SABTS
MCID: STP011
MIFTS: 49

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 Human Embryonic Stem Cell Pluripotency. The drugs Aminocaproic acid and Tranexamic 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:

(showing 195, show less)
# Related Disease Score Top Affiliating Genes
1 proximal symphalangism 30.6 NOG BMP7
2 chromosome 2q35 duplication syndrome 30.2 NOG BMP7
3 bone disease 29.3 NOG BMP7
4 musculoskeletal disease with cataract 12.3
5 uruguay faciocardiomusculoskeletal syndrome 11.3
6 toxic oil syndrome 11.0
7 synostosis 10.6
8 osteoarthritis 10.6
9 osteoporosis 10.6
10 bone mineral density quantitative trait locus 8 10.6
11 bone mineral density quantitative trait locus 15 10.6
12 multiple synostoses syndrome 1 10.5
13 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.5
14 multiple synostoses syndrome 10.5
15 ankylosis 10.5
16 brachydactyly, type b1 10.5
17 abruzzo-erickson syndrome 10.5
18 symphalangism, proximal, 1a 10.4
19 tarsal-carpal coalition syndrome 10.4
20 brachydactyly, type b2 10.4
21 brachydactyly 10.4
22 otosclerosis 10.4
23 farsightedness 10.4
24 back pain 10.2
25 fibromyalgia 10.2
26 enthesopathy 10.1
27 chronic pain 10.1
28 inflammatory spondylopathy 10.1
29 spondylitis 10.1
30 spondyloarthropathy 1 10.0
31 tendinitis 10.0
32 arthropathy 10.0
33 psoriatic arthritis 10.0
34 osteomyelitis 10.0
35 gout 10.0
36 anxiety 9.9
37 spondylosis 9.9
38 arthritis 9.9
39 carpal tunnel syndrome 9.9
40 temporal arteritis 9.9
41 brittle bone disorder 9.9
42 tendinopathy 9.9
43 epicondylitis 9.9
44 frozen shoulder 9.9
45 spinal stenosis 9.9
46 fasciitis 9.9
47 tenosynovitis 9.9
48 osseous heteroplasia, progressive 9.8 NOG BMP7
49 achondroplasia 9.8
50 developmental dysplasia of the hip 1 9.8
51 osteogenic sarcoma 9.8
52 aging 9.8
53 scoliosis 9.8
54 bone resorption disease 9.8
55 rickets 9.8
56 clubfoot 9.8
57 plica syndrome 9.8
58 cerebral palsy 9.8
59 hyperostosis 9.8
60 synovitis 9.8
61 bursitis 9.8
62 myopathy 9.8
63 myofascial pain syndrome 9.8
64 neuromuscular disease 9.8
65 connective tissue disease 9.8
66 diffuse idiopathic skeletal hyperostosis 9.8
67 septic arthritis 9.8
68 vasculitis 9.8
69 plantar fasciitis 9.8
70 muscular dystrophy 9.8
71 brachydactyly, type a2 9.8 NOG BMP7
72 bone deterioration disease 9.7 CILP BMP7
73 bone structure disease 9.7 CILP BMP7
74 alcohol dependence 9.6
75 autoimmune disease 9.6
76 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 9.6
77 hypercholesterolemia, familial, 1 9.6
78 myositis 9.6
79 patella, chondromalacia of 9.6
80 hyperkalemic periodic paralysis 9.6
81 polykaryocytosis inducer 9.6
82 mccune-albright syndrome 9.6
83 sarcoidosis 1 9.6
84 scleroderma, familial progressive 9.6
85 neural tube defects 9.6
86 torticollis 9.6
87 varicose veins 9.6
88 vertical talus, congenital 9.6
89 hemochromatosis, type 1 9.6
90 myeloma, multiple 9.6
91 insulin-like growth factor i 9.6
92 body mass index quantitative trait locus 11 9.6
93 hypophosphatemic rickets, x-linked dominant 9.6
94 muscular dystrophy, duchenne type 9.6
95 body mass index quantitative trait locus 9 9.6
96 body mass index quantitative trait locus 8 9.6
97 reflex sympathetic dystrophy 9.6
98 body mass index quantitative trait locus 1 9.6
99 pulmonary disease, chronic obstructive 9.6
100 body mass index quantitative trait locus 4 9.6
101 body mass index quantitative trait locus 10 9.6
