MCID: SPN081
MIFTS: 46

Spondylocostal Dysostosis, Autosomal Recessive

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

Aliases & Classifications for Spondylocostal Dysostosis, Autosomal Recessive

MalaCards integrated aliases for Spondylocostal Dysostosis, Autosomal Recessive:

Name: Spondylocostal Dysostosis, Autosomal Recessive 25
Autosomal Recessive Spondylocostal Dysostosis 58 29
Jarcho-Levin Syndrome 58 70
Spondylocostal Dysostosis, Autosomal Recessive 2 70
Spondylocostal Dysplasia 25
Costovertebral Dysplasia 25

Characteristics:

Orphanet epidemiological data:

58
autosomal recessive spondylocostal dysostosis
Inheritance: Autosomal recessive; Age of onset: Antenatal,Neonatal;

GeneReviews:

25
Penetrance According to current knowledge, penetrance is 100% for the pathogenic variants implicated in ar scdo types 1-4. however, further experience is required in order to confirm that reduced penetrance does not occur.

Classifications:

Orphanet: 58  
Rare bone diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis


External Ids:

MESH via Orphanet 45 C535781 C537565
ICD10 via Orphanet 33 Q76.8
UMLS via Orphanet 71 C0265343 C2931020
Orphanet 58 ORPHA2311
UMLS 70 C0265343 C1837549

Summaries for Spondylocostal Dysostosis, Autosomal Recessive

MalaCards based summary : Spondylocostal Dysostosis, Autosomal Recessive, also known as autosomal recessive spondylocostal dysostosis, is related to spondylocostal dysostosis 5 and spondylocostal dysostosis 1, autosomal recessive. An important gene associated with Spondylocostal Dysostosis, Autosomal Recessive is DLL3 (Delta Like Canonical Notch Ligand 3), and among its related pathways/superpathways are Neural Crest Differentiation and Notch Signaling Pathway (sino). Affiliated tissues include heart and thymus, and related phenotypes are scoliosis and short neck

GeneReviews: NBK8828

Related Diseases for Spondylocostal Dysostosis, 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

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

(show top 50) (show all 72)
# Related Disease Score Top Affiliating Genes
1 spondylocostal dysostosis 5 31.4 TBX6 MESP2 HES7
2 spondylocostal dysostosis 1, autosomal recessive 30.9 PLEKHG2 MESP2 LFNG HES7 DLL3
3 spondylocostal dysostosis 3, autosomal recessive 30.6 TBX6 RIPPLY2 MESP2 LFNG HES7 DLL3
4 meningocele 30.2 MESP2 HES7
5 scoliosis 28.4 TBX6 RIPPLY2 MESP2 LFNG HES7 DLL3
6 dysostosis 28.0 TBX6 RIPPLY2 PLEKHG2 MESP2 LFNG HES7
7 hydrocephalus, sprengel anomaly, and costovertebral dysplasia 11.6
8 spondylocostal dysostosis 2, autosomal recessive 11.5
9 vacterl association, x-linked, with or without hydrocephalus 11.1
10 autosomal recessive disease 10.5
11 hydrocephalus 10.4
12 vesicoureteral reflux 1 10.3
13 chiari malformation type ii 10.3
14 chiari malformation 10.3
15 torticollis 10.2
16 pulmonary hypertension 10.2
17 inguinal hernia 10.2
18 respiratory failure 10.2
19 plagiocephaly 10.2
20 diaphragmatic hernia, congenital 10.1
21 meckel diverticulum 10.1
22 osteoporosis 10.1
23 pancreas, annular 10.1
24 syringomyelia, noncommunicating isolated 10.1
25 duodenal atresia 10.1
26 bone mineral density quantitative trait locus 8 10.1
27 bone mineral density quantitative trait locus 15 10.1
28 myelomeningocele 10.1
29 intestinal atresia 10.1
30 placenta praevia 10.1
31 synostosis 10.1
32 hypothyroidism 10.1
33 atrial heart septal defect 10.1
34 glomus tumor 10.1
35 syringomyelia 10.1
36 holoprosencephaly 10.1
37 polyhydramnios 10.1
38 dextrocardia 10.1
39 skeletal dysplasias 10.1
40 back pain 10.1
41 overgrowth syndrome 10.1
42 diastematomyelia 10.1
43 dwarfism 10.1
44 hypertelorism 10.0
45 communicating hydrocephalus 10.0
46 chromosomal triplication 10.0
47 trisomy 22 10.0
48 craniometaphyseal dysplasia, autosomal dominant 9.9
49 neural tube defects 9.9
50 craniometaphyseal dysplasia, autosomal recessive 9.9

