MCID: STP005
MIFTS: 16

Stapes Ankylosis with Broad Thumb and Toes malady

Ear diseases, Fetal diseases categories

Summaries for Stapes Ankylosis with Broad Thumb and Toes

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Sources:
46OMIM, 32MalaCards
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MalaCards: Stapes Ankylosis with Broad Thumb and Toes, also known as stapes ankylosis with broad thumbs and toes, is related to ankylosis and nasodigitoacoustic syndrome. An important gene associated with Stapes Ankylosis with Broad Thumb and Toes is NOG (noggin).

Description from OMIM:46 184460

Aliases & Classifications for Stapes Ankylosis with Broad Thumb and Toes

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Sources:
20GeneTests, 22GTR, 46OMIM, 60UMLS, 48Orphanet, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases
Anatomical: Ear diseases


Characteristics (Orphanet epidemiological data):

48
stapes ankylosis with broad thumbs and toes:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

stapes ankylosis with broad thumb and toes 20 22 46 60
stapes ankylosis with broad thumbs and toes 48
teunissen-cremers syndrome 48


External Ids:

OMIM46 184460
ICD10 via Orphanet26 Q87.8

Related Diseases for Stapes Ankylosis with Broad Thumb and Toes

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17GeneCards, 18GeneDecks
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Diseases related to Stapes Ankylosis with Broad Thumb and Toes via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1ankylosis10.5
2nasodigitoacoustic syndrome10.5

Clinical Features for Stapes Ankylosis with Broad Thumb and Toes

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46OMIM
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Clinical features from OMIM:

184460

Clinical synopsis from OMIM:

184460

Drugs & Therapeutics for Stapes Ankylosis with Broad Thumb and Toes

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search CenterWatch for Stapes Ankylosis with Broad Thumb and Toes

Genetic Tests for Stapes Ankylosis with Broad Thumb and Toes

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20GeneTests, 22GTR
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Genetic tests related to Stapes Ankylosis with Broad Thumb and Toes:

id Genetic test Affiliating Genes
1 Stapes Ankylosis with Broad Thumb and Toes20 22 NOG

Anatomical Context for Stapes Ankylosis with Broad Thumb and Toes

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Animal Models for Stapes Ankylosis with Broad Thumb and Toes or affiliated genes

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Publications for Stapes Ankylosis with Broad Thumb and Toes

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Genetic Variations for Stapes Ankylosis with Broad Thumb and Toes

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Expression for genes affiliated with Stapes Ankylosis with Broad Thumb and Toes

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Sources:
15Gene Expression Omnibus DataSets
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Search GEO for disease gene expression data for Stapes Ankylosis with Broad Thumb and Toes.

Pathways for genes affiliated with Stapes Ankylosis with Broad Thumb and Toes

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Compounds for genes affiliated with Stapes Ankylosis with Broad Thumb and Toes

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GO Terms for genes affiliated with Stapes Ankylosis with Broad Thumb and Toes

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Products for genes affiliated with Stapes Ankylosis with Broad Thumb and Toes

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Stapes Ankylosis with Broad Thumb and Toes

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet