ODDD
MCID: OCL013
MIFTS: 69

Oculodentodigital Dysplasia (ODDD)

Categories: Bone diseases, Cardiovascular diseases, Eye diseases, Fetal diseases, Genetic diseases, Oral diseases, Rare diseases, Skin diseases

Aliases & Classifications for Oculodentodigital Dysplasia

MalaCards integrated aliases for Oculodentodigital Dysplasia:

Name: Oculodentodigital Dysplasia 56 12 52 25 58 73 36 29 13 54 6 43 15 39
Odd Syndrome 56 12 52 25 73
Oculodentoosseous Dysplasia 56 25 58 73
Oddd 56 52 25 73
Oculo-Dento-Digital Dysplasia 52 25 73
Oculodentodigital Syndrome 52 25 73
Odod 56 25 73
Oculo-Dento-Digital Syndrome 52 73
Oculodentodigital Dysplasia Syndrome 54
Oculodentoosseous Dysplasia; Odod 56
Osseous-Oculo-Dental Dysplasia 25
Oculo Dento Digital Dysplasia 74
Oculo-Dento-Osseous Dysplasia 25
Meyer-Schwickerath Syndrome 58
Oddd Syndrome 58
Odds 73

Characteristics:

Orphanet epidemiological data:

58
oculodentodigital dysplasia
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype
cardiac features are observed in ~3% of cases
neurologic features have been diagnosed in ~30% of cases
50% of cases represent new mutations associated with advanced paternal age


HPO:

31
oculodentodigital dysplasia:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Rare circulatory system diseases
Rare bone diseases
Rare skin diseases
Developmental anomalies during embryogenesis
Rare odontological diseases


Summaries for Oculodentodigital Dysplasia

Genetics Home Reference : 25 Oculodentodigital dysplasia is a condition that affects many parts of the body, particularly the eyes (oculo-), teeth (dento-), and fingers (digital). Common features in people with this condition are small eyes (microphthalmia) and other eye abnormalities that can lead to vision loss. Affected individuals also frequently have tooth abnormalities, such as small or missing teeth, weak enamel, multiple cavities, and early tooth loss. Other common features of this condition include a thin nose and webbing of the skin (syndactyly) between the fourth and fifth fingers. Less common features of oculodentodigital dysplasia include sparse hair growth (hypotrichosis), brittle nails, an unusual curvature of the fingers (camptodactyly), syndactyly of the toes, small head size (microcephaly), and an opening in the roof of the mouth (cleft palate). Some affected individuals experience neurological problems such as a lack of bladder or bowel control, difficulty coordinating movements (ataxia), abnormal muscle stiffness (spasticity), hearing loss, and impaired speech (dysarthria). A few people with oculodentodigital dysplasia also have a skin condition called palmoplantar keratoderma. Palmoplantar keratoderma causes the skin on the palms and the soles of the feet to become thick, scaly, and calloused. Some features of oculodentodigital dysplasia are evident at birth, while others become apparent with age.

MalaCards based summary : Oculodentodigital Dysplasia, also known as odd syndrome, is related to chronic closed-angle glaucoma and hypotrichosis. An important gene associated with Oculodentodigital Dysplasia is GJA1 (Gap Junction Protein Alpha 1), and among its related pathways/superpathways are Vesicle-mediated transport and G-Beta Gamma Signaling. The drugs Ursodeoxycholic acid and Dalteparin have been mentioned in the context of this disorder. Affiliated tissues include eye, testes and heart, and related phenotypes are finger syndactyly and carious teeth

Disease Ontology : 12 A syndrome characterized by craniofacial, neurologic, limb and ocular abnormalities.

NIH Rare Diseases : 52 Oculodentodigital dysplasia is a condition that affects many parts of the body, including the eyes (oculo-), teeth (dento-), and fingers (digital). Symptoms of the condition include having small eyes, vision loss, missing teeth, frequent cavities, and bony growths in the fingers. The condition is caused by a mutation in GJA1 and is most typically inherited in an autosomal dominant manner. Oculodentodigital dysplasia can be diagnosed by a clinical examination and confirmed with genetic testing . Management is based on treating the specific symptoms that each affected person exhibits. Early diagnosis can help ensure that the best treatment is available and that steps can be taken to prevent more symptoms from developing.

OMIM : 56 Oculodentodigital syndrome is characterized by a typical facial appearance and variable involvement of the eyes, dentition, and fingers. Characteristic facial features include a narrow, pinched nose with hypoplastic alae nasi, prominent columella and thin anteverted nares together with a narrow nasal bridge, and prominent epicanthic folds giving the impression of hypertelorism. The teeth are usually small and carious. Typical eye findings include microphthalmia and microcornea. The characteristic digital malformation is complete syndactyly of the fourth and fifth fingers (syndactyly type III) but the third finger may be involved and associated camptodactyly is a common finding (summary by Judisch et al., 1979). Neurologic abnormalities are sometimes associated (Gutmann et al., 1991), and lymphedema has been reported in some patients with ODDD (Brice et al., 2013). See review by De Bock et al. (2013). (164200)

KEGG : 36 Oculodentodigital dysplasia (ODDD) is an inherited disorder involving characteristic facial appearance and abnormalities of eyes, teeth, and limbs. The disease is inherited in both an autosomal dominant and recessive fasion. ODDD is caused by mutations in the gap junction alpha 1 gene.

UniProtKB/Swiss-Prot : 73 Oculodentodigital dysplasia: A disease characterized by a typical facial appearance and variable involvement of the eyes, dentition, and fingers. Characteristic facial features include a narrow, pinched nose with hypoplastic alae nasi, prominent columella and thin anteverted nares together with a narrow nasal bridge, and prominent epicanthic folds giving the impression of hypertelorism. The teeth are usually small and carious. Typical eye findings include microphthalmia and microcornea. The characteristic digital malformation is complete syndactyly of the fourth and fifth fingers (syndactyly type III) but the third finger may be involved and associated camptodactyly is a common finding. Cardiac abnormalities are observed in rare instances.

Wikipedia : 74 Oculodentodigital syndrome (ODD syndrome) is an extremely rare genetic condition that typically results... more...

Related Diseases for Oculodentodigital Dysplasia

Diseases in the Oculodentodigital Dysplasia family:

Oculodentodigital Dysplasia, Autosomal Recessive Oculodentodigital Dysplasia Dominant

Diseases related to Oculodentodigital Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 704)
# Related Disease Score Top Affiliating Genes
1 chronic closed-angle glaucoma 30.6 PANX3 PANX2
2 hypotrichosis 30.5 GJB4 GJB3 GJB2 GJA1
3 hallermann-streiff syndrome 30.5 GJC2 GJC1 GJA3 GJA1
4 palmoplantar keratosis 30.1 GJB6 GJB4 GJB3 GJB2 GJA1
5 skin disease 29.6 GJB6 GJB4 GJB3 GJB2 GJA1
6 ectodermal dysplasia 29.6 TWIST2 GJB6 GJB4 GJB2
7 wolff-parkinson-white syndrome 29.4 GJC3 GJA5 GJA1
8 erythrokeratodermia variabilis et progressiva 1 27.3 GJC3 GJC2 GJC1 GJB6 GJB4 GJB3
9 oculodentodigital dysplasia, autosomal recessive 12.8
10 oculodentoosseous dysplasia recessive 12.3
11 oculodentodigital dysplasia dominant 12.3
12 teeth, odd shapes of 12.2
13 scalp-ear-nipple syndrome 11.8
14 syndactyly, type iii 11.7
15 schizotypal personality disorder 11.6
16 fraser syndrome 1 11.6
17 oppositional defiant disorder 11.6
18 trichodentoosseous syndrome 11.4
19 pseudopapilledema 11.3
20 ego-dystonic sexual orientation 11.3
21 optic disk drusen 11.3
22 dysgraphia 11.2
23 delusional disorder 11.2
24 visual snow syndrome 11.2
25 cerebral atrophy 11.2
26 chromosome 2q35 duplication syndrome 10.8
27 colorectal adenoma 10.7
28 polycystic kidney disease 10.7
29 attention deficit-hyperactivity disorder 10.6
30 microphthalmia 10.5
31 x-linked charcot-marie-tooth disease 10.4 GJB2 GJB1
32 spastic paraparesis 10.4
33 conduct disorder 10.4
34 1q21.1 recurrent microdeletion 10.4 GJA8 GJA5
35 intraocular pressure quantitative trait locus 10.4
36 first-degree atrioventricular block 10.4 GJA5 GJA1
37 deafness, autosomal dominant 2b 10.3 GJB3 GJB2
38 persistent hyperplastic primary vitreous 10.3
39 cataract 30, multiple types 10.3 GJA8 GJA3
40 nonsyndromic hearing loss and deafness, dfna3 10.3 GJB6 GJB2
41 ataxia and polyneuropathy, adult-onset 10.3
42 deafness, autosomal dominant 24 10.3 GJB6 GJB2
43 atrioventricular block 10.3 GJC1 GJA5 GJA1
44 purulent labyrinthitis 10.3 GJB6 GJB2
45 labyrinthitis 10.3 GJB6 GJB2
46 pelizaeus-merzbacher-like disease 10.3 GJC2 GJB1 GJA1
47 viral labyrinthitis 10.3 GJB6 GJB2
48 atrioventricular septal defect 10.3 GJC1 GJA5 GJA1
49 ringed hair 10.3
50 alopecia 10.3

Graphical network of the top 20 diseases related to Oculodentodigital Dysplasia:



Diseases related to Oculodentodigital Dysplasia

Symptoms & Phenotypes for Oculodentodigital Dysplasia

Human phenotypes related to Oculodentodigital Dysplasia:

58 31 (show top 50) (show all 112)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 finger syndactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0006101
2 carious teeth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000670
3 underdeveloped nasal alae 58 31 hallmark (90%) Very frequent (99-80%) HP:0000430
4 broad columella 58 31 hallmark (90%) Very frequent (99-80%) HP:0010761
5 cleft palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0000175
6 narrow nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000446
7 clinodactyly of the 5th finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0004209
8 abnormality of dental enamel 58 31 hallmark (90%) Very frequent (99-80%) HP:0000682
9 reduced number of teeth 58 31 hallmark (90%) Very frequent (99-80%) HP:0009804
10 toe syndactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001770
11 microcornea 58 31 hallmark (90%) Very frequent (99-80%) HP:0000482
12 premature loss of primary teeth 58 31 hallmark (90%) Very frequent (99-80%) HP:0006323
13 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
14 seizures 58 31 frequent (33%) Frequent (79-30%) HP:0001250
15 hyperreflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001347
16 ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0001251
17 dysarthria 58 31 frequent (33%) Frequent (79-30%) HP:0001260
18 gait disturbance 58 31 frequent (33%) Frequent (79-30%) HP:0001288
19 cerebral calcification 58 31 frequent (33%) Frequent (79-30%) HP:0002514
20 muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0001324
21 cataract 58 31 frequent (33%) Frequent (79-30%) HP:0000518
22 mandibular prognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000303
23 abnormal cortical bone morphology 58 31 frequent (33%) Frequent (79-30%) HP:0003103
24 short nose 58 31 frequent (33%) Frequent (79-30%) HP:0003196
25 visual impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000505
26 optic atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0000648
27 abnormality of the metaphysis 58 31 frequent (33%) Frequent (79-30%) HP:0000944
28 broad alveolar ridges 58 31 frequent (33%) Frequent (79-30%) HP:0000187
29 myopia 58 31 frequent (33%) Frequent (79-30%) HP:0000545
30 external ear malformation 58 31 frequent (33%) Frequent (79-30%) HP:0008572
31 aplasia/hypoplasia of the cerebellum 58 31 frequent (33%) Frequent (79-30%) HP:0007360
32 high forehead 58 31 frequent (33%) Frequent (79-30%) HP:0000348
33 glaucoma 58 31 frequent (33%) Frequent (79-30%) HP:0000501
34 conductive hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000405
35 hypotrichosis 58 31 frequent (33%) Frequent (79-30%) HP:0001006
36 high hypermetropia 58 31 frequent (33%) Frequent (79-30%) HP:0008499
37 curly hair 58 31 frequent (33%) Frequent (79-30%) HP:0002212
38 hypotelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000601
39 camptodactyly of finger 58 31 frequent (33%) Frequent (79-30%) HP:0100490
40 mild global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0011342
41 median cleft lip 58 31 frequent (33%) Frequent (79-30%) HP:0000161
42 slow-growing hair 58 31 frequent (33%) Frequent (79-30%) HP:0002217
43 cranial hyperostosis 58 31 frequent (33%) Frequent (79-30%) HP:0004437
44 spastic paraparesis 58 31 frequent (33%) Frequent (79-30%) HP:0002313
45 neurogenic bladder 58 31 occasional (7.5%) Frequent (79-30%) HP:0000011
46 aplasia/hypoplasia of the middle phalanges of the hand 58 31 frequent (33%) Frequent (79-30%) HP:0009843
47 thin anteverted nares 58 31 frequent (33%) Frequent (79-30%) HP:0004495
48 abnormal fingernail morphology 31 frequent (33%) HP:0001231
49 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001249
50 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639

Symptoms via clinical synopsis from OMIM:

56
Skeletal Hands:
clinodactyly
short middle phalanx of the 5th finger
syndactyly of 4th - 5th fingers
fifth finger camptodactyly
midphalangeal hypoplasia

Head And Neck Eyes:
cataract
microphthalmia
glaucoma
microcornea
epicanthal folds
more
Head And Neck Mouth:
cleft palate
broad alveolar ridges
cleft lip

Head And Neck Teeth:
microdontia
premature loss of teeth
selective tooth agenesis
enamel hypoplasia
taurodontism (reported in 1 patient)
more
Skeletal Pelvis:
hip dislocation

Head And Neck Ears:
hearing loss, conductive
dysplastic ears (in some patients)

Cardiovascular Heart:
endocardial cushion defects (uncommon)
atrial septal defect (uncommon)
ventral septal defect (uncommon)
cardiac conduction defects (uncommon)

Genitourinary Bladder:
neurogenic bladder (in some patients)

Skeletal Feet:
syndactyly of 3rd - 4th toes

Skin Nails Hair Hair:
fine, dry hair
sparse, slow-growing hair

Neurologic Central Nervous System:
seizures
spasticity
ataxia
dysarthria
hyperactive deep tendon reflexes
more
Head And Neck Head:
microcephaly

Head And Neck Nose:
narrow nasal bridge
thin anteverted nares
small nares
thin hypoplastic alae nasi
prominent columella

Skeletal Limbs:
cubitus valgus
broad tubular bones

Skeletal Spine:
vertebral hyperostosis

Skin Nails Hair Nails:
brittle nails

Abdomen Gastrointestinal:
bowel dysfunction (in some cases)

Skeletal Skull:
skull hyperostosis

Skin Nails Hair Skin:
diffuse yellow-orange non-epidermolytic hyperkeratosis on palms and soles (palmoplantar keratoderma)

Muscle Soft Tissue:
lymphedema of lower limbs (in some patients)

Clinical features from OMIM:

164200

GenomeRNAi Phenotypes related to Oculodentodigital Dysplasia according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.02 GJB1
2 Decreased viability GR00240-S-1 10.02 GJA1
3 Decreased viability GR00381-A-1 10.02 GJA3 TWIST2
4 Decreased viability GR00402-S-2 10.02 GJA1 GJA3 GJA4 GJA5 GJA8 GJB1
5 no effect GR00402-S-1 9.6 GJA1 GJA3 GJA4 GJA5 GJA8 GJB1

MGI Mouse Phenotypes related to Oculodentodigital Dysplasia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.23 GJA1 GJA4 GJA5 GJA8 GJB2 GJB3
2 homeostasis/metabolism MP:0005376 10.21 GJA1 GJA5 GJA8 GJB1 GJB2 GJB3
3 hematopoietic system MP:0005397 10.1 GJA1 GJA5 GJB1 GJB3 GJB4 GJC1
4 immune system MP:0005387 10.1 GJA1 GJA5 GJB1 GJB2 GJB3 GJB4
5 nervous system MP:0003631 10 GJA1 GJB1 GJB2 GJB6 GJC1 GJC2
6 hearing/vestibular/ear MP:0005377 9.98 GJA1 GJB2 GJB3 GJB6 GJC3 PANX1
7 no phenotypic analysis MP:0003012 9.7 GJA1 GJA5 GJB2 GJB3 GJB6 GJC1
8 reproductive system MP:0005389 9.61 GJA1 GJA4 GJA5 GJA8 GJB2 GJB4
9 vision/eye MP:0005391 9.36 GJA1 GJA3 GJA8 GJB1 GJB2 GJC1

Drugs & Therapeutics for Oculodentodigital Dysplasia

Drugs for Oculodentodigital Dysplasia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 688)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ursodeoxycholic acid Approved, Investigational Phase 4 128-13-2 31401
2
Dalteparin Approved Phase 4 9005-49-6
3
Heparin Approved, Investigational Phase 4 9005-49-6 772 46507594
4
Enoxaparin Approved Phase 4 9005-49-6 772
5
Sodium citrate Approved, Investigational Phase 4 68-04-2
6
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
7
Bupropion Approved Phase 4 34911-55-2, 34841-39-9 444
8
Etodolac Approved, Investigational, Vet_approved Phase 4 41340-25-4 3308
9
tannic acid Approved Phase 4 1401-55-4
10
Benzocaine Approved, Investigational Phase 4 1994-09-7, 94-09-7 2337
11
Valsartan Approved, Investigational Phase 4 137862-53-4 60846
12
Angiotensin II Approved, Investigational Phase 4 68521-88-0, 4474-91-3, 11128-99-7 172198
13
Tranexamic Acid Approved Phase 4 1197-18-8 5526
14
Amoxicillin Approved, Vet_approved Phase 4 26787-78-0 33613
15
Metformin Approved Phase 4 657-24-9 14219 4091
16
Pioglitazone Approved, Investigational Phase 4 111025-46-8 4829
17
Metoclopramide Approved, Investigational Phase 4 364-62-5 4168
18
Sumatriptan Approved, Investigational Phase 4 103628-46-2 5358
19
Prochlorperazine Approved, Vet_approved Phase 4 1984-02-6, 58-38-8 4917
20
Remifentanil Approved Phase 4 132875-61-7 60815
21
Thrombin Approved, Investigational Phase 4
22
Zinc Approved, Investigational Phase 4 7440-66-6 32051
23
Clopidogrel Approved Phase 4 120202-66-6, 113665-84-2 60606
24
Metoprolol Approved, Investigational Phase 4 51384-51-1, 37350-58-6 4171
25
Sirolimus Approved, Investigational Phase 4 53123-88-9 5284616 6436030 46835353
26
Everolimus Approved Phase 4 159351-69-6 6442177 70789204
27
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
28
Clavulanate Approved, Vet_approved Phase 4 58001-44-8 5280980
29
Aminocaproic acid Approved, Investigational Phase 4 60-32-2 564
30
Iron Approved, Experimental Phase 4 7439-89-6, 15438-31-0 23925 27284
31
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
32
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 68602 5311068
33
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
34
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
35
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
36
Glyburide Approved Phase 4 10238-21-8 3488
37
Ondansetron Approved Phase 4 99614-02-5 4595
38
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
39
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
40
Azithromycin Approved Phase 4 83905-01-5 55185 447043
41
Sotalol Approved Phase 4 959-24-0, 3930-20-9 5253
42
Emtricitabine Approved, Investigational Phase 4 143491-57-0 60877
43
Bupivacaine Approved, Investigational Phase 4 38396-39-3, 2180-92-9 2474
44
Diphenhydramine Approved, Investigational Phase 4 147-24-0, 58-73-1 3100
45
Promethazine Approved, Investigational Phase 4 60-87-7 4927
46
Artemether Approved Phase 4 71963-77-4 119380 68911
47
Lumefantrine Approved Phase 4 82186-77-4 6437380
48
Allopurinol Approved Phase 4 315-30-0 2094
49
Febuxostat Approved Phase 4 144060-53-7 134018
50
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676

Interventional clinical trials:

(show top 50) (show all 799)
# Name Status NCT ID Phase Drugs
1 Evaluating the Adjunctive Effect of Stress Reduction Protocol in the Non-Surgical Periodontal Therapy of Chronic Periodontitis Subjects Associated With Stress: A Randomized Control Pilot Study Unknown status NCT02487862 Phase 4
2 Metformin Treatment for Preventing Gestational Diabetes in High-risk Patients Unknown status NCT00883259 Phase 4 Metformin
3 Atrial Fibrillation and Pericardial Drainage: Incidence of Postoperative Atrial Fibrillation According to the Type of Mediastinal Drainage Catheters Unknown status NCT02808897 Phase 4
4 Cholestatic Drug-induced Liver Injury: Correlation With Genotypes of UGT1A1 and 1A7, and Treatment Effect of Ursodeoxycholic Acid Unknown status NCT01141322 Phase 4 Ursodeoxycholic Acid;Placebo
5 Anemia Treatment in Inflammatory Bowel Disease: Predictive Factors of Response to Oral Iron Treatment Unknown status NCT02760940 Phase 4 oral liposomal iron
6 Laparo-endoscopic Single Site Cholecystectomy Versus Standard Laparoscopic Cholecystectomy Unknown status NCT01339325 Phase 4
7 Effect of Rosuvastatin Therapy on HDL2 Level and Antiatherosclerotic Reverse Cholesterol Transport Process in Chinses CAD Patients With Hyperlipidemia Unknown status NCT02593487 Phase 4 Rosuvastatin 10mg/d group;Rosuvastatin 20mg/d group
8 Comparison of Low-Molecular-Weight Heparin (LMWH) and Unfractionated Heparin (UFH) in Combination With Thrombolytic Treatment of Acute Massive Pulmonary Thromboembolism Unknown status NCT01956955 Phase 4 enoxaparin ,alteplase, unfractionated heparin
9 Pregnancy Rate by HCG Administration Versus Urinary LH Surge Method in Patients Undergoing IUI Completed NCT02638285 Phase 4 LH;HCG;Clomiphene
10 To Evaluate the Association Between Type 1 Diabetes Mellitus (T1DM) in Offspring With Positive Parental History of Diabetes Completed NCT03312478 Phase 4 Blood draw for insulin auto-anti body tests*
11 Preemptive Use of Etodolac on Tooth Sensitivity Caused by In-office Bleaching: a Randomized, Triple-blind, Controlled Clinical Trial Completed NCT02881619 Phase 4 Etodolac;Placebo
12 Effectiveness of Bupropion Used in Combination With the Nicotine Replacement Patch and Cognitive Behavioral Therapy for Treating Nicotine Dependent Individuals - 1 Completed NCT00142831 Phase 4 Pharmacotherapies for Smoking Cessation
13 Sevoflurane and Cardiac Protection in High Risk Patients Undergoing Cardiac Surgery. A Randomized Controlled Study. Completed NCT00821262 Phase 4 sevoflurane;propofol
14 Clinical Effectiveness of Quiropodiatry and Orthesis on Heel and Plantar Pain: Randomized Control Trial Completed NCT00888394 Phase 4
15 Influenza Vaccine Pilot Study in Severe Congestive Heart Failure Patients. The Flu Vaccination Heart Failure (FLUVACS II) Study Completed NCT00664339 Phase 4
16 Impact of Dexmedetomidine on Long-term Outcome in Elderly Patients After Noncardiac Surgery: 3-year Follow-up of a Randomized Controlled Trial Completed NCT02809937 Phase 4 dexmedetomidine;placebo
17 Valsartan for SUPpression of Plaque Volume and Restenosis After Drug-Eluting Stent (The VAL-SUPPRESS TRial) Completed NCT00589732 Phase 4 Valsartan
18 A 12-Week, Randomized, Double-Blind, Controlled Evaluation Followed by an Open-Label 12-Week Follow-up Period of the Impact of GeneSight Psychotropic on Response to Psychotropic Treatment in Outpatients Suffering From a Major Depressive Disorder (MDD) and Having Had - Within the Current Episode - an Inadequate Response to at Least One Psychotropic Medication Included in GeneSight Psychotropic Completed NCT02109939 Phase 4
19 Ictal and Interictal Inflammatory Markers in Migraine Completed NCT01138150 Phase 4 Treximet;Placebo
20 A Comparative Study, Randomized, Blinded, About the Effect of Pre-treatment With GnRH Analogues Versus Placebo in Infertile Patients With Endometriosis Undergoing in Vitro Fertilization Treatment Completed NCT01581359 Phase 4 Triptorelin acetate
21 Randomized and Single Blind Study Comparing Remifentanil Sedation Versus Propofol for Performing Bronchial Fibroscopies Under Intravenous Anesthesia Completed NCT01872754 Phase 4 1: Remifentanil;2: Propofol
22 Clopidogrel Or Metoprolol in Myocardial Infarction Trial Completed NCT00222573 Phase 4 clopidogrel and metoprolol
23 Modulation of Insulin Secretion and Insulin Sensitivity in Bangladeshi Type 2 Diabetic Subjects by an Insulin Sensitizer Pioglitazone and T2DM Association With PPARG Gene Polymorphism. Completed NCT01589445 Phase 4 Pioglitazone hydrochloride;Metformin hydrochloride
24 Balloon Angioplasty Versus Stenting With Nitinol Stents in the Superficial Femoral Artery Completed NCT00281060 Phase 4
25 A Prospective, Randomized, Double-blinded Single-site Control Study Comparing Blood Loss Prevention of Tranexamic Acid (TXA) to Epsilon Aminocaproic Acid (EACA) for Corrective Spinal Surgery Completed NCT00958581 Phase 4 Tranexamic Acid;Normal Saline;Epsilon aminocaproic acid
26 A Multi-center, Double Blinded Randomized Controlled Trial Evaluating Closure of the Dead Space After Mastectomy Using Sutures or Tissue Glue Versus Conventional Closure. Protocol for the Seroma Reduction After Mastectomy (SAM) Trial Completed NCT03305757 Phase 4 Artiss