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



Diseases related to Spondylocostal Dysostosis, Autosomal Recessive

Symptoms & Phenotypes for Spondylocostal Dysostosis, Autosomal Recessive

Human phenotypes related to Spondylocostal Dysostosis, Autosomal Recessive:

58 31 (show all 39)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002650
2 short neck 58 31 hallmark (90%) Very frequent (99-80%) HP:0000470
3 respiratory insufficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0002093
4 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
5 abnormal form of the vertebral bodies 58 31 hallmark (90%) Very frequent (99-80%) HP:0003312
6 short thorax 58 31 hallmark (90%) Very frequent (99-80%) HP:0010306
7 intrauterine growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001511
8 abnormality of immune system physiology 58 31 hallmark (90%) Very frequent (99-80%) HP:0010978
9 vertebral segmentation defect 58 31 hallmark (90%) Very frequent (99-80%) HP:0003422
10 rib fusion 58 31 hallmark (90%) Very frequent (99-80%) HP:0000902
11 rib segmentation abnormalities 58 31 hallmark (90%) Very frequent (99-80%) HP:0006655
12 abnormality of the intervertebral disk 58 31 hallmark (90%) Very frequent (99-80%) HP:0005108
13 kyphosis 58 31 frequent (33%) Frequent (79-30%) HP:0002808
14 macrocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000256
15 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001249
16 depressed nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0005280
17 inguinal hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000023
18 umbilical hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001537
19 microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000252
20 anteverted nares 58 31 occasional (7.5%) Occasional (29-5%) HP:0000463
21 cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000175
22 prominent occiput 58 31 occasional (7.5%) Occasional (29-5%) HP:0000269
23 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
24 meningocele 58 31 occasional (7.5%) Occasional (29-5%) HP:0002435
25 low-set, posteriorly rotated ears 58 31 occasional (7.5%) Occasional (29-5%) HP:0000368
26 long philtrum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000343
27 urogenital fistula 58 31 occasional (7.5%) Occasional (29-5%) HP:0100589
28 hypospadias 58 31 occasional (7.5%) Occasional (29-5%) HP:0000047
29 broad forehead 58 31 occasional (7.5%) Occasional (29-5%) HP:0000337
30 spina bifida occulta 58 31 occasional (7.5%) Occasional (29-5%) HP:0003298
31 congenital diaphragmatic hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000776
32 finger syndactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0006101
33 abnormality of the ureter 58 31 occasional (7.5%) Occasional (29-5%) HP:0000069
34 camptodactyly of finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0100490
35 anomalous pulmonary venous return 58 31 occasional (7.5%) Occasional (29-5%) HP:0010772
36 abnormal morphology of female internal genitalia 31 occasional (7.5%) HP:0000008
37 malformation of the heart and great vessels 58 Occasional (29-5%)
38 abnormality of female internal genitalia 58 Occasional (29-5%)
39 abnormality of the ribs 58 Very frequent (99-80%)

MGI Mouse Phenotypes related to Spondylocostal Dysostosis, Autosomal Recessive:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.73 DLL3 HES7 LFNG MESP2 RIPPLY2 TBX6
2 growth/size/body region MP:0005378 9.63 DLL3 HES7 LFNG MESP2 RIPPLY2 TBX6
3 limbs/digits/tail MP:0005371 9.43 DLL3 HES7 LFNG MESP2 RIPPLY2 TBX6
4 skeleton MP:0005390 9.1 DLL3 HES7 LFNG MESP2 RIPPLY2 TBX6

Drugs & Therapeutics for Spondylocostal Dysostosis, Autosomal Recessive

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

Genetic Tests for Spondylocostal Dysostosis, Autosomal Recessive

Genetic tests related to Spondylocostal Dysostosis, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Autosomal Recessive Spondylocostal Dysostosis 29

Anatomical Context for Spondylocostal Dysostosis, Autosomal Recessive

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

40
Heart, Thymus

Publications for Spondylocostal Dysostosis, Autosomal Recessive

Articles related to Spondylocostal Dysostosis, Autosomal Recessive:

(show top 50) (show all 176)
# Title Authors PMID Year
1
Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome. 61 25 6
18485326 2008
2
Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects. 25 6
25343988 2015
3
Mutation of the LUNATIC FRINGE gene in humans causes spondylocostal dysostosis with a severe vertebral phenotype. 25 6
16385447 2006
4
Pseudodominant inheritance of spondylocostal dysostosis type 1 caused by two familial delta-like 3 mutations. 25 6
15200511 2004
5
Mutated MESP2 causes spondylocostal dysostosis in humans. 6 25
15122512 2004
6
A cluster of autosomal recessive spondylocostal dysostosis caused by three newly identified DLL3 mutations segregating in a small village. 6 25
12791036 2003
7
Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis. 25 6
10742114 2000
8
Spondylocostal dysostosis: an example of autosomal dominant transmission in a large family. 25 6
2805381 1989
9
Identification of novel LFNG mutations in spondylocostal dysostosis. 6
30531807 2019
10
Combined use of Neurally Adjusted Ventilatory Assist (NAVA) and Vertical Expandable Prostethic Titanium Rib (VEPTR) in a patient with Spondylocostal dysostosis and associated bronchomalacia. 61 25
28196820 2017
11
Clinical and radiological distinction between spondylothoracic dysostosis (Lavy-Moseley syndrome) and spondylocostal dysostosis (Jarcho-Levin syndrome). 25 61
21174082 2011
12
Phenotype characterization and natural history of spondylothoracic dysplasia syndrome: a series of 27 new cases. 61 25
15214000 2004
13
A new mutation in the skeletal ryanodine receptor gene (RYR1) is potentially causative of malignant hyperthermia, central core disease, and severe skeletal malformation. 6
14708096 2004
14
Pulmonary hypertension in Jarcho-Levin syndrome. 61 25
11807909 2002
15
Early sonographic diagnosis of Jarcho-Levin syndrome: a prospective screening program in one family. 25 61
9201874 1997
16
The Jarcho-Levin syndrome (spondylocostal dysplasia) and complex congenital heart disease: a case report. 61 25
8723567 1996
17
Multiple vertebral segmentation defects: analysis of 26 new patients and review of the literature. 25 61
8834041 1996
18
Jarcho-Levin syndrome: four new cases and classification of subtypes. 61 25
1951427 1991
19
Nonskeletal malformations in one of three siblings with Jarcho-Levin syndrome of vertebral anomalies. 25 61
6875723 1983
20
Autosomal recessive variations of TBX6, from congenital scoliosis to spondylocostal dysostosis. 25
27861764 2017
21
Compound Heterozygosity for Null Mutations and a Common Hypomorphic Risk Haplotype in TBX6 Causes Congenital Scoliosis. 25
28054739 2017
22
T-Box Genes in Human Development and Disease. 25
28057271 2017
23
Mutations in WNT9B are associated with Mayer-Rokitansky-Küster-Hauser syndrome. 25
26610373 2016
24
TBX6 null variants and a common hypomorphic allele in congenital scoliosis. 25
25564734 2015
25
Mutation of HES7 in a large extended family with spondylocostal dysostosis and dextrocardia with situs inversus. 25
23897666 2013
26
TBX6, LHX1 and copy number variations in the complex genetics of Müllerian aplasia. 25
23954021 2013
27
Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6. 25
23335591 2013
28
A mechanism for gene-environment interaction in the etiology of congenital scoliosis. 25
22484060 2012
29
Vertical expandable prosthetic titanium rib as treatment of thoracic insufficiency syndrome in spondylocostal dysplasia. 25
20733413 2010
30
Pilot assessment of a radiologic classification system for segmentation defects of the vertebrae. 25
20503308 2010
31
Autosomal dominant spondylocostal dysostosis in three generations of a Macedonian family: Negative mutation analysis of DLL3, MESP2, HES7, and LFNG. 25
20503311 2010
32
Two novel missense mutations in HAIRY-AND-ENHANCER-OF-SPLIT-7 in a family with spondylocostal dysostosis. 25
20087400 2010
33
Spinal anesthesia for Cesarean delivery in a parturient with spondylocostal dysostosis. 25
19247767 2009
34
Mutation of Hairy-and-Enhancer-of-Split-7 in humans causes spondylocostal dysostosis. 25
18775957 2008
35
Physical interaction between Tbx6 and mespb is indispensable for the activation of bowline expression during Xenopus somitogenesis. 25
18510946 2008
36
Segmental patterning of the vertebrate embryonic axis. 25
18414404 2008
37
Activator-to-repressor conversion of T-box transcription factors by the Ripply family of Groucho/TLE-associated mediators. 25
18332117 2008
38
Identification and functional analysis of a new WNT4 gene mutation among 28 adolescent girls with primary amenorrhea and müllerian duct abnormalities: a French collaborative study. 25
18182450 2008
39
Abnormal vertebral segmentation and the notch signaling pathway in man. 25
17497699 2007
40
A complex oscillating network of signaling genes underlies the mouse segmentation clock. 25
17095659 2006
41
Spine and rib abnormalities and stature in spondylocostal dysostosis. 25
16582839 2006
42
Groucho-associated transcriptional repressor ripply1 is required for proper transition from the presomitic mesoderm to somites. 25
16326386 2005
43
The Mesp2 transcription factor establishes segmental borders by suppressing Notch activity. 25
15902259 2005
44
WNT signaling, in synergy with T/TBX6, controls Notch signaling by regulating Dll1 expression in the presomitic mesoderm of mouse embryos. 25
15545628 2004
45
Dll3 pudgy mutation differentially disrupts dynamic expression of somite genes. 25
15170697 2004
46
Glycosylation regulates Notch signalling. 25
14570055 2003
47
Feedback loops comprising Dll1, Dll3 and Mesp2, and differential involvement of Psen1 are essential for rostrocaudal patterning of somites. 25
12900443 2003
48
Mutations in PAX1 may be associated with Klippel-Feil syndrome. 25
12774041 2003
49
Molecular genetic analysis of the glycosyltransferase Fringe in Drosophila. 25
12743367 2003
50
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. 25
12746394 2003

Variations for Spondylocostal Dysostosis, Autosomal Recessive

ClinVar genetic disease variations for Spondylocostal Dysostosis, Autosomal Recessive:

6 (show top 50) (show all 205)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MESP2 NM_001039958.2(MESP2):c.500_503dup (p.Gly169fs) Duplication Pathogenic 5183 rs113994158 GRCh37: 15:90320084-90320085
GRCh38: 15:89776853-89776854
2 MESP2 NM_001039958.2(MESP2):c.373C>G (p.Leu125Val) SNV Pathogenic 5185 rs71647806 GRCh37: 15:90319961-90319961
GRCh38: 15:89776730-89776730
3 MESP2 NM_001039958.2(MESP2):c.700G>T (p.Glu234Ter) SNV Pathogenic 5186 rs118204035 GRCh37: 15:90320288-90320288
GRCh38: 15:89777057-89777057
4 DLL3 NM_203486.3(DLL3):c.945_946del (p.Ala317fs) Deletion Pathogenic 6829 rs786200900 GRCh37: 19:39995943-39995944
GRCh38: 19:39505303-39505304
5 DLL3 NM_203486.3(DLL3):c.1154G>A (p.Gly385Asp) SNV Pathogenic 6830 rs104894674 GRCh37: 19:39997739-39997739
GRCh38: 19:39507099-39507099
6 DLL3 NM_203486.3(DLL3):c.1291_1307dup (p.Pro437fs) Duplication Pathogenic 6831 rs777791545 GRCh37: 19:39997869-39997870
GRCh38: 19:39507229-39507230
7 DLL3 NM_203486.3(DLL3):c.712C>T (p.Arg238Ter) SNV Pathogenic 6833 rs104894675 GRCh37: 19:39994770-39994770
GRCh38: 19:39504130-39504130
8 DLL3 NM_203486.3(DLL3):c.1440del (p.Pro481fs) Deletion Pathogenic 6834 rs786200903 GRCh37: 19:39998025-39998025
GRCh38: 19:39507385-39507385
9 LFNG NM_001040167.2(LFNG):c.564C>A (p.Phe188Leu) SNV Pathogenic 6999 rs104894024 GRCh37: 7:2564935-2564935
GRCh38: 7:2525301-2525301
10 MESP2 NM_001039958.2(MESP2):c.271A>G (p.Lys91Glu) SNV Pathogenic 38908 rs113994156 GRCh37: 15:90319859-90319859
GRCh38: 15:89776628-89776628
11 MESP2 NM_001039958.2(MESP2):c.385A>T (p.Ile129Phe) SNV Pathogenic 38909 rs113994157 GRCh37: 15:90319973-90319973
GRCh38: 15:89776742-89776742
12 RIPPLY2 NM_001009994.2(RIPPLY2):c.240-4T>G SNV Pathogenic 221272 rs370933531 GRCh37: 6:84566957-84566957
GRCh38: 6:83857238-83857238
13 RIPPLY2 NM_001009994.2(RIPPLY2):c.238A>T (p.Arg80Ter) SNV Pathogenic 221271 rs201419367 GRCh37: 6:84563879-84563879
GRCh38: 6:83854160-83854160
14 HES7 NM_001165967.2(HES7):c.73C>T (p.Arg25Trp) SNV Pathogenic 30696 rs113994160 GRCh37: 17:8026414-8026414
GRCh38: 17:8123096-8123096
15 LFNG NM_001040167.2(LFNG):c.601G>A (p.Asp201Asn) SNV Pathogenic 619139 rs1211456697 GRCh37: 7:2565067-2565067
GRCh38: 7:2525433-2525433
16 LFNG NM_001040167.2(LFNG):c.372del (p.Lys124fs) Deletion Pathogenic 619140 rs1562551396 GRCh37: 7:2559867-2559867
GRCh38: 7:2520233-2520233
