MCID: STP005
MIFTS: 13

Stapes Ankylosis with Broad Thumb and Toes malady

Ear, Fetal categories

Summaries for Stapes Ankylosis with Broad Thumb and Toes

Sources:
47OMIM, 33MalaCards
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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 nasodigitoacoustic syndrome and ankylosis. An important gene associated with Stapes Ankylosis with Broad Thumb and Toes is NOG (noggin).

Description from OMIM:47 184460

Aliases & Classifications for Stapes Ankylosis with Broad Thumb and Toes

Sources:
20GeneTests, 22GTR, 47OMIM, 61UMLS, 49Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
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 47 61
stapes ankylosis with broad thumbs and toes 49
teunissen-cremers syndrome 49


External Ids:

OMIM47 184460
ICD10 via Orphanet26 Q87.8

Related Diseases for Stapes Ankylosis with Broad Thumb and Toes

Sources:
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
1nasodigitoacoustic syndrome10.5
2ankylosis10.5
3hyperopia10.5

Clinical Features for Stapes Ankylosis with Broad Thumb and Toes

Sources:
47OMIM
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Clinical features from OMIM:

184460

Clinical synopsis from OMIM:

184460

Drugs & Therapeutics for Stapes Ankylosis with Broad Thumb and Toes

Sources:
5CenterWatch, 42NIH 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

Sources:
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

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

Sources:
28inGenious Targeting Laboratory
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Publications for Stapes Ankylosis with Broad Thumb and Toes

Genetic Variations for Stapes Ankylosis with Broad Thumb and Toes

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

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

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

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

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

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Sources for Stapes Ankylosis with Broad Thumb and Toes

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet