Spondylocostal Dysostosis 2, Autosomal Recessive disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

SCDO2 MCID: SPN307 MIFTS: 20	Spondylocostal Dysostosis 2, Autosomal Recessive (SCDO2) Categories: Bone diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Rare diseases, Respiratory diseases
Genes Variations Tissues Related diseases Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Spondylocostal Dysostosis 2, Autosomal Recessive

MalaCards integrated aliases for Spondylocostal Dysostosis 2, Autosomal Recessive:

Name: Spondylocostal Dysostosis 2, Autosomal Recessive ⁵⁷ ⁷⁵

Spondylocostal Dysostosis, Autosomal Recessive 2 ¹³ ⁷³

Scdo2 ⁵⁷ ⁷⁵

Dysostosis, Spondylocostal, Autosomal Recessive, Type 2 ⁴⁰

Characteristics:

HPO:

³²

spondylocostal dysostosis 2, autosomal recessive:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Metabolic diseases
Anatomical: Bone diseases Respiratory diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 608681

MedGen ⁴² C1837549

MeSH ⁴⁴ D004413

SNOMED-CT via HPO ⁶⁹ 258211005 95427009 205455005

UMLS ⁷³ C1837549

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Summaries for Spondylocostal Dysostosis 2, Autosomal Recessive

UniProtKB/Swiss-Prot : ⁷⁵ 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, autosomal recessive 2, is related to spondylocostal dysostosis 2 and 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 bone and testes, and related phenotypes are short neck and recurrent respiratory infections

OMIM : ⁵⁷ 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)

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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
Spondylocostal Dysostosis 1	Spondylocostal Dysostosis 2
Spondylocostal Dysostosis 3	Spondylocostal Dysostosis 4

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 2	11.4
2	spondylocostal dysostosis, autosomal recessive	11.4

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Symptoms & Phenotypes for Spondylocostal Dysostosis 2, Autosomal Recessive

Clinical features from OMIM:

608681

Human phenotypes related to Spondylocostal Dysostosis 2, Autosomal Recessive:

³² (show all 6)

#	Description	HPO Frequency	HPO Source Accession
1	short neck ³²		HP:0000470
2	recurrent respiratory infections ³²		HP:0002205
3	disproportionate short-trunk short stature ³²		HP:0003521
4	vertebral segmentation defect ³²		HP:0003422
5	rib fusion ³²		HP:0000902
6	restrictive deficit on pulmonary function testing ³²	very rare (1%)	HP:0002111

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Drugs & Therapeutics for Spondylocostal Dysostosis 2, Autosomal Recessive

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

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Genetic Tests for Spondylocostal Dysostosis 2, Autosomal Recessive

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Anatomical Context for Spondylocostal Dysostosis 2, Autosomal Recessive

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

⁴¹

Bone, Testes

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Publications for Spondylocostal Dysostosis 2, Autosomal Recessive

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Genes for Spondylocostal Dysostosis 2, Autosomal Recessive

Genes related to Spondylocostal Dysostosis 2, Autosomal Recessive (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	MESP2	Mesoderm Posterior BHLH Transcription Factor 2	Protein Coding	918.37	Molecular basis known ⁵⁷ Pathogenic ⁶ GeneCards inferred via : Disorders (show sections)

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Variations for Spondylocostal Dysostosis 2, Autosomal Recessive

