SCDO2
MCID: SPN307
MIFTS: 26

Spondylocostal Dysostosis 2, Autosomal Recessive (SCDO2)

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

Aliases & Classifications for Spondylocostal Dysostosis 2, Autosomal Recessive

MalaCards integrated aliases for Spondylocostal Dysostosis 2, Autosomal Recessive:

Name: Spondylocostal Dysostosis 2, Autosomal Recessive 56 52 73
Spondylocostal Dysostosis 2 52 29 6
Scdo2 56 52 73
Spondylocostal Dysostosis, Autosomal Recessive 2 13 71
Dysostosis, Spondylocostal, Autosomal Recessive, Type 2 39

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
high prevalence in puerto rico


HPO:

31
spondylocostal dysostosis 2, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 56 608681
OMIM Phenotypic Series 56 PS277300
MeSH 43 D004413
MedGen 41 C1837549
UMLS 71 C1837549

Summaries for Spondylocostal Dysostosis 2, Autosomal Recessive

UniProtKB/Swiss-Prot : 73 Spondylocostal dysostosis 2, autosomal recessive: A condition of variable severity associated with vertebral and rib segmentation defects. The main skeletal malformations include fusion of vertebrae, hemivertebrae, fusion of certain ribs, and other rib malformations. Deformity of the chest and spine (severe scoliosis, kyphoscoliosis and lordosis) is a natural consequence of the malformation and leads to a dwarf-like appearance. As the thorax is small, infants frequently have respiratory insufficiency and repeated respiratory infections resulting in life-threatening complications in the first year of life.

MalaCards based summary : Spondylocostal Dysostosis 2, Autosomal Recessive, also known as spondylocostal dysostosis 2, is related to spondylocostal dysostosis, autosomal recessive. An important gene associated with Spondylocostal Dysostosis 2, Autosomal Recessive is MESP2 (Mesoderm Posterior BHLH Transcription Factor 2). Affiliated tissues include testes and bone, and related phenotypes are restrictive deficit on pulmonary function testing and short neck

OMIM : 56 Spondylocostal dysostosis is a term given to a heterogeneous group of disorders characterized by abnormal vertebral segmentation. For a general phenotypic description and a discussion of genetic heterogeneity of the disorder, see SCDO1 (277300). (608681)

Related Diseases for Spondylocostal Dysostosis 2, 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

Diseases related to Spondylocostal Dysostosis 2, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 spondylocostal dysostosis, autosomal recessive 11.6

Symptoms & Phenotypes for Spondylocostal Dysostosis 2, Autosomal Recessive

Human phenotypes related to Spondylocostal Dysostosis 2, Autosomal Recessive:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 restrictive deficit on pulmonary function testing 31 very rare (1%) HP:0002111
2 short neck 31 HP:0000470
3 recurrent respiratory infections 31 HP:0002205
4 disproportionate short-trunk short stature 31 HP:0003521
5 hemivertebrae 31 HP:0002937
6 vertebral segmentation defect 31 HP:0003422
7 rib fusion 31 HP:0000902
8 vertebral clefting 31 HP:0008428

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Neck:
short neck

Growth Height:
short stature, disproportionate (short trunk)

Skeletal Spine:
hemivertebrae
vertebral clefts
angular vertebrae
prominent pedicles of the vertebrae (tramline sign)
sickle-shaped vertebrae

Chest Ribs Sternum Clavicles And Scapulae:
fusion of ribs at costovertebral junction
'crab-like' appearance of ribs

Clinical features from OMIM:

608681

Drugs & Therapeutics for Spondylocostal Dysostosis 2, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Spondylocostal Dysostosis 2, Autosomal Recessive

Genetic Tests for Spondylocostal Dysostosis 2, Autosomal Recessive

Genetic tests related to Spondylocostal Dysostosis 2, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Spondylocostal Dysostosis 2 29 MESP2

Anatomical Context for Spondylocostal Dysostosis 2, Autosomal Recessive

MalaCards organs/tissues related to Spondylocostal Dysostosis 2, Autosomal Recessive:

40
Testes, Bone

Publications for Spondylocostal Dysostosis 2, Autosomal Recessive

Articles related to Spondylocostal Dysostosis 2, Autosomal Recessive:

# Title Authors PMID Year
1
Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome. 56 6
18485326 2008
2
Mutated MESP2 causes spondylocostal dysostosis in humans. 56 6
15122512 2004
3
Spondylocostal Dysostosis, Autosomal Recessive 6
20301771 2009
4
Phenotype characterization and natural history of spondylothoracic dysplasia syndrome: a series of 27 new cases. 56
15214000 2004
5
Two novel missense mutations in HAIRY-AND-ENHANCER-OF-SPLIT-7 in a family with spondylocostal dysostosis. 61
20087400 2010
6
Mutation of Hairy-and-Enhancer-of-Split-7 in humans causes spondylocostal dysostosis. 61
18775957 2008

Variations for Spondylocostal Dysostosis 2, Autosomal Recessive

ClinVar genetic disease variations for Spondylocostal Dysostosis 2, Autosomal Recessive:

6 (show all 44) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MESP2 NM_001039958.2(MESP2):c.500_503dup (p.Gly169fs)duplication Pathogenic 5183 rs113994158 15:90320084-90320085 15:89776853-89776854
2 MESP2 NM_001039958.2(MESP2):c.307G>T (p.Glu103Ter)SNV Pathogenic 5184 rs71647808 15:90319895-90319895 15:89776664-89776664
3 MESP2 NM_001039958.2(MESP2):c.373C>G (p.Leu125Val)SNV Pathogenic 5185 rs71647806 15:90319961-90319961 15:89776730-89776730
4 MESP2 NM_001039958.2(MESP2):c.700G>T (p.Glu234Ter)SNV Pathogenic 5186 rs118204035 15:90320288-90320288 15:89777057-89777057
5 MESP2 NM_001039958.2(MESP2):c.271A>G (p.Lys91Glu)SNV Pathogenic 38908 rs113994156 15:90319859-90319859 15:89776628-89776628
6 MESP2 NM_001039958.2(MESP2):c.385A>T (p.Ile129Phe)SNV Pathogenic 38909 rs113994157 15:90319973-90319973 15:89776742-89776742
7 MESP2 NM_001039958.2(MESP2):c.241G>T (p.Gly81Ter)SNV Likely pathogenic 38907 rs118204034 15:90319829-90319829 15:89776598-89776598
8 MESP2 NM_001039958.2(MESP2):c.11C>A (p.Ser4Ter)SNV Likely pathogenic 554878 rs1555439013 15:90319599-90319599 15:89776368-89776368
9 MESP2 NM_001039958.2(MESP2):c.586C>T (p.Gln196Ter)SNV Likely pathogenic 556996 rs1555439118 15:90320174-90320174 15:89776943-89776943
10 MESP2 NM_001039958.2(MESP2):c.258_261del (p.Glu88fs)deletion Likely pathogenic 555370 rs1452984345 15:90319844-90319847 15:89776613-89776616
11 MESP2 NM_001039958.2(MESP2):c.343_344dup (p.Gly116fs)duplication Likely pathogenic 557032 rs1555439061 15:90319930-90319931 15:89776699-89776700
12 MESP2 NM_001039958.2(MESP2):c.48G>A (p.Trp16Ter)SNV Likely pathogenic 552595 rs912110093 15:90319636-90319636 15:89776405-89776405
13 MESP2 NM_001039958.2(MESP2):c.250C>T (p.Gln84Ter)SNV Likely pathogenic 557334 rs762067626 15:90319838-90319838 15:89776607-89776607
14 MESP2 NM_001039958.2(MESP2):c.229G>T (p.Gly77Ter)SNV Likely pathogenic 551110 rs538996447 15:90319817-90319817 15:89776586-89776586
15 MESP2 NM_001039958.2(MESP2):c.116C>A (p.Ser39Ter)SNV Likely pathogenic 555826 rs1206731716 15:90319704-90319704 15:89776473-89776473
16 MESP2 NM_001039958.2(MESP2):c.249_256dup (p.Ala86fs)duplication Likely pathogenic 557590 rs1555439049 15:90319832-90319833 15:89776601-89776602
17 MESP2 NM_001039958.2(MESP2):c.349C>T (p.Gln117Ter)SNV Likely pathogenic 551651 rs1555439063 15:90319937-90319937 15:89776706-89776706
18 MESP2 NM_001039958.2(MESP2):c.737G>A (p.Trp246Ter)SNV Likely pathogenic 554365 rs1555439152 15:90320325-90320325 15:89777094-89777094
19 MESP2 NM_001039958.2(MESP2):c.801_806del (p.Asp268_Ala269del)deletion Uncertain significance 551393 rs1555439163 15:90320388-90320393 15:89777157-89777162
20 MESP2 NM_001039958.2(MESP2):c.1100_1101insT (p.Ser368fs)insertion Uncertain significance 553854 rs1555439287 15:90321471-90321472 15:89778240-89778241
21 MESP2 NM_001039958.2(MESP2):c.1151G>A (p.Trp384Ter)SNV Uncertain significance 554632 rs1420321324 15:90321522-90321522 15:89778291-89778291
22 MESP2 NM_001039958.2(MESP2):c.547_556del (p.Gly183Argfs)deletion Uncertain significance 557578 rs1555439104 15:90320135-90320144 15:89776904-89776913
23 MESP2 NM_001039958.2(MESP2):c.558_593del (p.180_181QG[7])deletion Uncertain significance 552837 rs771492607 15:90320138-90320173 15:89776907-89776942
