SYNS2
MCID: MLT060
MIFTS: 28

Multiple Synostoses Syndrome 2 (SYNS2)

Categories: Bone diseases, Ear diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Multiple Synostoses Syndrome 2

MalaCards integrated aliases for Multiple Synostoses Syndrome 2:

Name: Multiple Synostoses Syndrome 2 57 20 72 29 13 6 70
Syns2 57 20 72
Synostoses Syndrome, Multiple, Type 2 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
multiple synostoses syndrome 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 610017
OMIM Phenotypic Series 57 PS186500
MeSH 44 D013580
MedGen 41 C1832708
UMLS 70 C1832708

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 05-Apr-2021)

MalaCards based summary : Multiple Synostoses Syndrome 2, also known as syns2, is related to brachydactyly, type a1 and multiple synostoses syndrome. An important gene associated with Multiple Synostoses Syndrome 2 is GDF5 (Growth Differentiation Factor 5). Related phenotypes are talipes equinovarus and brachydactyly

UniProtKB/Swiss-Prot : 72 Multiple synostoses syndrome 2: 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.

Related Diseases for Multiple Synostoses Syndrome 2

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



Diseases related to Multiple Synostoses Syndrome 2

Symptoms & Phenotypes for Multiple Synostoses Syndrome 2

Human phenotypes related to Multiple Synostoses Syndrome 2:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 talipes equinovarus 31 occasional (7.5%) HP:0001762
2 brachydactyly 31 HP:0001156
3 vertebral fusion 31 HP:0002948
4 wide nose 31 HP:0000445
5 tarsal synostosis 31 HP:0008368
6 carpal synostosis 31 HP:0009702
7 humeroradial synostosis 31 HP:0003041
8 finger symphalangism 31 HP:0009700
9 proximal symphalangism 31 HP:0100264

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 05-Apr-2021)

Drugs & Therapeutics for Multiple Synostoses Syndrome 2

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

Genetic Tests for Multiple Synostoses Syndrome 2

Genetic tests related to Multiple Synostoses Syndrome 2:

# Genetic test Affiliating Genes
1 Multiple Synostoses Syndrome 2 29 GDF5

Anatomical Context for Multiple Synostoses Syndrome 2

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. 6 57
16532400 2006
2
Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2. 6
16127465 2005
3
Improved bone defect healing by a superagonistic GDF5 variant derived from a patient with multiple synostoses syndrome. 61
25543012 2015
4
A GDF5 point mutation strikes twice--causing BDA1 and SYNS2. 61
24098149 2013

Variations for Multiple Synostoses Syndrome 2

ClinVar genetic disease variations for Multiple Synostoses Syndrome 2:

6 (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 GDF5 NM_000557.5(GDF5):c.226G>T (p.Ala76Ser) SNV Uncertain significance 895672 GRCh37: 20:34025483-34025483
GRCh38: 20:35437703-35437703
4 LOC109461476 , GDF5 NM_000557.5(GDF5):c.-220C>T SNV Uncertain significance 338327 rs886056643 GRCh37: 20:34025928-34025928
GRCh38: 20:35438148-35438148
5 GDF5 NM_000557.5(GDF5):c.506C>A (p.Pro169His) SNV Uncertain significance 895610 GRCh37: 20:34025203-34025203
GRCh38: 20:35437423-35437423
6 GDF5 NM_000557.5(GDF5):c.182G>A (p.Gly61Glu) SNV Uncertain significance 897084 GRCh37: 20:34025527-34025527
GRCh38: 20:35437747-35437747
7 GDF5-AS1 , GDF5 NM_000557.5(GDF5):c.1374C>G (p.Pro458=) SNV Uncertain significance 896867 GRCh37: 20:34021839-34021839
GRCh38: 20:35434041-35434041
8 GDF5 NM_000557.5(GDF5):c.483G>A (p.Pro161=) SNV Uncertain significance 897014 GRCh37: 20:34025226-34025226
GRCh38: 20:35437446-35437446
9 GDF5 NM_000557.5(GDF5):c.57G>T (p.Leu19=) SNV Uncertain significance 897561 GRCh37: 20:34025652-34025652
GRCh38: 20:35437872-35437872
10 GDF5 NM_000557.5(GDF5):c.25T>C (p.Phe9Leu) SNV Uncertain significance 595155 rs373973964 GRCh37: 20:34025684-34025684
GRCh38: 20:35437904-35437904
11 LOC109461476 , GDF5 NM_000557.5(GDF5):c.-236G>A SNV Uncertain significance 898778 GRCh37: 20:34025944-34025944
GRCh38: 20:35438164-35438164
12 GDF5-AS1 , GDF5 NM_000557.5(GDF5):c.*166G>A SNV Uncertain significance 338315 rs569761315 GRCh37: 20:34021541-34021541
GRCh38: 20:35433743-35433743
13 LOC109461476 , GDF5 NM_000557.5(GDF5):c.-97T>C SNV Uncertain significance 895743 GRCh37: 20:34025805-34025805
GRCh38: 20:35438025-35438025
14 GDF5-AS1 , GDF5 NM_000557.5(GDF5):c.1067A>G (p.Asn356Ser) SNV Uncertain significance 895535 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 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.1000C>G (p.Arg334Gly) SNV Benign 338318 rs140895068 GRCh37: 20:34022213-34022213
GRCh38: 20:35434415-35434415
19 GDF5-AS1 , GDF5 NM_000557.5(GDF5):c.*259G>C SNV Benign 895466 GRCh37: 20:34021448-34021448
GRCh38: 20:35433650-35433650
20 GDF5 NM_000557.5(GDF5):c.631+6G>A SNV Benign 895609 GRCh37: 20:34025072-34025072
GRCh38: 20:35437292-35437292
21 GDF5-AS1 , GDF5 NM_000557.5(GDF5):c.855C>T (p.Gly285=) SNV Benign 338320 rs149593773 GRCh37: 20:34022358-34022358
GRCh38: 20:35434560-35434560
22 GDF5 NM_000557.5(GDF5):c.462C>A (p.Pro154=) SNV Benign 193119 rs150686636 GRCh37: 20:34025247-34025247
GRCh38: 20:35437467-35437467
23 LOC109461476 , GDF5 NM_000557.5(GDF5):c.-39C>T SNV Benign 338325 rs149907722 GRCh37: 20:34025747-34025747
GRCh38: 20:35437967-35437967
24 GDF5-AS1 , GDF5 NM_000557.5(GDF5):c.*387T>C SNV Benign 338312 rs553655935 GRCh37: 20:34021320-34021320
GRCh38: 20:35433522-35433522
25 GDF5-AS1 , GDF5 NM_000557.5(GDF5):c.*335A>C SNV Benign 338313 rs73611720 GRCh37: 20:34021372-34021372
GRCh38: 20:35433574-35433574
26 GDF5-AS1 , GDF5 NM_000557.5(GDF5):c.1128G>T (p.Gln376His) SNV Benign 338316 rs138130158 GRCh37: 20:34022085-34022085
GRCh38: 20:35434287-35434287
27 GDF5-AS1 , GDF5 NM_000557.5(GDF5):c.1017= (p.Lys339=) SNV Benign 256713 rs224330 GRCh37: 20:34022196-34022196
GRCh38: 20:35434398-35434398
28 GDF5-AS1 , GDF5 NM_000557.5(GDF5):c.826= (p.Ala276=) SNV Benign 256716 rs224331 GRCh37: 20:34022387-34022387
GRCh38: 20:35434589-35434589
29 GDF5-AS1 , GDF5 NM_000557.5(GDF5):c.*389C>T SNV Benign 338311 rs535023630 GRCh37: 20:34021318-34021318
GRCh38: 20:35433520-35433520
30 GDF5 NM_000557.5(GDF5):c.652A>C (p.Arg218=) SNV Benign 284616 rs116467702 GRCh37: 20:34022561-34022561
GRCh38: 20:35434763-35434763
31 GDF5-AS1 , GDF5 NM_000557.5(GDF5):c.*193G>T SNV Benign 338314 rs114832948 GRCh37: 20:34021514-34021514
GRCh38: 20:35433716-35433716
32 GDF5 NM_000557.5(GDF5):c.349G>T (p.Ala117Ser) SNV Benign 338322 rs151149144 GRCh37: 20:34025360-34025360
GRCh38: 20:35437580-35437580
33 LOC109461476 , GDF5 NM_000557.5(GDF5):c.-48= SNV Benign 256712 rs143384 GRCh37: 20:34025756-34025756
GRCh38: 20:35437976-35437976
34 GDF5-AS1 , GDF5 NM_000557.5(GDF5):c.953G>C (p.Arg318Pro) SNV Benign 338319 rs201590447 GRCh37: 20:34022260-34022260
GRCh38: 20:35434462-35434462
35 GDF5 NM_000557.5(GDF5):c.497C>A (p.Pro166His) SNV Benign 338321 rs61754581 GRCh37: 20:34025212-34025212
GRCh38: 20:35437432-35437432
36 LOC109461476 , GDF5 NM_000557.5(GDF5):c.-275= SNV Benign 8390 rs143383 GRCh37: 20:34025983-34025983
GRCh38: 20:35438203-35438203
37 GDF5-AS1 , GDF5 NM_000557.5(GDF5):c.*520T>C SNV Benign 338309 rs188252641 GRCh37: 20:34021187-34021187
GRCh38: 20:35433389-35433389
38 LOC109461476 , GDF5 NM_000557.5(GDF5):c.-135G>A SNV Benign 338326 rs73094730 GRCh37: 20:34025843-34025843
GRCh38: 20:35438063-35438063
39 GDF5-AS1 , GDF5 NM_000557.5(GDF5):c.*425T>C SNV Benign 338310 rs56366915 GRCh37: 20:34021282-34021282
GRCh38: 20:35433484-35433484
40 LOC109461476 , GDF5 NM_000557.5(GDF5):c.-134C>G SNV Benign 896024 GRCh37: 20:34025842-34025842
GRCh38: 20:35438062-35438062
41 GDF5-AS1 , GDF5 NM_000557.5(GDF5):c.*468G>A SNV Benign 895403 GRCh37: 20:34021239-34021239
GRCh38: 20:35433441-35433441

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

72
# 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

Expression for Multiple Synostoses Syndrome 2

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

Pathways for Multiple Synostoses Syndrome 2

GO Terms for Multiple Synostoses Syndrome 2

Sources for Multiple Synostoses Syndrome 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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