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

⁶ (show top 50) (show all 86)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	MESP2	NM_001039958.1(MESP2): c.500_503dupACCG (p.Gly169Profs)	duplication	Pathogenic	rs113994158	GRCh37	Chromosome 15, 90320088: 90320091
2	MESP2	NM_001039958.1(MESP2): c.500_503dupACCG (p.Gly169Profs)	duplication	Pathogenic	rs113994158	GRCh38	Chromosome 15, 89776857: 89776860
3	MESP2	NM_001039958.1(MESP2): c.307G> T (p.Glu103Ter)	single nucleotide variant	Pathogenic	rs71647808	GRCh37	Chromosome 15, 90319895: 90319895
4	MESP2	NM_001039958.1(MESP2): c.307G> T (p.Glu103Ter)	single nucleotide variant	Pathogenic	rs71647808	GRCh38	Chromosome 15, 89776664: 89776664
5	MESP2	NM_001039958.1(MESP2): c.373C> G (p.Leu125Val)	single nucleotide variant	Pathogenic	rs71647806	GRCh37	Chromosome 15, 90319961: 90319961
6	MESP2	NM_001039958.1(MESP2): c.373C> G (p.Leu125Val)	single nucleotide variant	Pathogenic	rs71647806	GRCh38	Chromosome 15, 89776730: 89776730
7	MESP2	NM_001039958.1(MESP2): c.700G> T (p.Glu234Ter)	single nucleotide variant	Pathogenic	rs118204035	GRCh37	Chromosome 15, 90320288: 90320288
8	MESP2	NM_001039958.1(MESP2): c.700G> T (p.Glu234Ter)	single nucleotide variant	Pathogenic	rs118204035	GRCh38	Chromosome 15, 89777057: 89777057
9	MESP2	NM_001039958.1(MESP2): c.197C> G (p.Ala66Gly)	single nucleotide variant	Benign/Likely benign	rs71647809	GRCh37	Chromosome 15, 90319785: 90319785
10	MESP2	NM_001039958.1(MESP2): c.197C> G (p.Ala66Gly)	single nucleotide variant	Benign/Likely benign	rs71647809	GRCh38	Chromosome 15, 89776554: 89776554
11	MESP2	NM_001039958.1(MESP2): c.241G> T (p.Gly81Ter)	single nucleotide variant	Likely pathogenic	rs118204034	GRCh37	Chromosome 15, 90319829: 90319829
12	MESP2	NM_001039958.1(MESP2): c.241G> T (p.Gly81Ter)	single nucleotide variant	Likely pathogenic	rs118204034	GRCh38	Chromosome 15, 89776598: 89776598
13	MESP2	NM_001039958.1(MESP2): c.271A> G (p.Lys91Glu)	single nucleotide variant	Pathogenic	rs113994156	GRCh37	Chromosome 15, 90319859: 90319859
14	MESP2	NM_001039958.1(MESP2): c.271A> G (p.Lys91Glu)	single nucleotide variant	Pathogenic	rs113994156	GRCh38	Chromosome 15, 89776628: 89776628
15	MESP2	NM_001039958.1(MESP2): c.385A> T (p.Ile129Phe)	single nucleotide variant	Pathogenic	rs113994157	GRCh37	Chromosome 15, 90319973: 90319973
16	MESP2	NM_001039958.1(MESP2): c.385A> T (p.Ile129Phe)	single nucleotide variant	Pathogenic	rs113994157	GRCh38	Chromosome 15, 89776742: 89776742
17	MESP2	NM_001039958.1(MESP2): c.535_546[(2_4)] (p.Gly205_Arg206insGlnGlyGlnGly)	NT expansion	Benign	rs397507446	GRCh37	Chromosome 15, 90320123: 90320134
18	MESP2	NM_001039958.1(MESP2): c.535_546[(2_4)] (p.Gly205_Arg206insGlnGlyGlnGly)	NT expansion	Benign	rs397507446	GRCh38	Chromosome 15, 89776892: 89776903
19	MESP2	NM_001039958.1(MESP2): c.670T> C (p.Ser224Pro)	single nucleotide variant	Benign	rs118204033	GRCh37	Chromosome 15, 90320258: 90320258
20	MESP2	NM_001039958.1(MESP2): c.670T> C (p.Ser224Pro)	single nucleotide variant	Benign	rs118204033	GRCh38	Chromosome 15, 89777027: 89777027
21	MESP2	NM_001039958.1(MESP2): c.671C> T (p.Ser224Phe)	single nucleotide variant	Benign/Likely benign	rs71647807	GRCh38	Chromosome 15, 89777028: 89777028
22	MESP2	NM_001039958.1(MESP2): c.671C> T (p.Ser224Phe)	single nucleotide variant	Benign/Likely benign	rs71647807	GRCh37	Chromosome 15, 90320259: 90320259
23	MESP2	NM_001039958.1(MESP2): c.885G> C (p.Thr295=)	single nucleotide variant	Likely benign	rs761196555	GRCh38	Chromosome 15, 89777242: 89777242
24	MESP2	NM_001039958.1(MESP2): c.885G> C (p.Thr295=)	single nucleotide variant	Likely benign	rs761196555	GRCh37	Chromosome 15, 90320473: 90320473