24 MESP2 NM_001039958.2(MESP2):c.600_605del (p.180_181QG[12])deletion Uncertain significance 554295 rs1555439121 15:90320186-90320191 15:89776955-89776960
25 MESP2 NM_001039958.2(MESP2):c.718del (p.Val240fs)deletion Uncertain significance 556597 rs756232049 15:90320301-90320301 15:89777070-89777070
26 MESP2 NM_001039958.2(MESP2):c.916_917GT[1] (p.Tyr307fs)short repeat Uncertain significance 552673 rs1428605825 15:90320504-90320505 15:89777273-89777274
27 MESP2 NM_001039958.2(MESP2):c.1073_1074insAGAGGACCAGAGGACC (p.Gly359fs)insertion Uncertain significance 553409 rs1481361626 15:90321439-90321440 15:89778208-89778209
28 MESP2 NM_001039958.2(MESP2):c.1155_1157AGA[1] (p.Glu386del)short repeat Uncertain significance 550958 rs543667424 15:90321525-90321527 15:89778294-89778296
29 MESP2 NM_001039958.2(MESP2):c.531_550del (p.Glu178fs)deletion Uncertain significance 632245 rs1567149313 15:90320116-90320135 15:89776885-89776904
30 MESP2 NM_001039958.2(MESP2):c.585_608del (p.180_181QG[9])deletion Uncertain significance 557494 rs750330966 15:90320162-90320185 15:89776931-89776954
31 MESP2 NM_001039958.2(MESP2):c.640_643del (p.Val214fs)deletion Uncertain significance 556240 rs1468383573 15:90320226-90320229 15:89776995-89776998
32 MESP2 NM_001039958.2(MESP2):c.997A>T (p.Arg333Ter)SNV Uncertain significance 556328 rs1555439250 15:90321368-90321368 15:89778137-89778137
33 MESP2 NM_001039958.2(MESP2):c.1017dup (p.Gly340fs)duplication Uncertain significance 556463 rs772586292 15:90321383-90321384 15:89778152-89778153
34 MESP2 NM_001039958.2(MESP2):c.1144G>T (p.Glu382Ter)SNV Uncertain significance 550540 rs1317833419 15:90321515-90321515 15:89778284-89778284
35 MESP2 NM_001039958.2(MESP2):c.921C>G (p.Tyr307Ter)SNV Uncertain significance 552988 rs766664800 15:90320509-90320509 15:89777278-89777278
36 MESP2 NM_001039958.2(MESP2):c.948_949del (p.Cys317fs)deletion Uncertain significance 557438 rs757634059 15:90321319-90321320 15:89778088-89778089
37 MESP2 NM_001039958.2(MESP2):c.192_203dup (p.Glu65_Ala68dup)duplication Uncertain significance 549989 rs1468688261 15:90319773-90319774 15:89776542-89776543
38 MESP2 NM_001039958.2(MESP2):c.546_557del (p.180_181QG[11])deletion Uncertain significance 553672 rs397507446 15:90320123-90320134 15:89776892-89776903
39 MESP2 NM_001039958.2(MESP2):c.885G>C (p.Thr295=)SNV Likely benign 257248 rs761196555 15:90320473-90320473 15:89777242-89777242
40 MESP2 NM_001039958.2(MESP2):c.957G>A (p.Ser319=)SNV Likely benign 257250 rs752665246 15:90321328-90321328 15:89778097-89778097
41 MESP2 NM_001039958.2(MESP2):c.671C>T (p.Ser224Phe)SNV Benign/Likely benign 257247 rs71647807 15:90320259-90320259 15:89777028-89777028
42 MESP2 NM_001039958.2(MESP2):c.197C>G (p.Ala66Gly)SNV Benign/Likely benign 38906 rs71647809 15:90319785-90319785 15:89776554-89776554
43 MESP2 NM_001039958.1(MESP2):c.535_546[(2_4)] (p.Gly205_Arg206insGlnGlyGlnGly)NT expansion Benign 38910 rs397507446 15:90320123-90320134 15:89776892-89776903
44 MESP2 NM_001039958.2(MESP2):c.670T>C (p.Ser224Pro)SNV Benign 38911 rs118204033 15:90320258-90320258 15:89777027-89777027

Expression for Spondylocostal Dysostosis 2, Autosomal Recessive

Search GEO for disease gene expression data for Spondylocostal Dysostosis 2, Autosomal Recessive.

Pathways for Spondylocostal Dysostosis 2, Autosomal Recessive

GO Terms for Spondylocostal Dysostosis 2, Autosomal Recessive

Sources for Spondylocostal Dysostosis 2, Autosomal Recessive

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