MCID: MLT059
MIFTS: 21

Multiple Synostoses Syndrome 1 malady

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

Aliases & Classifications for Multiple Synostoses Syndrome 1

About this section
Sources:
45OMIM, 41NIH Rare Diseases, 20GeneTests, 60UMLS, 43Novoseek
See all sources

Multiple Synostoses Syndrome 1, Aliases & Descriptions:

Name: Multiple Synostoses Syndrome 1 45 41 20
Syns1 41 43
Deafness - Symphalangism Syndrome, Hermann Type 41
Deafness-Symphalangism Syndrome of Herrmann 41
Synostoses Multiple with Brachydactyly 41
Symphalangism Brachydactyly Syndrome 41
 
Facioaudiosymphalangism Syndrome 41
Symphalangism - Brachydactyly 41
Multiple Synostoses Syndrome 41
Multiple Synostosis Syndrome 60
Facio-Audio-Symphalangism 41
Wl Syndrome 41


Classifications:



External Ids:

OMIM45 186500

Summaries for Multiple Synostoses Syndrome 1

About this section


MalaCards based summary: Multiple Synostoses Syndrome 1, also known as syns1, is related to multiple synostoses syndrome and multiple synostoses syndrome 2, 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).

Description from OMIM:45 186500

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 syndrome10.7
2multiple synostoses syndrome 210.7
3multiple synostoses syndrome 310.6
4symphalangism brachydactyly craniosynostosis10.4
5ankylosis10.2
6brachydactyly10.2

Graphical network of diseases related to Multiple Synostoses Syndrome 1:



Diseases related to multiple synostoses syndrome 1

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 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 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 (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

Drugs & Therapeutics for Multiple Synostoses Syndrome 1

About this section

Drug clinical trials:

Search ClinicalTrials for Multiple Synostoses Syndrome 1

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 120 NOG

Anatomical Context for Multiple Synostoses Syndrome 1

About this section

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:

62
id Symbol AA change Variation ID SNP ID
1NOGp.Trp217GlyVAR_011363
2NOGp.Cys232TrpVAR_064541

Clinvar genetic disease variations for Multiple Synostoses Syndrome 1:

6
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

Compounds for genes affiliated with Multiple Synostoses Syndrome 1

About this section

GO Terms for genes affiliated with Multiple Synostoses Syndrome 1

About this section

Products for genes affiliated with Multiple Synostoses Syndrome 1

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Multiple Synostoses Syndrome 1

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet