SABTS
MCID: STP011
MIFTS: 48

Stapes Ankylosis with Broad Thumbs and Toes (SABTS)

Categories: Ear diseases, Fetal diseases, Genetic diseases, Muscle diseases, Rare 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 59
Stapes Ankylosis with Broad Thumb and Toes 75 37 29 13 6 40 73
Teunissen-Cremers Syndrome 57 59 75
Ankylosis of Stapes, Hyperopia, Broad Thumbs, Broad First Toes, and Syndactyly 57 75
Stapes Ankylosis Syndrome Without Symphalangism 57 75
Musculoskeletal Diseases 44
Sabts 75

Characteristics:

Orphanet epidemiological data:

59
stapes ankylosis with broad thumbs and toes
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

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


Classifications:



External Ids:

OMIM 57 184460
Orphanet 59 ORPHA140917
UMLS via Orphanet 74 C1866656
ICD10 via Orphanet 34 Q87.8
MedGen 42 C1866656
MeSH 44 D009140
KEGG 37 H00868
UMLS 73 C1866656

Summaries for Stapes Ankylosis with Broad Thumbs and Toes

CDC : 3 The goal of ergonomics (i.e. the scientific study of people at work) is to prevent soft tissue injuries and musculoskeletal disorders (MSDs) caused by sudden or sustained exposure to force, vibration, repetitive motion, and awkward posture. To create an ergonomically sound work environment, NIOSH ergonomists and industrial hygienists recommend designing tasks, work spaces, controls, displays, tools, lighting, and equipment to fit employee’s physical capabilities and limitations. On this page you will find the Musculoskeletal Health Program’s ergonomic recommendations and musculoskeletal health-related research.

MalaCards based summary : Stapes Ankylosis with Broad Thumbs and Toes, also known as stapes ankylosis with broad thumb and toes, is related to nasodigitoacoustic syndrome and uruguay faciocardiomusculoskeletal syndrome. An important gene associated with Stapes Ankylosis with Broad Thumbs and Toes is NOG (Noggin), and among its related pathways/superpathways are TGF-beta signaling pathway and Human Embryonic Stem Cell Pluripotency. Affiliated tissues include bone, bone marrow and liver, and related phenotypes are broad thumb and underdeveloped nasal alae

UniProtKB/Swiss-Prot : 75 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.

Description from OMIM: 184460

Related Diseases for Stapes Ankylosis with Broad Thumbs and Toes

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

Symptoms via clinical synopsis from OMIM:

57
Skeletal Spine:
fused cervical vertebrae

Skeletal Feet:
syndactyly
broad halluces

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

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

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

Head And Neck Neck:
limited neck range of motion


Clinical features from OMIM:

184460

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

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

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.43 BMP7 MSTN NOG
2 digestive/alimentary MP:0005381 9.33 BMP7 MSTN NOG
3 limbs/digits/tail MP:0005371 9.13 BMP7 MSTN NOG
4 renal/urinary system MP:0005367 8.8 BMP7 MSTN 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

Cochrane evidence based reviews: musculoskeletal diseases

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:

41
Bone, Bone Marrow, Liver, Lung, Testes, T Cells, Cortex

Publications for Stapes Ankylosis with Broad Thumbs and Toes

Articles related to Stapes Ankylosis with Broad Thumbs and Toes:

# Title Authors Year
1
Novel NOG mutation in Japanese patients with stapes ankylosis with broad thumbs and toes. ( 26211601 )
2015
2
P35S mutation in the NOG gene associated with Teunissen-Cremers syndrome and features of multiple NOG joint-fusion syndromes. ( 18440889 )
2008
3
Teunissen-Cremers syndrome: a clinical, surgical, and genetic report. ( 15699718 )
2005
4
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 Thumbs and Toes

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

6
# 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.103C> T (p.Pro35Ser) single nucleotide variant Pathogenic rs28937580 GRCh38 Chromosome 17, 56594326: 56594326
3 NOG NM_005450.4(NOG): c.328C> T (p.Gln110Ter) single nucleotide variant Pathogenic rs104894614 GRCh37 Chromosome 17, 54671912: 54671912
4 NOG NM_005450.4(NOG): c.328C> T (p.Gln110Ter) single nucleotide variant Pathogenic rs104894614 GRCh38 Chromosome 17, 56594551: 56594551
5 NOG NOG, 1-BP INS, 252C insertion Pathogenic

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:

37
# Name Kegg Source Accession
1 TGF-beta signaling pathway hsa04350

Pathways related to Stapes Ankylosis with Broad Thumbs and Toes according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.6 BMP7 NOG
2 10.88 BMP7 NOG
3
Show member pathways
10.48 BMP7 NOG

GO Terms for Stapes Ankylosis with Broad Thumbs and Toes

Cellular components related to Stapes Ankylosis with Broad Thumbs and Toes according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.26 BMP7 CILP MSTN NOG
2 extracellular space GO:0005615 8.92 BMP7 CILP MSTN NOG

Biological processes related to Stapes Ankylosis with Broad Thumbs and Toes according to GeneCards Suite gene sharing:

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 regulation of apoptotic process GO:0042981 9.58 BMP7 MSTN
2 negative regulation of gene expression GO:0010629 9.58 CILP NOG
3 axon guidance GO:0007411 9.57 BMP7 NOG
4 skeletal system development GO:0001501 9.56 BMP7 NOG
5 BMP signaling pathway GO:0030509 9.55 BMP7 NOG
6 cartilage development GO:0051216 9.54 BMP7 NOG
7 pattern specification process GO:0007389 9.52 BMP7 NOG
8 cell development GO:0048468 9.51 BMP7 MSTN
9 regulation of MAPK cascade GO:0043408 9.49 BMP7 MSTN
10 SMAD protein signal transduction GO:0060395 9.48 BMP7 MSTN
11 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.46 BMP7 MSTN
12 ureteric bud development GO:0001657 9.43 BMP7 NOG
13 epithelial to mesenchymal transition GO:0001837 9.4 BMP7 NOG
14 cellular response to BMP stimulus GO:0071773 9.37 BMP7 NOG
15 mesoderm formation GO:0001707 9.32 BMP7 NOG
16 anatomical structure formation involved in morphogenesis GO:0048646 9.26 BMP7 NOG
17 embryonic skeletal joint morphogenesis GO:0060272 9.16 BMP7 NOG
18 mesenchymal cell differentiation GO:0048762 8.96 BMP7 NOG
19 heart trabecula morphogenesis GO:0061384 8.62 BMP7 NOG

Molecular functions related to Stapes Ankylosis with Broad Thumbs and Toes according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 9.26 BMP7 MSTN
2 growth factor activity GO:0008083 9.16 BMP7 MSTN
3 heparin binding GO:0008201 8.96 BMP7 MSTN
4 transforming growth factor beta receptor binding GO:0005160 8.62 BMP7 MSTN

Sources for Stapes Ankylosis with Broad Thumbs and Toes

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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