27 "Evaluation of the Effectiveness and Longevity Post Whitening Carbamide Peroxide 10% in Smokers and Nonsmokers. Double-blind Multicenter Clinical Trial. " Completed NCT02017873 Phase 4 Peroxide Carbamide 10% - Dental bleaching treatment
28 Impact of Improved Financial Access to Health Care on Morbidity Due to Severe Malaria and Healthcare Utilization Among Children 6 Months to Five Years of Age in a Hyper Endemic Area in Ghana: a Randomized Controlled Trial Completed NCT00146692 Phase 4
29 A Multi-Center, Open Label Randomized Stratified Controlled Trial of the Effects of Blood Glucose Management on 90-Day All-Cause Mortality in a Heterogenous Population of Intensive Care Unit (ICU) Patients. Completed NCT00220987 Phase 4
30 Pneumonia in Children: Aetiology, Ideal Antibiotic Duration, Quality of Life Completed NCT02258763 Phase 4 Amoxicillin-Potassium Clavulanate Combination;Placebo
31 Randomized Clinical Trial Comparing a Medication, i.e., Sustained-Release Bupropion (Zyban®) With an Ultrashort (1 1/2 d) Manual-Based Psychotherapeutic Intervention, Psychodynamic Model Training® Completed NCT00484692 Phase 4 sustained-release bupropion (Zyban(R))
32 AID-trial:A Randomized Clinical Trial Comparing the Effect on Repeated Self-harm of Assertive Intervention and Standard Treatment After Deliberate Self-harm Completed NCT00700089 Phase 4
33 Evaluation of Late Clinical Events After Drug-eluting Versus Bare-metal Stents in Patients at Risk: BAsel Stent Kosten Effektivitäts Trial - PROspective Validation Examination Part II (BASKET-PROVE II) Completed NCT01166685 Phase 4
34 Melancholic Depression and Insomnia as Predictors of Response to Quetiapine in Patients With Major Depression Completed NCT03207438 Phase 4 Quetiapine 50 MG Extended Release Oral Tablet;Quetiapine Fumarate XR 150-300 mg;Placebos
35 Acceptability and Efficacy of Umbilical Cord Cleansing With 4% Chlorhexidine for the Prevention of Newborn Infections in Lira District, Northern Uganda: A Randomised Controlled Trial Recruiting NCT02606565 Phase 4
36 Glibenclamide in Aneurysmatic Subarachnoid Hemorrhage: A Prospective and Randomized Study Recruiting NCT03569540 Phase 4 Glibenclamide
37 Ketorolac as a Strategy for Reducing Post-operative Opioid Requirements in Children With Obstructive Sleep Apnea Undergoing Adenotonsillectomy: a Randomized Controlled Trial Recruiting NCT03467750 Phase 4 Ketorolac;Standard of Care
38 Neonates and Azithromycin, an Innovation in the Treatment of Children in Burkina Faso Recruiting NCT03682653 Phase 4 Azithromycin;Placebo
39 Community Health Azithromycin Trial in Burkina Faso Recruiting NCT03676764 Phase 4 Azithromycin;Placebos
40 Innovative Steroid Treatment to Reduce Asthma Development in Children After First-time Rhinovirus Induced Wheezing - the INSTAR Study Recruiting NCT03889743 Phase 4 Dexamethasone treatment during 3 days;placebo treatment during 3 days
41 High Dose Steroids for Liver Resection - Effect on Complications and Endothelial Function in the Immediate Postoperative Phase - a Randomized, Doubleblind, Controlled Trial Recruiting NCT03403517 Phase 4 Methylprednisolone;Dexamethasone
42 Intravenous Iron for Treatment of Anaemia Before Cardiac Surgery Recruiting NCT02632760 Phase 4 Ferric carboxymaltose;Placebo
43 A Pilot and Feasibility Study to Determine if a Common Atrial Fibrillation Risk Locus Modulates Differential Response to Antiarrhythmic Drugs Recruiting NCT02347111 Phase 4 Flecainide;Sotalol
44 Does Contrast-Enhanced Ultrasound Positively Influence Selection of Biopsy Sites When Evaluating Transplant Kidneys? Active, not recruiting NCT02625428 Phase 4 Optison
45 Use of Tenofovir/Emtricitabine With Immediate or Deferred Doxycycline 100mg PO Daily for Combination HIV and Syphilis Pre-exposure Prophylaxis in HIV-negative Men Who Have Sex With Men: a Pilot Study of Dual Daily HIV and Syphilis PrEP. (The DuDHS Trial). Active, not recruiting NCT02844634 Phase 4 Doxycycline 100mg PO daily x 12 months;Tenofovir/emtricitabine 200/300mg PO daily;Doxycycline 100mg PO daily x 6 months
46 Improving Postamputation Functioning by Decreasing Phantom Limb Pain and Opioid Use With Perioperative Continuous Peripheral Nerve Blocks: A Multicenter RCT Enrolling by invitation NCT03461120 Phase 4 Experimental continuous peripheral nerve blocks;Control continuous peripheral nerve blocks
47 Targeting Malaria High-risk Populations With Tailored Intervention Packages: A Study to Assess Feasibility and Effectiveness in Northern Namibia Enrolling by invitation NCT04094727 Phase 4 Presumptive treatment with Artemether-lumefantrine (AL)
48 The Impact of Urate-lowering Therapy on Kidney Function in Patients With/Without Gout Enrolling by invitation NCT03336203 Phase 4 Febuxostat 80 MG Oral Tablet or Allopurinol 300 MG Oral Tablet
49 The Use of Intra-articular Corticosteroid Injection to Treat Osteoarthritis of the Carpometacarpal Joint: A Randomized Control Trial Not yet recruiting NCT04177433 Phase 4 Depo-Medrol Injectable Product;Saline
50 A Randomized, Placebo-controlled Trial of Oral Doxycycline for the Prevention of Syphilis in HIV-positive Men Who Have Sex With Men (MSM) Not yet recruiting NCT02864550 Phase 4 Doxycycline

