SABTS
MCID: STP011
MIFTS: 40

Stapes Ankylosis with Broad Thumbs and Toes (SABTS)

Categories: Bone diseases, 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 58 60
Stapes Ankylosis with Broad Thumb and Toes 76 38 30 13 6 41 74
Teunissen-Cremers Syndrome 58 60 76
Ankylosis of Stapes, Hyperopia, Broad Thumbs, Broad First Toes, and Syndactyly 58 76
Stapes Ankylosis Syndrome Without Symphalangism 58 76
Musculoskeletal Diseases 45
Sabts 76

Characteristics:

Orphanet epidemiological data:

60
stapes ankylosis with broad thumbs and toes
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
stapes ankylosis with broad thumbs and toes:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 184460
KEGG 38 H00868
MeSH 45 D009140
ICD10 via Orphanet 35 Q87.8
UMLS via Orphanet 75 C1866656
Orphanet 60 ORPHA140917
MedGen 43 C1866656
UMLS 74 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 proximal symphalangism and nasodigitoacoustic 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 and eye, and related phenotypes are broad thumb and conductive hearing impairment

UniProtKB/Swiss-Prot : 76 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.

Wikipedia : 77 Teunissen–Cremers syndrome is a genetic disorder that presents with skeleton defects some of which can... more...

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

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

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

Symptoms via clinical synopsis from OMIM:

58
Skeletal Spine:
fused cervical vertebrae

Skeletal Feet:
syndactyly
broad halluces

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

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

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

47
# 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 30 NOG

Anatomical Context for Stapes Ankylosis with Broad Thumbs and Toes

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

42
Bone, Eye

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
A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN. ( 17668388 )
2007
4
Teunissen-Cremers syndrome: a clinical, surgical, and genetic report. ( 15699718 )
2005
5
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
6
Identification of a novel NOG gene mutation (P35S) in an Italian family with symphalangism. ( 11857750 )
2002
7
Bmp4 mediates apoptotic cell death in the developing chick eye. ( 11160400 )
2001
8
Congenital stapes ankylosis, broad thumbs, and hyperopia: report of a family and refinement of a syndrome. ( 10069712 )
1999
9
BMP4 is essential for lens induction in the mouse embryo. ( 9851982 )
1998

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:

38
# 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 10.93 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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