SCDO5
MCID: SPN330
MIFTS: 40

Spondylocostal Dysostosis 5 (SCDO5)

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

Aliases & Classifications for Spondylocostal Dysostosis 5

MalaCards integrated aliases for Spondylocostal Dysostosis 5:

Name: Spondylocostal Dysostosis 5 57 53 75 29 6
Spondylothoracic Dysostosis 57 53 25 75
Costovertebral Segmentation Anomalies 57 53 75
Spondylocostal Dysplasia 57 53 75
Jarcho-Levin Syndrome 53 25 73
Scdo5 57 53 75
Scoliosis, Congenital, with or Without Rib Anomalies 57 75
Spondylocostal Dysostosis 4, Autosomal Dominant 73
Autosomal Dominant Spondylocostal Dysostosis 59
Autosomal Dominant Spondylocostal Dysplasia 59
Spondylothoracic Dysplasia 53
Std 25

Characteristics:

Orphanet epidemiological data:

59
autosomal dominant spondylocostal dysostosis
Inheritance: Autosomal dominant;

OMIM:

57
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:

32
spondylocostal dysostosis 5:
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:



Summaries for Spondylocostal Dysostosis 5

NIH Rare Diseases : 53 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 herpes simplex. 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, lung and heart, and related phenotypes are abnormality of female internal genitalia and cleft palate

Genetics Home Reference : 25 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 : 75 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 all 48)
# Related Disease Score Top Affiliating Genes
1 spondylocostal dysostosis 3, autosomal recessive 31.7 HES7 TBX6
2 herpes simplex 11.2
3 genital herpes 11.2
4 bacterial vaginosis 11.2
5 pelvic inflammatory disease 11.2
6 anogenital venereal wart 11.2
7 vacterl association, x-linked, with or without hydrocephalus 11.0
8 spondylocostal dysostosis, autosomal recessive 11.0
9 leukorrhea 10.9
10 urethritis 10.2
11 chlamydia 10.2
12 hepatitis 10.1
13 viral hepatitis 10.1
14 vaginitis 9.9
15 syphilis 9.9
16 craniometaphyseal dysplasia, autosomal dominant 9.9
17 spondylocostal dysostosis 1, autosomal recessive 9.9
18 type i 9.9
19 spondylocostal dysostosis 1 9.9
20 mesocardia 9.9
21 bacteriuria 9.8
22 cervicitis 9.8
23 substance abuse 9.8
24 vaginal discharge 9.8
25 infertility 9.8
26 aging 9.7
27 west nile virus 9.7
28 hepatitis b 9.7
29 ectopic pregnancy 9.7
30 mucositis 9.7
31 gastric ulcer 9.7
32 urethral syndrome 9.7
33 lymphogranuloma venereum 9.7
34 schistosomiasis 9.7
35 prostatitis 9.7
36 candidiasis 9.7
37 trichomoniasis 9.7
38 vulvovaginal candidiasis 9.7
39 vulvovaginitis 9.7
40 hidradenitis suppurativa 9.7
41 hidradenitis 9.7
42 secondary syphilis 9.7
43 salpingitis 9.7
44 acquired immunodeficiency syndrome 9.7
45 molluscum contagiosum 9.7
46 congenital syphilis 9.7
47 dysostosis 9.1 HES7 TBX6
48 scoliosis 8.9 HES7 TBX6

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



Diseases related to Spondylocostal Dysostosis 5

Symptoms & Phenotypes for Spondylocostal Dysostosis 5

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Spondylocostal Dysostosis 5:

59 32 (show all 31)
# 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 cleft palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000175
3 microcephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000252
4 macrocephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000256
5 prominent occiput 59 32 frequent (33%) Frequent (79-30%) HP:0000269
6 wide nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0000431
7 anteverted nares 59 32 frequent (33%) Frequent (79-30%) HP:0000463
8 short neck 59 32 occasional (7.5%) Frequent (79-30%) HP:0000470
9 upslanted palpebral fissure 59 32 frequent (33%) Frequent (79-30%) HP:0000582
10 posterior rib fusion 59 32 occasional (7.5%) Occasional (29-5%) HP:0000913
11 missing ribs 59 32 occasional (7.5%) Occasional (29-5%) HP:0000921
12 intrauterine growth retardation 59 32 hallmark (90%) Very frequent (99-80%) HP:0001511
13 recurrent respiratory infections 59 32 occasional (7.5%) Occasional (29-5%) HP:0002205
14 scoliosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002650
15 spina bifida occulta 59 32 occasional (7.5%) Occasional (29-5%) HP:0003298
16 hyperlordosis 59 32 frequent (33%) Frequent (79-30%) HP:0003307
17 vertebral segmentation defect 59 32 hallmark (90%) Very frequent (99-80%) HP:0003422
18 severe short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0003510
19 abnormality of the sacrum 59 32 occasional (7.5%) Occasional (29-5%) HP:0005107
20 short thorax 59 32 frequent (33%) Frequent (79-30%) HP:0010306
21 abnormality of the ribs 59 Occasional (29-5%)
22 malformation of the heart and great vessels 59 Occasional (29-5%)
23 pectus carinatum 32 occasional (7.5%) HP:0000768
24 hemivertebrae 32 HP:0002937
25 vertebral fusion 32 HP:0002948
26 butterfly vertebrae 32 HP:0003316
27 syringomyelia 32 occasional (7.5%) HP:0003396
28 low back pain 32 HP:0003419
29 disproportionate short-trunk short stature 32 HP:0003521
30 supernumerary ribs 32 HP:0005815
31 abnormality of cardiovascular system morphology 32 occasional (7.5%) HP:0030680

MGI Mouse Phenotypes related to Spondylocostal Dysostosis 5:

46
# 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 29 TBX6

Anatomical Context for Spondylocostal Dysostosis 5

MalaCards organs/tissues related to Spondylocostal Dysostosis 5:

41
Bone, Lung, Heart

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

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 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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