MCID: MLT059
MIFTS: 35

Multiple Synostoses Syndrome 1

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

Aliases & Classifications for Multiple Synostoses Syndrome 1

MalaCards integrated aliases for Multiple Synostoses Syndrome 1:

Name: Multiple Synostoses Syndrome 1 54 50 24 71
Symphalangism-Brachydactyly Syndrome 24 71 29 69
Syns1 50 71 52
Deafness-Symphalangism Syndrome of Herrmann 50 71
Synostoses Multiple with Brachydactyly 50 71
Facioaudiosymphalangism Syndrome 50 71
Wl Syndrome 50 71
Synostoses, Multiple, with Brachydactyly 24
Symphalangism Brachydactyly Syndrome 50
Facioaudiosymphalangism 24

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
waddling gait
allelic to proximal symphalangism , stapes ankylosis syndrome without symphalangism , and tarsal-carpal coalition syndrome


HPO:

32
multiple synostoses syndrome 1:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Multiple Synostoses Syndrome 1

NIH Rare Diseases : 50 the following summary is from orphanet, a european reference portal for information on rare diseases and orphan drugs.orpha number: 3237disease definitionmultiple synostoses syndrome (mss) is a rare developmental bone disorder characterized by proximal symphalangism of the fingers and/or toes often associated with fusion of carpal and tarsal, humeroradial, and cervical spine joints.visit the orphanet disease page for more resources. last updated: 5/26/2014

MalaCards based summary : Multiple Synostoses Syndrome 1, also known as symphalangism-brachydactyly syndrome, is related to multiple synostoses syndrome and brachydactyly, and has symptoms including brachydactyly, strabismus and short philtrum. An important gene associated with Multiple Synostoses Syndrome 1 is NOG (Noggin), and among its related pathways/superpathways are Mesenchymal Stem Cell Differentiation Pathways and Lineage-specific Markers and TGF-beta signaling pathway (KEGG). Affiliated tissues include bone and skin, and related phenotypes are Lamellipodia cells and limbs/digits/tail

OMIM : 54
Multiple synostoses syndrome is characterized by multiple joint fusions, usually commencing in the hands, conductive deafness, and characteristic facial features, including a broad, tubular-shaped nose and a thin upper vermilion. Other features include brachydactyly, hypoplastic or absent middle phalanges, radial head dislocation, and pectus carinatum (summary by Takahashi et al., 2001). (186500)

UniProtKB/Swiss-Prot : 71 Multiple synostoses syndrome 1: 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 1

Diseases in the Multiple Synostoses Syndrome family:

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

Diseases related to Multiple Synostoses Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 multiple synostoses syndrome 10.9
2 brachydactyly 9.9
3 ankylosis 9.8
4 tarsal-carpal coalition syndrome 9.6 GDF5 NOG
5 thrombophilia due to heparin cofactor ii deficiency 9.6 GDF5 NOG
6 short qt syndrome 9.5 GDF5 NOG
7 congenital generalized lipodystrophy 9.5 GDF5 NOG
8 cerebral creatine deficiency syndrome 9.4 GDF5 NOG
9 osteopoikilosis 9.2 GDF5 NOG

Graphical network of the top 20 diseases related to Multiple Synostoses Syndrome 1:



Diseases related to Multiple Synostoses Syndrome 1

Symptoms & Phenotypes for Multiple Synostoses Syndrome 1

Symptoms via clinical synopsis from OMIM:

54

Skeletal- Hands:
brachydactyly
clinodactyly
single palmar creases
proximal symphalangism (2,3,4)
fusion of midphalangeal joints
more
Head And Neck- Face:
short philtrum
narrow face

Skeletal- Spine:
vertebral anomalies
spinal canal stenosis
hypoplastic spinal processes (cervical vertebrae)

Head And Neck- Nose:
hypoplastic alae nasi
hemicylindrical nose
hypoplastic nasal septum

Skin Nails & Hair- Skin:
single palmar creases
absence of skin creases over proximal interphalangeal (pip) joints
absence of skin creases over distal interphalangeal (dip) joints

Head And Neck- Ears:
stapes ankylosis
progressive conductive deafness

Head And Neck- Eyes:
strabismus

Chest- Ribs Sternum Clavicles And Scapulae:
pectus excavatum
short sternum
anteriorly positioned shoulders
prominent costochondral junction

Skeletal- Limbs:
cubitus valgus
dislocated radial head
short upper arms
limited forearm pronation/supination
short legs

Skeletal- Feet:
short feet
short halluces
tarsal fusions
cutaneous 2,3 toe syndactyly
absent distal phalanges
more
Head And Neck- Mouth:
thin vermilion border of upper lip

Skin Nails & Hair- Nails:
aplastic/hypoplastic fingernails
aplastic/hypoplastic toenails


Clinical features from OMIM:

186500

Human phenotypes related to Multiple Synostoses Syndrome 1:

32 (show all 38)
id Description HPO Frequency HPO Source Accession
1 brachydactyly 32 HP:0001156
2 strabismus 32 HP:0000486
3 short philtrum 32 HP:0000322
4 clinodactyly 32 HP:0030084
5 waddling gait 32 HP:0002515
6 pectus excavatum 32 HP:0000767
7 narrow face 32 HP:0000275
8 cubitus valgus 32 HP:0002967
9 short hallux 32 HP:0010109
10 absent distal interphalangeal creases 32 HP:0001032
11 anonychia 32 HP:0001798
12 tarsal synostosis 32 HP:0008368
13 2-3 toe syndactyly 32 HP:0004691
14 single transverse palmar crease 32 HP:0000954
15 dislocated radial head 32 HP:0003083
16 spinal canal stenosis 32 HP:0003416
17 thin upper lip vermilion 32 HP:0000219
18 carpal synostosis 32 HP:0009702
19 enlargement of the costochondral junction 32 HP:0000920
20 short lower limbs 32 HP:0006385
21 short sternum 32 HP:0000879
22 stapes ankylosis 32 HP:0000381
23 hypoplastic nasal septum 32 HP:0005104
24 fusion of midphalangeal joints 32 HP:0006187
25 absent distal phalanges 32 HP:0005807
26 short humerus 32 HP:0005792
27 abnormality of the vertebrae 32 HP:0003468
28 short foot 32 HP:0001773
29 underdeveloped nasal alae 32 HP:0000430
30 cutaneous finger syndactyly 32 HP:0010554
31 aplastic/hypoplastic toenail 32 HP:0010624
32 thick upper lip vermilion 32 HP:0000215
33 radial deviation of finger 32 HP:0009466
34 aplasia/hypoplasia of the middle phalanges of the hand 32 HP:0009843
35 lower limb undergrowth 32 HP:0009816
36 proximal symphalangism of hands 32 HP:0006152
37 hypoplastic spinal processes 32 HP:0008460
38 progressive conductive hearing impairment 32 HP:0008607

UMLS symptoms related to Multiple Synostoses Syndrome 1:


waddling gait

GenomeRNAi Phenotypes related to Multiple Synostoses Syndrome 1 according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Lamellipodia cells GR00165-A 8.62 GDF5 NOG

MGI Mouse Phenotypes related to Multiple Synostoses Syndrome 1:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 8.62 GDF5 NOG

Drugs & Therapeutics for Multiple Synostoses Syndrome 1

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions Completed NCT01322165

Search NIH Clinical Center for Multiple Synostoses Syndrome 1

Genetic Tests for Multiple Synostoses Syndrome 1

Genetic tests related to Multiple Synostoses Syndrome 1:

id Genetic test Affiliating Genes
1 Symphalangism-Brachydactyly Syndrome 29
2 Multiple Synostoses Syndrome 1 24 NOG

Anatomical Context for Multiple Synostoses Syndrome 1

MalaCards organs/tissues related to Multiple Synostoses Syndrome 1:

39
Bone, Skin

Publications for Multiple Synostoses Syndrome 1

Variations for Multiple Synostoses Syndrome 1

UniProtKB/Swiss-Prot genetic disease variations for Multiple Synostoses Syndrome 1:

71
id Symbol AA change Variation ID SNP ID
1 NOG p.Trp217Gly VAR_011363 rs104894603
2 NOG p.Cys232Trp VAR_064541 rs387906844

ClinVar genetic disease variations for Multiple Synostoses Syndrome 1:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 NOG NM_005450.4(NOG): c.649T> G (p.Trp217Gly) single nucleotide variant Pathogenic rs104894603 GRCh37 Chromosome 17, 54672233: 54672233
2 NOG NOG, 1-BP DEL deletion Pathogenic
3 NOG NOG, TRP205TER undetermined variant Pathogenic
4 NOG NM_005450.4(NOG): c.615G> C (p.Trp205Cys) single nucleotide variant Pathogenic rs104894615 GRCh37 Chromosome 17, 54672199: 54672199
5 GDF5 NM_000557.4(GDF5): c.-275T> C single nucleotide variant risk factor rs143383 GRCh37 Chromosome 20, 34025983: 34025983
6 NOG NM_005450.4(NOG): c.696C> G (p.Cys232Trp) single nucleotide variant Pathogenic rs387906844 GRCh37 Chromosome 17, 54672280: 54672280

Expression for Multiple Synostoses Syndrome 1

Search GEO for disease gene expression data for Multiple Synostoses Syndrome 1.

Pathways for Multiple Synostoses Syndrome 1

Pathways related to Multiple Synostoses Syndrome 1 according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 11.14 GDF5 NOG
2 10.88 GDF5 NOG
3 10.3 GDF5 NOG

GO Terms for Multiple Synostoses Syndrome 1

Biological processes related to Multiple Synostoses Syndrome 1 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cartilage development GO:0051216 8.62 GDF5 NOG

Sources for Multiple Synostoses Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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