Multiple Synostoses Syndrome 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Multiple Synostoses Syndrome 2

MalaCards integrated aliases for Multiple Synostoses Syndrome 2:

Name: Multiple Synostoses Syndrome 2 ⁵⁷ ¹⁹ ⁷³ ²⁸ ⁵ ⁷¹

Syns2 ⁵⁷ ¹⁹ ⁷³

Characteristics:

Inheritance:

Autosomal dominant ⁵⁷

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Ear diseases Smell/Taste diseases Bone diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM® ⁵⁷ 610017

OMIM Phenotypic Series ⁵⁷ PS186500

MeSH ⁴³ D013580

MedGen ⁴⁰ C1832708

SNOMED-CT via HPO ⁶⁹ 205329008 249321001 249808002 more

UMLS ⁷¹ C1832708

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Summaries for Multiple Synostoses Syndrome 2

OMIM®: ⁵⁷ Multiple synostoses syndrome-2 (SYNS2) is an autosomal dominant disorder characterized by progressive joint fusions of the fingers, wrists, ankles, and cervical spine; characteristic facies, including a broad hemicylindrical nose; and progressive conductive hearing loss (summary by Dawson et al., 2006). For a general phenotypic description and a discussion of genetic heterogeneity of multiple synostoses syndrome, see SYNS1 (186500). (610017) (Updated 08-Dec-2022)

MalaCards based summary: Multiple Synostoses Syndrome 2, also known as syns2, is related to brachydactyly, type a1 and contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a. An important gene associated with Multiple Synostoses Syndrome 2 is GDF5 (Growth Differentiation Factor 5). Affiliated tissues include bone, and related phenotypes are talipes equinovarus and brachydactyly

GARD: ¹⁹ Multiple synostoses syndrome-2 (SYNS2) is an autosomal dominant disorder characterized by progressive joint fusions of the fingers, wrists, ankles, and cervical spine; characteristic facies, including a broad hemicylindrical nose; and progressive conductive hearing loss (summary by Dawson et al., 2006).For a general phenotypic description and a discussion of genetic heterogeneity of multiple synostoses syndrome, see SYNS1 (186500).

UniProtKB/Swiss-Prot: ⁷³ A bone disease characterized by multiple progressive joint fusions that commonly involve proximal interphalangeal, tarsal-carpal, humeroradial and cervical spine joints. Additional features can include progressive conductive deafness and facial dysmorphism.

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Related Diseases for Multiple Synostoses Syndrome 2

Diseases in the Multiple Synostoses Syndrome family:

Multiple Synostoses Syndrome 1	Multiple Synostoses Syndrome 2
Multiple Synostoses Syndrome 3	Multiple Synostoses Syndrome 4

Diseases related to Multiple Synostoses Syndrome 2 via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	brachydactyly, type a1	10.0
2	contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a	10.0
3	brachydactyly	10.0
4	multiple synostoses syndrome	10.0
5	symphalangism, proximal, 1b	9.7	GDF5-AS1 GDF5
6	brachydactyly, type a1, c	9.7	GDF5-AS1 GDF5
7	acromesomelic dysplasia 2a	9.7	GDF5-AS1 GDF5
8	acromesomelic dysplasia 2b	9.6	GDF5-AS1 GDF5
9	brachydactyly, type c	9.6	GDF5-AS1 GDF5
10	brachydactyly, type a2	9.5	GDF5-AS1 GDF5

Graphical network of the top 20 diseases related to Multiple Synostoses Syndrome 2:

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Symptoms & Phenotypes for Multiple Synostoses Syndrome 2

Human phenotypes related to Multiple Synostoses Syndrome 2:

³⁰ (show all 9)

#	Description	HPO Frequency	HPO Source Accession
1	talipes equinovarus ³⁰	Occasional (7.5%)	HP:0001762
2	brachydactyly ³⁰		HP:0001156
3	vertebral fusion ³⁰		HP:0002948
4	wide nose ³⁰		HP:0000445
5	carpal synostosis ³⁰		HP:0009702
6	humeroradial synostosis ³⁰		HP:0003041
7	finger symphalangism ³⁰		HP:0009700
8	proximal symphalangism ³⁰		HP:0100264
9	tarsal synostosis ³⁰		HP:0008368

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Skeletal Hands:
brachydactyly
proximal symphalangism
carpal fusions
carpal coalition
progressive symphalangism

Skeletal Feet:
talipes equinovarus (in some patients)
tarsal fusions
tarsal coalition

Head And Neck Nose:
broad hemicyclindrical nose

Skeletal Limbs:
humeroradial synostosis

Skeletal Spine:
vertebral fusions

Clinical features from OMIM®:

610017 (Updated 08-Dec-2022)

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Drugs & Therapeutics for Multiple Synostoses Syndrome 2

Search Clinical Trials, NIH Clinical Center for Multiple Synostoses Syndrome 2

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Genetic Tests for Multiple Synostoses Syndrome 2

Genetic tests related to Multiple Synostoses Syndrome 2:

#	Genetic test	Affiliating Genes
1	Multiple Synostoses Syndrome 2 ²⁸	GDF5

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Anatomical Context for Multiple Synostoses Syndrome 2

Organs/tissues related to Multiple Synostoses Syndrome 2:

MalaCards : Bone

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Publications for Multiple Synostoses Syndrome 2

Articles related to Multiple Synostoses Syndrome 2:

#	Title	Authors	PMID	Year
1	GDF5 is a second locus for multiple-synostosis syndrome. ⁵⁷ ⁵	Dawson K...Krakow D	16532400	2006
2	Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2. ⁵	Seemann P...Mundlos S	16127465	2005
3	Improved bone defect healing by a superagonistic GDF5 variant derived from a patient with multiple synostoses syndrome. ⁶²	Degenkolbe E...Seemann P	25543012	2015
4	A GDF5 point mutation strikes twice--causing BDA1 and SYNS2. ⁶²	Degenkolbe E...Seemann P	24098149	2013

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Genes for Multiple Synostoses Syndrome 2

Genes related to Multiple Synostoses Syndrome 2 (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	GDF5	Growth Differentiation Factor 5	Protein Coding	1307.83	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative variation ⁷³ Genetic Tests ²⁸ GeneCards inferred via : Disorders (show sections)	16127465 16532400
2	GDF5-AS1	GDF5 Antisense RNA 1	RNA Gene	400	Pathogenic ⁵	16127465 16532400

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Variations for Multiple Synostoses Syndrome 2

ClinVar genetic disease variations for Multiple Synostoses Syndrome 2:

⁵ (show all 41)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	GDF5-AS1, GDF5	NM_000557.5(GDF5):c.1313G>T (p.Arg438Leu)	SNV	Pathogenic	8386	rs74315388	GRCh37: 20:34021900-34021900 GRCh38: 20:35434102-35434102
2	GDF5-AS1, GDF5	NM_000557.5(GDF5):c.1424G>A (p.Ser475Asn)	SNV	Pathogenic	8388	rs121909347	GRCh37: 20:34021789-34021789 GRCh38: 20:35433991-35433991
3	LOC109461476, GDF5	NM_000557.5(GDF5):c.-220C>T	SNV	Uncertain Significance	338327	rs886056643	GRCh37: 20:34025928-34025928 GRCh38: 20:35438148-35438148
4	GDF5	NM_000557.5(GDF5):c.226G>T (p.Ala76Ser)	SNV	Uncertain Significance	895672	rs768978933	GRCh37: 20:34025483-34025483 GRCh38: 20:35437703-35437703
5	LOC109461476, GDF5	NM_000557.5(GDF5):c.-97T>C	SNV	Uncertain Significance	895743	rs960967052	GRCh37: 20:34025805-34025805 GRCh38: 20:35438025-35438025
6	GDF5-AS1, GDF5	NM_000557.5(GDF5):c.*166G>A	SNV	Uncertain Significance	338315	rs569761315	GRCh37: 20:34021541-34021541 GRCh38: 20:35433743-35433743
7	GDF5	NM_000557.5(GDF5):c.506C>A (p.Pro169His)	SNV	Uncertain Significance	895610	rs2062477372	GRCh37: 20:34025203-34025203 GRCh38: 20:35437423-35437423
8	GDF5	NM_000557.5(GDF5):c.182G>A (p.Gly61Glu)	SNV	Uncertain Significance	897084	rs1601074882	GRCh37: 20:34025527-34025527 GRCh38: 20:35437747-35437747
9	GDF5-AS1, GDF5	NM_000557.5(GDF5):c.1374C>G (p.Pro458=)	SNV	Uncertain Significance	896867	rs776415223	GRCh37: 20:34021839-34021839 GRCh38: 20:35434041-35434041
10	GDF5	NM_000557.5(GDF5):c.483G>A (p.Pro161=)	SNV	Uncertain Significance	897014	rs752789551	GRCh37: 20:34025226-34025226 GRCh38: 20:35437446-35437446
11	GDF5	NM_000557.5(GDF5):c.57G>T (p.Leu19=)	SNV	Uncertain Significance	897561	rs746980493	GRCh37: 20:34025652-34025652 GRCh38: 20:35437872-35437872
12	GDF5	NM_000557.5(GDF5):c.25T>C (p.Phe9Leu)	SNV	Uncertain Significance	595155	rs373973964	GRCh37: 20:34025684-34025684 GRCh38: 20:35437904-35437904
13	LOC109461476, GDF5	NM_000557.5(GDF5):c.-236G>A	SNV	Uncertain Significance	898778	rs1190526111	GRCh37: 20:34025944-34025944 GRCh38: 20:35438164-35438164
14	GDF5-AS1, GDF5	NM_000557.5(GDF5):c.1067A>G (p.Asn356Ser)	SNV	Uncertain Significance	895535	rs367914931	GRCh37: 20:34022146-34022146 GRCh38: 20:35434348-35434348
15	GDF5-AS1, GDF5	NM_000557.5(GDF5):c.1104C>T (p.Thr368=)	SNV	Likely Benign	338317	rs748907807	GRCh37: 20:34022109-34022109 GRCh38: 20:35434311-35434311
16	GDF5	NM_000557.5(GDF5):c.206C>G (p.Ala69Gly)	SNV	Likely Benign	895673	rs542574339	GRCh37: 20:34025503-34025503 GRCh38: 20:35437723-35437723
17	GDF5	NM_000557.5(GDF5):c.168C>A (p.Asn56Lys)	SNV	Likely Benign	338323	rs199666386	GRCh37: 20:34025541-34025541 GRCh38: 20:35437761-35437761
18	GDF5-AS1, GDF5	NM_000557.5(GDF5):c.*259G>C	SNV	Benign	895466	rs150833046	GRCh37: 20:34021448-34021448 GRCh38: 20:35433650-35433650
19	GDF5	NM_000557.5(GDF5):c.631+6G>A	SNV	Benign	895609	rs768697784	GRCh37: 20:34025072-34025072 GRCh38: 20:35437292-35437292
20	LOC109461476, GDF5	NM_000557.5(GDF5):c.-134C>G	SNV	Benign	896024	rs144924248	GRCh37: 20:34025842-34025842 GRCh38: 20:35438062-35438062
21	LOC109461476, GDF5	NM_000557.5(GDF5):c.-39C>T	SNV	Benign	338325	rs149907722	GRCh37: 20:34025747-34025747 GRCh38: 20:35437967-35437967
22	GDF5-AS1, GDF5	NM_000557.5(GDF5):c.*387T>C	SNV	Benign	338312	rs553655935	GRCh37: 20:34021320-34021320 GRCh38: 20:35433522-35433522
23	GDF5-AS1, GDF5	NM_000557.5(GDF5):c.*335A>C	SNV	Benign	338313	rs73611720	GRCh37: 20:34021372-34021372 GRCh38: 20:35433574-35433574
24	GDF5-AS1, GDF5	NM_000557.5(GDF5):c.*389C>T	SNV	Benign	338311	rs535023630	GRCh37: 20:34021318-34021318 GRCh38: 20:35433520-35433520
25	GDF5-AS1, GDF5	NM_000557.5(GDF5):c.*193G>T	SNV	Benign	338314	rs114832948	GRCh37: 20:34021514-34021514 GRCh38: 20:35433716-35433716
26	LOC109461476, GDF5	NM_000557.5(GDF5):c.-48=	SNV	Benign	256712	rs143384	GRCh37: 20:34025756-34025756 GRCh38: 20:35437976-35437976
27	GDF5-AS1, GDF5	NM_000557.5(GDF5):c.*520T>C	SNV	Benign	338309	rs188252641	GRCh37: 20:34021187-34021187 GRCh38: 20:35433389-35433389
28	LOC109461476, GDF5	NM_000557.5(GDF5):c.-135G>A	SNV	Benign	338326	rs73094730	GRCh37: 20:34025843-34025843 GRCh38: 20:35438063-35438063
29	GDF5-AS1, GDF5	NM_000557.5(GDF5):c.*425T>C	SNV	Benign	338310	rs56366915	GRCh37: 20:34021282-34021282 GRCh38: 20:35433484-35433484
30	GDF5	NM_000557.5(GDF5):c.462C>A (p.Pro154=)	SNV	Benign	193119	rs150686636	GRCh37: 20:34025247-34025247 GRCh38: 20:35437467-35437467
31	GDF5-AS1, GDF5	NM_000557.5(GDF5):c.*468G>A	SNV	Benign	895403	rs79051206	GRCh37: 20:34021239-34021239 GRCh38: 20:35433441-35433441
32	GDF5-AS1, GDF5	NM_000557.5(GDF5):c.855C>T (p.Gly285=)	SNV	Benign	338320	rs149593773	GRCh37: 20:34022358-34022358 GRCh38: 20:35434560-35434560
33	GDF5	NM_000557.5(GDF5):c.652A>C (p.Arg218=)	SNV	Benign	284616	rs116467702	GRCh37: 20:34022561-34022561 GRCh38: 20:35434763-35434763
34	GDF5	NM_000557.5(GDF5):c.349G>T (p.Ala117Ser)	SNV	Benign	338322	rs151149144	GRCh37: 20:34025360-34025360 GRCh38: 20:35437580-35437580
35	LOC109461476, GDF5	NM_000557.5(GDF5):c.-275=	SNV	Benign	8390	rs143383	GRCh37: 20:34025983-34025983 GRCh38: 20:35438203-35438203
36	GDF5-AS1, GDF5	NM_000557.5(GDF5):c.1128G>T (p.Gln376His)	SNV	Benign	338316	rs138130158	GRCh37: 20:34022085-34022085 GRCh38: 20:35434287-35434287
37	GDF5-AS1, GDF5	NM_000557.5(GDF5):c.1017= (p.Lys339=)	SNV	Benign	256713	rs224330	GRCh37: 20:34022196-34022196 GRCh38: 20:35434398-35434398
38	GDF5-AS1, GDF5	NM_000557.5(GDF5):c.826= (p.Ala276=)	SNV	Benign	256716	rs224331	GRCh37: 20:34022387-34022387 GRCh38: 20:35434589-35434589
39	GDF5-AS1, GDF5	NM_000557.5(GDF5):c.953G>C (p.Arg318Pro)	SNV	Benign	338319	rs201590447	GRCh37: 20:34022260-34022260 GRCh38: 20:35434462-35434462
40	GDF5	NM_000557.5(GDF5):c.497C>A (p.Pro166His)	SNV	Benign	338321	rs61754581	GRCh37: 20:34025212-34025212 GRCh38: 20:35437432-35437432
41	GDF5-AS1, GDF5	NM_000557.5(GDF5):c.1000C>G (p.Arg334Gly)	SNV	Benign	338318	rs140895068	GRCh37: 20:34022213-34022213 GRCh38: 20:35434415-35434415

UniProtKB/Swiss-Prot genetic disease variations for Multiple Synostoses Syndrome 2:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	GDF5	p.Leu441Pro	VAR_017408	rs28936683
2	GDF5	p.Arg438Leu	VAR_026545	rs74315388
3	GDF5	p.Ser475Asn	VAR_037982	rs121909347
4	GDF5	p.Trp414Arg	VAR_073141
5	GDF5	p.Asn445Lys	VAR_073142
6	GDF5	p.Asn445Thr	VAR_073143

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Expression for Multiple Synostoses Syndrome 2

Search GEO for disease gene expression data for Multiple Synostoses Syndrome 2.

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Pathways for Multiple Synostoses Syndrome 2

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GO Terms for Multiple Synostoses Syndrome 2

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Sources for Multiple Synostoses Syndrome 2

¹ BitterDB

² CDC

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⁸ Cosmic

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¹⁰ DGIdb

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²⁰ GeneAnalytics

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²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

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³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

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³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

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⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

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⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

SYNS2 MCID: MLT060 MIFTS: 28	Multiple Synostoses Syndrome 2 (SYNS2) Categories: Bone diseases, Ear diseases, Fetal diseases, Genetic diseases, Rare diseases, Smell/Taste diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

Multiple Synostoses Syndrome 2 (SYNS2)

Aliases & Classifications for Multiple Synostoses Syndrome 2

MalaCards integrated aliases for Multiple Synostoses Syndrome 2:

Characteristics:

Inheritance:

Classifications:

External Ids:

Summaries for Multiple Synostoses Syndrome 2

Related Diseases for Multiple Synostoses Syndrome 2

Diseases in the Multiple Synostoses Syndrome family:

Diseases related to Multiple Synostoses Syndrome 2 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Multiple Synostoses Syndrome 2:

Symptoms & Phenotypes for Multiple Synostoses Syndrome 2

Human phenotypes related to Multiple Synostoses Syndrome 2:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Multiple Synostoses Syndrome 2

Genetic Tests for Multiple Synostoses Syndrome 2

Genetic tests related to Multiple Synostoses Syndrome 2:

Anatomical Context for Multiple Synostoses Syndrome 2

Organs/tissues related to Multiple Synostoses Syndrome 2:

Publications for Multiple Synostoses Syndrome 2

Articles related to Multiple Synostoses Syndrome 2:

Genes for Multiple Synostoses Syndrome 2

Genes related to Multiple Synostoses Syndrome 2 (2 elite genes):

Variations for Multiple Synostoses Syndrome 2

ClinVar genetic disease variations for Multiple Synostoses Syndrome 2:

UniProtKB/Swiss-Prot genetic disease variations for Multiple Synostoses Syndrome 2:

Expression for Multiple Synostoses Syndrome 2

Pathways for Multiple Synostoses Syndrome 2

GO Terms for Multiple Synostoses Syndrome 2

Sources for Multiple Synostoses Syndrome 2