102 hypereosinophilic syndrome, idiopathic 9.6
103 mycobacterium tuberculosis 1 9.6
104 body mass index quantitative trait locus 7 9.6
105 major depressive disorder 9.6
106 ewing sarcoma 9.6
107 body mass index quantitative trait locus 12 9.6
108 body mass index quantitative trait locus 14 9.6
109 gastric cancer 9.6
110 body mass index quantitative trait locus 18 9.6
111 mucopolysaccharidosis-plus syndrome 9.6
112 body mass index quantitative trait locus 19 9.6
113 body mass index quantitative trait locus 20 9.6
114 juvenile arthritis 9.6
115 chikungunya 9.6
116 hypophosphatemia 9.6
117 foodborne botulism 9.6
118 basal ganglia calcification 9.6
119 physical disorder 9.6
120 fibrous dysplasia 9.6
121 covid-19 9.6
122 hemochromatosis type 2 9.6
123 osteonecrosis 9.6
124 bacterial infectious disease 9.6
125 lactose intolerance 9.6
126 portal hypertension 9.6
127 tetanus 9.6
128 autonomic neuropathy 9.6
129 chondrocalcinosis 9.6
130 hemosiderosis 9.6
131 neutropenia 9.6
132 leukemia 9.6
133 multiple epiphyseal dysplasia 9.6
134 diabetic polyneuropathy 9.6
135 coccidioidomycosis 9.6
136 polyneuropathy 9.6
137 somatization disorder 9.6
138 algoneurodystrophy 9.6
139 calcific tendinitis 9.6
140 hypophosphatasia 9.6
141 shoulder impingement syndrome 9.6
142 hypothyroidism 9.6
143 disease of mental health 9.6
144 rheumatic fever 9.6
145 mental depression 9.6
146 calcinosis 9.6
147 constipation 9.6
148 craniosynostosis 9.6
149 acromegaly 9.6
150 chondromalacia 9.6
151 agammaglobulinemia 9.6
152 pigmented villonodular synovitis 9.6
153 severe acute respiratory syndrome 9.6
154 periarthritis 9.6
155 antiphospholipid syndrome 9.6
156 substance abuse 9.6
157 churg-strauss syndrome 9.6
158 lipid metabolism disorder 9.6
159 pustulosis of palm and sole 9.6
160 movement disease 9.6
161 poliomyelitis 9.6
162 thyroid gland disease 9.6
163 liver cirrhosis 9.6
164 cerebrovascular disease 9.6
165 juvenile rheumatoid arthritis 9.6
166 peptic ulcer disease 9.6
167 muscular atrophy 9.6
168 osteochondrosis 9.6
169 osteochondritis dissecans 9.6
170 lung disease 9.6
171 herpes simplex 9.6
172 psoriasis 9.6
173 diabetes mellitus 9.6
174 necrotizing fasciitis 9.6
175 villonodular synovitis 9.6
176 hypereosinophilic syndrome 9.6
177 47,xyy 9.6
178 fibrous dysplasia/mccune-albright syndrome 9.6
179 allergic angiitis 9.6
180 crystal arthropathies 9.6
181 diffuse cutaneous systemic sclerosis 9.6
182 polymyositis 9.6
183 pure autonomic failure 9.6
184 singleton-merten syndrome 9.6
185 skeletal dysplasias 9.6
186 raynaud phenomenon 9.6
187 depression 9.6
188 hereditary hypophosphatemic rickets 9.6
189 cumulative trauma disorders 9.6
190 dysphagia 9.6
191 overuse syndrome 9.6
192 repetitive motion disorders 9.6
193 whiplash 9.6
194 rare hereditary hemochromatosis 9.6
195 orofacial cleft 9.6 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 (showing 14, show less)
# 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:

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 (showing 2, show less)
# 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):

(showing 190, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Aminocaproic acid Approved, Investigational Phase 4 60-32-2 564
2
Tranexamic Acid Approved Phase 4 1197-18-8 5526
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 94-09-7, 1994-09-7 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
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
10
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
11
Racepinephrine Approved Phase 4 329-65-7 838
12 Psychotropic Drugs Phase 4
13 Hemostatics Phase 4
14 Antifibrinolytic Agents Phase 4
15 Coagulants Phase 4
16 Anti-Anxiety Agents Phase 4
17 Anticonvulsants Phase 4
18 Anesthetics, General Phase 4
19 Anesthetics Phase 4
20 Excitatory Amino Acid Antagonists Phase 4
21 Anesthetics, Dissociative Phase 4
22 Anesthetics, Intravenous Phase 4
23 Neuromuscular Blocking Agents Phase 4
24 Sodium Channel Blockers Phase 4
25 Anti-Arrhythmia Agents Phase 4
26 Diuretics, Potassium Sparing Phase 4
27 Neurotransmitter Agents Phase 4
28 Adrenergic alpha-Agonists Phase 4
29 Adrenergic beta-Agonists Phase 4
30 Respiratory System Agents Phase 4
31 Vasoconstrictor Agents Phase 4
32 Adrenergic Agents Phase 4
33 Epinephryl borate Phase 4
34 Sympathomimetics Phase 4
35 Adrenergic Agonists Phase 4
36 Anti-Asthmatic Agents Phase 4
37 Bronchodilator Agents Phase 4
38 Mydriatics Phase 4
39
Etanercept Approved, Investigational Phase 2, Phase 3 185243-69-0
40
Salicylic acid Approved, Investigational, Vet_approved Phase 3 69-72-7 338
41
Clotrimazole Approved, Vet_approved Phase 3 23593-75-1 2812
42
Miconazole Approved, Investigational, Vet_approved Phase 3 22916-47-8 4189
43
Prednisolone phosphate Approved, Vet_approved Phase 3 302-25-0
44
Methylprednisolone Approved, Vet_approved Phase 3 83-43-2 6741
45
Methylprednisolone hemisuccinate Approved Phase 3 2921-57-5
46
Prednisolone Approved, Vet_approved Phase 3 50-24-8 5755
47 Prednisolone acetate Approved, Vet_approved Phase 3 52-21-1
48
Denosumab Approved Phase 3 615258-40-7
49
Desflurane Approved Phase 3 57041-67-5 42113
50
Sevoflurane Approved, Vet_approved Phase 3 28523-86-6 5206
51
Rilonacept Approved, Investigational Phase 3 501081-76-1 104924
52
Allopurinol Approved Phase 3 315-30-0 2094
53
Indomethacin Approved, Investigational Phase 3 53-86-1 3715
54
Alendronate Approved Phase 3 66376-36-1, 121268-17-5 2088
55
Curcumin Approved, Experimental, Investigational Phase 3 458-37-7 969516
56
Turmeric Approved, Experimental, Investigational Phase 3
57
Adalimumab Approved Phase 3 331731-18-1 16219006
58
Ibuprofen Approved Phase 3 15687-27-1 3672
59
Hyaluronic acid Approved, Vet_approved Phase 3 9004-61-9 53477741
60
Cyclobenzaprine Approved Phase 3 303-53-7 2895
61
Vitamin D3 Approved, Nutraceutical Phase 2, Phase 3 67-97-0 5280795 6221
62
Vitamin D Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 1406-16-2
63
Prednisolone hemisuccinate Experimental Phase 3 2920-86-7
64
Uric acid Investigational Phase 3 69-93-2 1175
65 Tanezumab Investigational Phase 3 880266-57-9
66 Immunosuppressive Agents Phase 2, Phase 3
67 Dermatologic Agents Phase 3
68 Gastrointestinal Agents Phase 2, Phase 3
69 Anti-Infective Agents Phase 3
70 Antifungal Agents Phase 3
71 Keratolytic Agents Phase 3
72 Hylan Phase 3
73 Methylprednisolone Acetate Phase 3
74 Antioxidants Phase 3
75 Natriuretic Peptide, C-Type Phase 3
76 Platelet Aggregation Inhibitors Phase 3
77 Anesthetics, Inhalation Phase 3
78 Tocolytic Agents Phase 3
79 Immunoglobulins Phase 3
80 Antibodies Phase 3
81 Antibodies, Monoclonal Phase 3
82 Turmeric extract Phase 3
83 Antirheumatic Agents Phase 3
84 Analgesics, Non-Narcotic Phase 3
85 Anti-Inflammatory Agents Phase 3
86 Cyclooxygenase Inhibitors Phase 3
87 Anti-Inflammatory Agents, Non-Steroidal Phase 3
88 Viscosupplements Phase 3
89 Protective Agents Phase 3
90 Immunologic Factors Phase 3
91 Adjuvants, Immunologic Phase 3
92 Trace Elements Phase 2, Phase 3
93 Micronutrients Phase 2, Phase 3
94 Vitamins Phase 2, Phase 3
95 Nutrients Phase 2, Phase 3
96 Antidepressive Agents Phase 3
97 Antidepressive Agents, Tricyclic Phase 3
98 Hormones Phase 2, Phase 3
99 Calciferol Phase 2, Phase 3
100 Calcium, Dietary Phase 2, Phase 3
101 Aromatase Inhibitors Phase 2, Phase 3
102
Calcium Nutraceutical Phase 2, Phase 3 7440-70-2 271
103
Pamidronate Approved Phase 2 40391-99-9 4674
104
leucovorin Approved Phase 2 58-05-9 6006 143
105
Methotrexate Approved Phase 2 59-05-2, 1959-05-2 126941
106 Brodalumab Approved, Investigational Phase 2 1174395-19-7
107
Mepivacaine Approved, Vet_approved Phase 1, Phase 2 96-88-8 4062
108
Teriparatide Approved, Investigational Phase 2 52232-67-4 16133850
109
Calcium carbonate Approved, Investigational Phase 2 471-34-1
110
Salmon calcitonin Approved, Investigational Phase 2 47931-85-1 16129616
111
mometasone furoate Approved, Investigational, Vet_approved Phase 2 83919-23-7
112
Zoledronic Acid Approved Phase 2 118072-93-8 68740
113
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
114
Tyrosine Approved, Investigational, Nutraceutical Phase 2 60-18-4 6057
115
Ergocalciferol Approved, Nutraceutical Phase 1, Phase 2 50-14-6 5280793
116
Calcitonin gene-related peptide Investigational Phase 2 83652-28-2
117 Vitamin B Complex Phase 2
118 Folic Acid Antagonists Phase 2
119 Folate Phase 2
120 Vitamin B9 Phase 2
121 Antimetabolites Phase 2
122 Analgesics, Opioid Phase 2
123 Analgesics Phase 2
124 Cayenne Phase 1, Phase 2
125 Antacids Phase 2
126 Anti-Ulcer Agents Phase 2
127 Vasodilator Agents Phase 2
128 Calcium Supplement Phase 2
129 Katacalcin Phase 2
130 calcitonin Phase 2
131 Dapansutrile Phase 2
132 Mitogens Phase 2
133 Diphosphonates Phase 2
134 Ergocalciferols Phase 1, Phase 2
135 Vitamin D2 Phase 1, Phase 2
136
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 1 1177-87-3
137
Dexamethasone Approved, Investigational, Vet_approved Phase 1 50-02-2 5743
138
Lenograstim Approved, Investigational Phase 1 135968-09-1
139
Pioglitazone Approved, Investigational Phase 1 111025-46-8 4829
140
Coal tar Approved Phase 1 8007-45-2
141 Interferon-alpha Phase 1
142 Hormone Antagonists Phase 1
143 Growth Hormone-Releasing Hormone Phase 1
144 Hypoglycemic Agents Phase 1
145
Iron Approved, Experimental 15438-31-0, 7439-89-6 27284 23925
146
Levofloxacin Approved, Investigational 100986-85-4 149096
147
Ofloxacin Approved 82419-36-1 4583
148
Chlorhexidine Approved, Vet_approved 55-56-1 9552079 2713
149
Mupirocin Approved, Investigational, Vet_approved 12650-69-0 446596
150
Leuprolide Approved, Investigational 53714-56-0 657181 3911
151
Testosterone Approved, Experimental, Investigational 58-22-0, 481-30-1 10204 6013
152
Medroxyprogesterone acetate Approved, Investigational 71-58-9
153
Ethanol Approved 64-17-5 702
154
Isotretinoin Approved 4759-48-2 5282379 5538
155
Cimetidine Approved, Investigational 51481-61-9 2756
156
Fentanyl Approved, Illicit, Investigational, Vet_approved 437-38-7 3345
157
Propofol Approved, Investigational, Vet_approved 2078-54-8 4943