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

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
Genes Variations Tissues Related diseases Publications 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 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:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁶ 608681

OMIM Phenotypic Series ⁵⁶ PS277300

MeSH ⁴³ D004413

MedGen ⁴¹ C1837549

SNOMED-CT via HPO ⁶⁸ 205455005 258211005 68359008 more

UMLS ⁷¹ C1837549

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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)

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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

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

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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

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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

Genetic tests related to Spondylocostal Dysostosis 2, Autosomal Recessive:

#	Genetic test	Affiliating Genes
1	Spondylocostal Dysostosis 2 ²⁹	MESP2

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Anatomical Context for Spondylocostal Dysostosis 2, Autosomal Recessive

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

⁴⁰

Testes, Bone

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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	Cornier AS...Pourquie O	18485326	2008
2	Mutated MESP2 causes spondylocostal dysostosis in humans. ⁵⁶ ⁶	Whittock NV...Turnpenny PD	15122512	2004
3	Spondylocostal Dysostosis, Autosomal Recessive ⁶	Turnpenny PD...ICVS (International Consortium for Vertebral Anomalies and Scoliosis)	20301771	2009
4	Phenotype characterization and natural history of spondylothoracic dysplasia syndrome: a series of 27 new cases. ⁵⁶	Cornier AS...Korf B	15214000	2004
5	Two novel missense mutations in HAIRY-AND-ENHANCER-OF-SPLIT-7 in a family with spondylocostal dysostosis. ⁶¹	Sparrow DB...Dunwoodie SL	20087400	2010
6	Mutation of Hairy-and-Enhancer-of-Split-7 in humans causes spondylocostal dysostosis. ⁶¹	Sparrow DB...Dunwoodie SL	18775957	2008

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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	1008.33	Molecular basis known ⁵⁶ Pathogenic ⁶ Genetic Tests ²⁹ GeneCards inferred via : Disorders (show sections)	15122512 20301771 18485326

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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

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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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Sources for Spondylocostal Dysostosis 2, Autosomal Recessive

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⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Spondylocostal Dysostosis 2, Autosomal Recessive (SCDO2)

Aliases & Classifications for Spondylocostal Dysostosis 2, Autosomal Recessive

MalaCards integrated aliases for Spondylocostal Dysostosis 2, Autosomal Recessive:

Characteristics:

OMIM:

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

Human phenotypes related to Spondylocostal Dysostosis 2, Autosomal Recessive:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Spondylocostal Dysostosis 2, Autosomal Recessive

Genetic Tests for Spondylocostal Dysostosis 2, Autosomal Recessive

Genetic tests related to 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

Articles related to 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