17 MESP2 NM_001039958.2(MESP2):c.307G>T (p.Glu103Ter) SNV Pathogenic 5184 rs71647808 GRCh37: 15:90319895-90319895
GRCh38: 15:89776664-89776664
18 DLL3 NM_203486.3(DLL3):c.1511G>A (p.Gly504Asp) SNV Pathogenic 6835 rs104894676 GRCh37: 19:39998096-39998096
GRCh38: 19:39507456-39507456
19 PLEKHG2 , DLL3 NM_203486.3(DLL3):c.594_598GCGGT[3] (p.Pro202fs) Microsatellite Pathogenic 6828 rs786200899 GRCh37: 19:39993644-39993648
GRCh38: 19:39502998-39502999
20 DLL3 NM_203486.3(DLL3):c.618del (p.Cys207fs) Deletion Pathogenic 6832 rs786200902 GRCh37: 19:39993660-39993660
GRCh38: 19:39503020-39503020
21 DLL3 NM_203486.3(DLL3):c.472_479dup (p.Asp161fs) Duplication Pathogenic 1031978 GRCh37: 19:39993510-39993511
GRCh38: 19:39502870-39502871
22 RIPPLY2 NM_001009994.2(RIPPLY2):c.2T>C (p.Met1Thr) SNV Pathogenic 1034360 GRCh37: 6:84563137-84563137
GRCh38: 6:83853418-83853418
23 DLL3 NM_203486.3(DLL3):c.1136G>A (p.Cys379Tyr) SNV Pathogenic 191104 rs786205519 GRCh37: 19:39997721-39997721
GRCh38: 19:39507081-39507081
24 HES7 NM_001165967.2(HES7):c.86A>G (p.Asn29Ser) SNV Likely pathogenic 559880 rs1332109041 GRCh37: 17:8026401-8026401
GRCh38: 17:8123083-8123083
25 DLL3 NM_203486.3(DLL3):c.534C>A (p.Cys178Ter) SNV Likely pathogenic 559885 rs1447189148 GRCh37: 19:39993579-39993579
GRCh38: 19:39502939-39502939
26 MESP2 NM_001039958.2(MESP2):c.586C>T (p.Gln196Ter) SNV Likely pathogenic 556996 rs1555439118 GRCh37: 15:90320174-90320174
GRCh38: 15:89776943-89776943
27 MESP2 NM_001039958.2(MESP2):c.343_344dup (p.Gly116fs) Duplication Likely pathogenic 557032 rs1555439061 GRCh37: 15:90319930-90319931
GRCh38: 15:89776699-89776700
28 MESP2 NM_001039958.2(MESP2):c.250C>T (p.Gln84Ter) SNV Likely pathogenic 557334 rs762067626 GRCh37: 15:90319838-90319838
GRCh38: 15:89776607-89776607
29 MESP2 NM_001039958.2(MESP2):c.737G>A (p.Trp246Ter) SNV Likely pathogenic 554365 rs1555439152 GRCh37: 15:90320325-90320325
GRCh38: 15:89777094-89777094
30 MESP2 NM_001039958.2(MESP2):c.249_256dup (p.Ala86fs) Duplication Likely pathogenic 557590 rs1555439049 GRCh37: 15:90319832-90319833
GRCh38: 15:89776601-89776602
31 MESP2 NM_001039958.2(MESP2):c.241G>T (p.Gly81Ter) SNV Likely pathogenic 38907 rs118204034 GRCh37: 15:90319829-90319829
GRCh38: 15:89776598-89776598
32 MESP2 NM_001039958.2(MESP2):c.229G>T (p.Gly77Ter) SNV Likely pathogenic 551110 rs538996447 GRCh37: 15:90319817-90319817
GRCh38: 15:89776586-89776586
33 MESP2 NM_001039958.2(MESP2):c.349C>T (p.Gln117Ter) SNV Likely pathogenic 551651 rs1555439063 GRCh37: 15:90319937-90319937
GRCh38: 15:89776706-89776706