25	MESP2	NM_001039958.1(MESP2): c.957G> A (p.Ser319=)	single nucleotide variant	Likely benign	rs752665246	GRCh38	Chromosome 15, 89778097: 89778097
26	MESP2	NM_001039958.1(MESP2): c.957G> A (p.Ser319=)	single nucleotide variant	Likely benign	rs752665246	GRCh37	Chromosome 15, 90321328: 90321328
27	MESP2	NM_001039958.1(MESP2): c.11C> A (p.Ser4Ter)	single nucleotide variant	Likely pathogenic		GRCh37	Chromosome 15, 90319599: 90319599
28	MESP2	NM_001039958.1(MESP2): c.11C> A (p.Ser4Ter)	single nucleotide variant	Likely pathogenic		GRCh38	Chromosome 15, 89776368: 89776368
29	MESP2	NM_001039958.1(MESP2): c.186_197dup (p.Ala68_Thr69insGluAlaAlaAla)	duplication	Uncertain significance		GRCh37	Chromosome 15, 90319773: 90319773
30	MESP2	NM_001039958.1(MESP2): c.186_197dup (p.Ala68_Thr69insGluAlaAlaAla)	duplication	Uncertain significance		GRCh38	Chromosome 15, 89776543: 89776554
31	MESP2	NM_001039958.1(MESP2): c.546_557del12 (p.Gln202_Gly205del)	deletion	Uncertain significance		GRCh37	Chromosome 15, 90320122: 90320134
32	MESP2	NM_001039958.1(MESP2): c.546_557del12 (p.Gln202_Gly205del)	deletion	Uncertain significance		GRCh38	Chromosome 15, 89776903: 89776914
33	MESP2	NM_001039958.1(MESP2): c.586C> T (p.Gln196Ter)	single nucleotide variant	Likely pathogenic		GRCh37	Chromosome 15, 90320174: 90320174
34	MESP2	NM_001039958.1(MESP2): c.586C> T (p.Gln196Ter)	single nucleotide variant	Likely pathogenic		GRCh38	Chromosome 15, 89776943: 89776943
35	MESP2	NM_001039958.1(MESP2): c.921C> G (p.Tyr307Ter)	single nucleotide variant	Uncertain significance	rs766664800	GRCh37	Chromosome 15, 90320509: 90320509
36	MESP2	NM_001039958.1(MESP2): c.921C> G (p.Tyr307Ter)	single nucleotide variant	Uncertain significance	rs766664800	GRCh38	Chromosome 15, 89777278: 89777278
37	MESP2	NM_001039958.1(MESP2): c.948_949delCT (p.Cys317Serfs)	deletion	Uncertain significance		GRCh37	Chromosome 15, 90321318: 90321320
38	MESP2	NM_001039958.1(MESP2): c.948_949delCT (p.Cys317Serfs)	deletion	Uncertain significance		GRCh38	Chromosome 15, 89778088: 89778089
39	MESP2	NM_001039958.1(MESP2): c.48G> A (p.Trp16Ter)	single nucleotide variant	Likely pathogenic	rs912110093	GRCh37	Chromosome 15, 90319636: 90319636
40	MESP2	NM_001039958.1(MESP2): c.48G> A (p.Trp16Ter)	single nucleotide variant	Likely pathogenic	rs912110093	GRCh38	Chromosome 15, 89776405: 89776405
41	MESP2	NM_001039958.1(MESP2): c.250C> T (p.Gln84Ter)	single nucleotide variant	Likely pathogenic	rs762067626	GRCh37	Chromosome 15, 90319838: 90319838
42	MESP2	NM_001039958.1(MESP2): c.250C> T (p.Gln84Ter)	single nucleotide variant	Likely pathogenic	rs762067626	GRCh38	Chromosome 15, 89776607: 89776607
43	MESP2	NM_001039958.1(MESP2): c.997A> T (p.Arg333Ter)	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 15, 90321368: 90321368
44	MESP2	NM_001039958.1(MESP2): c.997A> T (p.Arg333Ter)	single nucleotide variant	Uncertain significance		GRCh38	Chromosome 15, 89778137: 89778137
45	MESP2	NM_001039958.1(MESP2): c.258_261delCAGC (p.Glu88Glyfs)	deletion	Likely pathogenic		GRCh37	Chromosome 15, 90319843: 90319847
46	MESP2	NM_001039958.1(MESP2): c.258_261delCAGC (p.Glu88Glyfs)	deletion	Likely pathogenic		GRCh38	Chromosome 15, 89776615: 89776618
47	MESP2	NM_001039958.1(MESP2): c.343_344dup (p.Gly116Profs)	duplication	Likely pathogenic		GRCh37	Chromosome 15, 90319930: 90319930
48	MESP2	NM_001039958.1(MESP2): c.343_344dup (p.Gly116Profs)	duplication	Likely pathogenic		GRCh38	Chromosome 15, 89776700: 89776701
49	MESP2	NM_001039958.1(MESP2): c.1017dup (p.Gly340Argfs)	duplication	Uncertain significance		GRCh37	Chromosome 15, 90321383: 90321383
50	MESP2	NM_001039958.1(MESP2): c.1017dup (p.Gly340Argfs)	duplication	Uncertain significance		GRCh38	Chromosome 15, 89778157: 89778157

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Expression for Spondylocostal Dysostosis 2, Autosomal Recessive

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

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Pathways for Spondylocostal Dysostosis 2, Autosomal Recessive

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GO Terms for Spondylocostal Dysostosis 2, Autosomal Recessive

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Spondylocostal Dysostosis 2, Autosomal Recessive (SCDO2)

Aliases & Classifications for Spondylocostal Dysostosis 2, Autosomal Recessive

MalaCards integrated aliases for Spondylocostal Dysostosis 2, Autosomal Recessive:

Characteristics:

HPO:

Classifications:

External Ids:

Summaries for Spondylocostal Dysostosis 2, Autosomal Recessive

Related Diseases for Spondylocostal Dysostosis 2, Autosomal Recessive

Diseases in the Spondylocostal Dysostosis, Autosomal Recessive family:

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

Symptoms & Phenotypes for Spondylocostal Dysostosis 2, Autosomal Recessive

Clinical features from OMIM:

Human phenotypes related to Spondylocostal Dysostosis 2, Autosomal Recessive:

Drugs & Therapeutics for Spondylocostal Dysostosis 2, Autosomal Recessive

Genetic Tests for Spondylocostal Dysostosis 2, Autosomal Recessive

Anatomical Context for Spondylocostal Dysostosis 2, Autosomal Recessive

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

Publications for Spondylocostal Dysostosis 2, Autosomal Recessive

Genes for Spondylocostal Dysostosis 2, Autosomal Recessive

Genes related to Spondylocostal Dysostosis 2, Autosomal Recessive (1 elite genes):

Variations for Spondylocostal Dysostosis 2, Autosomal Recessive

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

Expression 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