MCID: MLT059
MIFTS: 27

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 50 46 23 68
Symphalangism-Brachydactyly Syndrome 23 68 66
Syns1 46 68 48
Deafness-Symphalangism Syndrome of Herrmann 46 68
Synostoses Multiple with Brachydactyly 46 68
Facioaudiosymphalangism Syndrome 46 68
 
Wl Syndrome 46 68
Synostoses, Multiple, with Brachydactyly 23
Symphalangism Brachydactyly Syndrome 46
Brachydactyly-Symphalangism Syndrome 25
Facioaudiosymphalangism 23

Characteristics:

HPO:

62
multiple synostoses syndrome 1:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 186500
MedGen35 C0342282
MeSH37 D013580

Summaries for Multiple Synostoses Syndrome 1

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OMIM:50 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 waddling gait, waddling gait and thick upper lip vermilion. An important gene associated with Multiple Synostoses Syndrome 1 is NOG (Noggin). Affiliated tissues include bone and skin.

UniProtKB/Swiss-Prot:68 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 syndrome11.2
2brachydactyly-distal symphalangism syndrome11.1
3herrmann syndrome11.0
4brachydactyly10.0
5ankylosis10.0

Graphical network of diseases related to Multiple Synostoses Syndrome 1:



Diseases related to multiple synostoses syndrome 1

Symptoms for Multiple Synostoses Syndrome 1

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Symptoms by clinical synopsis from OMIM:

186500

Clinical features from OMIM:

186500

HPO human phenotypes related to Multiple Synostoses Syndrome 1:

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

UMLS symptoms related to Multiple Synostoses Syndrome 1:


waddling gait

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 ConditionsActive, not recruitingNCT01322165

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 Syndrome25
2 Multiple Synostoses Syndrome 123 NOG

Anatomical Context for Multiple Synostoses Syndrome 1

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MalaCards organs/tissues related to Multiple Synostoses Syndrome 1:

34
Bone, Skin

Animal Models for Multiple Synostoses Syndrome 1 or affiliated genes

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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:

68
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)single nucleotide variantPathogenicrs387906844GRCh37Chr 17, 54672280: 54672280
2NOGNM_005450.4(NOG): c.649T> G (p.Trp217Gly)single nucleotide variantPathogenicrs104894603GRCh37Chr 17, 54672233: 54672233
3NOGNOG, 1-BP DELdeletionPathogenic
4NOGNOG, TRP205TERundetermined variantPathogenic
5NOGNM_005450.4(NOG): c.615G> C (p.Trp205Cys)single nucleotide variantPathogenicrs104894615GRCh37Chr 17, 54672199: 54672199

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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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
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet