MCID: SPN081
MIFTS: 40

Spondylocostal Dysostosis, Autosomal Recessive

Categories: Bone diseases, Fetal diseases, Genetic diseases, Metabolic 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 60 30
Jarcho-Levin Syndrome 60 74
Spondylocostal Dysostosis, Autosomal Recessive 2 74
Spondylocostal Dysplasia 25
Costovertebral Dysplasia 25

Characteristics:

Orphanet epidemiological data:

60
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:



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 3, autosomal recessive and dysostosis. An important gene associated with Spondylocostal Dysostosis, Autosomal Recessive is RIPPLY2 (Ripply Transcriptional Repressor 2), and among its related pathways/superpathways are Wnt / Hedgehog / Notch and Gene regulatory network modelling somitogenesis. Affiliated tissues include heart, bone and spinal cord, 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
Spondylocostal Dysostosis 1 Spondylocostal Dysostosis 2
Spondylocostal Dysostosis 3 Spondylocostal Dysostosis 4

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

(show all 37)
# Related Disease Score Top Affiliating Genes
1 spondylocostal dysostosis 3, autosomal recessive 30.6 DLL3 HES7 LFNG MESP2 RIPPLY2
2 dysostosis 29.1 DLL3 HES7 LFNG MESP2 RIPPLY2
3 spondylocostal dysostosis 1, autosomal recessive 28.9 DLL3 HES7 LFNG MESP2
4 hydrocephalus, sprengel anomaly, and costovertebral dysplasia 12.5
5 spondylocostal dysostosis 4, autosomal recessive 11.7
6 spondylocostal dysostosis 6, autosomal recessive 11.7
7 spondylocostal dysostosis 2, autosomal recessive 11.5
8 spondylocostal dysostosis 5 11.5
9 spondylocostal dysostosis 3 11.4
10 spondylocostal dysostosis 4 11.4
11 spondylocostal dysostosis 1 11.4
12 spondylocostal dysostosis 2 11.4
13 vacterl association, x-linked, with or without hydrocephalus 11.2
14 chiari malformation type ii 10.3
15 diastematomyelia 10.3
16 wilms tumor 5 10.3
17 wilms tumor 6 10.3
18 pulmonary hypertension 10.3
19 hydrocephalus 10.3
20 meningocele 10.3
21 tethered spinal cord syndrome 10.3
22 hypothyroidism 10.3
23 atrial heart septal defect 10.3
24 chiari malformation 10.3
25 congenital hydrocephalus 10.3
26 split spinal cord malformation 10.3
27 craniometaphyseal dysplasia, autosomal dominant 10.0
28 neural tube defects 10.0
29 craniometaphyseal dysplasia, autosomal recessive 10.0
30 neural tube defects, folate-sensitive 10.0
31 heart disease 10.0
32 dwarfism 10.0
33 mesocardia 10.0
34 chromosomal triplication 10.0
35 trisomy 22 10.0
36 hajdu-cheney syndrome 9.7 DLL3 HES7
37 scoliosis 8.7 DLL3 HES7 LFNG MESP2 RIPPLY2

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:

60 33 (show all 38)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short neck 60 33 hallmark (90%) Very frequent (99-80%) HP:0000470
2 respiratory insufficiency 60 33 hallmark (90%) Very frequent (99-80%) HP:0002093
3 scoliosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0002650
4 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
5 abnormal form of the vertebral bodies 60 33 hallmark (90%) Very frequent (99-80%) HP:0003312
6 short thorax 60 33 hallmark (90%) Very frequent (99-80%) HP:0010306
7 intrauterine growth retardation 60 33 hallmark (90%) Very frequent (99-80%) HP:0001511
8 abnormality of immune system physiology 60 33 hallmark (90%) Very frequent (99-80%) HP:0010978
9 vertebral segmentation defect 60 33 hallmark (90%) Very frequent (99-80%) HP:0003422
10 rib fusion 60 33 hallmark (90%) Very frequent (99-80%) HP:0000902
11 abnormality of the intervertebral disk 60 33 hallmark (90%) Very frequent (99-80%) HP:0005108
12 rib segmentation abnormalities 60 33 hallmark (90%) Very frequent (99-80%) HP:0006655
13 kyphosis 60 33 frequent (33%) Frequent (79-30%) HP:0002808
14 macrocephaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0000256
15 finger syndactyly 60 33 occasional (7.5%) Occasional (29-5%) HP:0006101
16 intellectual disability 60 33 occasional (7.5%) Occasional (29-5%) HP:0001249
17 inguinal hernia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000023
18 depressed nasal bridge 60 33 occasional (7.5%) Occasional (29-5%) HP:0005280
19 umbilical hernia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001537
20 microcephaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0000252
21 anteverted nares 60 33 occasional (7.5%) Occasional (29-5%) HP:0000463
22 cleft palate 60 33 occasional (7.5%) Occasional (29-5%) HP:0000175
23 long philtrum 60 33 occasional (7.5%) Occasional (29-5%) HP:0000343
24 prominent occiput 60 33 occasional (7.5%) Occasional (29-5%) HP:0000269
25 cryptorchidism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000028
26 broad forehead 60 33 occasional (7.5%) Occasional (29-5%) HP:0000337
27 hypospadias 60 33 occasional (7.5%) Occasional (29-5%) HP:0000047
28 low-set, posteriorly rotated ears 60 33 occasional (7.5%) Occasional (29-5%) HP:0000368
29 meningocele 60 33 occasional (7.5%) Occasional (29-5%) HP:0002435
30 urogenital fistula 60 33 occasional (7.5%) Occasional (29-5%) HP:0100589
31 spina bifida occulta 60 33 occasional (7.5%) Occasional (29-5%) HP:0003298
32 camptodactyly of finger 60 33 occasional (7.5%) Occasional (29-5%) HP:0100490
33 abnormality of the ureter 60 33 occasional (7.5%) Occasional (29-5%) HP:0000069
34 abnormality of female internal genitalia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000008
35 congenital diaphragmatic hernia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000776
36 anomalous pulmonary venous return 60 33 occasional (7.5%) Occasional (29-5%) HP:0010772
37 malformation of the heart and great vessels 60 Occasional (29-5%)
38 abnormality of the ribs 60 Very frequent (99-80%)

MGI Mouse Phenotypes related to Spondylocostal Dysostosis, Autosomal Recessive:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.72 DLL3 HES7 LFNG MESP2 RIPPLY2
2 growth/size/body region MP:0005378 9.65 DLL3 HES7 LFNG MESP2 RIPPLY2
3 limbs/digits/tail MP:0005371 9.55 DLL3 HES7 LFNG MESP2 RIPPLY2
4 mortality/aging MP:0010768 9.35 DLL3 HES7 LFNG MESP2 RIPPLY2
5 skeleton MP:0005390 9.02 DLL3 HES7 LFNG MESP2 RIPPLY2

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 30

Anatomical Context for Spondylocostal Dysostosis, Autosomal Recessive

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

42
Heart, Bone, Spinal Cord

Publications for Spondylocostal Dysostosis, Autosomal Recessive

Articles related to Spondylocostal Dysostosis, Autosomal Recessive:

# Title Authors Year
1
Canine disorder mirrors human disease: exonic deletion in HES7 causes autosomal recessive spondylocostal dysostosis in miniature Schnauzer dogs. ( 25659135 )
2015
2
A cluster of autosomal recessive spondylocostal dysostosis caused by three newly identified DLL3 mutations segregating in a small village. ( 12791036 )
2003
3
Molecular genetic prenatal diagnosis for a case of autosomal recessive spondylocostal dysostosis. ( 12868087 )
2003
4
A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3. ( 10364530 )
1999
5
Evidence for variable gene expression in a large inbred kindred with autosomal recessive spondylocostal dysostosis. ( 1999829 )
1991

Variations for Spondylocostal Dysostosis, Autosomal Recessive

ClinVar genetic disease variations for Spondylocostal Dysostosis, Autosomal Recessive:

6 (show top 50) (show all 98)
# Gene Variation Type Significance SNP ID Assembly Location
1 MESP2 NM_001039958.2(MESP2): c.197C> G (p.Ala66Gly) single nucleotide variant Benign/Likely benign rs71647809 GRCh37 Chromosome 15, 90319785: 90319785
2 MESP2 NM_001039958.2(MESP2): c.197C> G (p.Ala66Gly) single nucleotide variant Benign/Likely benign rs71647809 GRCh38 Chromosome 15, 89776554: 89776554
3 DLL3 NM_016941.3(DLL3): c.425T> A (p.Leu142Gln) single nucleotide variant Benign/Likely benign rs55741253 GRCh37 Chromosome 19, 39993470: 39993470
4 DLL3 NM_016941.3(DLL3): c.425T> A (p.Leu142Gln) single nucleotide variant Benign/Likely benign rs55741253 GRCh38 Chromosome 19, 39502830: 39502830
5 DLL3 NM_016941.3(DLL3): c.515T> G (p.Phe172Cys) single nucleotide variant Benign rs8107127 GRCh37 Chromosome 19, 39993560: 39993560
6 DLL3 NM_016941.3(DLL3): c.515T> G (p.Phe172Cys) single nucleotide variant Benign rs8107127 GRCh38 Chromosome 19, 39502920: 39502920
7 DLL3 NM_016941.3(DLL3): c.653T> C (p.Leu218Pro) single nucleotide variant Benign rs1110627 GRCh37 Chromosome 19, 39994711: 39994711
8 DLL3 NM_016941.3(DLL3): c.653T> C (p.Leu218Pro) single nucleotide variant Benign rs1110627 GRCh38 Chromosome 19, 39504071: 39504071
9 MESP2 NM_001039958.2(MESP2): c.-11G> A single nucleotide variant Likely benign rs139599055 GRCh38 Chromosome 15, 89776347: 89776347
10 MESP2 NM_001039958.2(MESP2): c.-11G> A single nucleotide variant Likely benign rs139599055 GRCh37 Chromosome 15, 90319578: 90319578
11 MESP2 NM_001039958.2(MESP2): c.412G> A (p.Val138Met) single nucleotide variant Benign rs28462216 GRCh38 Chromosome 15, 89776769: 89776769
12 MESP2 NM_001039958.2(MESP2): c.412G> A (p.Val138Met) single nucleotide variant Benign rs28462216 GRCh37 Chromosome 15, 90320000: 90320000
13 MESP2 NM_001039958.2(MESP2): c.498C> G (p.Pro166=) single nucleotide variant Likely benign rs200336355 GRCh38 Chromosome 15, 89776855: 89776855
14 MESP2 NM_001039958.2(MESP2): c.498C> G (p.Pro166=) single nucleotide variant Likely benign rs200336355 GRCh37 Chromosome 15, 90320086: 90320086
15 MESP2 NM_001039958.2(MESP2): c.531G> A (p.Ala177=) single nucleotide variant Benign/Likely benign rs75049807 GRCh38 Chromosome 15, 89776888: 89776888
16 MESP2 NM_001039958.2(MESP2): c.531G> A (p.Ala177=) single nucleotide variant Benign/Likely benign rs75049807 GRCh37 Chromosome 15, 90320119: 90320119
17 MESP2 NM_001039958.2(MESP2): c.558G> A (p.Gln186=) single nucleotide variant Benign/Likely benign rs28546919 GRCh38 Chromosome 15, 89776915: 89776915
18 MESP2 NM_001039958.2(MESP2): c.558G> A (p.Gln186=) single nucleotide variant Benign/Likely benign rs28546919 GRCh37 Chromosome 15, 90320146: 90320146
19 MESP2 NM_001039958.2(MESP2): c.671C> T (p.Ser224Phe) single nucleotide variant Benign/Likely benign rs71647807 GRCh38 Chromosome 15, 89777028: 89777028
20 MESP2 NM_001039958.2(MESP2): c.671C> T (p.Ser224Phe) single nucleotide variant Benign/Likely benign rs71647807 GRCh37 Chromosome 15, 90320259: 90320259
21 MESP2 NM_001039958.2(MESP2): c.908T> C (p.Leu303Pro) single nucleotide variant Likely benign rs185706635 GRCh38 Chromosome 15, 89777265: 89777265
22 MESP2 NM_001039958.2(MESP2): c.908T> C (p.Leu303Pro) single nucleotide variant Likely benign rs185706635 GRCh37 Chromosome 15, 90320496: 90320496
23 DLL3 NM_016941.3(DLL3): c.546C> G (p.Ala182=) single nucleotide variant Benign rs8106337 GRCh38 Chromosome 19, 39502951: 39502951
24 DLL3 NM_016941.3(DLL3): c.546C> G (p.Ala182=) single nucleotide variant Benign rs8106337 GRCh37 Chromosome 19, 39993591: 39993591
25 DLL3 NM_016941.3(DLL3): c.1029C> T (p.Pro343=) single nucleotide variant Benign rs2304214 GRCh37 Chromosome 19, 39996027: 39996027
26 DLL3 NM_016941.3(DLL3): c.1029C> T (p.Pro343=) single nucleotide variant Benign rs2304214 GRCh38 Chromosome 19, 39505387: 39505387
27 DLL3 NM_016941.3(DLL3): c.1562C> T (p.Ser521Phe) single nucleotide variant Likely benign rs191149379 GRCh38 Chromosome 19, 39507507: 39507507
28 DLL3 NM_016941.3(DLL3): c.1562C> T (p.Ser521Phe) single nucleotide variant Likely benign rs191149379 GRCh37 Chromosome 19, 39998147: 39998147
29 DLL3 NM_016941.3(DLL3): c.1674-10C> T single nucleotide variant Benign/Likely benign rs116099821 GRCh38 Chromosome 19, 39507820: 39507820
30 DLL3 NM_016941.3(DLL3): c.1674-10C> T single nucleotide variant Benign/Likely benign rs116099821 GRCh37 Chromosome 19, 39998460: 39998460
31 MESP2 NM_001039958.1(MESP2): c.558_569delGGGGCAGGGGCA (p.Gln202_Gly205del) deletion Benign/Likely benign rs56192595 GRCh37 Chromosome 15, 90320146: 90320157
32 MESP2 NM_001039958.1(MESP2): c.558_569delGGGGCAGGGGCA (p.Gln202_Gly205del) deletion Benign/Likely benign rs56192595 GRCh38 Chromosome 15, 89776915: 89776926
33 MESP2 NM_001039958.2(MESP2): c.306C> A (p.His102Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs77473319 GRCh37 Chromosome 15, 90319894: 90319894
34 MESP2 NM_001039958.2(MESP2): c.306C> A (p.His102Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs77473319 GRCh38 Chromosome 15, 89776663: 89776663
35 DLL3 NM_016941.3(DLL3): c.1066C> T (p.Arg356Trp) single nucleotide variant Uncertain significance rs146274789 GRCh37 Chromosome 19, 39996064: 39996064
36 DLL3 NM_016941.3(DLL3): c.1066C> T (p.Arg356Trp) single nucleotide variant Uncertain significance rs146274789 GRCh38 Chromosome 19, 39505424: 39505424
37 MESP2 NM_001039958.2(MESP2): c.556C> G (p.Gln186Glu) single nucleotide variant Uncertain significance rs776642665 GRCh38 Chromosome 15, 89776913: 89776913
38 MESP2 NM_001039958.2(MESP2): c.556C> G (p.Gln186Glu) single nucleotide variant Uncertain significance rs776642665 GRCh37 Chromosome 15, 90320144: 90320144
39 MESP2 NM_001039958.2(MESP2): c.1080C> T (p.Ala360=) single nucleotide variant Uncertain significance rs762014488 GRCh37 Chromosome 15, 90321451: 90321451
40 MESP2 NM_001039958.2(MESP2): c.1080C> T (p.Ala360=) single nucleotide variant Uncertain significance rs762014488 GRCh38 Chromosome 15, 89778220: 89778220
41 MESP2 NM_001039958.2(MESP2): c.*210C> G single nucleotide variant Uncertain significance rs886051548 GRCh37 Chromosome 15, 90321775: 90321775
42 MESP2 NM_001039958.2(MESP2): c.*210C> G single nucleotide variant Uncertain significance rs886051548 GRCh38 Chromosome 15, 89778544: 89778544
43 MESP2 NM_001039958.2(MESP2): c.*107T> C single nucleotide variant Uncertain significance rs187988937 GRCh37 Chromosome 15, 90321672: 90321672
44 MESP2 NM_001039958.2(MESP2): c.*107T> C single nucleotide variant Uncertain significance rs187988937 GRCh38 Chromosome 15, 89778441: 89778441
45 MESP2 NM_001039958.2(MESP2): c.717G> C (p.Gly239=) single nucleotide variant Likely benign rs181559095 GRCh38 Chromosome 15, 89777074: 89777074
46 MESP2 NM_001039958.2(MESP2): c.717G> C (p.Gly239=) single nucleotide variant Likely benign rs181559095 GRCh37 Chromosome 15, 90320305: 90320305
47 MESP2 NM_001039958.2(MESP2): c.*132_*134dup duplication Uncertain significance rs3840032 GRCh37 Chromosome 15, 90321697: 90321699
48 MESP2 NM_001039958.2(MESP2): c.*132_*134dup duplication Uncertain significance rs3840032 GRCh38 Chromosome 15, 89778466: 89778468
49 MESP2 NM_001039958.2(MESP2): c.*326C> T single nucleotide variant Likely benign rs76163582 GRCh37 Chromosome 15, 90321891: 90321891
50 MESP2 NM_001039958.2(MESP2): c.*326C> T single nucleotide variant Likely benign rs76163582 GRCh38 Chromosome 15, 89778660: 89778660

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 11.22 DLL3 LFNG
2 9.97 HES7 LFNG MESP2 RIPPLY2

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 9.55 DLL3 HES7 LFNG MESP2 RIPPLY2
2 skeletal system development GO:0001501 9.4 DLL3 HES7
3 post-anal tail morphogenesis GO:0036342 9.37 HES7 RIPPLY2
4 regulation of somitogenesis GO:0014807 9.32 HES7 LFNG
5 compartment pattern specification GO:0007386 9.26 DLL3 LFNG
6 Notch signaling pathway GO:0007219 9.26 DLL3 HES7 MESP2 RIPPLY2
7 somitogenesis GO:0001756 9.02 DLL3 HES7 LFNG MESP2 RIPPLY2

Molecular functions related to Spondylocostal Dysostosis, 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, Autosomal Recessive

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
17 EFO
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63 PubMed
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70 SNOMED-CT via HPO
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