MCID: SPN081
MIFTS: 45

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 24
Autosomal Recessive Spondylocostal Dysostosis 58 29
Jarcho-Levin Syndrome 58 71
Spondylocostal Dysostosis, Autosomal Recessive 2 71
Spondylocostal Dysplasia 24
Costovertebral Dysplasia 24

Characteristics:

Orphanet epidemiological data:

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

GeneReviews:

24
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 44 C535781 C537565
ICD10 via Orphanet 33 Q76.8
UMLS via Orphanet 72 C0265343 C2931020
Orphanet 58 ORPHA2311
UMLS 71 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 1, autosomal recessive and spondylocostal dysostosis 3, 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 Wnt / Hedgehog / Notch and Neural Crest Differentiation. Affiliated tissues include heart, bone and thymus, and related phenotypes are short neck and respiratory insufficiency

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 73)
# Related Disease Score Top Affiliating Genes
1 spondylocostal dysostosis 1, autosomal recessive 31.5 MESP2 LFNG HES7 DLL3
2 spondylocostal dysostosis 3, autosomal recessive 30.4 TBX6 RIPPLY2 MESP2 LFNG HES7 DLL3
3 spondylocostal dysostosis 5 30.0 TBX6 HES7
4 meningocele 29.6 MESP2 HES7
5 dysostosis 27.6 TBX6 RIPPLY2 MESP2 LFNG HES7 DLL3
6 scoliosis 27.6 TBX6 RIPPLY2 MESP2 LFNG HES7 DLL3
7 hydrocephalus, sprengel anomaly, and costovertebral dysplasia 12.7
8 spondylocostal dysostosis 2, autosomal recessive 12.0
9 vacterl association, x-linked, with or without hydrocephalus 11.3
10 autosomal recessive disease 10.6
11 hydrocephalus 10.6
12 syringomyelia, noncommunicating isolated 10.4
13 vesicoureteral reflux 1 10.4
14 chiari malformation type ii 10.4
15 syringomyelia 10.4
16 lung disease 10.4
17 chiari malformation 10.4
18 diaphragmatic hernia, congenital 10.3
19 meckel diverticulum 10.3
20 osteoporosis 10.3
21 pancreas, annular 10.3
22 anus, imperforate 10.3
23 duodenal atresia 10.3
24 wilms tumor 5 10.3
25 bone mineral density quantitative trait locus 8 10.3
26 bone mineral density quantitative trait locus 15 10.3
27 myelomeningocele 10.3
28 intestinal atresia 10.3
29 placenta praevia 10.3
30 synostosis 10.3
31 hypothyroidism 10.3
32 atrial heart septal defect 10.3
33 glomus tumor 10.3
34 holoprosencephaly 10.3
35 polyhydramnios 10.3
36 dextrocardia 10.3
37 skeletal dysplasias 10.3
38 back pain 10.3
39 overgrowth syndrome 10.3
40 torticollis 10.3
41 spondylocostal dysostosis 4, autosomal recessive 10.3
42 spondylocostal dysostosis 6, autosomal recessive 10.3
43 pulmonary hypertension 10.3
44 inguinal hernia 10.3
45 respiratory failure 10.3
46 plagiocephaly 10.3
47 diastematomyelia 10.2
48 dwarfism 10.2
49 hypertelorism 10.1
50 communicating hydrocephalus 10.1

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

MGI Mouse Phenotypes related to Spondylocostal Dysostosis, Autosomal Recessive:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.8 DLL3 HES7 LFNG MESP2 RIPPLY2 TBX6
2 growth/size/body region MP:0005378 9.73 DLL3 HES7 LFNG MESP2 RIPPLY2 TBX6
3 limbs/digits/tail MP:0005371 9.63 DLL3 HES7 LFNG MESP2 RIPPLY2 TBX6
4 mortality/aging MP:0010768 9.43 DLL3 HES7 LFNG MESP2 RIPPLY2 TBX6
5 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, Bone, Thymus, Kidney

Publications for Spondylocostal Dysostosis, Autosomal Recessive

Articles related to Spondylocostal Dysostosis, Autosomal Recessive:

(show top 50) (show all 172)
# Title Authors PMID Year
1
Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome. 61 24 6
18485326 2008
2
Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects. 6 24
25343988 2015
3
Mutation of the LUNATIC FRINGE gene in humans causes spondylocostal dysostosis with a severe vertebral phenotype. 24 6
16385447 2006
4
Pseudodominant inheritance of spondylocostal dysostosis type 1 caused by two familial delta-like 3 mutations. 24 6
15200511 2004
5
Mutated MESP2 causes spondylocostal dysostosis in humans. 6 24
15122512 2004
6
A cluster of autosomal recessive spondylocostal dysostosis caused by three newly identified DLL3 mutations segregating in a small village. 24 6
12791036 2003
7
Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis. 24 6
10742114 2000
8
Spondylocostal dysostosis: an example of autosomal dominant transmission in a large family. 24 6
2805381 1989
9
Spondylocostal Dysostosis, Autosomal Recessive 61 6
20301771 2009
10
Identification of novel LFNG mutations in spondylocostal dysostosis. 6
30531807 2019
11
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 24
28196820 2017
12
Clinical and radiological distinction between spondylothoracic dysostosis (Lavy-Moseley syndrome) and spondylocostal dysostosis (Jarcho-Levin syndrome). 24 61
21174082 2011
13
Phenotype characterization and natural history of spondylothoracic dysplasia syndrome: a series of 27 new cases. 24 61
15214000 2004
14
Pulmonary hypertension in Jarcho-Levin syndrome. 24 61
11807909 2002
15
Early sonographic diagnosis of Jarcho-Levin syndrome: a prospective screening program in one family. 61 24
9201874 1997
16
The Jarcho-Levin syndrome (spondylocostal dysplasia) and complex congenital heart disease: a case report. 24 61
8723567 1996
17
Multiple vertebral segmentation defects: analysis of 26 new patients and review of the literature. 24 61
8834041 1996
18
Jarcho-Levin syndrome: four new cases and classification of subtypes. 61 24
1951427 1991
19
Nonskeletal malformations in one of three siblings with Jarcho-Levin syndrome of vertebral anomalies. 24 61
6875723 1983
20
Autosomal recessive variations of TBX6, from congenital scoliosis to spondylocostal dysostosis. 24
27861764 2017
21
Compound Heterozygosity for Null Mutations and a Common Hypomorphic Risk Haplotype in TBX6 Causes Congenital Scoliosis. 24
28054739 2017
22
T-Box Genes in Human Development and Disease. 24
28057271 2017
23
Mutations in WNT9B are associated with Mayer-Rokitansky-Küster-Hauser syndrome. 24
26610373 2016
24
TBX6 null variants and a common hypomorphic allele in congenital scoliosis. 24
25564734 2015
25
Mutation of HES7 in a large extended family with spondylocostal dysostosis and dextrocardia with situs inversus. 24
23897666 2013
26
TBX6, LHX1 and copy number variations in the complex genetics of Müllerian aplasia. 24
23954021 2013
27
Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6. 24
23335591 2013
28
A mechanism for gene-environment interaction in the etiology of congenital scoliosis. 24
22484060 2012
29
Vertical expandable prosthetic titanium rib as treatment of thoracic insufficiency syndrome in spondylocostal dysplasia. 24
20733413 2010
30
Pilot assessment of a radiologic classification system for segmentation defects of the vertebrae. 24
20503308 2010
31
Autosomal dominant spondylocostal dysostosis in three generations of a Macedonian family: Negative mutation analysis of DLL3, MESP2, HES7, and LFNG. 24
20503311 2010
32
Two novel missense mutations in HAIRY-AND-ENHANCER-OF-SPLIT-7 in a family with spondylocostal dysostosis. 24
20087400 2010
33
Spinal anesthesia for Cesarean delivery in a parturient with spondylocostal dysostosis. 24
19247767 2009
34
Mutation of Hairy-and-Enhancer-of-Split-7 in humans causes spondylocostal dysostosis. 24
18775957 2008
35
Physical interaction between Tbx6 and mespb is indispensable for the activation of bowline expression during Xenopus somitogenesis. 24
18510946 2008
36
Activator-to-repressor conversion of T-box transcription factors by the Ripply family of Groucho/TLE-associated mediators. 24
18332117 2008
37
Segmental patterning of the vertebrate embryonic axis. 24
18414404 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. 24
18182450 2008
39
Abnormal vertebral segmentation and the notch signaling pathway in man. 24
17497699 2007
40
A complex oscillating network of signaling genes underlies the mouse segmentation clock. 24
17095659 2006
41
Spine and rib abnormalities and stature in spondylocostal dysostosis. 24
16582839 2006
42
Groucho-associated transcriptional repressor ripply1 is required for proper transition from the presomitic mesoderm to somites. 24
16326386 2005
43
The Mesp2 transcription factor establishes segmental borders by suppressing Notch activity. 24
15902259 2005
44
WNT signaling, in synergy with T/TBX6, controls Notch signaling by regulating Dll1 expression in the presomitic mesoderm of mouse embryos. 24
15545628 2004
45
Dll3 pudgy mutation differentially disrupts dynamic expression of somite genes. 24
15170697 2004
46
Glycosylation regulates Notch signalling. 24
14570055 2003
47
Feedback loops comprising Dll1, Dll3 and Mesp2, and differential involvement of Psen1 are essential for rostrocaudal patterning of somites. 24
12900443 2003
48
Mutations in PAX1 may be associated with Klippel-Feil syndrome. 24
12774041 2003
49
Molecular genetic analysis of the glycosyltransferase Fringe in Drosophila. 24
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. 24
12746394 2003

Variations for Spondylocostal Dysostosis, Autosomal Recessive

ClinVar genetic disease variations for Spondylocostal Dysostosis, Autosomal Recessive:

6 (show all 49) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MESP2 NM_001039958.2(MESP2):c.306C>A (p.His102Gln)SNV Conflicting interpretations of pathogenicity 284850 rs77473319 15:90319894-90319894 15:89776663-89776663
2 MESP2 NM_001039958.2(MESP2):c.573G>A (p.Gly191=)SNV Conflicting interpretations of pathogenicity 317389 rs113097169 15:90320161-90320161 15:89776930-89776930
3 DLL3 NM_016941.4(DLL3):c.1356C>T (p.Val452=)SNV Conflicting interpretations of pathogenicity 329238 rs554268445 19:39997941-39997941 19:39507301-39507301
4 DLL3 NM_016941.4(DLL3):c.*186A>GSNV Uncertain significance 329242 rs762786941 19:39998839-39998839 19:39508199-39508199
5 DLL3 NM_016941.4(DLL3):c.1383A>C (p.Gly461=)SNV Uncertain significance 329239 rs886054433 19:39997968-39997968 19:39507328-39507328
6 DLL3 NM_016941.4(DLL3):c.1778C>G (p.Pro593Arg)SNV Uncertain significance 329240 rs778339882 19:39998574-39998574 19:39507934-39507934
7 DLL3 NM_016941.4(DLL3):c.779C>A (p.Pro260His)SNV Uncertain significance 329234 rs748649010 19:39994837-39994837 19:39504197-39504197
8 MESP2 NM_001039958.2(MESP2):c.585A>G (p.Gly195=)SNV Uncertain significance 317390 rs113636330 15:90320173-90320173 15:89776942-89776942
9 MESP2 NM_001039958.2(MESP2):c.597A>G (p.Gly199=)SNV Uncertain significance 317391 rs778503063 15:90320185-90320185 15:89776954-89776954
10 MESP2 NM_001039958.2(MESP2):c.602G>A (p.Gly201Glu)SNV Uncertain significance 317392 rs377023417 15:90320190-90320190 15:89776959-89776959
11 MESP2 NM_001039958.2(MESP2):c.791G>A (p.Gly264Glu)SNV Uncertain significance 317394 rs886051546 15:90320379-90320379 15:89777148-89777148
12 MESP2 NM_001039958.2(MESP2):c.*101G>CSNV Uncertain significance 317396 rs761831896 15:90321666-90321666 15:89778435-89778435
13 MESP2 NM_001039958.2(MESP2):c.*182C>TSNV Uncertain significance 317399 rs553766281 15:90321747-90321747 15:89778516-89778516
14 DLL3 NM_016941.4(DLL3):c.620G>A (p.Cys207Tyr)SNV Uncertain significance 329233 rs886054432 19:39993665-39993665 19:39503025-39503025
15 DLL3 NM_016941.4(DLL3):c.939G>A (p.Gly313=)SNV Uncertain significance 329235 rs150100958 19:39995937-39995937 19:39505297-39505297
16 DLL3 NM_016941.4(DLL3):c.*77A>GSNV Uncertain significance 329241 rs886054434 19:39998730-39998730 19:39508090-39508090
17 DLL3 NM_016941.4(DLL3):c.-12dupduplication Uncertain significance 329230 rs747003629 19:39989603-39989603 19:39498963-39498963
18 DLL3 NM_016941.4(DLL3):c.452G>A (p.Arg151His)SNV Uncertain significance 329231 rs768310008 19:39993497-39993497 19:39502857-39502857
19 MESP2 NM_001039958.2(MESP2):c.*132_*134dupduplication Uncertain significance 317398 rs3840032 15:90321697-90321699 15:89778466-89778468
20 MESP2 NM_001039958.2(MESP2):c.185G>A (p.Arg62Gln)SNV Uncertain significance 317385 rs566641514 15:90319773-90319773 15:89776542-89776542
21 MESP2 NM_001039958.2(MESP2):c.554G>C (p.Gly185Ala)SNV Uncertain significance 317386 rs764078106 15:90320142-90320142 15:89776911-89776911
22 MESP2 NM_001039958.2(MESP2):c.561G>A (p.Gly187=)SNV Uncertain significance 317388 rs767474985 15:90320149-90320149 15:89776918-89776918
23 DLL3 NM_016941.4(DLL3):c.1030G>C (p.Gly344Arg)SNV Uncertain significance 329236 rs530857183 19:39996028-39996028 19:39505388-39505388
24 DLL3 NM_016941.4(DLL3):c.1066C>T (p.Arg356Trp)SNV Uncertain significance 289692 rs146274789 19:39996064-39996064 19:39505424-39505424
25 MESP2 NM_001039958.2(MESP2):c.556C>G (p.Gln186Glu)SNV Uncertain significance 317387 rs776642665 15:90320144-90320144 15:89776913-89776913
26 MESP2 NM_001039958.2(MESP2):c.1080C>T (p.Ala360=)SNV Uncertain significance 317395 rs762014488 15:90321451-90321451 15:89778220-89778220
27 MESP2 NM_001039958.2(MESP2):c.*210C>GSNV Uncertain significance 317400 rs886051548 15:90321775-90321775 15:89778544-89778544
28 MESP2 NM_001039958.2(MESP2):c.*107T>CSNV Uncertain significance 317397 rs187988937 15:90321672-90321672 15:89778441-89778441
29 MESP2 NM_001039958.2(MESP2):c.717G>C (p.Gly239=)SNV Likely benign 317393 rs181559095 15:90320305-90320305 15:89777074-89777074
30 MESP2 NM_001039958.2(MESP2):c.-11G>ASNV Likely benign 257238 rs139599055 15:90319578-90319578 15:89776347-89776347
31 MESP2 NM_001039958.2(MESP2):c.908T>C (p.Leu303Pro)SNV Likely benign 257249 rs185706635 15:90320496-90320496 15:89777265-89777265
32 MESP2 NM_001039958.2(MESP2):c.498C>G (p.Pro166=)SNV Likely benign 257240 rs200336355 15:90320086-90320086 15:89776855-89776855
33 MESP2 NM_001039958.2(MESP2):c.*326C>TSNV Likely benign 317401 rs76163582 15:90321891-90321891 15:89778660-89778660
34 DLL3 NM_016941.4(DLL3):c.1562C>T (p.Ser521Phe)SNV Likely benign 260776 rs191149379 19:39998147-39998147 19:39507507-39507507
35 DLL3 NM_016941.4(DLL3):c.618C>T (p.Pro206=)SNV Likely benign 329232 rs192624990 19:39993663-39993663 19:39503023-39503023
36 DLL3 NM_016941.4(DLL3):c.1674-10C>TSNV Benign/Likely benign 260777 rs116099821 19:39998460-39998460 19:39507820-39507820
37 MESP2 NM_001039958.2(MESP2):c.552_557GGGGCA[1] (p.180_181QG[11])short repeat Benign/Likely benign 281200 rs56192595 15:90320146-90320157 15:89776915-89776926
38 DLL3 NM_016941.4(DLL3):c.1143C>T (p.Ala381=)SNV Benign/Likely benign 329237 rs367573123 19:39997728-39997728 19:39507088-39507088
39 MESP2 NM_001039958.2(MESP2):c.531G>A (p.Ala177=)SNV Benign/Likely benign 257241 rs75049807 15:90320119-90320119 15:89776888-89776888
40 MESP2 NM_001039958.2(MESP2):c.558G>A (p.Gln186=)SNV Benign/Likely benign 257243 rs28546919 15:90320146-90320146 15:89776915-89776915
41 MESP2 NM_001039958.2(MESP2):c.671C>T (p.Ser224Phe)SNV Benign/Likely benign 257247 rs71647807 15:90320259-90320259 15:89777028-89777028
42 MESP2 NM_001039958.2(MESP2):c.197C>G (p.Ala66Gly)SNV Benign/Likely benign 38906 rs71647809 15:90319785-90319785 15:89776554-89776554
43 DLL3 NM_016941.4(DLL3):c.425T>A (p.Leu142Gln)SNV Benign/Likely benign 41377 rs55741253 19:39993470-39993470 19:39502830-39502830
44 DLL3 NM_016941.4(DLL3):c.515T>G (p.Phe172Cys)SNV Benign 41378 rs8107127 19:39993560-39993560 19:39502920-39502920
45 DLL3 NM_016941.4(DLL3):c.653T>C (p.Leu218Pro)SNV Benign 41379 rs1110627 19:39994711-39994711 19:39504071-39504071
46 DLL3 NM_016941.4(DLL3):c.546C>G (p.Ala182=)SNV Benign 260780 rs8106337 19:39993591-39993591 19:39502951-39502951
47 DLL3 NM_016941.4(DLL3):c.1029C>T (p.Pro343=)SNV Benign 260772 rs2304214 19:39996027-39996027 19:39505387-39505387
48 MESP2 NM_001039958.2(MESP2):c.412G>A (p.Val138Met)SNV Benign 257239 rs28462216 15:90320000-90320000 15:89776769-89776769
49 MESP2 NM_001039958.2(MESP2):c.*431C>TSNV Benign 369104 rs11073889 15:90321996-90321996 15:89778765-89778765

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 11.42 LFNG DLL3
2 10.96 TBX6 DLL3
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 negative regulation of transcription by RNA polymerase II GO:0000122 9.65 TBX6 RIPPLY2 HES7
2 multicellular organism development GO:0007275 9.63 TBX6 RIPPLY2 MESP2 LFNG HES7 DLL3
3 skeletal system development GO:0001501 9.46 HES7 DLL3
4 mesoderm formation GO:0001707 9.43 TBX6 MESP2
5 mesoderm development GO:0007498 9.4 TBX6 HES7
6 post-anal tail morphogenesis GO:0036342 9.37 RIPPLY2 HES7
7 somite rostral/caudal axis specification GO:0032525 9.32 TBX6 RIPPLY2
8 compartment pattern specification GO:0007386 9.26 LFNG DLL3
9 Notch signaling pathway GO:0007219 9.26 RIPPLY2 MESP2 HES7 DLL3
10 somitogenesis GO:0001756 9.02 RIPPLY2 MESP2 LFNG HES7 DLL3

Sources for Spondylocostal Dysostosis, Autosomal Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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