SABTS
MCID: STP011
MIFTS: 48

Stapes Ankylosis with Broad Thumbs and Toes (SABTS)

Categories: Bone diseases, Ear diseases, Fetal diseases, Genetic diseases, Muscle 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 56 58
Stapes Ankylosis with Broad Thumb and Toes 73 36 29 13 6 39 71
Teunissen-Cremers Syndrome 56 58 73
Ankylosis of Stapes, Hyperopia, Broad Thumbs, Broad First Toes, and Syndactyly 56 73
Stapes Ankylosis Syndrome Without Symphalangism 56 73
Musculoskeletal Diseases 43
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:

56
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 56 184460
KEGG 36 H00868
MeSH 43 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 chromosome 2q35 duplication 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 TGF-beta signaling pathway (KEGG). The drugs Tranexamic Acid and Aminocaproic acid have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and testes, 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.

Wikipedia : 74 Teunissen-Cremers syndrome is a genetic disorder that presents with skeleton defects some of which can... more...

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 top 50) (show all 184)
# Related Disease Score Top Affiliating Genes
1 proximal symphalangism 30.5 NOG BMP7
2 chromosome 2q35 duplication syndrome 30.2 NOG BMP7
3 bone disease 29.2 NOG BMP7
4 musculoskeletal disease with cataract 12.3
5 keipert syndrome 11.6
6 uruguay faciocardiomusculoskeletal syndrome 11.3
7 toxic oil syndrome 11.0
8 synostosis 10.6
9 osteoarthritis 10.6
10 osteoporosis 10.6
11 bone mineral density quantitative trait locus 8 10.6
12 bone mineral density quantitative trait locus 15 10.6
13 multiple synostoses syndrome 1 10.5
14 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.5
15 multiple synostoses syndrome 10.5
16 ankylosis 10.5
17 brachydactyly, type b1 10.5
18 abruzzo-erickson syndrome 10.5
19 symphalangism, proximal, 1a 10.4
20 tarsal-carpal coalition syndrome 10.4
21 brachydactyly, type b2 10.4
22 brachydactyly 10.4
23 otosclerosis 10.4
24 farsightedness 10.4
25 rheumatic disease 10.2
26 back pain 10.2
27 enthesopathy 10.1
28 fibromyalgia 10.1
29 chronic pain 10.1
30 inflammatory spondylopathy 10.1
31 spondylitis 10.1
32 tendinitis 10.1
33 spondyloarthropathy 1 10.0
34 arthropathy 10.0
35 psoriatic arthritis 10.0
36 osteomyelitis 10.0
37 gout 10.0
38 anxiety 9.9
39 spondylosis 9.9
40 carpal tunnel syndrome 9.9
41 temporal arteritis 9.9
42 aging 9.9
43 tendinopathy 9.9
44 epicondylitis 9.9
45 frozen shoulder 9.9
46 spinal stenosis 9.9
47 arthritis 9.9
48 fasciitis 9.9
49 tenosynovitis 9.9
50 osseous heteroplasia, progressive 9.8 NOG BMP7

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 underdeveloped nasal alae 31 frequent (33%) HP:0000430
8 low hanging columella 31 frequent (33%) HP:0009765
9 short distal phalanx of finger 31 frequent (33%) HP:0009882
10 toe syndactyly 31 frequent (33%) HP:0001770
11 long nose 31 frequent (33%) HP:0003189
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:

56
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

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.13 BMP7 MSTN NOG
2 limbs/digits/tail MP:0005371 8.8 BMP7 MSTN NOG

Drugs & Therapeutics for Stapes Ankylosis with Broad Thumbs and Toes

Drugs for Stapes Ankylosis with Broad Thumbs and Toes (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 204)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tranexamic Acid Approved Phase 4 1197-18-8 5526
2
Aminocaproic acid Approved, Investigational Phase 4 60-32-2 564
3
Gabapentin Approved, Investigational Phase 4 60142-96-3 3446
4
Chlorzoxazone Approved Phase 4 95-25-0 2733
5
tannic acid Approved Phase 4 1401-55-4
6
Benzocaine Approved, Investigational Phase 4 1994-09-7, 94-09-7 2337
7
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
8
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
9 Hemostatics Phase 4
10 Coagulants Phase 4
11 Antifibrinolytic Agents Phase 4
12 Anti-Anxiety Agents Phase 4
13 Anticonvulsants Phase 4
14 Antimanic Agents Phase 4
15 Anesthetics Phase 4
16 Central Nervous System Depressants Phase 4
17 Anesthetics, General Phase 4
18 Neuromuscular Agents Phase 4
19 Neurotransmitter Agents Phase 4
20 Excitatory Amino Acids Phase 4
21 Excitatory Amino Acid Antagonists Phase 4
22 Anesthetics, Dissociative Phase 4
23 Anesthetics, Intravenous Phase 4
24 Neuromuscular Blocking Agents Phase 4
25 Neuromuscular Nondepolarizing Agents Phase 4
26
Etanercept Approved, Investigational Phase 2, Phase 3 185243-69-0
27
Salicylic acid Approved, Investigational, Vet_approved Phase 3 69-72-7 338
28
Miconazole Approved, Investigational, Vet_approved Phase 3 22916-47-8 4189
29
Methylprednisolone Approved, Vet_approved Phase 3 83-43-2 6741
30
Methylprednisolone hemisuccinate Approved Phase 3 2921-57-5
31
Prednisolone phosphate Approved, Vet_approved Phase 3 302-25-0
32
Prednisolone Approved, Vet_approved Phase 3 50-24-8 5755
33 Prednisolone acetate Approved, Vet_approved Phase 3 52-21-1
34
Denosumab Approved Phase 3 615258-40-7
35
Allopurinol Approved Phase 3 315-30-0 2094
36
Rilonacept Approved, Investigational Phase 3 501081-76-1 104924
37
Sevoflurane Approved, Vet_approved Phase 3 28523-86-6 5206
38
Desflurane Approved Phase 3 57041-67-5 42113
39
Indomethacin Approved, Investigational Phase 3 53-86-1 3715
40
Alendronate Approved Phase 3 121268-17-5, 66376-36-1 2088
41
Curcumin Approved, Experimental, Investigational Phase 3 458-37-7 969516
42
Turmeric Approved, Experimental, Investigational Phase 3
43
Adalimumab Approved Phase 3 331731-18-1 16219006
44
Ibuprofen Approved Phase 3 15687-27-1 3672
45
Lidocaine Approved, Vet_approved Phase 3 137-58-6 3676
46
Hyaluronic acid Approved, Vet_approved Phase 3 9004-61-9 53477741
47
Cyclobenzaprine Approved Phase 3 303-53-7 2895
48
Ergocalciferol Approved, Nutraceutical Phase 2, Phase 3 50-14-6 5280793
49
Vitamin D Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 1406-16-2
50
Vitamin D3 Approved, Nutraceutical Phase 2, Phase 3 67-97-0 6221 5280795

Interventional clinical trials:

(show top 50) (show all 329)
# Name Status NCT ID Phase Drugs
1 A Multi-center, Post Marketing Surveillance Study to Monitor the Safety and Performance of the Barricaid® ARD in the Treatment of Back and Radicular Pain Caused by Primary Lumbar Disc Herniation Completed NCT01534065 Phase 4
2 A Randomized Controlled Trial of Tranexamic Acid and ε-Aminocaproic Acid to Reduce Blood Loss Following Total Knee Arthroplasty Completed NCT01873768 Phase 4 Tranexamic Acid (TXA);ε-Aminocaproic Acid (EACA)
3 Placebo Controlled, Randomized,Gabapentin as Adjuvant for Postoperative Pain in Pediatric Orthopedic Surgery Completed NCT03005483 Phase 4 Gabapentin
4 Analgetic Effects of Chlorzoxazone in Total Hip and Knee Arthroplasty Completed NCT02405104 Phase 4 chlorzoxazone;Placebo
5 Double-blind Trial of Intraoperative Ketamine Versus Saline in Depressed Patients Undergoing Anesthesia for Non-cardiac Surgery Recruiting NCT03861988 Phase 4 Ketamine;Normal saline (placebo)
6 Deep Versus Moderate Neuromuscular Blockade for Optimising Surgical Conditions Include Patient Benefits During Spinal Surgery: A Randomized Controlled Double Blinded Clinical Study Recruiting NCT02778945 Phase 4 Rocuronium 0.9 mg/kg;Rocuronium 0.6 mg/kg
7 Diathermy Compared With Sham Diathermy in Doms Management Terminated NCT02367079 Phase 4
8 Phase III Study of Human Bone Marrow-Derived Mesenchymal Stem Cells to Treat AS Unknown status NCT02809781 Phase 2, Phase 3 Etanercept
9 The Efficacy of Occlusal Stabilization Appliance Associated to Counseling in the Management of Myofascial Pain Chronic and in the Improvement of the Quality of Life of Patients With Temporomandibular Disorders Unknown status NCT01544439 Phase 3
10 A Study of the Safety and Efficacy of Synvisc and Depo-Medrol in Patients With Osteoarthritis of the Hip Completed NCT00131326 Phase 3
11 A Study of the Safety and Efficacy of Synvisc in Patients With Symptomatic Shoulder Osteoarthritis Completed NCT00131300 Phase 3
12 A Multicenter, International, Randomized, Double-blind, Placebo-controlled, Parallel-group Study to Assess the Efficacy and Safety of Romosozumab Treatment in Postmenopausal Women With Osteoporosis Completed NCT01575834 Phase 3 Romosozumab;Placebo;Denosumab
13 A Multicenter, Randomized, Double-blind, Placebo-controlled, Study to Compare the Efficacy and Safety of Romosozumab With Placebo in Postmenopausal South Korean Women With Osteoporosis Completed NCT02791516 Phase 3 Romosozumab;Placebo
14 A Multi-Centre, Parallel, Double-Blind, Blinded Evaluator, Randomised, Placebo-Controlled Evaluation of the Efficacy and Safety of a Single Dose of 6 mL of Synvisc in Patients With Symptomatic Osteoarthritis of the Knee Completed NCT00131352 Phase 3
15 A Multi-Center, Randomized, Double-Blind, Placebo Controlled Trial of the Safety of Rilonacept for the Prophylaxis of Gout Flares in Patients on Urate- Lowering Therapy Completed NCT00856206 Phase 3
16 The Different Analgesic Potency of Sevoflurane and Desflurane at Equi-minimum Alveolar Concentration Completed NCT02609802 Phase 3 Sevoflurane;Desflurane
17 A Phase 3 Extension Study of Ataluren (PTC124) in Patients With Nonsense Mutation Dystrophinopathy Completed NCT02090959 Phase 3 Ataluren
18 A Multi-Center, Randomized, Double-Blind, Placebo Controlled Study of the Efficacy and Safety of Rilonacept for the Prophylaxis of Gout Flares During the Initiation of Allopurinol Therapy Completed NCT00829829 Phase 3 Rilonacept 80 mg;Rilonacept 160 mg
19 A Phase 3 Randomized, Double-Blind, Placebo-Controlled, Multicenter Study to Evaluate the Efficacy and Safety of BMN 111 in Children With Achondroplasia Completed NCT03197766 Phase 3 BMN 111;Placebo
20 A Phase 3, Double-Blind, Randomized, Multicenter, Placebo-Controlled Study to Evaluate the Efficacy and Safety of TNX-102 SL Tablets Taken Daily at Bedtime in Patients With Fibromyalgia Completed NCT02436096 Phase 3 TNX-102 SL Tablet, 2.8mg;Placebo SL Tablet
21 A Multi-Center, Randomized, Double-Blind, Active-Controlled Study of the Safety and Efficacy of Rilonacept Administered Subcutaneously for the Treatment of an Acute Gout Flare Completed NCT00855920 Phase 3 Rilonacept;Indomethacin
22 A Multicenter, International, Randomized, Double-blind, Alendronate-controlled Study to Determine the Efficacy and Safety of Romosozumab in the Treatment of Postmenopausal Women With Osteoporosis Completed NCT01631214 Phase 3 Alendronate;Placebo to Romosozumab;Placebo to Alendronate
23 A Multi-Center, Randomized, Double-Blind, Placebo Controlled Study of the Efficacy and Safety of Rilonacept for the Prophylaxis of Gout Flares During the Initiation of Allopurinol Therapy Completed NCT00958438 Phase 3 Placebo;Rilonacept;Rilonacept
24 The Efficacy and Safety of Curcuma Domestica Extracts and Ibuprofen for Therapy of Patients With Knee Osteoarthritis, the Randomized Double-blinded Controlled Trial, Multicenter Study Completed NCT00792818 Phase 3 Curcuma domestica extracts;Ibuprofen
25 A Pragmatic, Randomised Controlled Trial of Physiotherapy and Corticosteroid Injections in Lateral Epicondylalgia Completed NCT00110318 Phase 3
26 The Effects of Knee Malalignment and Quadriceps Strengthening on the Adduction Moment in Individuals With Medial Knee Osteoarthritis Completed NCT00414557 Phase 2, Phase 3
27 A Multicenter, Randomized, Double-Blind, Study Comparing the Efficacy and Safety of Continuing Versus Withdrawing Adalimumab Therapy in Maintaining Remission in Subjects With Non-Radiographic Axial Spondyloarthritis Completed NCT01808118 Phase 3
28 The Value of Traction in Treatment of Lumbar Radiculopathy. Completed NCT00942227 Phase 3
29 The Value of Mechanical Traction in the Treatment of Cervical Radiculopathy Completed NCT00979108 Phase 3
30 A Phase 3 Efficacy and Safety Study of Ataluren (PTC124) in Patients With Nonsense Mutation Dystrophinopathy Completed NCT01826487 Phase 3 Ataluren;Placebo
31 Intravenous Tranexamic Acid to Reduce Blood Loss in Reverse Total Shoulder Arthroplasty Completed NCT02043132 Phase 2, Phase 3 Tranexamic Acid;Placebo
32 Efficacy of Lidocaine Patch in Acute Musculoskeletal Pain in the Emergency Department: A Prospective Randomized Controlled Study Recruiting NCT03571737 Phase 3 Ibuprofen;Lidocaine Patch 4%
33 A Phase 3, Randomized, Double-blind, Placebo-controlled Efficacy and Safety Study of Ataluren in Patients With Nonsense Mutation Duchenne Muscular Dystrophy and Open-Label Extension Recruiting NCT03179631 Phase 3 Ataluren;PLACEBO
34 Study on Efficacy, Safety and Economy of Tong-Luo-Qu-Tong Plaster Treatment for Knee Osteoarthritis: Study Protocol for a Randomised, Double-blind, Parallel Positive Control, Multi-center Clinical Trial Recruiting NCT03309501 Phase 3 Tong-Luo-Qu-Tong Plaster;Qi-Zheng-Xiao-Tong Plaster
35 A Phase 3, Open-Label Long-Term Extension Study to Evaluate the Safety and Efficacy of BMN 111 in Children With Achondroplasia Active, not recruiting NCT03424018 Phase 3 BMN 111
36 A Randomized, Double-Blind, Placebo-Controlled, Global Phase 3 Study of Edasalonexent in Pediatric Patients With Duchenne Muscular Dystrophy Active, not recruiting NCT03703882 Phase 3 Edasalonexent;Placebo
37 A Prospective, Multicenter, Randomized, Double-blind, Placebo-controlled Study to Evaluate the Efficacy and Safety of a Single Injection of Rexlemestrocel-L Alone or Combined With Hyaluronic Acid (HA) in Subjects With Chronic Low Back Pain Active, not recruiting NCT02412735 Phase 3 rexlemestrocel-L;rexlemestrocel-L + HA;Placebo
38 Comparative Evaluation of Lumbar Plexus and Suprainguinal Fascia Iliaca Compartment Blocks for Pain Management After Orthopedic Surgical Procedures Involving Hip and Femur in Pediatrics. Enrolling by invitation NCT03746951 Phase 2, Phase 3 Ropivacaine Hcl 0.5% Inj Vil 20Ml
39 An Open-Label Extension Study of Edasalonexent in Pediatric Patients With Duchenne Muscular Dystrophy Enrolling by invitation NCT03917719 Phase 3 Edasalonexent
40 A Phase 3, Multicenter, Randomized, Long Term Study Of The Safety Of The Subcutaneous Administration Of Tanezumab In Patients With Osteoarthritis Of The Knee Terminated NCT01127893 Phase 3
41 Placebo-controlled Trial With Vitamin D to Prevent Worsening/Relieve Aromatase Inhibitor-induced Musculoskeletal Symptoms in Breast Cancer Patients Terminated NCT01809171 Phase 2, Phase 3 Vitamin D3;Placebo
42 A Phase 3, Double-Blind, Randomized, Multicenter, Placebo-Controlled Study To Evaluate The EFFIcacy and Safety of TNX-102 SL Tablets Taken Daily At Bedtime In Patients With FibRoMyalgia Terminated NCT02829814 Phase 3 TNX-102 SL Tablet, 2.8 mg;Placebo SL Tablet
43 Study Phase III to Evaluate the Noninferiority of Heavy Levobupivacaine 50% Enantiomeric Excess (Levobupivacaine S75:R25) Compared to Racemic Heavy Bupivacaine (Bupivacaine S50:R50) in Spinal Anesthesia for Lower Limb Orthopedic Procedures Withdrawn NCT01994967 Phase 3 Levobupivacaine;Bupivacaine
44 Chronic Non-bacterial Osteomyelitis Treated With Pamidronate in a Randomised Placebo Controlled Trial Unknown status NCT02594878 Phase 2 Pamidronatdinatrium
45 Effect of Transcranial Magnetic Stimulation in the Cortical, Subcortical Neuromodulation and in Pain Threshold of Chronic Myofascial Pain Patients Unknown status NCT01964729 Phase 2
46 Influence of Manual Therapy in Temporomandibular Joint on the Mandibular Movement: Clinical Trial, Randomised, Placebo-controlled and Blind Unknown status NCT02880774 Phase 1, Phase 2
47 A Randomized, Double-blind, Placebo-controlled, Multi-dose Phase 2 Study to Evaluate the Efficacy, Safety and Tolerability of Romosozumab in the Treatment of Japanese Women With Postmenopausal Osteoporosis Completed NCT01992159 Phase 2 Romosozumab;Placebo
48 A Phase 2a, Multicenter, Randomized, Double-Blind, Placebo-Controlled Study Comparing the Safety and Efficacy of ABT-981 to Placebo in Subjects With Erosive Hand Osteoarthritis Completed NCT02384538 Phase 2
49 A Randomized, Double-blind, Placebo-controlled, Multiple-dose Study to Evaluate the Safety, Tolerability, and Efficacy of AMG 827 in Subjects With Rheumatoid Arthritis and an Inadequate Response to Methotrexate Completed NCT00950989 Phase 2 AMG 827 70 mg;AMG 827 140 mg;AMG 827 210 mg;Placebo;Stable weekly dose of methotrexate
50 Treatment of Lumbar Degenerative Disc Disease With Allogenic Mesenchymal Stem Cells (MSV*) *MSV: Bone Marrow Mesenchymal Stromal Cells Expanded Using the Valladolid IBGM Procedure Completed NCT01860417 Phase 1, Phase 2 Mepivacaine

Search 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

Anatomical Context for Stapes Ankylosis with Broad Thumbs and Toes

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

40
Bone, Bone Marrow, Testes, Liver, Lung, Cortex, Spinal Cord

Publications for Stapes Ankylosis with Broad Thumbs and Toes

Articles related to Stapes Ankylosis with Broad Thumbs and Toes:

(show all 18)
# 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. 61 56 6
12089654 2002
2
P35S mutation in the NOG gene associated with Teunissen-Cremers syndrome and features of multiple NOG joint-fusion syndromes. 56 6
18440889 2008
3
Bmp4 mediates apoptotic cell death in the developing chick eye. 56 6
11160400 2001
4
Congenital stapes ankylosis, broad thumbs, and hyperopia: report of a family and refinement of a syndrome. 56 6
10069712 1999
5
BMP4 is essential for lens induction in the mouse embryo. 56 6
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. 56
9220188 1997
9
An autosomal dominant inherited syndrome with congenital stapes ankylosis. 56
2319886 1990
10
Novel NOG mutation in Japanese patients with stapes ankylosis with broad thumbs and toes. 61
26211601 2015
11
Identification of two novel mutations in the NOG gene associated with congenital stapes ankylosis and symphalangism. 61
25391606 2015
12
Mutations in the NOG gene are commonly found in congenital stapes ankylosis with symphalangism, but not in otosclerosis. 61
22288654 2012
13
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
14
Otosclerosis or congenital stapes ankylosis? The diagnostic role of genetic analysis. 61
19471170 2009
15
Myostatin as a therapeutic target for musculoskeletal disease. 54
18425412 2008
16
Long-term enhancement of skeletal muscle mass and strength by single gene administration of myostatin inhibitors. 54
18334646 2008
17
Transcriptional regulation of the cartilage intermediate layer protein (CILP) gene. 54
16413503 2006
18
Bone morphogenetic protein-7 modulates genes that maintain the vascular smooth muscle cell phenotype in culture. 54
11263669 2001

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.103C>T (p.Pro35Ser)SNV Pathogenic 6703 rs28937580 17:54671687-54671687 17:56594326-56594326
2 NOG NM_005450.5(NOG):c.328C>T (p.Gln110Ter)SNV Pathogenic 6704 rs104894614 17:54671912-54671912 17:56594551-56594551
3 NOG NOG, 1-BP INS, 252Cinsertion Pathogenic 6705

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

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

# Super pathways Score Top Affiliating Genes
1 10.93 NOG BMP7
2
Show member pathways
10.48 NOG BMP7

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 NOG MSTN CILP BMP7
2 extracellular space GO:0005615 8.92 NOG MSTN CILP BMP7

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

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

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 MSTN BMP7
2 heparin binding GO:0008201 9.16 MSTN BMP7
3 growth factor activity GO:0008083 8.96 MSTN BMP7
4 transforming growth factor beta receptor binding GO:0005160 8.62 MSTN BMP7

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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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