MCID: MLT059
MIFTS: 26

Multiple Synostoses Syndrome 1 malady

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

Aliases & Classifications for Multiple Synostoses Syndrome 1

About this section

Aliases & Descriptions for Multiple Synostoses Syndrome 1:

Name: Multiple Synostoses Syndrome 1 49 45 22 67
Symphalangism-Brachydactyly Syndrome 22 67 65
Syns1 45 47 67
Deafness-Symphalangism Syndrome of Herrmann 45 67
Synostoses Multiple with Brachydactyly 45 67
Facioaudiosymphalangism Syndrome 45 67
 
Wl Syndrome 45 67
Synostoses, Multiple, with Brachydactyly 22
Symphalangism Brachydactyly Syndrome 45
Brachydactyly-Symphalangism Syndrome 24
Facioaudiosymphalangism 22

Characteristics:

HPO:

61
multiple synostoses syndrome 1:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 186500
MedGen34 C0342282
MeSH36 D013580
UMLS65 C0342282

Summaries for Multiple Synostoses Syndrome 1

About this section
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 symphalangism-brachydactyly syndrome, is related to multiple synostoses syndrome and sillence syndrome, and has symptoms including clinodactyly, aplastic/hypoplastic toenail and cutaneous finger syndactyly. 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

About this section

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 syndrome11.6
2sillence syndrome11.5
3herrmann syndrome11.4

Symptoms for Multiple Synostoses Syndrome 1

About this section

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

Drugs & Therapeutics for Multiple Synostoses Syndrome 1

About this section

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

About this section

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

About this section

MalaCards organs/tissues related to Multiple Synostoses Syndrome 1:

33
Bone, Skin

Animal Models for Multiple Synostoses Syndrome 1 or affiliated genes

About this section

Publications for Multiple Synostoses Syndrome 1

About this section

Variations for Multiple Synostoses Syndrome 1

About this section

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

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

Pathways for genes affiliated with Multiple Synostoses Syndrome 1

About this section

GO Terms for genes affiliated with Multiple Synostoses Syndrome 1

About this section

Sources for Multiple Synostoses Syndrome 1

About this section
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