Search NIH Clinical Center for Oculodentodigital Dysplasia

Cochrane evidence based reviews: oculodentodigital dysplasia

Genetic Tests for Oculodentodigital Dysplasia

Genetic tests related to Oculodentodigital Dysplasia:

# Genetic test Affiliating Genes
1 Oculodentodigital Dysplasia 29 GJA1

Anatomical Context for Oculodentodigital Dysplasia

MalaCards organs/tissues related to Oculodentodigital Dysplasia:

40
Eye, Testes, Heart, Lung, Brain, Kidney, Breast

Publications for Oculodentodigital Dysplasia

Articles related to Oculodentodigital Dysplasia:

(show top 50) (show all 198)
# Title Authors PMID Year
1
A novel GJA1 mutation causes oculodentodigital dysplasia without syndactyly. 54 61 56 6
15637728 2005
2
Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia. 54 61 56 6
12457340 2003
3
Oculodentodigital dysplasia: new ocular findings and a novel connexin 43 mutation. 61 56 6
21670345 2011
4
Skin changes in oculo-dento-digital dysplasia are correlated with C-terminal truncations of connexin 43. 61 56 6
17256797 2007
5
A novel GJA 1 mutation in oculo-dento-digital dysplasia with curly hair and hyperkeratosis. 61 56 6
16709485 2006
6
A 2-bp deletion in the GJA1 gene is associated with oculo-dento-digital dysplasia with palmoplantar keratoderma. 61 56 6
15551259 2005
7
Novel Connexin 43 (GJA1) mutation causes oculo-dento-digital dysplasia with curly hair. 61 56 6
15108203 2004
8
Oculodentodigital dysplasia. Four new reports and a literature review. 61 56 6
220941 1979
9
A novel mutation in GJA1 causing oculodentodigital syndrome and primary lymphoedema in a three generation family. 56 6
23550541 2013
10
Autosomal dominant simple microphthalmos. 56 6
7815444 1994
11
GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype. 54 61 56
19338053 2009
12
A novel GJA1 missense mutation in a Polish child with oculodentodigital dysplasia. 54 61 6
19638688 2009
13
Gap junction remodeling and cardiac arrhythmogenesis in a murine model of oculodentodigital dysplasia. 54 61 56
18077386 2007
14
Neurological manifestations of oculodentodigital dysplasia: a Cx43 channelopathy of the central nervous system? 61 56
24133447 2013
15
Ocular pathology relevant to glaucoma in a Gja1(Jrt/+) mouse model of human oculodentodigital dysplasia. 61 56
21273537 2011
16
Report of a black South African child with oculodentodigital dysplasia and a novel GJA1 gene mutation. 61 56
18412120 2008
17
A homozygous GJA1 gene mutation causes a Hallermann-Streiff/ODDD spectrum phenotype. 61 6
14974090 2004
18
Neurological manifestations of the oculodentodigital dysplasia syndrome. 61 56
12021949 2002
19
Linkage analysis narrows the critical region for oculodentodigital dysplasia to chromosome 6q22-q23. 61 6
10331943 1999
20
Central nervous system abnormalities in oculodentodigital dysplasia. 61 56
8897047 1996
21
Oculodentodigital dysplasia with cerebral white matter abnormalities in a two-generation family. 61 56
7677152 1995
22
Type III syndactyly and oculodentodigital dysplasia: a clinical spectrum. 61 56
8110413 1993
23
Oculodentodigital dysplasia syndrome associated with abnormal cerebral white matter. 61 56
1659191 1991
24
Oculodentodigital dysplasia and type III syndactyly: separate genetic entities or disease spectrum? 61 56
2157843 1990
25
Oculodentodigital dysplasia syndrome. Report of four cases. 61 56
197779 1977
26
A family with oculodentodigital dysplasia. 61 6
1057461 1975
27
Oculodentodigital dysplasia. Picture of the month. 61 6
4209752 1974
28
Oculodentodigital dysplasia. 61 56
5820606 1969
29
Oculodentodigital dysplasia. 61 56
13949300 1963
30
A nonsense mutation in the first transmembrane domain of connexin 43 underlies autosomal recessive oculodentodigital syndrome. 6
16816024 2006
31
Hallerman-Streiff syndrome: patient with decreased GH and insulin-like growth factor-1. 6
14981729 2004
32
Oculo-dento-digital dysplasia (OMIM *164200). Full manifestation of the syndrome in a 9.5 year-old girl and type III syndactyly in the father. 56
12150221 2002
33
Localization of a gene for oculodentodigital syndrome to human chromosome 6q22-q24. 56
9002680 1997
34
Glaucoma in oculo-dento-osseous dysplasia. 6
2309863 1990
35
Three new cases of oculodentodigital (ODD) syndrome: development of the facial phenotype. 56
3935793 1985
36
Intracranial calcification in oculodento-osseous dysplasia. 56
6262936 1981
37
The question of hypertelorism in oculodentoosseous dysplasia. 56
6794368 1981
38
Hereditary spastic paraplegia with neurogenic bladder disturbances and syndactylia. 56
6249060 1980
39
Older paternal age and fresh gene mutation: data on additional disorders. 56
1110452 1975
40
The oculo-dento-digital dysplasia syndrome. 56
4957134 1966
41
A HEREDITARY SYNDROME: "DYSPLASIA OCULODENTODIGITALIS. 56
14089388 1964
42
Familial metaphysial dysplasia. 56
13513655 1958
43
A case of oculodentodigital dysplasia syndrome with novel GJA1 gene mutation. 54 61
19847613 2009
44
Loss of connexin43-mediated gap junctional coupling in the mesenchyme of limb buds leads to altered expression of morphogens in mice. 54 61
19439426 2009
45
A dominant loss-of-function GJA1 (Cx43) mutant impairs parturition in the mouse. 54 61
19176884 2009
46
Oogenesis defects in a mutant mouse model of oculodentodigital dysplasia. 54 61
19259389 2009
47
Ocular manifestations in oculodentodigital dysplasia resulting from a heterozygous missense mutation (L113P) in GJA1 (connexin 43). 54 61
18425059 2009
48
Oculodentodigital dysplasia: disease spectrum in an eight-year-old boy, his parents and a sibling. 54 61
19725242 2009
49
ODDD-linked Cx43 mutants reduce endogenous Cx43 expression and function in osteoblasts and inhibit late stage differentiation. 54 61
18269311 2008
50
Closing the gap on autosomal dominant connexin-26 and connexin-43 mutants linked to human disease. 54 61
18089569 2008

