MCID: STP005
MIFTS: 21

Stapes Ankylosis with Broad Thumb and Toes malady

Categories: Genetic diseases, Ear diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Stapes Ankylosis with Broad Thumb and Toes

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

Name: Stapes Ankylosis with Broad Thumb and Toes 50 23 68 12 66
Teunissen-Cremers Syndrome 23 52 68
Stapes Ankylosis with Broad Thumbs and Toes 52 25
 
Stapes Ankylosis Syndrome Without Symphalangism 23
Sabts 68

Characteristics:

Orphanet epidemiological data:

52
teunissen-cremers syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

62
stapes ankylosis with broad thumb and toes:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 184460
Orphanet52 ORPHA140917
ICD10 via Orphanet29 Q87.8
MedGen35 C1866656

Summaries for Stapes Ankylosis with Broad Thumb and Toes

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UniProtKB/Swiss-Prot:68 Stapes ankylosis with broad thumb and toes: Congenital autosomal dominant disorder that includes hyperopia, a hemicylindrical nose, broad thumbs, great toes, and other minor skeletal anomalies but lacked carpal and tarsal fusion and symphalangism.

MalaCards based summary: Stapes Ankylosis with Broad Thumb and Toes, also known as teunissen-cremers syndrome, is related to nasodigitoacoustic syndrome and ankylosis, 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:50 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
1nasodigitoacoustic syndrome10.5
2ankylosis10.3

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 14)
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 proximal/middle symphalangism of 5th finger HP:0009177

Drugs & Therapeutics for Stapes Ankylosis with Broad Thumb and Toes

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Interventional clinical trials:

Search ClinicalTrials, 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 Toes25 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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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:

5
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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GO Terms for genes affiliated with Stapes Ankylosis with Broad Thumb and Toes

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Sources for Stapes Ankylosis with Broad Thumb and Toes

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet