MCID: MLT059
MIFTS: 25

Multiple Synostoses Syndrome 1 malady

Genetic diseases, Rare diseases, Ear diseases, Bone diseases, Fetal diseases categories

Aliases & Classifications for Multiple Synostoses Syndrome 1

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Aliases & Descriptions for Multiple Synostoses Syndrome 1:

Name: Multiple Synostoses Syndrome 1 49 45 22 67
Synostoses Multiple with Brachydactyly 45 22 67
Facioaudiosymphalangism Syndrome 45 22 67
Syns1 45 47 67
Deafness-Symphalangism Syndrome of Herrmann 45 67
 
Symphalangism Brachydactyly Syndrome 45 22
Wl Syndrome 45 67
Symphalangism-Brachydactyly Syndrome 67
Multiple Synostosis Syndrome 65


Classifications:



External Ids:

OMIM49 186500
MedGen34 C0342282
MeSH36 D013580

Summaries for Multiple Synostoses Syndrome 1

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OMIM:49 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 synostoses multiple with brachydactyly, is related to brachydactyly and ankylosis, and has symptoms including autosomal dominant inheritance, thick upper lip vermilion and thin upper lip vermilion. An important gene associated with Multiple Synostoses Syndrome 1 is NOG (Noggin). Affiliated tissues include bone and skin.

UniProtKB/Swiss-Prot:67 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
1brachydactyly10.2
2ankylosis10.2
3multiple synostoses syndrome10.1

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 39)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 thick upper lip vermilion HP:0000215
3 thin upper lip vermilion HP:0000219
4 narrow face HP:0000275
5 short philtrum HP:0000322
6 stapes ankylosis HP:0000381
7 underdeveloped nasal alae HP:0000430
8 strabismus HP:0000486
9 pectus excavatum HP:0000767
10 short sternum HP:0000879
11 enlargement of the costochondral junction HP:0000920
12 single transverse palmar crease HP:0000954
13 absent distal interphalangeal creases HP:0001032
14 brachydactyly syndrome HP:0001156
15 short foot HP:0001773
16 anonychia HP:0001798
17 waddling gait HP:0002515
18 cubitus valgus HP:0002967
19 dislocated radial head HP:0003083
20 spinal canal stenosis HP:0003416
21 abnormality of the vertebrae HP:0003468
22 2-3 toe syndactyly HP:0004691
23 hypoplastic nasal septum HP:0005104
24 short humerus HP:0005792
25 absent distal phalanges HP:0005807
26 proximal symphalangism (hands) HP:0006152
27 fusion of midphalangeal joints HP:0006187
28 short lower limbs HP:0006385
29 tarsal synostosis HP:0008368
30 hypoplastic spinal processes HP:0008460
31 progressive conductive hearing impairment HP:0008607
32 radial deviation of finger HP:0009466
33 carpal synostosis HP:0009702
34 lower limb undergrowth HP:0009816
35 aplasia/hypoplasia of the middle phalanges of the hand HP:0009843
36 short hallux HP:0010109
37 cutaneous finger syndactyly HP:0010554
38 aplastic/hypoplastic toenail HP:0010624
39 clinodactyly HP:0030084

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 Multiple Synostoses Syndrome 122 NOG

Anatomical Context for Multiple Synostoses Syndrome 1

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MalaCards organs/tissues related to Multiple Synostoses Syndrome 1:

33
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:

67
id Symbol AA change Variation ID SNP ID
1NOGp.Trp217GlyVAR_011363
2NOGp.Cys232TrpVAR_064541

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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet