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 51 24 69 12 67
Teunissen-Cremers Syndrome 24 53 69
Stapes Ankylosis with Broad Thumbs and Toes 53 26
 
Stapes Ankylosis Syndrome Without Symphalangism 24
Sabts 69

Characteristics:

Orphanet epidemiological data:

53
teunissen-cremers syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

63
stapes ankylosis with broad thumb and toes:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM51 184460
Orphanet53 ORPHA140917
ICD10 via Orphanet30 Q87.8
MedGen36 C1866656

Summaries for Stapes Ankylosis with Broad Thumb and Toes

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UniProtKB/Swiss-Prot:69 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:51 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 syndrome11.4
2ankylosis10.2

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

Human phenotypes related to Stapes Ankylosis with Broad Thumb and Toes:

 63 (show all 14)
id Description HPO Frequency HPO Source Accession
1 stapes ankylosis63 hallmark (90%) HP:0000381
2 conductive hearing impairment63 hallmark (90%) HP:0000405
3 hypermetropia63 hallmark (90%) HP:0000540
4 congenital stapes ankylosis63 hallmark (90%) HP:0007943
5 broad hallux63 hallmark (90%) HP:0010055
6 broad thumb63 hallmark (90%) HP:0011304
7 short distal phalanx of finger63 common (75%) HP:0009882
8 underdeveloped nasal alae63 frequent (33%) HP:0000430
9 toe syndactyly63 frequent (33%) HP:0001770
10 long nose63 frequent (33%) HP:0003189
11 low hanging columella63 frequent (33%) HP:0009765
12 limited neck range of motion63 3% HP:0000466
13 fused cervical vertebrae63 2% HP:0002949
14 proximal/middle symphalangism of 5th finger63 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 Toes26 24 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)SNVPathogenicrs28937580GRCh37Chr 17, 54671687: 54671687
2NOGNM_005450.4(NOG): c.328C> T (p.Gln110Ter)SNVPathogenicrs104894614GRCh37Chr 17, 54671912: 54671912
3NOGNOG, 1-BP INS, 252CinsertionPathogenicChr na, -1: -1

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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet