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 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 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 bone and heart, and related phenotypes are macrocephaly 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
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 30)
# Related Disease Score Top Affiliating Genes
1 spondylocostal dysostosis 3, autosomal recessive 31.2 DLL3 HES7 LFNG MESP2 RIPPLY2
2 dysostosis 29.7 DLL3 HES7 LFNG MESP2 RIPPLY2
3 spondylocostal dysostosis 1, autosomal recessive 29.4 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 11.6
7 spondylocostal dysostosis 2, autosomal recessive 11.5
8 spondylocostal dysostosis 5 11.4
9 spondylocostal dysostosis 3 11.3
10 spondylocostal dysostosis 4 11.3
11 spondylocostal dysostosis 1 11.3
12 spondylocostal dysostosis 2 11.3
13 vacterl association, x-linked, with or without hydrocephalus 11.2
14 neural tube defects 10.4
15 neural tube defects, folate-sensitive 10.4
16 chiari malformation type ii 10.2
17 diastematomyelia 10.2
18 wilms tumor 6 10.2
19 pulmonary hypertension 10.2
20 hydrocephalus 10.2
21 meningocele 10.2
22 hypothyroidism 10.2
23 atrial heart septal defect 10.2
24 chiari malformation 10.2
25 trisomy 22 10.0
26 craniometaphyseal dysplasia, autosomal dominant 10.0
27 heart disease 10.0
28 mesocardia 10.0
29 hajdu-cheney syndrome 9.8 DLL3 HES7
30 scoliosis 9.2 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:

59 32 (show all 38)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000256
2 short neck 59 32 hallmark (90%) Very frequent (99-80%) HP:0000470
3 finger syndactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0006101
4 intellectual disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001249
5 respiratory insufficiency 59 32 hallmark (90%) Very frequent (99-80%) HP:0002093
6 scoliosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002650
7 kyphosis 59 32 frequent (33%) Frequent (79-30%) HP:0002808
8 inguinal hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000023
9 depressed nasal bridge 59 32 occasional (7.5%) Occasional (29-5%) HP:0005280
10 umbilical hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001537
11 microcephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000252
12 anteverted nares 59 32 occasional (7.5%) Occasional (29-5%) HP:0000463
13 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
14 cleft palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000175
15 long philtrum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000343
16 abnormal form of the vertebral bodies 59 32 hallmark (90%) Very frequent (99-80%) HP:0003312
17 short thorax 59 32 hallmark (90%) Very frequent (99-80%) HP:0010306
18 prominent occiput 59 32 occasional (7.5%) Occasional (29-5%) HP:0000269
19 cryptorchidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000028
20 intrauterine growth retardation 59 32 hallmark (90%) Very frequent (99-80%) HP:0001511
21 abnormality of immune system physiology 59 32 hallmark (90%) Very frequent (99-80%) HP:0010978
22 broad forehead 59 32 occasional (7.5%) Occasional (29-5%) HP:0000337
23 hypospadias 59 32 occasional (7.5%) Occasional (29-5%) HP:0000047
24 low-set, posteriorly rotated ears 59 32 occasional (7.5%) Occasional (29-5%) HP:0000368
25 meningocele 59 32 occasional (7.5%) Occasional (29-5%) HP:0002435
26 urogenital fistula 59 32 occasional (7.5%) Occasional (29-5%) HP:0100589
27 spina bifida occulta 59 32 occasional (7.5%) Occasional (29-5%) HP:0003298
28 vertebral segmentation defect 59 32 hallmark (90%) Very frequent (99-80%) HP:0003422
29 camptodactyly of finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0100490
30 abnormality of the ureter 59 32 occasional (7.5%) Occasional (29-5%) HP:0000069
31 rib fusion 59 32 hallmark (90%) Very frequent (99-80%) HP:0000902
32 abnormality of female internal genitalia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000008
33 congenital diaphragmatic hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000776
34 abnormality of the intervertebral disk 59 32 hallmark (90%) Very frequent (99-80%) HP:0005108
35 rib segmentation abnormalities 59 32 hallmark (90%) Very frequent (99-80%) HP:0006655
36 anomalous pulmonary venous return 59 32 occasional (7.5%) Occasional (29-5%) HP:0010772
37 malformation of the heart and great vessels 59 Occasional (29-5%)
38 abnormality of the ribs 59 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 9.72 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 29

Anatomical Context for Spondylocostal Dysostosis, Autosomal Recessive

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

41
Bone, Heart

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
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 9.55 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
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
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
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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