SCDO5
MCID: SPN330
MIFTS: 40

Spondylocostal Dysostosis 5 (SCDO5)

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

Aliases & Classifications for Spondylocostal Dysostosis 5

MalaCards integrated aliases for Spondylocostal Dysostosis 5:

Name: Spondylocostal Dysostosis 5 58 54 76 30 6
Spondylothoracic Dysostosis 58 54 26 76
Costovertebral Segmentation Anomalies 58 54 76
Spondylocostal Dysplasia 58 54 76
Jarcho-Levin Syndrome 54 26 74
Scdo5 58 54 76
Scoliosis, Congenital, with or Without Rib Anomalies 58 76
Spondylocostal Dysostosis 4, Autosomal Dominant 74
Autosomal Dominant Spondylocostal Dysostosis 60
Autosomal Dominant Spondylocostal Dysplasia 60
Spondylothoracic Dysplasia 54
Tacs 58
Std 26

Characteristics:

Orphanet epidemiological data:

60
autosomal dominant spondylocostal dysostosis
Inheritance: Autosomal dominant;

OMIM:

58
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
intrafamilial variability of features
a risk haplotype in addition to a null mutation is present in most patients


HPO:

33
spondylocostal dysostosis 5:
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:



Summaries for Spondylocostal Dysostosis 5

NIH Rare Diseases : 54 Spondylothoracic dysostosis (STD) is a rare condition that affects the bones of the spine and the ribs. The term �??Jarcho-Levin syndrome�?� in many cases is used as a synonym for STD, and sometimes as a synonym for another condition known as spondylocostal dysostosis, which has several common features with STD. Also, the term �??Jarcho-Levin syndrome�?� is often used for all radiologic features that include defects of the vertebrae and abnormal rib alignment. Signs and symptoms of STD are generally present at birth and may include short-trunk dwarfism (a short body with normal length arms and legs); a small chest cavity; misshapen and abnormally-fused vertebrae (bones of the spine); and fused ribs at the part nearest the spine. Affected people may also have life-threatening breathing problems and recurrent lung infections, which can significantly reduce lifespan. It can occur in any population; however, it occurs most frequently in people of Puerto Rican ancestry. It is caused by changes (mutations) in the MESP2 gene and is inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present and may include surgery for bone malformations and respiratory support.

MalaCards based summary : Spondylocostal Dysostosis 5, also known as spondylothoracic dysostosis, is related to spondylocostal dysostosis 3, autosomal recessive and dysostosis. An important gene associated with Spondylocostal Dysostosis 5 is TBX6 (T-Box 6), and among its related pathways/superpathways are Mesodermal Commitment Pathway and Gene regulatory network modelling somitogenesis. Affiliated tissues include bone, and related phenotypes are scoliosis and intrauterine growth retardation

Genetics Home Reference : 26 Spondylothoracic dysostosis is a condition characterized by malformation of the bones of the spine and ribs. The bones of the spine (vertebrae) do not develop properly, which causes them to be misshapen and abnormally joined together (fused). The ribs are also fused at the part nearest the spine (posteriorly), which gives the rib cage its characteristic fan-like or "crab" appearance in x-rays. Affected individuals have short, rigid necks and short torsos because of the bone malformations. As a result, people with spondylothoracic dysostosis have short bodies but normal-length arms and legs, called short-trunk dwarfism.

UniProtKB/Swiss-Prot : 76 Spondylocostal dysostosis 5: A rare condition of variable severity characterized by vertebral and costal anomalies. The main feature include dwarfism, vertebral fusion, hemivertebrae, posterior rib fusion, reduced rib number, and other rib malformations. SCDO5 inheritance can be autosomal dominant or recessive.

Description from OMIM: 122600

Related Diseases for Spondylocostal Dysostosis 5

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 5 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 155)
# Related Disease Score Top Affiliating Genes
1 spondylocostal dysostosis 3, autosomal recessive 32.5 TBX6 HES7
2 dysostosis 30.5 TBX6 HES7
3 scoliosis 28.8 TBX6 HES7
4 herpes simplex 11.4
5 genital herpes 11.4
6 anogenital venereal wart 11.4
7 conotruncal heart malformations 11.4
8 sunct headache 11.3
9 vacterl association, x-linked, with or without hydrocephalus 11.2
10 spondylocostal dysostosis, autosomal recessive 11.2
11 chlamydia 10.5
12 leukemia 10.5
13 viral hepatitis 10.4
14 urethritis 10.4
15 syphilis 10.4
16 t-cell leukemia 10.4
17 adult t-cell leukemia 10.4
18 breast cancer 10.3
19 spondylocostal dysostosis 1, autosomal recessive 10.3
20 spondylocostal dysostosis 1 10.3
21 human immunodeficiency virus type 1 10.3
22 chiari malformation type ii 10.3
23 diastematomyelia 10.3
24 wilms tumor 5 10.3
25 wilms tumor 6 10.3
26 pulmonary hypertension 10.3
27 hydrocephalus 10.3
28 meningocele 10.3
29 hypothyroidism 10.3
30 atrial heart septal defect 10.3
31 chiari malformation 10.3
32 congenital hydrocephalus 10.3
33 bowenoid papulosis 10.2
34 hepatitis b 10.2
35 bacterial vaginosis 10.2
36 autism 10.2
37 tic disorder 10.2
38 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 10.1
39 substance abuse 10.1
40 lymphoma 10.1
41 polydactyly 10.1
42 pelvic inflammatory disease 10.1
43 squamous cell papilloma 10.1
44 papilloma 10.1
45 infertility 10.1
46 cervical intraepithelial neoplasia 10.1
47 craniometaphyseal dysplasia, autosomal dominant 10.0
48 neural tube defects 10.0
49 neural tube defects, folate-sensitive 10.0
50 heart disease 10.0

Graphical network of the top 20 diseases related to Spondylocostal Dysostosis 5:



Diseases related to Spondylocostal Dysostosis 5

Symptoms & Phenotypes for Spondylocostal Dysostosis 5

Human phenotypes related to Spondylocostal Dysostosis 5:

60 33 (show all 32)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0002650
2 intrauterine growth retardation 60 33 hallmark (90%) Very frequent (99-80%) HP:0001511
3 severe short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0003510
4 vertebral segmentation defect 60 33 hallmark (90%) Very frequent (99-80%) HP:0003422
5 short neck 60 33 occasional (7.5%) Frequent (79-30%) HP:0000470
6 hyperlordosis 60 33 frequent (33%) Frequent (79-30%) HP:0003307
7 wide nasal bridge 60 33 frequent (33%) Frequent (79-30%) HP:0000431
8 anteverted nares 60 33 frequent (33%) Frequent (79-30%) HP:0000463
9 short thorax 60 33 frequent (33%) Frequent (79-30%) HP:0010306
10 prominent occiput 60 33 frequent (33%) Frequent (79-30%) HP:0000269
11 upslanted palpebral fissure 60 33 frequent (33%) Frequent (79-30%) HP:0000582
12 macrocephaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0000256
13 recurrent respiratory infections 60 33 occasional (7.5%) Occasional (29-5%) HP:0002205
14 microcephaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0000252
15 cleft palate 60 33 occasional (7.5%) Occasional (29-5%) HP:0000175
16 spina bifida occulta 60 33 occasional (7.5%) Occasional (29-5%) HP:0003298
17 missing ribs 60 33 occasional (7.5%) Occasional (29-5%) HP:0000921
18 abnormality of female internal genitalia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000008
19 posterior rib fusion 60 33 occasional (7.5%) Occasional (29-5%) HP:0000913
20 pectus carinatum 33 occasional (7.5%) HP:0000768
21 abnormality of cardiovascular system morphology 33 occasional (7.5%) HP:0030680
22 syringomyelia 33 occasional (7.5%) HP:0003396
23 abnormal sacrum morphology 33 occasional (7.5%) HP:0005107
24 malformation of the heart and great vessels 60 Occasional (29-5%)
25 disproportionate short-trunk short stature 33 HP:0003521
26 abnormality of the ribs 60 Occasional (29-5%)
27 hemivertebrae 33 HP:0002937
28 vertebral fusion 33 HP:0002948
29 butterfly vertebrae 33 HP:0003316
30 supernumerary ribs 33 HP:0005815
31 abnormality of the sacrum 60 Occasional (29-5%)
32 low back pain 33 HP:0003419

Symptoms via clinical synopsis from OMIM:

58
Skeletal Spine:
scoliosis
hemivertebrae
butterfly vertebrae
fused vertebrae
syringomyelia (in some patients)

Growth Height:
short stature, disproportionate (short trunk)

Chest Ribs Sternum Clavicles And Scapulae:
missing ribs
pectus carinatum (in some patients)
rib abnormalities
fused ribs
extra ribs

Head And Neck Neck:
short neck (in some patients)

Clinical features from OMIM:

122600

MGI Mouse Phenotypes related to Spondylocostal Dysostosis 5:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 9.13 HES7 TBX6 YPEL3
2 skeleton MP:0005390 8.8 HES7 TBX6 YPEL3

