MCID: STP005
MIFTS: 18

Stapes Ankylosis with Broad Thumb and Toes malady

Genetic diseases, Ear diseases, Fetal diseases, Rare diseases categories
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Summaries for Stapes Ankylosis with Broad Thumb and Toes

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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 ankylosis and hyperopia. 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

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Sources:
20GeneTests, 22GTR, 47OMIM, 62UMLS, 49Orphanet, 26ICD10 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):

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 62
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

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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
2hyperopia10.5
3nasodigitoacoustic syndrome10.5

Symptoms for Stapes Ankylosis with Broad Thumb and Toes

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47OMIM
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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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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

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Search NIH Clinical Center 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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52PubMed
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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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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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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