34 MESP2 NM_001039958.2(MESP2):c.48G>A (p.Trp16Ter) SNV Likely pathogenic 552595 rs912110093 GRCh37: 15:90319636-90319636
GRCh38: 15:89776405-89776405
35 MESP2 NM_001039958.2(MESP2):c.11C>A (p.Ser4Ter) SNV Likely pathogenic 554878 rs1555439013 GRCh37: 15:90319599-90319599
GRCh38: 15:89776368-89776368
36 MESP2 NM_001039958.2(MESP2):c.258_261del (p.Glu88fs) Deletion Likely pathogenic 555370 rs1452984345 GRCh37: 15:90319844-90319847
GRCh38: 15:89776613-89776616
37 MESP2 NM_001039958.2(MESP2):c.116C>A (p.Ser39Ter) SNV Likely pathogenic 555826 rs1206731716 GRCh37: 15:90319704-90319704
GRCh38: 15:89776473-89776473
38 MESP2 NM_001039958.2(MESP2):c.957G>A (p.Ser319=) SNV Conflicting interpretations of pathogenicity 257250 rs752665246 GRCh37: 15:90321328-90321328
GRCh38: 15:89778097-89778097
39 DLL3 NM_203486.3(DLL3):c.352-15C>T SNV Conflicting interpretations of pathogenicity 811612 rs201902809 GRCh37: 19:39991240-39991240
GRCh38: 19:39500600-39500600
40 DLL3 NM_203486.3(DLL3):c.677C>G (p.Pro226Arg) SNV Conflicting interpretations of pathogenicity 286841 rs145191532 GRCh37: 19:39994735-39994735
GRCh38: 19:39504095-39504095
41 DLL3 NM_203486.3(DLL3):c.409+6T>C SNV Uncertain significance 994083 GRCh37: 19:39991318-39991318
GRCh38: 19:39500678-39500678
42 DLL3 NM_203486.3(DLL3):c.1759-31C>G SNV Uncertain significance 892623 GRCh37: 19:39998861-39998861
GRCh38: 19:39508221-39508221
43 DLL3 NM_203486.3(DLL3):c.1187C>T (p.Ala396Val) SNV Uncertain significance 811836 rs747708804 GRCh37: 19:39997772-39997772
GRCh38: 19:39507132-39507132
44 MESP2 NM_001039958.2(MESP2):c.*229T>C SNV Uncertain significance 887588 GRCh37: 15:90321794-90321794
GRCh38: 15:89778563-89778563
45 MESP2 NM_001039958.2(MESP2):c.*318G>A SNV Uncertain significance 887589 GRCh37: 15:90321883-90321883
GRCh38: 15:89778652-89778652
46 DLL3 NM_203486.3(DLL3):c.969C>T (p.Asn323=) SNV Uncertain significance 892563 GRCh37: 19:39995967-39995967
GRCh38: 19:39505327-39505327
47 DLL3 NM_203486.3(DLL3):c.984C>T (p.Val328=) SNV Uncertain significance 892564 GRCh37: 19:39995982-39995982
GRCh38: 19:39505342-39505342
48 DLL3 NM_203486.3(DLL3):c.1362T>C (p.Ala454=) SNV Uncertain significance 892589 GRCh37: 19:39997947-39997947
GRCh38: 19:39507307-39507307
49 DLL3 NM_203486.3(DLL3):c.1378A>G (p.Met460Val) SNV Uncertain significance 892590 GRCh37: 19:39997963-39997963
GRCh38: 19:39507323-39507323
50 DLL3 NM_203486.3(DLL3):c.100A>T (p.Ile34Phe) SNV Uncertain significance 893094 GRCh37: 19:39989862-39989862
GRCh38: 19:39499222-39499222

Expression for Spondylocostal Dysostosis, Autosomal Recessive

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

Pathways for Spondylocostal Dysostosis, Autosomal Recessive

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

# Super pathways Score Top Affiliating Genes
1 11.16 TBX6 DLL3
2 10.73 LFNG HES7
3 10.06 TBX6 RIPPLY2 MESP2 LFNG HES7

GO Terms for Spondylocostal Dysostosis, Autosomal Recessive

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

# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.73 TBX6 RIPPLY2 MESP2 LFNG HES7 DLL3
2 Notch signaling pathway GO:0007219 9.46 RIPPLY2 MESP2 HES7 DLL3
3 skeletal system development GO:0001501 9.43 HES7 DLL3
4 mesoderm development GO:0007498 9.4 TBX6 HES7
5 mesoderm formation GO:0001707 9.37 TBX6 MESP2
6 post-anal tail morphogenesis GO:0036342 9.32 RIPPLY2 HES7
7 somite rostral/caudal axis specification GO:0032525 9.13 TBX6 RIPPLY2 MESP2
8 somitogenesis GO:0001756 8.92 RIPPLY2 LFNG HES7 DLL3

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

# Name GO ID Score Top Affiliating Genes
1 sequence-specific double-stranded DNA binding GO:1990837 8.8 TBX6 MESP2 HES7

Sources for Spondylocostal Dysostosis, Autosomal Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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