MCID: STP005
MIFTS: 18

Stapes Ankylosis with Broad Thumb and Toes malady

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

Summaries for Stapes Ankylosis with Broad Thumb and Toes

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48OMIM, 34MalaCards
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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 hyperopia. An important gene associated with Stapes Ankylosis with Broad Thumb and Toes is NOG (noggin).

Description from OMIM:48 184460

Aliases & Classifications for Stapes Ankylosis with Broad Thumb and Toes

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Sources:
21GeneTests, 23GTR, 48OMIM, 63UMLS, 50Orphanet, 27ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

50
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 21 23 48 63
stapes ankylosis with broad thumbs and toes 50
teunissen-cremers syndrome 50


External Ids:

OMIM48 184460
ICD10 via Orphanet27 Q87.8

Related Diseases for Stapes Ankylosis with Broad Thumb and Toes

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18GeneCards, 19GeneDecks
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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
2hyperopia10.5
3nasodigitoacoustic syndrome10.5

Symptoms for Stapes Ankylosis with Broad Thumb and Toes

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48OMIM
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Symptoms by clinical synopsis from OMIM:

184460

Clinical features from OMIM:

184460

Drugs & Therapeutics for Stapes Ankylosis with Broad Thumb and Toes

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Stapes Ankylosis with Broad Thumb and Toes

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21GeneTests, 23GTR
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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 Toes21 23 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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53PubMed
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Articles related to Stapes Ankylosis with Broad Thumb and Toes:

idTitleAuthorsYear
1
Autosomal dominant stapes ankylosis with broad thumbs and toes, hyperopia, and skeletal anomalies is caused by heterozygous nonsense and frameshift mutations in NOG, the gene encoding noggin. (12089654)
2002

Variations for Stapes Ankylosis with Broad Thumb and Toes

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Stapes Ankylosis with Broad Thumb and Toes:

1
id Gene Name Type Significance SNP ID Assembly Location
1NOGNM_005450.4(NOG): c.103C> T (p.Pro35Ser)single nucleotide variantPathogenicrs28937580GRCh37Chr 17, 54671687: 54671687
2NOGNM_005450.4(NOG): c.328C> T (p.Gln110Ter)single nucleotide variantPathogenicrs104894614GRCh37Chr 17, 54671912: 54671912
3NOGNOG, 1-BP INS, 252CinsertionPathogenic

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

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16Gene 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
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  • Lysates
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Sources for Stapes Ankylosis with Broad Thumb and Toes

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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