MCID: MLT059
MIFTS: 34

Multiple Synostoses Syndrome 1

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

Aliases & Classifications for Multiple Synostoses Syndrome 1

MalaCards integrated aliases for Multiple Synostoses Syndrome 1:

Name: Multiple Synostoses Syndrome 1 53 49 71
Symphalangism-Brachydactyly Syndrome 53 71 28 69
Syns1 53 49 71 51
Deafness-Symphalangism Syndrome of Herrmann 53 49 71
Facioaudiosymphalangism Syndrome 53 49 71
Wl Syndrome 53 49 71
Synostoses Multiple with Brachydactyly 49 71
Synostoses, Multiple, with Brachydactyly 53
Symphalangism Brachydactyly Syndrome 49

Characteristics:

OMIM:

53
Miscellaneous:
waddling gait
allelic to proximal symphalangism , stapes ankylosis syndrome without symphalangism , and tarsal-carpal coalition syndrome

Inheritance:
autosomal dominant


HPO:

31
multiple synostoses syndrome 1:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Multiple Synostoses Syndrome 1

NIH Rare Diseases : 49 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 waddling gait, pectus excavatum and clinodactyly. 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 : 53 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 1 Multiple Synostoses Syndrome 2
Multiple Synostoses Syndrome 3

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

# Related Disease Score Top Affiliating Genes
1 multiple synostoses syndrome 31.3 GDF5 NOG
2 brachydactyly 29.2 GDF5 NOG
3 photomyoclonus, diabetes mellitus, deafness, nephropathy, and cerebral dysfunction 11.5
4 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
5 ankylosis 9.9
6 fibular hypoplasia and complex brachydactyly 9.7 GDF5 NOG
7 proximal symphalangism 9.6 GDF5 NOG
8 synostosis 9.5 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:

53
Chest RibsSternum Clavicles And Scapulae:
pectus excavatum
short sternum
anteriorly positioned shoulders
prominent costochondral junction

Head And Neck Eyes:
strabismus

Head And Neck Face:
short philtrum
narrow face

Skeletal Feet:
absent distal phalanges
short feet
short halluces
tarsal fusions
cutaneous 2,3 toe syndactyly
more
Head And Neck Ears:
stapes ankylosis
progressive conductive deafness

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

Skeletal Hands:
clinodactyly
brachydactyly
proximal symphalangism (2,3,4)
fusion of midphalangeal joints
cutaneous syndactyly (2,3,4)
more
Skeletal Limbs:
cubitus valgus
dislocated radial head
short legs
short upper arms
limited forearm pronation/supination

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

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

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:

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

25
# 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:

43
# 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

Search Clinical Trials , NIH Clinical Center for Multiple Synostoses Syndrome 1

Genetic Tests for Multiple Synostoses Syndrome 1

Genetic tests related to Multiple Synostoses Syndrome 1:

# Genetic test Affiliating Genes
1 Symphalangism-Brachydactyly Syndrome 28 NOG

Anatomical Context for Multiple Synostoses Syndrome 1

MalaCards organs/tissues related to Multiple Synostoses Syndrome 1:

38
Bone, Skin

Publications for Multiple Synostoses Syndrome 1

Articles related to Multiple Synostoses Syndrome 1:

# Title Authors Year
1
Symphalangism and brachydactyly syndrome: report of the WL symphalangism-brachydactyly syndrome: review of literature and classification. ( 4469994 )
1974

Variations for Multiple Synostoses Syndrome 1

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

71
# 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
# Gene Variation Type Significance SNP ID Assembly Location
1 GDF5 NM_000557.4(GDF5): c.-275T> C single nucleotide variant risk factor rs143383 GRCh37 Chromosome 20, 34025983: 34025983
2 NOG NM_005450.4(NOG): c.696C> G (p.Cys232Trp) single nucleotide variant Pathogenic rs387906844 GRCh37 Chromosome 17, 54672280: 54672280
3 NOG NM_005450.4(NOG): c.649T> G (p.Trp217Gly) single nucleotide variant Pathogenic rs104894603 GRCh37 Chromosome 17, 54672233: 54672233
4 NOG NOG, 1-BP DEL deletion Pathogenic
5 NOG NOG, TRP205TER undetermined variant Pathogenic
6 NOG NM_005450.4(NOG): c.615G> C (p.Trp205Cys) single nucleotide variant Pathogenic rs104894615 GRCh37 Chromosome 17, 54672199: 54672199

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:

# 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:

# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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