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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MalaCards based summary: Stapes Ankylosis with Broad Thumb and Toes, also known as stapes ankylosis with broad thumbs and toes, is related to nasodigitoacoustic syndrome and ankylosis, and has symptoms including 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, 48Orphanet, 62UMLS, 26ICD10 via Orphanet
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Stapes Ankylosis with Broad Thumb and Toes, Aliases & Descriptions:

Name: Stapes Ankylosis with Broad Thumb and Toes 20 22 46 62
Stapes Ankylosis with Broad Thumbs and Toes 48
 
Teunissen-Cremers Syndrome 48


Classifications:

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


External Ids:

OMIM46 184460
ICD10 via Orphanet26 Q87.8

Related Diseases for Stapes Ankylosis with Broad Thumb and Toes

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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 syndrome10.6
2ankylosis10.6
3hyperopia10.6

Symptoms for Stapes Ankylosis with Broad Thumb and Toes

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Symptoms by clinical synopsis from OMIM:

184460

Clinical features from OMIM:

184460

HPO human phenotypes related to Stapes Ankylosis with Broad Thumb and Toes:

(show all 15)
id Description Frequency HPO Source Accession
1 stapes ankylosis hallmark (90%) HP:0000381
2 conductive hearing impairment hallmark (90%) HP:0000405
3 hypermetropia hallmark (90%) HP:0000540
4 congenital stapes ankylosis hallmark (90%) HP:0007943
5 broad hallux hallmark (90%) HP:0010055
6 broad thumb hallmark (90%) HP:0011304
7 short distal phalanx of finger common (75%) HP:0009882
8 underdeveloped nasal alae frequent (33%) HP:0000430
9 toe syndactyly frequent (33%) HP:0001770
10 long nose frequent (33%) HP:0003189
11 low hanging columella frequent (33%) HP:0009765
12 limited neck range of motion 3% HP:0000466
13 fused cervical vertebrae 2% HP:0002949
14 autosomal dominant inheritance HP:0000006
15 proximal/middle symphalangism of 5th finger HP:0009177

Drugs & Therapeutics for Stapes Ankylosis with Broad Thumb and Toes

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Drug clinical trials:

Search ClinicalTrials for Stapes Ankylosis with Broad Thumb and Toes

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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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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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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Clinvar genetic disease variations for Stapes Ankylosis with Broad Thumb and Toes:

6
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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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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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet