MCID: SPN081
MIFTS: 39

Spondylocostal Dysostosis, Autosomal Recessive

Categories: Bone diseases, Metabolic diseases, Fetal diseases, Rare diseases, Genetic 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 59 29
Jarcho-Levin Syndrome 59 73
Spondylocostal Dysostosis, Autosomal Recessive 2 73
Spondylocostal Dysplasia 24
Costovertebral Dysplasia 24

Characteristics:

Orphanet epidemiological data:

59
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:



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 spondylocostal dysostosis 1, autosomal recessive. 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 and bone, and related phenotypes are abnormality of female internal genitalia and inguinal hernia

GeneReviews: NBK8828

Related Diseases for Spondylocostal Dysostosis, Autosomal Recessive

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:

59 32 (show all 38)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of female internal genitalia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000008
2 inguinal hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000023
3 cryptorchidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000028
4 hypospadias 59 32 occasional (7.5%) Occasional (29-5%) HP:0000047
5 abnormality of the ureter 59 32 occasional (7.5%) Occasional (29-5%) HP:0000069
6 cleft palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000175
7 microcephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000252
8 macrocephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000256
9 prominent occiput 59 32 occasional (7.5%) Occasional (29-5%) HP:0000269
10 broad forehead 59 32 occasional (7.5%) Occasional (29-5%) HP:0000337
11 long philtrum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000343
12 low-set, posteriorly rotated ears 59 32 occasional (7.5%) Occasional (29-5%) HP:0000368
13 anteverted nares 59 32 occasional (7.5%) Occasional (29-5%) HP:0000463
14 short neck 59 32 hallmark (90%) Very frequent (99-80%) HP:0000470
15 congenital diaphragmatic hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000776
16 rib fusion 59 32 hallmark (90%) Very frequent (99-80%) HP:0000902
17 intellectual disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001249
18 intrauterine growth retardation 59 32 hallmark (90%) Very frequent (99-80%) HP:0001511
19 umbilical hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001537
20 respiratory insufficiency 59 32 hallmark (90%) Very frequent (99-80%) HP:0002093
21 meningocele 59 32 occasional (7.5%) Occasional (29-5%) HP:0002435
22 scoliosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002650
23 kyphosis 59 32 frequent (33%) Frequent (79-30%) HP:0002808
24 spina bifida occulta 59 32 occasional (7.5%) Occasional (29-5%) HP:0003298
25 abnormal form of the vertebral bodies 59 32 hallmark (90%) Very frequent (99-80%) HP:0003312
26 vertebral segmentation defect 59 32 hallmark (90%) Very frequent (99-80%) HP:0003422
27 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
28 abnormality of the intervertebral disk 59 32 hallmark (90%) Very frequent (99-80%) HP:0005108
29 depressed nasal bridge 59 32 occasional (7.5%) Occasional (29-5%) HP:0005280
30 finger syndactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0006101
31 rib segmentation abnormalities 59 32 hallmark (90%) Very frequent (99-80%) HP:0006655
32 short thorax 59 32 hallmark (90%) Very frequent (99-80%) HP:0010306
33 anomalous pulmonary venous return 59 32 occasional (7.5%) Occasional (29-5%) HP:0010772
34 abnormality of immune system physiology 59 32 hallmark (90%) Very frequent (99-80%) HP:0010978
35 camptodactyly of finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0100490
36 urogenital fistula 59 32 occasional (7.5%) Occasional (29-5%) HP:0100589
37 abnormality of the ribs 59 Very frequent (99-80%)
38 malformation of the heart and great vessels 59 Occasional (29-5%)

MGI Mouse Phenotypes related to Spondylocostal Dysostosis, Autosomal Recessive:

46
# 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 HES7 LFNG MESP2 RIPPLY2 DLL3
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 29

Anatomical Context for Spondylocostal Dysostosis, Autosomal Recessive

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

41
Heart, Bone

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
Molecular genetic prenatal diagnosis for a case of autosomal recessive spondylocostal dysostosis. ( 12868087 )
2003
3
A cluster of autosomal recessive spondylocostal dysostosis caused by three newly identified DLL3 mutations segregating in a small village. ( 12791036 )
2003
4
A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3. ( 10364530 )
1999
5
Spondylocostal Dysostosis, Autosomal Recessive ( 20301771 )
1993
6
Evidence for variable gene expression in a large inbred kindred with autosomal recessive spondylocostal dysostosis. ( 1999829 )
1991

Variations for Spondylocostal Dysostosis, Autosomal Recessive

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 9.65 DLL3 HES7 LFNG MESP2 RIPPLY2
2 skeletal system development GO:0001501 9.43 DLL3 HES7
3 embryonic pattern specification GO:0009880 9.4 MESP2 RIPPLY2
4 post-anal tail morphogenesis GO:0036342 9.37 HES7 RIPPLY2
5 regulation of somitogenesis GO:0014807 9.32 HES7 LFNG
6 Notch signaling pathway GO:0007219 9.26 DLL3 HES7 MESP2 RIPPLY2
7 compartment pattern specification GO:0007386 9.16 DLL3 LFNG
8 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
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
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44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
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54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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