SCDO2
MCID: SPN307
MIFTS: 25

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

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 scdo2, 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). Related phenotypes are restrictive ventilatory defect 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 ventilatory defect 31 very rare (1%) HP:0002091
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, Autosomal Recessive 29 MESP2

Anatomical Context for Spondylocostal Dysostosis 2, Autosomal Recessive

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 top 50) (show all 81) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# 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.737G>A (p.Trp246Ter)SNV Likely pathogenic 554365 rs1555439152 15:90320325-90320325 15:89777094-89777094
16 MESP2 NM_001039958.2(MESP2):c.116C>A (p.Ser39Ter)SNV Likely pathogenic 555826 rs1206731716 15:90319704-90319704 15:89776473-89776473
17 MESP2 NM_001039958.2(MESP2):c.249_256dup (p.Ala86fs)duplication Likely pathogenic 557590 rs1555439049 15:90319832-90319833 15:89776601-89776602
18 MESP2 NM_001039958.2(MESP2):c.349C>T (p.Gln117Ter)SNV Likely pathogenic 551651 rs1555439063 15:90319937-90319937 15:89776706-89776706
19 MESP2 NM_001039958.2(MESP2):c.189C>G (p.Ala63=)SNV Conflicting interpretations of pathogenicity 751329 15:90319777-90319777 15:89776546-89776546
20 MESP2 NM_001039958.2(MESP2):c.517G>A (p.Ala173Thr)SNV Conflicting interpretations of pathogenicity 845537 15:90320105-90320105 15:89776874-89776874
21 MESP2 NM_001039958.2(MESP2):c.957G>A (p.Ser319=)SNV Conflicting interpretations of pathogenicity 257250 rs752665246 15:90321328-90321328 15:89778097-89778097
22 MESP2 NM_001039958.2(MESP2):c.1080C>T (p.Ala360=)SNV Conflicting interpretations of pathogenicity 317395 rs762014488 15:90321451-90321451 15:89778220-89778220
23 MESP2 NM_001039958.2(MESP2):c.561G>A (p.Gly187=)SNV Conflicting interpretations of pathogenicity 317388 rs767474985 15:90320149-90320149 15:89776918-89776918
24 MESP2 NM_001039958.2(MESP2):c.573G>A (p.Gly191=)SNV Conflicting interpretations of pathogenicity 317389 rs113097169 15:90320161-90320161 15:89776930-89776930
25 MESP2 NM_001039958.2(MESP2):c.168T>G (p.Pro56=)SNV Conflicting interpretations of pathogenicity 714558 15:90319756-90319756 15:89776525-89776525
26 MESP2 NM_001039958.2(MESP2):c.185G>A (p.Arg62Gln)SNV Conflicting interpretations of pathogenicity 317385 rs566641514 15:90319773-90319773 15:89776542-89776542
27 MESP2 NM_001039958.2(MESP2):c.554G>C (p.Gly185Ala)SNV Uncertain significance 317386 rs764078106 15:90320142-90320142 15:89776911-89776911
28 MESP2 NM_001039958.2(MESP2):c.585A>G (p.Gly195=)SNV Uncertain significance 317390 rs113636330 15:90320173-90320173 15:89776942-89776942
29 MESP2 NM_001039958.2(MESP2):c.597A>G (p.Gly199=)SNV Uncertain significance 317391 rs778503063 15:90320185-90320185 15:89776954-89776954
30 MESP2 NM_001039958.2(MESP2):c.602G>A (p.Gly201Glu)SNV Uncertain significance 317392 rs377023417 15:90320190-90320190 15:89776959-89776959
31 MESP2 NM_001039958.2(MESP2):c.791G>A (p.Gly264Glu)SNV Uncertain significance 317394 rs886051546 15:90320379-90320379 15:89777148-89777148
32 MESP2 NM_001039958.2(MESP2):c.*101G>CSNV Uncertain significance 317396 rs761831896 15:90321666-90321666 15:89778435-89778435
33 MESP2 NM_001039958.2(MESP2):c.*182C>TSNV Uncertain significance 317399 rs553766281 15:90321747-90321747 15:89778516-89778516
34 MESP2 NM_001039958.2(MESP2):c.*210C>GSNV Uncertain significance 317400 rs886051548 15:90321775-90321775 15:89778544-89778544
35 MESP2 NM_001039958.2(MESP2):c.*107T>CSNV Uncertain significance 317397 rs187988937 15:90321672-90321672 15:89778441-89778441
36 MESP2 NM_001039958.2(MESP2):c.556C>G (p.Gln186Glu)SNV Uncertain significance 317387 rs776642665 15:90320144-90320144 15:89776913-89776913
37 MESP2 NM_001039958.2(MESP2):c.218G>T (p.Arg73Leu)SNV Uncertain significance 887534 15:90319806-90319806 15:89776575-89776575
38 MESP2 NM_001039958.2(MESP2):c.682G>A (p.Gly228Arg)SNV Uncertain significance 886400 15:90320270-90320270 15:89777039-89777039
39 MESP2 NM_001039958.2(MESP2):c.1017C>G (p.Pro339=)SNV Uncertain significance 886401 15:90321388-90321388 15:89778157-89778157
40 MESP2 NM_001039958.2(MESP2):c.1063G>A (p.Asp355Asn)SNV Uncertain significance 886402 15:90321434-90321434 15:89778203-89778203
41 MESP2 NM_001039958.2(MESP2):c.1073C>T (p.Pro358Leu)SNV Uncertain significance 887405 15:90321444-90321444 15:89778213-89778213
42 MESP2 NM_001039958.2(MESP2):c.*10G>ASNV Uncertain significance 887406 15:90321575-90321575 15:89778344-89778344
43 MESP2 NM_001039958.2(MESP2):c.*50G>ASNV Uncertain significance 887407 15:90321615-90321615 15:89778384-89778384
44 MESP2 NM_001039958.2(MESP2):c.*118G>ASNV Uncertain significance 887408 15:90321683-90321683 15:89778452-89778452
45 MESP2 NM_001039958.2(MESP2):c.*169G>ASNV Uncertain significance 887409 15:90321734-90321734 15:89778503-89778503
46 MESP2 NM_001039958.2(MESP2):c.*229T>CSNV Uncertain significance 887588 15:90321794-90321794 15:89778563-89778563
47 MESP2 NM_001039958.2(MESP2):c.*318G>ASNV Uncertain significance 887589 15:90321883-90321883 15:89778652-89778652
48 MESP2 NM_001039958.2(MESP2):c.547_556del (p.Gly183Argfs)deletion Uncertain significance 557578 rs1555439104 15:90320135-90320144 15:89776904-89776913
49 MESP2 NM_001039958.2(MESP2):c.558_593del (p.180_181QG[7])deletion Uncertain significance 552837 rs771492607 15:90320138-90320173 15:89776907-89776942
50 MESP2 NM_001039958.2(MESP2):c.600_605del (p.180_181QG[12])deletion Uncertain significance 554295 rs1555439121 15:90320186-90320191 15:89776955-89776960

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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