SYNS1
MCID: MLT059
MIFTS: 15

Multiple Synostoses Syndrome 1 (SYNS1) malady

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

Summaries for Multiple Synostoses Syndrome 1

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34MalaCards
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MalaCards: Multiple Synostoses Syndrome 1, also known as symphalangism brachydactyly syndrome, is related to brachydactyly and ankylosis. An important gene associated with Multiple Synostoses Syndrome 1 is NOG (noggin).

Aliases & Classifications for Multiple Synostoses Syndrome 1

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Sources:
44NIH Rare Diseases, 21GeneTests, 23GTR, 46Novoseek
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Ear diseases, Bone diseases


Aliases & Descriptions:

multiple synostoses syndrome 1 44 21
symphalangism brachydactyly syndrome 44 23
syns1 44 46
deafness-symphalangism syndrome of herrmann 44
synostoses multiple with brachydactyly 44
facioaudiosymphalangism syndrome 44
wl syndrome 44


Related Diseases for Multiple Synostoses Syndrome 1

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18GeneCards, 19GeneDecks
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Diseases in the Multiple Synostoses Syndrome 2 family:

Multiple Synostoses Syndrome multiple synostoses syndrome 1
Multiple Synostoses Syndrome 3

Diseases related to Multiple Synostoses Syndrome 1 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1brachydactyly10.2
2ankylosis10.1
3multiple synostosis syndrome 110.1

Symptoms for Multiple Synostoses Syndrome 1

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Drugs & Therapeutics for Multiple Synostoses Syndrome 1

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Multiple Synostoses Syndrome 1

Drug clinical trials:

Search ClinicalTrials for Multiple Synostoses Syndrome 1

Search NIH Clinical Center for Multiple Synostoses Syndrome 1

Search CenterWatch for Multiple Synostoses Syndrome 1

Genetic Tests for Multiple Synostoses Syndrome 1

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21GeneTests, 23GTR
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Genetic tests related to Multiple Synostoses Syndrome 1:

id Genetic test Affiliating Genes
1 Multiple Synostoses Syndrome 121 NOG
2 Symphalangism-Brachydactyly Syndrome23

Anatomical Context for Multiple Synostoses Syndrome 1

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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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Sources:
1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Multiple Synostoses Syndrome 1:

1
id Gene Name 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
3NOGNM_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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Sources:
16Gene Expression Omnibus DataSets
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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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Compounds 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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Products for genes affiliated with Multiple Synostoses Syndrome 1

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Multiple Synostoses Syndrome 1

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet