SYNS1
MCID: MLT059
MIFTS: 15

Multiple Synostoses Syndrome 1 (SYNS1) malady

Genetic diseases, Rare diseases, Ear diseases, Bone diseases categories
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Summaries for Multiple Synostoses Syndrome 1

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33MalaCards
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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:
43NIH Rare Diseases, 20GeneTests, 22GTR, 45Novoseek
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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 43 20
symphalangism brachydactyly syndrome 43 22
syns1 43 45
deafness-symphalangism syndrome of herrmann 43
synostoses multiple with brachydactyly 43
facioaudiosymphalangism syndrome 43
wl syndrome 43


Related Diseases for Multiple Synostoses Syndrome 1

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Sources:
17GeneCards, 18GeneDecks
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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:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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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

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Sources:
20GeneTests, 22GTR
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Genetic tests related to Multiple Synostoses Syndrome 1:

id Genetic test Affiliating Genes
1 Multiple Synostoses Syndrome 120 NOG
2 Symphalangism-Brachydactyly Syndrome22

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:
15Gene 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
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet