SABTS
MCID: STP011
MIFTS: 31

Stapes Ankylosis with Broad Thumbs and Toes (SABTS)

Categories: Ear diseases, Fetal diseases, Genetic diseases, Rare diseases, Smell/Taste diseases

Aliases & Classifications for Stapes Ankylosis with Broad Thumbs and Toes

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

Name: Stapes Ankylosis with Broad Thumbs and Toes 57 58
Stapes Ankylosis with Broad Thumb and Toes 73 36 29 13 6 39 71
Teunissen-Cremers Syndrome 57 58 73
Ankylosis of Stapes, Hyperopia, Broad Thumbs, Broad First Toes, and Syndactyly 57 73
Stapes Ankylosis Syndrome Without Symphalangism 57 73
Sabts 73

Characteristics:

Orphanet epidemiological data:

58
stapes ankylosis with broad thumbs and toes
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

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


HPO:

31
stapes ankylosis with broad thumbs and toes:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare otorhinolaryngological diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 184460
KEGG 36 H00868
MeSH 44 D009140
ICD10 via Orphanet 33 Q87.8
UMLS via Orphanet 72 C1866656
Orphanet 58 ORPHA140917
MedGen 41 C1866656
UMLS 71 C1866656

Summaries for Stapes Ankylosis with Broad Thumbs and Toes

KEGG : 36 This syndrome is characterized by conductive hearing loss due to congenital fixation of stapes, hyperopia, a hemicylindrical nose, broad thumbs and first toes. Noggin, the causative gene of several symphalangisms, has been implicated in the disease.

MalaCards based summary : Stapes Ankylosis with Broad Thumbs and Toes, also known as stapes ankylosis with broad thumb and toes, is related to proximal symphalangism and multiple synostoses syndrome 1. An important gene associated with Stapes Ankylosis with Broad Thumbs and Toes is NOG (Noggin), and among its related pathways/superpathways is TGF-beta signaling pathway. Affiliated tissues include eye and bone, and related phenotypes are broad thumb and conductive hearing impairment

UniProtKB/Swiss-Prot : 73 Stapes ankylosis with broad thumb and toes: An autosomal dominant disorder characterized by hyperopia, a hemicylindrical nose, broad thumbs, great toes, and other minor skeletal anomalies but lacked carpal and tarsal fusion and symphalangism.

More information from OMIM: 184460

Related Diseases for Stapes Ankylosis with Broad Thumbs and Toes

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

(show all 15)
# Related Disease Score Top Affiliating Genes
1 proximal symphalangism 30.0 NOG ANKFN1
2 multiple synostoses syndrome 1 10.6
3 multiple synostoses syndrome 10.6
4 ankylosis 10.6
5 tarsal-carpal coalition syndrome 10.4
6 brachydactyly, type b2 10.4
7 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
8 brachydactyly 10.4
9 otosclerosis 10.4
10 farsightedness 10.4
11 synostosis 10.4
12 brachydactyly, type b1 10.2
13 symphalangism, proximal, 1a 10.2
14 chromosome 2q35 duplication syndrome 10.2
15 abruzzo-erickson syndrome 10.2

Graphical network of the top 20 diseases related to Stapes Ankylosis with Broad Thumbs and Toes:



Diseases related to Stapes Ankylosis with Broad Thumbs and Toes

Symptoms & Phenotypes for Stapes Ankylosis with Broad Thumbs and Toes

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

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 broad thumb 31 hallmark (90%) HP:0011304
2 conductive hearing impairment 31 hallmark (90%) HP:0000405
3 stapes ankylosis 31 hallmark (90%) HP:0000381
4 hypermetropia 31 hallmark (90%) HP:0000540
5 broad hallux 31 hallmark (90%) HP:0010055
6 congenital stapes ankylosis 31 hallmark (90%) HP:0007943
7 short distal phalanx of finger 31 frequent (33%) HP:0009882
8 toe syndactyly 31 frequent (33%) HP:0001770
9 underdeveloped nasal alae 31 frequent (33%) HP:0000430
10 long nose 31 frequent (33%) HP:0003189
11 low hanging columella 31 frequent (33%) HP:0009765
12 fused cervical vertebrae 31 very rare (1%) HP:0002949
13 limited neck range of motion 31 very rare (1%) HP:0000466
14 proximal/middle symphalangism of 5th finger 31 HP:0009177

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Skeletal Spine:
fused cervical vertebrae

Skeletal Feet:
syndactyly
broad halluces

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

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

Head And Neck Neck:
limited neck range of motion

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

Clinical features from OMIM®:

184460 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Stapes Ankylosis with Broad Thumbs and Toes:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 8.96 ANKFN1 NOG
2 taste/olfaction MP:0005394 8.62 ANKFN1 NOG

Drugs & Therapeutics for Stapes Ankylosis with Broad Thumbs and Toes

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

Genetic Tests for Stapes Ankylosis with Broad Thumbs and Toes

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

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

Anatomical Context for Stapes Ankylosis with Broad Thumbs and Toes

MalaCards organs/tissues related to Stapes Ankylosis with Broad Thumbs and Toes:

40
Eye, Bone

Publications for Stapes Ankylosis with Broad Thumbs and Toes

Articles related to Stapes Ankylosis with Broad Thumbs and Toes:

(show all 15)
# Title Authors PMID 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. 57 6 61
12089654 2002
2
P35S mutation in the NOG gene associated with Teunissen-Cremers syndrome and features of multiple NOG joint-fusion syndromes. 6 57
18440889 2008
3
Bmp4 mediates apoptotic cell death in the developing chick eye. 6 57
11160400 2001
4
Congenital stapes ankylosis, broad thumbs, and hyperopia: report of a family and refinement of a syndrome. 6 57
10069712 1999
5
BMP4 is essential for lens induction in the mouse embryo. 6 57
9851982 1998
6
A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN. 6
17668388 2007
7
Identification of a novel NOG gene mutation (P35S) in an Italian family with symphalangism. 6
11857750 2002
8
The autosomal dominant syndrome with congenital stapes ankylosis, broad thumbs and hyperopia. 57
9220188 1997
9
An autosomal dominant inherited syndrome with congenital stapes ankylosis. 57
2319886 1990
10
Is the Conductive Hearing Loss in NOG-Related Symphalangism Spectrum Disorder Congenital? 61
33588412 2021
11
Novel NOG mutation in Japanese patients with stapes ankylosis with broad thumbs and toes. 61
26211601 2015
12
Identification of two novel mutations in the NOG gene associated with congenital stapes ankylosis and symphalangism. 61
25391606 2015
13
Mutations in the NOG gene are commonly found in congenital stapes ankylosis with symphalangism, but not in otosclerosis. 61
22288654 2012
14
A comprehensive review of reported heritable noggin-associated syndromes and proposed clinical utility of one broadly inclusive diagnostic term: NOG-related-symphalangism spectrum disorder (NOG-SSD). 61
21538686 2011
15
Otosclerosis or congenital stapes ankylosis? The diagnostic role of genetic analysis. 61
19471170 2009

Variations for Stapes Ankylosis with Broad Thumbs and Toes

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

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NOG NM_005450.5(NOG):c.328C>T (p.Gln110Ter) SNV Pathogenic 6704 rs104894614 17:54671912-54671912 17:56594551-56594551
2 NOG NOG, 1-BP INS, 252C Insertion Pathogenic 6705
3 ANKFN1 Deletion Pathogenic 987739 17:54290100-54844894
4 NOG NM_005450.5(NOG):c.103C>T (p.Pro35Ser) SNV Pathogenic 6703 rs28937580 17:54671687-54671687 17:56594326-56594326
5 NOG NM_005450.5(NOG):c.611G>A (p.Arg204Gln) SNV Likely pathogenic 375295 rs104894610 17:54672195-54672195 17:56594834-56594834

Expression for Stapes Ankylosis with Broad Thumbs and Toes

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

Pathways for Stapes Ankylosis with Broad Thumbs and Toes

Pathways related to Stapes Ankylosis with Broad Thumbs and Toes according to KEGG:

36
# Name Kegg Source Accession
1 TGF-beta signaling pathway hsa04350

GO Terms for Stapes Ankylosis with Broad Thumbs and Toes

Sources for Stapes Ankylosis with Broad Thumbs and Toes

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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