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 52 24 70 12 68
Teunissen-Cremers Syndrome 24 54 70
Stapes Ankylosis with Broad Thumbs and Toes 54 27
 
Stapes Ankylosis Syndrome Without Symphalangism 24
Sabts 70

Characteristics:

Orphanet epidemiological data:

54
teunissen-cremers syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

HPO:

64
stapes ankylosis with broad thumb and toes:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 184460
Orphanet54 ORPHA140917
ICD10 via Orphanet31 Q87.8
MedGen37 C1866656

Summaries for Stapes Ankylosis with Broad Thumb and Toes

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UniProtKB/Swiss-Prot:70 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:52 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 & Phenotypes 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:

 64 (show all 14)
id Description HPO Frequency HPO Source Accession
1 stapes ankylosis64 hallmark (90%) HP:0000381
2 conductive hearing impairment64 hallmark (90%) HP:0000405
3 hypermetropia64 hallmark (90%) HP:0000540
4 congenital stapes ankylosis64 hallmark (90%) HP:0007943
5 broad hallux64 hallmark (90%) HP:0010055
6 broad thumb64 hallmark (90%) HP:0011304
7 short distal phalanx of finger64 common (75%) HP:0009882
8 underdeveloped nasal alae64 frequent (33%) HP:0000430
9 toe syndactyly64 frequent (33%) HP:0001770
10 long nose64 frequent (33%) HP:0003189
11 low hanging columella64 frequent (33%) HP:0009765
12 limited neck range of motion64 3% HP:0000466
13 fused cervical vertebrae64 2% HP:0002949
14 proximal/middle symphalangism of 5th finger64 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 Toes27 24 NOG

Anatomical Context for Stapes Ankylosis with Broad Thumb and Toes

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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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet