SCDO5
MCID: SPN330
MIFTS: 41

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 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 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, lung and heart, and related phenotypes are macrocephaly and short neck

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 top 50) (show all 66)
# Related Disease Score Top Affiliating Genes
1 spondylocostal dysostosis 3, autosomal recessive 32.7 TBX6 HES7
2 dysostosis 30.7 TBX6 HES7
3 genital herpes 11.4
4 anogenital venereal wart 11.4
5 herpes simplex 11.4
6 bacterial vaginosis 11.4
7 vacterl association, x-linked, with or without hydrocephalus 11.2
8 spondylocostal dysostosis, autosomal recessive 11.1
9 leukorrhea 11.0
10 chlamydia 10.5
11 urethritis 10.4
12 neural tube defects 10.4
13 neural tube defects, folate-sensitive 10.4
14 hepatitis 10.3
15 viral hepatitis 10.3
16 spondylocostal dysostosis 1, autosomal recessive 10.3
17 spondylocostal dysostosis 1 10.3
18 chiari malformation type ii 10.2
19 diastematomyelia 10.2
20 wilms tumor 6 10.2
21 pulmonary hypertension 10.2
22 hydrocephalus 10.2
23 meningocele 10.2
24 hypothyroidism 10.2
25 atrial heart septal defect 10.2
26 chiari malformation 10.2
27 human immunodeficiency virus infectious disease 10.2
28 syphilis 10.2
29 polydactyly 10.1
30 human immunodeficiency virus type 1 10.1
31 pelvic inflammatory disease 10.1
32 infertility 10.1
33 acquired immunodeficiency syndrome 10.1
34 craniometaphyseal dysplasia, autosomal dominant 10.0
35 heart disease 10.0
36 mesocardia 10.0
37 hepatitis b 10.0
38 bacteriuria 10.0
39 cervicitis 10.0
40 substance abuse 10.0
41 vaginal discharge 10.0
42 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 9.8
43 mycobacterium tuberculosis 1 9.8
44 west nile virus 9.8
45 cavitary optic disc anomalies 9.8
46 human herpesvirus 8 9.8
47 trichomonas vaginalis trichomoniasis 9.8
48 ectopic pregnancy 9.8
49 gastric ulcer 9.8
50 urethral syndrome 9.8

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 32)
# 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 occasional (7.5%) Frequent (79-30%) HP:0000470
3 scoliosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002650
4 hyperlordosis 59 32 frequent (33%) Frequent (79-30%) HP:0003307
5 recurrent respiratory infections 59 32 occasional (7.5%) Occasional (29-5%) HP:0002205
6 wide nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0000431
7 microcephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000252
8 anteverted nares 59 32 frequent (33%) Frequent (79-30%) HP:0000463
9 cleft palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000175
10 short thorax 59 32 frequent (33%) Frequent (79-30%) HP:0010306
11 prominent occiput 59 32 frequent (33%) Frequent (79-30%) HP:0000269
12 intrauterine growth retardation 59 32 hallmark (90%) Very frequent (99-80%) HP:0001511
13 upslanted palpebral fissure 59 32 frequent (33%) Frequent (79-30%) HP:0000582
14 severe short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0003510
15 spina bifida occulta 59 32 occasional (7.5%) Occasional (29-5%) HP:0003298
16 vertebral segmentation defect 59 32 hallmark (90%) Very frequent (99-80%) HP:0003422
17 missing ribs 59 32 occasional (7.5%) Occasional (29-5%) HP:0000921
18 abnormality of female internal genitalia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000008
19 posterior rib fusion 59 32 occasional (7.5%) Occasional (29-5%) HP:0000913
20 pectus carinatum 32 occasional (7.5%) HP:0000768
21 malformation of the heart and great vessels 59 Occasional (29-5%)
22 disproportionate short-trunk short stature 32 HP:0003521
23 abnormality of the ribs 59 Occasional (29-5%)
24 hemivertebrae 32 HP:0002937
25 vertebral fusion 32 HP:0002948
26 butterfly vertebrae 32 HP:0003316
27 supernumerary ribs 32 HP:0005815
28 abnormality of the sacrum 59 Occasional (29-5%)
29 abnormality of cardiovascular system morphology 32 occasional (7.5%) HP:0030680
30 syringomyelia 32 occasional (7.5%) HP:0003396
31 low back pain 32 HP:0003419
32 abnormal sacrum morphology 32 occasional (7.5%) HP:0005107

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, Prostate

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 top 50) (show all 129)
# 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 DLL3 NM_016941.3(DLL3): c.425T> A (p.Leu142Gln) single nucleotide variant Benign/Likely benign rs55741253 GRCh37 Chromosome 19, 39993470: 39993470
8 DLL3 NM_016941.3(DLL3): c.425T> A (p.Leu142Gln) single nucleotide variant Benign/Likely benign rs55741253 GRCh38 Chromosome 19, 39502830: 39502830
9 DLL3 NM_016941.3(DLL3): c.515T> G (p.Phe172Cys) single nucleotide variant Benign rs8107127 GRCh37 Chromosome 19, 39993560: 39993560
10 DLL3 NM_016941.3(DLL3): c.515T> G (p.Phe172Cys) single nucleotide variant Benign rs8107127 GRCh38 Chromosome 19, 39502920: 39502920
11 DLL3 NM_016941.3(DLL3): c.653T> C (p.Leu218Pro) single nucleotide variant Benign rs1110627 GRCh37 Chromosome 19, 39994711: 39994711
12 DLL3 NM_016941.3(DLL3): c.653T> C (p.Leu218Pro) single nucleotide variant Benign rs1110627 GRCh38 Chromosome 19, 39504071: 39504071
13 TBX6 NM_004608.3(TBX6): c.1311A> T (p.Ter437Cys) single nucleotide variant Pathogenic rs587777113 GRCh37 Chromosome 16, 30097546: 30097546
14 TBX6 NM_004608.3(TBX6): c.1311A> T (p.Ter437Cys) single nucleotide variant Pathogenic rs587777113 GRCh38 Chromosome 16, 30086225: 30086225
15 TBX6 NM_004608.3(TBX6): c.844C> T (p.Arg282Ter) single nucleotide variant Pathogenic rs201620629 GRCh38 Chromosome 16, 30086847: 30086847
16 TBX6 NM_004608.3(TBX6): c.844C> T (p.Arg282Ter) single nucleotide variant Pathogenic rs201620629 GRCh37 Chromosome 16, 30098168: 30098168
17 TBX6 NM_004608.3(TBX6): c.-49+34G> T single nucleotide variant no interpretation for the single variant rs3809627 GRCh38 Chromosome 16, 30091839: 30091839
18 TBX6 NM_004608.3(TBX6): c.-49+34G> T single nucleotide variant no interpretation for the single variant rs3809627 GRCh37 Chromosome 16, 30103160: 30103160
19 TBX6 NM_004608.3(TBX6): c.1250dupT (p.Leu419Serfs) duplication Pathogenic rs786204039 GRCh37 Chromosome 16, 30097607: 30097607
20 TBX6 NM_004608.3(TBX6): c.1250dupT (p.Leu419Serfs) duplication Pathogenic rs786204039 GRCh38 Chromosome 16, 30086286: 30086286
21 TBX6 NM_004608.3(TBX6): c.266dupC (p.Val91Glyfs) duplication Pathogenic rs786204040 GRCh37 Chromosome 16, 30102166: 30102166
22 TBX6 NM_004608.3(TBX6): c.266dupC (p.Val91Glyfs) duplication Pathogenic rs786204040 GRCh38 Chromosome 16, 30090845: 30090845
23 TBX6 NM_004608.3(TBX6): c.434C> T (p.Pro145Leu) single nucleotide variant Pathogenic rs202193096 GRCh37 Chromosome 16, 30100451: 30100451
24 TBX6 NM_004608.3(TBX6): c.434C> T (p.Pro145Leu) single nucleotide variant Pathogenic rs202193096 GRCh38 Chromosome 16, 30089130: 30089130
25 TBX6 NM_004608.3(TBX6): c.1169dupC (p.His391Alafs) duplication Pathogenic rs879253776 GRCh38 Chromosome 16, 30086367: 30086367
26 TBX6 NM_004608.3(TBX6): c.1169dupC (p.His391Alafs) duplication Pathogenic rs879253776 GRCh37 Chromosome 16, 30097688: 30097688
27 TBX6 NM_004608.3(TBX6): c.704dupG (p.Met236Hisfs) duplication Pathogenic rs758051786 GRCh37 Chromosome 16, 30100078: 30100078
28 TBX6 NM_004608.3(TBX6): c.704dupG (p.Met236Hisfs) duplication Pathogenic rs758051786 GRCh38 Chromosome 16, 30088757: 30088757
29 subset of 27 genes:PRRT2 NC_000016.9: g.(?_29651599)_(30199709_?)del deletion Pathogenic GRCh37 Chromosome 16, 29651599: 30199709
30 TBX6 NM_004608.3(TBX6): c.1179_1180delAG (p.Gly395Leufs) deletion Pathogenic rs879253857 GRCh38 Chromosome 16, 30086356: 30086357
31 TBX6 NM_004608.3(TBX6): c.1227G> A (p.Pro409=) single nucleotide variant Benign rs2289292 GRCh38 Chromosome 16, 30086309: 30086309
32 TBX6 NM_004608.3(TBX6): c.1227G> A (p.Pro409=) single nucleotide variant Benign rs2289292 GRCh37 Chromosome 16, 30097630: 30097630
33 DLL3 NM_016941.3(DLL3): c.546C> G (p.Ala182=) single nucleotide variant Benign rs8106337 GRCh38 Chromosome 19, 39502951: 39502951
34 DLL3 NM_016941.3(DLL3): c.546C> G (p.Ala182=) single nucleotide variant Benign rs8106337 GRCh37 Chromosome 19, 39993591: 39993591
35 DLL3 NM_016941.3(DLL3): c.1029C> T (p.Pro343=) single nucleotide variant Benign rs2304214 GRCh37 Chromosome 19, 39996027: 39996027
36 DLL3 NM_016941.3(DLL3): c.1029C> T (p.Pro343=) single nucleotide variant Benign rs2304214 GRCh38 Chromosome 19, 39505387: 39505387
37 DLL3 NM_016941.3(DLL3): c.1562C> T (p.Ser521Phe) single nucleotide variant Likely benign rs191149379 GRCh38 Chromosome 19, 39507507: 39507507
38 DLL3 NM_016941.3(DLL3): c.1562C> T (p.Ser521Phe) single nucleotide variant Likely benign rs191149379 GRCh37 Chromosome 19, 39998147: 39998147
39 DLL3 NM_016941.3(DLL3): c.1674-10C> T single nucleotide variant Benign/Likely benign rs116099821 GRCh38 Chromosome 19, 39507820: 39507820
40 DLL3 NM_016941.3(DLL3): c.1674-10C> T single nucleotide variant Benign/Likely benign rs116099821 GRCh37 Chromosome 19, 39998460: 39998460
41 MESP2 NM_001039958.1(MESP2): c.558_569delGGGGCAGGGGCA (p.Gln202_Gly205del) deletion Benign/Likely benign rs56192595 GRCh37 Chromosome 15, 90320146: 90320157
42 MESP2 NM_001039958.1(MESP2): c.558_569delGGGGCAGGGGCA (p.Gln202_Gly205del) deletion Benign/Likely benign rs56192595 GRCh38 Chromosome 15, 89776915: 89776926
43 DLL3 NM_016941.3(DLL3): c.1066C> T (p.Arg356Trp) single nucleotide variant Uncertain significance rs146274789 GRCh37 Chromosome 19, 39996064: 39996064
44 DLL3 NM_016941.3(DLL3): c.1066C> T (p.Arg356Trp) single nucleotide variant Uncertain significance rs146274789 GRCh38 Chromosome 19, 39505424: 39505424
45 MESP2 NM_001039958.1(MESP2): c.*107T> C single nucleotide variant Uncertain significance rs187988937 GRCh37 Chromosome 15, 90321672: 90321672
46 MESP2 NM_001039958.1(MESP2): c.*107T> C single nucleotide variant Uncertain significance rs187988937 GRCh38 Chromosome 15, 89778441: 89778441
47 TBX6 NM_004608.3(TBX6): c.-48-240A> G single nucleotide variant no interpretation for the single variant rs3809624 GRCh38 Chromosome 16, 30091481: 30091481
48 TBX6 NM_004608.3(TBX6): c.-48-240A> G single nucleotide variant no interpretation for the single variant rs3809624 GRCh37 Chromosome 16, 30102802: 30102802
49 MESP2 NM_001039958.1(MESP2): c.908T> C (p.Leu303Pro) single nucleotide variant Likely benign rs185706635 GRCh37 Chromosome 15, 90320496: 90320496
50 MESP2 NM_001039958.1(MESP2): c.908T> C (p.Leu303Pro) single nucleotide variant Likely benign rs185706635 GRCh38 Chromosome 15, 89777265: 89777265

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
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30 HGMD
31 HMDB
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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