MCID: STP005
MIFTS: 21

Stapes Ankylosis with Broad Thumb and Toes

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

Aliases & Classifications for Stapes Ankylosis with Broad Thumb and Toes

MalaCards integrated aliases for Stapes Ankylosis with Broad Thumb and Toes:

Name: Stapes Ankylosis with Broad Thumb and Toes 54 24 71 29 13 69
Teunissen-Cremers Syndrome 24 56 71
Stapes Ankylosis Syndrome Without Symphalangism 24
Stapes Ankylosis with Broad Thumbs and Toes 56
Sabts 71

Characteristics:

Orphanet epidemiological data:

56
stapes ankylosis with broad thumbs and toes
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
allelic to proximal symphalangism , multiple synostoses syndrome , and tarsal-carpal coalition syndrome


HPO:

32
stapes ankylosis with broad thumb and toes:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 184460
Orphanet 56 ORPHA140917
UMLS via Orphanet 70 C1866656
ICD10 via Orphanet 34 Q87.8
MedGen 40 C1866656

Summaries for Stapes Ankylosis with Broad Thumb and Toes

UniProtKB/Swiss-Prot : 71 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 long nose, toe syndactyly and broad hallux. An important gene associated with Stapes Ankylosis with Broad Thumb and Toes is NOG (Noggin).

Description from OMIM: 184460

Related Diseases for Stapes Ankylosis with Broad Thumb and Toes

Diseases related to Stapes Ankylosis with Broad Thumb and Toes via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 nasodigitoacoustic syndrome 11.4
2 ankylosis 10.2

Symptoms & Phenotypes for Stapes Ankylosis with Broad Thumb and Toes

Symptoms via clinical synopsis from OMIM:

54

Skeletal- Hands:
broad thumbs
syndactyly
short distal phalanges
proximal 5th finger symphalangism

Skeletal- Feet:
syndactyly
broad halluces

Skeletal- Spine:
fused cervical vertebrae

Head And Neck- Eyes:
conductive hearing loss
hyperopia
congenital stapes ankylosis

Head And Neck- Mouth:
prominent columella
hypoplastic alae nasi
hemicylindrical nose

Head And Neck- Neck:
limited neck range of motion


Clinical features from OMIM:

184460

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

32 (show all 14)
id Description HPO Frequency HPO Source Accession
1 long nose 32 frequent (33%) HP:0003189
2 toe syndactyly 32 frequent (33%) HP:0001770
3 broad hallux 32 hallmark (90%) HP:0010055
4 hypermetropia 32 hallmark (90%) HP:0000540
5 fused cervical vertebrae 32 very rare (1%) HP:0002949
6 broad thumb 32 hallmark (90%) HP:0011304
7 limited neck range of motion 32 very rare (1%) HP:0000466
8 low hanging columella 32 frequent (33%) HP:0009765
9 stapes ankylosis 32 hallmark (90%) HP:0000381
10 congenital stapes ankylosis 32 hallmark (90%) HP:0007943
11 underdeveloped nasal alae 32 frequent (33%) HP:0000430
12 conductive hearing impairment 32 hallmark (90%) HP:0000405
13 short distal phalanx of finger 32 frequent (33%) HP:0009882
14 proximal/middle symphalangism of 5th finger 32 HP:0009177

Drugs & Therapeutics for Stapes Ankylosis with Broad Thumb and Toes

Search Clinical Trials , NIH Clinical Center for Stapes Ankylosis with Broad Thumb and Toes

Genetic Tests for Stapes Ankylosis with Broad Thumb and Toes

Genetic tests related to Stapes Ankylosis with Broad Thumb and Toes:

id Genetic test Affiliating Genes
1 Stapes Ankylosis with Broad Thumb and Toes 29 24 NOG

Anatomical Context for Stapes Ankylosis with Broad Thumb and Toes

Publications for Stapes Ankylosis with Broad Thumb and Toes

Articles related to Stapes Ankylosis with Broad Thumb and Toes:

id Title Authors Year
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

ClinVar genetic disease variations for Stapes Ankylosis with Broad Thumb and Toes:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 NOG NM_005450.4(NOG): c.103C> T (p.Pro35Ser) single nucleotide variant Pathogenic rs28937580 GRCh37 Chromosome 17, 54671687: 54671687
2 NOG NM_005450.4(NOG): c.328C> T (p.Gln110Ter) single nucleotide variant Pathogenic rs104894614 GRCh37 Chromosome 17, 54671912: 54671912
3 NOG NOG, 1-BP INS, 252C insertion Pathogenic

Expression for Stapes Ankylosis with Broad Thumb and Toes

Search GEO for disease gene expression data for Stapes Ankylosis with Broad Thumb and Toes.

Pathways for Stapes Ankylosis with Broad Thumb and Toes

GO Terms for Stapes Ankylosis with Broad Thumb and Toes

Sources for Stapes Ankylosis with Broad Thumb and Toes

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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