Drugs & Therapeutics for Spondylocostal Dysostosis 5

Search Clinical Trials , NIH Clinical Center for Spondylocostal Dysostosis 5

Genetic Tests for Spondylocostal Dysostosis 5

Genetic tests related to Spondylocostal Dysostosis 5:

# Genetic test Affiliating Genes
1 Spondylocostal Dysostosis 5 30

Anatomical Context for Spondylocostal Dysostosis 5

MalaCards organs/tissues related to Spondylocostal Dysostosis 5:

42
Bone

Publications for Spondylocostal Dysostosis 5

Articles related to Spondylocostal Dysostosis 5:

# Title Authors Year
1
Spatiotemporal disorder in the axial skeleton development of the Mesp2-null mouse: a model of spondylocostal dysostosis and spondylothoracic dysostosis. ( 23238123 )
2013
2
Three-dimensional computed tomography of fetal spondylothoracic dysostosis at 23 weeks' gestation. ( 22565932 )
2012
3
Clinical and radiological distinction between spondylothoracic dysostosis (Lavy-Moseley syndrome) and spondylocostal dysostosis (Jarcho-Levin syndrome). ( 21174082 )
2011
4
Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho- Levin syndrome. ( 18485326 )
2008
5
Thoracic three-dimensional spiral CT findings of an infant with spondylothoracic dysostosis. ( 15876776 )
2005
6
Spondylothoracic dysostosis associated with diaphragmatic hernia and camptodactyly. ( 12416639 )
2002
7
Congenital heart disease in spondylothoracic dysostosis: two familial cases. ( 7473656 )
1995
8
Spondylothoracic Dysostosis ( 20687255 )
1993
9
Spondylocostal/spondylothoracic dysostosis: the clinical basis for prognosticating and genetic counseling. ( 3740094 )
1986
10
Spondylothoracic dysostosis: report of two cases and review of the literature. ( 350188 )
1978

Variations for Spondylocostal Dysostosis 5

ClinVar genetic disease variations for Spondylocostal Dysostosis 5:

6 (show all 33)
# Gene Variation Type Significance SNP ID Assembly Location
1 TBX6 NM_004608.3(TBX6): c.844C> T (p.Arg282Ter) single nucleotide variant Pathogenic rs201620629 GRCh38 Chromosome 16, 30086847: 30086847
2 TBX6 NM_004608.3(TBX6): c.844C> T (p.Arg282Ter) single nucleotide variant Pathogenic rs201620629 GRCh37 Chromosome 16, 30098168: 30098168
3 TBX6 NM_004608.3(TBX6): c.-49+34G> T single nucleotide variant no interpretation for the single variant rs3809627 GRCh38 Chromosome 16, 30091839: 30091839
4 TBX6 NM_004608.3(TBX6): c.-49+34G> T single nucleotide variant no interpretation for the single variant rs3809627 GRCh37 Chromosome 16, 30103160: 30103160
5 TBX6 NM_004608.3(TBX6): c.1250dupT (p.Leu419Serfs) duplication Pathogenic rs786204039 GRCh37 Chromosome 16, 30097607: 30097607
6 TBX6 NM_004608.3(TBX6): c.1250dupT (p.Leu419Serfs) duplication Pathogenic rs786204039 GRCh38 Chromosome 16, 30086286: 30086286
7 TBX6 NM_004608.3(TBX6): c.266dupC (p.Val91Glyfs) duplication Pathogenic rs786204040 GRCh37 Chromosome 16, 30102166: 30102166
8 TBX6 NM_004608.3(TBX6): c.266dupC (p.Val91Glyfs) duplication Pathogenic rs786204040 GRCh38 Chromosome 16, 30090845: 30090845
9 TBX6 NM_004608.3(TBX6): c.434C> T (p.Pro145Leu) single nucleotide variant Pathogenic rs202193096 GRCh37 Chromosome 16, 30100451: 30100451
10 TBX6 NM_004608.3(TBX6): c.434C> T (p.Pro145Leu) single nucleotide variant Pathogenic rs202193096 GRCh38 Chromosome 16, 30089130: 30089130
11 HES7 NM_032580.3(HES7): c.73C> T (p.Arg25Trp) single nucleotide variant Pathogenic rs113994160 GRCh37 Chromosome 17, 8026414: 8026414
12 HES7 NM_032580.3(HES7): c.73C> T (p.Arg25Trp) single nucleotide variant Pathogenic rs113994160 GRCh38 Chromosome 17, 8123096: 8123096
13 HES7 NM_032580.3(HES7): c.556G> T (p.Asp186Tyr) single nucleotide variant Pathogenic rs387906978 GRCh37 Chromosome 17, 8025011: 8025011
14 HES7 NM_032580.3(HES7): c.556G> T (p.Asp186Tyr) single nucleotide variant Pathogenic rs387906978 GRCh38 Chromosome 17, 8121693: 8121693
15 HES7 NM_032580.3(HES7): c.172A> G (p.Ile58Val) single nucleotide variant Pathogenic rs387906979 GRCh37 Chromosome 17, 8025715: 8025715
16 HES7 NM_032580.3(HES7): c.172A> G (p.Ile58Val) single nucleotide variant Pathogenic rs387906979 GRCh38 Chromosome 17, 8122397: 8122397
17 TBX6 NM_004608.3(TBX6): c.1169dupC (p.His391Alafs) duplication Pathogenic rs879253776 GRCh38 Chromosome 16, 30086367: 30086367
18 TBX6 NM_004608.3(TBX6): c.1169dupC (p.His391Alafs) duplication Pathogenic rs879253776 GRCh37 Chromosome 16, 30097688: 30097688
19 TBX6 NM_004608.3(TBX6): c.704dupG (p.Met236Hisfs) duplication Pathogenic rs758051786 GRCh37 Chromosome 16, 30100078: 30100078
20 TBX6 NM_004608.3(TBX6): c.704dupG (p.Met236Hisfs) duplication Pathogenic rs758051786 GRCh38 Chromosome 16, 30088757: 30088757
21 subset of 27 genes:PRRT2 NC_000016.9: g.(?_29651599)_(30199709_?)del deletion Pathogenic GRCh37 Chromosome 16, 29651599: 30199709
22 TBX6 NM_004608.3(TBX6): c.-48-240A> G single nucleotide variant no interpretation for the single variant rs3809624 GRCh38 Chromosome 16, 30091481: 30091481
23 TBX6 NM_004608.3(TBX6): c.-48-240A> G single nucleotide variant no interpretation for the single variant rs3809624 GRCh37 Chromosome 16, 30102802: 30102802
24 TBX6 NM_004608.3(TBX6): c.221dup (p.Thr75Hisfs) duplication Pathogenic GRCh37 Chromosome 16, 30102211: 30102211
25 TBX6 NM_004608.3(TBX6): c.221dup (p.Thr75Hisfs) duplication Pathogenic GRCh38 Chromosome 16, 30090890: 30090890
26 TBX6 NM_004608.3(TBX6): c.1227G> A (p.Pro409=) single nucleotide variant Benign rs2289292 GRCh37 Chromosome 16, 30097630: 30097630
27 TBX6 NM_004608.3(TBX6): c.1227G> A (p.Pro409=) single nucleotide variant Benign rs2289292 GRCh38 Chromosome 16, 30086309: 30086309
28 TBX6 NM_004608.3(TBX6): c.1179_1180delAG (p.Gly395Leufs) deletion Pathogenic rs879253857 GRCh37 Chromosome 16, 30097677: 30097678
29 TBX6 NM_004608.3(TBX6): c.1179_1180delAG (p.Gly395Leufs) deletion Pathogenic rs879253857 GRCh38 Chromosome 16, 30086356: 30086357
30 TBX6 NM_004608.3(TBX6): c.1311A> T (p.Ter437Cys) single nucleotide variant Pathogenic rs587777113 GRCh38 Chromosome 16, 30086225: 30086225
31 TBX6 NM_004608.3(TBX6): c.1311A> T (p.Ter437Cys) single nucleotide variant Pathogenic rs587777113 GRCh37 Chromosome 16, 30097546: 30097546
32 HES7 NM_032580.3(HES7): c.385_394dupAAACCGCCCC (p.Arg132Glnfs) duplication Pathogenic rs398122970 GRCh38 Chromosome 17, 8121855: 8121864
33 HES7 NM_032580.3(HES7): c.385_394dupAAACCGCCCC (p.Arg132Glnfs) duplication Pathogenic rs398122970 GRCh37 Chromosome 17, 8025173: 8025182

Expression for Spondylocostal Dysostosis 5

Search GEO for disease gene expression data for Spondylocostal Dysostosis 5.

Pathways for Spondylocostal Dysostosis 5

Pathways related to Spondylocostal Dysostosis 5 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.44 HES7 TBX6
2 9.66 HES7 TBX6

GO Terms for Spondylocostal Dysostosis 5

Biological processes related to Spondylocostal Dysostosis 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mesoderm development GO:0007498 8.62 HES7 TBX6

Sources for Spondylocostal Dysostosis 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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