MCID: STP005
MIFTS: 20

Stapes Ankylosis with Broad Thumb and Toes malady

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

Aliases & Classifications for Stapes Ankylosis with Broad Thumb and Toes

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Sources:
45OMIM, 10diseasecard, 20GeneTests, 47Orphanet, 22GTR, 60UMLS, 26ICD10 via Orphanet
See all sources

Stapes Ankylosis with Broad Thumb and Toes, Aliases & Descriptions:

Name: Stapes Ankylosis with Broad Thumb and Toes 45 10 20 60
Stapes Ankylosis with Broad Thumbs and Toes 47 22
 
Teunissen-Cremers Syndrome 47


Classifications:

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


Characteristics (Orphanet epidemiological data):

47
stapes ankylosis with broad thumbs and toes:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal


External Ids:

OMIM45 184460
Orphanet47 140917
ICD10 via Orphanet26 Q87.8

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 ankylosis and hyperopia, and has symptoms including stapes ankylosis, conductive hearing impairment and hypermetropia. An important gene associated with Stapes Ankylosis with Broad Thumb and Toes is NOG (noggin).

Description from OMIM:45 184460

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 Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1ankylosis10.6
2hyperopia10.6
3nasodigitoacoustic syndrome10.4

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 Variation 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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet