MCID: MLT059
MIFTS: 33

Multiple Synostoses Syndrome 1 malady

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

Aliases & Classifications for Multiple Synostoses Syndrome 1

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Aliases & Descriptions for Multiple Synostoses Syndrome 1:

Name: Multiple Synostoses Syndrome 1 52 48 24 70
Symphalangism-Brachydactyly Syndrome 24 70 68
Syns1 48 70 50
Deafness-Symphalangism Syndrome of Herrmann 48 70
Synostoses Multiple with Brachydactyly 48 70
Facioaudiosymphalangism Syndrome 48 70
 
Wl Syndrome 48 70
Synostoses, Multiple, with Brachydactyly 24
Symphalangism Brachydactyly Syndrome 48
Brachydactyly-Symphalangism Syndrome 27
Facioaudiosymphalangism 24

Characteristics:

HPO:

64
multiple synostoses syndrome 1:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 186500
MedGen37 C0342282
MeSH39 D013580

Summaries for Multiple Synostoses Syndrome 1

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OMIM:52 Multiple synostoses syndrome is characterized by multiple joint fusions, usually commencing in the hands, conductive... (186500) more...

MalaCards based summary: Multiple Synostoses Syndrome 1, also known as symphalangism-brachydactyly syndrome, is related to multiple synostoses syndrome and brachydactyly-distal symphalangism syndrome, and has symptoms including thick upper lip vermilion, thin upper lip vermilion and narrow face. An important gene associated with Multiple Synostoses Syndrome 1 is NOG (Noggin), and among its related pathways is Mesenchymal Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include bone and skin, and related mouse phenotypes are Lamellipodia cells and limbs/digits/tail.

UniProtKB/Swiss-Prot:70 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

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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:

idRelated DiseaseScoreTop Affiliating Genes
1multiple synostoses syndrome11.1
2brachydactyly-distal symphalangism syndrome11.0
3herrmann syndrome10.9
4brachydactyly9.9
5ankylosis9.8
6glutamate formiminotransferase deficiency9.5GDF5, NOG
7congenital generalized lipodystrophy9.5GDF5, NOG
8short qt syndrome9.5GDF5, NOG
9cerebral creatine deficiency syndrome9.3GDF5, NOG

Graphical network of diseases related to Multiple Synostoses Syndrome 1:



Diseases related to multiple synostoses syndrome 1

Symptoms & Phenotypes for Multiple Synostoses Syndrome 1

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Symptoms by clinical synopsis from OMIM:

186500

Clinical features from OMIM:

186500

Human phenotypes related to Multiple Synostoses Syndrome 1:

 64 (show all 38)
id Description HPO Frequency HPO Source Accession
1 thick upper lip vermilion64 HP:0000215
2 thin upper lip vermilion64 HP:0000219
3 narrow face64 HP:0000275
4 short philtrum64 HP:0000322
5 stapes ankylosis64 HP:0000381
6 underdeveloped nasal alae64 HP:0000430
7 strabismus64 HP:0000486
8 pectus excavatum64 HP:0000767
9 short sternum64 HP:0000879
10 enlargement of the costochondral junction64 HP:0000920
11 single transverse palmar crease64 HP:0000954
12 absent distal interphalangeal creases64 HP:0001032
13 brachydactyly syndrome64 HP:0001156
14 short foot64 HP:0001773
15 anonychia64 HP:0001798
16 waddling gait64 HP:0002515
17 cubitus valgus64 HP:0002967
18 dislocated radial head64 HP:0003083
19 spinal canal stenosis64 HP:0003416
20 abnormality of the vertebrae64 HP:0003468
21 2-3 toe syndactyly64 HP:0004691
22 hypoplastic nasal septum64 HP:0005104
23 short humerus64 HP:0005792
24 absent distal phalanges64 HP:0005807
25 proximal symphalangism of hands64 HP:0006152
26 fusion of midphalangeal joints64 HP:0006187
27 short lower limbs64 HP:0006385
28 tarsal synostosis64 HP:0008368
29 hypoplastic spinal processes64 HP:0008460
30 progressive conductive hearing impairment64 HP:0008607
31 radial deviation of finger64 HP:0009466
32 carpal synostosis64 HP:0009702
33 lower limb undergrowth64 HP:0009816
34 aplasia/hypoplasia of the middle phalanges of the hand64 HP:0009843
35 short hallux64 HP:0010109
36 cutaneous finger syndactyly64 HP:0010554
37 aplastic/hypoplastic toenail64 HP:0010624
38 clinodactyly64 HP:0030084

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
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00165-A9.8GDF5, NOG

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

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.1GDF5, NOG

Drugs & Therapeutics for Multiple Synostoses Syndrome 1

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Interventional clinical trials:

idNameStatusNCT IDPhase
1A Trial to Evaluate the Safety, Local Tolerability, Pharmacokinetics and Pharmacodynamics of LDE225 on Skin Basal Cell Carcinomas in Gorlin Syndrome PatientsCompletedNCT00961896Phase 2
2National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular ConditionsCompletedNCT01322165

Search NIH Clinical Center for Multiple Synostoses Syndrome 1

Genetic Tests for Multiple Synostoses Syndrome 1

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Genetic tests related to Multiple Synostoses Syndrome 1:

id Genetic test Affiliating Genes
1 Symphalangism-Brachydactyly Syndrome27
2 Multiple Synostoses Syndrome 124 NOG

Anatomical Context for Multiple Synostoses Syndrome 1

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MalaCards organs/tissues related to Multiple Synostoses Syndrome 1:

36
Bone, Skin

Publications for Multiple Synostoses Syndrome 1

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Variations for Multiple Synostoses Syndrome 1

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

70
id Symbol AA change Variation ID SNP ID
1NOGp.Trp217GlyVAR_011363rs104894603
2NOGp.Cys232TrpVAR_064541rs387906844

Clinvar genetic disease variations for Multiple Synostoses Syndrome 1:

5
id Gene Variation Type Significance SNP ID Assembly Location
1NOGNM_005450.4(NOG): c.696C> G (p.Cys232Trp)SNVPathogenicrs387906844GRCh37Chr 17, 54672280: 54672280
2NOGNM_005450.4(NOG): c.649T> G (p.Trp217Gly)SNVPathogenicrs104894603GRCh37Chr 17, 54672233: 54672233
3NOGNOG, 1-BP DELdeletionPathogenicChr na, -1: -1
4NOGNOG, TRP205TERundetermined variantPathogenicChr na, -1: -1
5NOGNM_005450.4(NOG): c.615G> C (p.Trp205Cys)SNVPathogenicrs104894615GRCh37Chr 17, 54672199: 54672199
6GDF5NM_000557.4(GDF5): c.-275T> CSNVrisk factorrs143383GRCh37Chr 20, 34025983: 34025983

Expression for genes affiliated with Multiple Synostoses Syndrome 1

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

Pathways for genes affiliated with Multiple Synostoses Syndrome 1

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

idSuper pathwaysScoreTop Affiliating Genes
19.1GDF5, NOG

GO Terms for genes affiliated with Multiple Synostoses Syndrome 1

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Sources for Multiple Synostoses Syndrome 1

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet