MCID: STP005
MIFTS: 20

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 49 11 22 67 65
Teunissen-Cremers Syndrome 22 51 67
Stapes Ankylosis with Broad Thumbs and Toes 51 24
 
Stapes Ankylosis Syndrome Without Symphalangism 22
Sabts 67

Characteristics:

Orphanet epidemiological data:

51
teunissen-cremers syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

61
stapes ankylosis with broad thumb and toes:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 184460
Orphanet51 140917
ICD10 via Orphanet28 Q87.8
MedGen34 C1866656
UMLS65 C1866656

Summaries for Stapes Ankylosis with Broad Thumb and Toes

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UniProtKB/Swiss-Prot:67 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 broad thumb, broad hallux and congenital stapes ankylosis. An important gene associated with Stapes Ankylosis with Broad Thumb and Toes is NOG (Noggin).

Description from OMIM:49 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 syndrome10.3
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 broad thumb hallmark (90%) HP:0011304
2 broad hallux hallmark (90%) HP:0010055
3 congenital stapes ankylosis hallmark (90%) HP:0007943
4 hypermetropia hallmark (90%) HP:0000540
5 conductive hearing impairment hallmark (90%) HP:0000405
6 stapes ankylosis hallmark (90%) HP:0000381
7 short distal phalanx of finger common (75%) HP:0009882
8 low hanging columella frequent (33%) HP:0009765
9 long nose frequent (33%) HP:0003189
10 toe syndactyly frequent (33%) HP:0001770
11 underdeveloped nasal alae frequent (33%) HP:0000430
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 Toes22 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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet