perinatal care, and follow-up of siblings. ( 9373850 )
1997
46
Jarcho-Levin syndrome associated with atrial septal defect and partial anomalous pulmonary venous return: a case report. ( 9395950 )
1997
47
Recurrence of spondylothoracic dysplasia (Jarcho-Levin syndrome) in a family. ( 9404912 )
1997
48
Jarcho-Levin syndrome: a new case report with unusual unexplained aortic root dilatation. ( 9419932 )
1997
49
The Jarcho-Levin syndrome (spondylocostal dysplasia) and complex congenital heart disease: a case report. ( 8723567 )
1996
50
Progressive kyphosis and neurologic compromise complicating spondylothoracic dysplasia in infancy (Jarcho-Levin syndrome). ( 8560346 )
1995

Variations for Spondylocostal Dysostosis 1, Autosomal Recessive

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

75
# Symbol AA change Variation ID SNP ID
1 DLL3 p.Gly385Asp VAR_009952 rs104894674

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

6 (show all 26)
# Gene Variation Type Significance SNP ID Assembly Location
1 DLL3 NM_016941.3(DLL3): c.599_603dupGCGGT (p.Pro202Alafs) duplication Pathogenic rs786200899 GRCh38 Chromosome 19, 39503004: 39503008
2 DLL3 NM_016941.3(DLL3): c.599_603dupGCGGT (p.Pro202Alafs) duplication Pathogenic rs786200899 GRCh37 Chromosome 19, 39993644: 39993648
3 DLL3 NM_016941.3(DLL3): c.945_946delAT (p.Ala317Argfs) deletion Pathogenic rs786200900 GRCh38 Chromosome 19, 39505303: 39505304
4 DLL3 NM_016941.3(DLL3): c.945_946delAT (p.Ala317Argfs) deletion Pathogenic rs786200900 GRCh37 Chromosome 19, 39995943: 39995944
5 DLL3 NM_016941.3(DLL3): c.1154G> A (p.Gly385Asp) single nucleotide variant Pathogenic rs104894674 GRCh37 Chromosome 19, 39997739: 39997739
6 DLL3 NM_016941.3(DLL3): c.1154G> A (p.Gly385Asp) single nucleotide variant Pathogenic rs104894674 GRCh38 Chromosome 19, 39507099: 39507099
7 DLL3 NM_016941.3(DLL3): c.1291_1307dup17 (p.Pro437Thrfs) duplication Pathogenic rs786200901 GRCh38 Chromosome 19, 39507236: 39507252
8 DLL3 NM_016941.3(DLL3): c.1291_1307dup17 (p.Pro437Thrfs) duplication Pathogenic rs786200901 GRCh37 Chromosome 19, 39997876: 39997892
9 DLL3 NM_016941.3(DLL3): c.618delC (p.Cys207Alafs) deletion Pathogenic rs786200902 GRCh38 Chromosome 19, 39503023: 39503023
10 DLL3 NM_016941.3(DLL3): c.618delC (p.Cys207Alafs) deletion Pathogenic rs786200902 GRCh37 Chromosome 19, 39993663: 39993663
11 DLL3 NM_016941.3(DLL3): c.712C> T (p.Arg238Ter) single nucleotide variant Pathogenic rs104894675 GRCh37 Chromosome 19, 39994770: 39994770
12 DLL3 NM_016941.3(DLL3): c.712C> T (p.Arg238Ter) single nucleotide variant Pathogenic rs104894675 GRCh38 Chromosome 19, 39504130: 39504130
13 DLL3 NM_016941.3(DLL3): c.1440delG (p.Pro481Argfs) deletion Pathogenic rs786200903 GRCh38 Chromosome 19, 39507385: 39507385
14 DLL3 NM_016941.3(DLL3): c.1440delG (p.Pro481Argfs) deletion Pathogenic rs786200903 GRCh37 Chromosome 19, 39998025: 39998025
15 DLL3 NM_016941.3(DLL3): c.1511G> A (p.Gly504Asp) single nucleotide variant Pathogenic rs104894676 GRCh37 Chromosome 19, 39998096: 39998096
16 DLL3 NM_016941.3(DLL3): c.1511G> A (p.Gly504Asp) single nucleotide variant Pathogenic rs104894676 GRCh38 Chromosome 19, 39507456: 39507456
17 DLL3 NM_016941.3(DLL3): c.1547G> T (p.Arg516Leu) single nucleotide variant Benign rs14635 GRCh37 Chromosome 19, 39998132: 39998132
18 DLL3 NM_016941.3(DLL3): c.1547G> T (p.Arg516Leu) single nucleotide variant Benign rs14635 GRCh38 Chromosome 19, 39507492: 39507492
19 DLL3 NM_016941.3(DLL3): c.425T> A (p.Leu142Gln) single nucleotide variant Benign/Likely benign rs55741253 GRCh37 Chromosome 19, 39993470: 39993470
20 DLL3 NM_016941.3(DLL3): c.425T> A (p.Leu142Gln) single nucleotide variant Benign/Likely benign rs55741253 GRCh38 Chromosome 19, 39502830: 39502830
21 DLL3 NM_016941.3(DLL3): c.515T> G (p.Phe172Cys) single nucleotide variant Benign rs8107127 GRCh37 Chromosome 19, 39993560: 39993560
22 DLL3 NM_016941.3(DLL3): c.515T> G (p.Phe172Cys) single nucleotide variant Benign rs8107127 GRCh38 Chromosome 19, 39502920: 39502920
23 DLL3 NM_016941.3(DLL3): c.653T> C (p.Leu218Pro) single nucleotide variant Benign rs1110627 GRCh37 Chromosome 19, 39994711: 39994711
24 DLL3 NM_016941.3(DLL3): c.653T> C (p.Leu218Pro) single nucleotide variant Benign rs1110627 GRCh38 Chromosome 19, 39504071: 39504071
25 DLL3 NM_016941.3(DLL3): c.534C> A (p.Cys178Ter) single nucleotide variant Likely pathogenic GRCh37 Chromosome 19, 39993579: 39993579
26 DLL3 NM_016941.3(DLL3): c.534C> A (p.Cys178Ter) single nucleotide variant Likely pathogenic GRCh38 Chromosome 19, 39502939: 39502939

Expression for Spondylocostal Dysostosis 1, Autosomal Recessive

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

Pathways for Spondylocostal Dysostosis 1, Autosomal Recessive

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

# Super pathways Score Top Affiliating Genes
1 11.22 DLL3 LFNG
2 9.84 HES7 LFNG MESP2

GO Terms for Spondylocostal Dysostosis 1, Autosomal Recessive

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

# Name GO ID Score Top Affiliating Genes
1 skeletal system development GO:0001501 9.54 DLL3 HES7 PAX1
2 Notch signaling pathway GO:0007219 9.5 DLL3 HES7 MESP2
3 transcription, DNA-templated GO:0006351 9.43 HES7 PAX1
4 pattern specification process GO:0007389 9.4 LFNG PAX1
5 multicellular organism development GO:0007275 9.35 DLL3 HES7 LFNG MESP2 PAX1
6 regulation of somitogenesis GO:0014807 9.26 HES7 LFNG
7 compartment pattern specification GO:0007386 9.16 DLL3 LFNG
8 somitogenesis GO:0001756 9.02 DLL3 HES7 LFNG MESP2 PAX1

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

# Name GO ID Score Top Affiliating Genes
1 protein dimerization activity GO:0046983 8.62 HES7 MESP2

Sources for Spondylocostal Dysostosis 1, Autosomal Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
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34 ICD10 via Orphanet
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