Variations for Oculodentodigital Dysplasia

ClinVar genetic disease variations for Oculodentodigital Dysplasia:

6 (show top 50) (show all 55) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GJA1 NM_000165.5(GJA1):c.50A>C (p.Tyr17Ser)SNV Pathogenic 16982 rs104893961 6:121768043-121768043 6:121446897-121446897
2 GJA1 NM_000165.5(GJA1):c.52T>C (p.Ser18Pro)SNV Pathogenic 16983 rs104893962 6:121768045-121768045 6:121446899-121446899
3 GJA1 NM_000165.5(GJA1):c.61G>A (p.Gly21Arg)SNV Pathogenic 16984 rs104893963 6:121768054-121768054 6:121446908-121446908
4 GJA1 NM_000165.5(GJA1):c.154_156dup (p.Phe52dup)duplication Pathogenic 16986 6:121768146-121768147 6:121447000-121447001
5 GJA1 NM_000165.5(GJA1):c.286G>A (p.Val96Met)SNV Pathogenic 16988 rs28931601 6:121768279-121768279 6:121447133-121447133
6 GJA1 NM_000165.5(GJA1):c.778_779TG[1] (p.Cys260fs)short repeat Pathogenic 16989 6:121768771-121768772 6:121447625-121447626
7 GJA1 NM_000165.5(GJA1):c.581A>C (p.His194Pro)SNV Pathogenic 16992 rs104893966 6:121768574-121768574 6:121447428-121447428
8 GJA1 NM_000165.5(GJA1):c.32T>C (p.Leu11Pro)SNV Pathogenic 16993 rs121912969 6:121768025-121768025 6:121446879-121446879
9 GJA1 NM_000165.5(GJA1):c.689_690del (p.Tyr230fs)deletion Pathogenic 16994 6:121768681-121768682 6:121447535-121447536
10 GJA1 GJA1, 12-BP DEL, NT120deletion Pathogenic 29667
11 GJA1 NM_000165.5(GJA1):c.31C>T (p.Leu11Phe)SNV Pathogenic 29668 rs387906616 6:121768024-121768024 6:121446878-121446878
12 GJA1 NM_000165.5(GJA1):c.617A>G (p.Lys206Arg)SNV Pathogenic 88726 rs397518464 6:121768610-121768610 6:121447464-121447464
13 GJA1 NM_000165.5(GJA1):c.119C>T (p.Ala40Val)SNV Pathogenic 435323 rs1554200992 6:121768112-121768112 6:121446966-121446966
14 GJA1 NM_000165.5(GJA1):c.646G>T (p.Val216Leu)SNV Pathogenic 435325 rs1554201043 6:121768639-121768639 6:121447493-121447493
15 GJA1 NM_000165.5(GJA1):c.443G>A (p.Arg148Gln)SNV Likely pathogenic 435324 rs962041031 6:121768436-121768436 6:121447290-121447290
16 GJA1 NM_000165.5(GJA1):c.226C>A (p.Arg76Ser)SNV Likely pathogenic 16997 rs267606845 6:121768219-121768219 6:121447073-121447073
17 GJA1 NM_000165.5(GJA1):c.65G>A (p.Gly22Glu)SNV Uncertain significance 16985 rs104893964 6:121768058-121768058 6:121446912-121446912
18 GJA1 NM_000165.5(GJA1):c.*47A>GSNV Uncertain significance 355164 rs886061010 6:121769189-121769189 6:121448043-121448043
19 GJA1 NM_000165.5(GJA1):c.*191G>ASNV Uncertain significance 355168 rs886061012 6:121769333-121769333 6:121448187-121448187
20 GJA1 NM_000165.5(GJA1):c.*1101T>CSNV Uncertain significance 355185 rs886061022 6:121770243-121770243 6:121449097-121449097
21 GJA1 NM_000165.5(GJA1):c.-161G>TSNV Uncertain significance 355155 rs764033415 6:121756834-121756834 6:121435688-121435688
22 GJA1 NM_000165.5(GJA1):c.*163G>ASNV Uncertain significance 355166 rs886061011 6:121769305-121769305 6:121448159-121448159
23 GJA1 NM_000165.5(GJA1):c.*773deldeletion Uncertain significance 355178 rs397698276 6:121769906-121769906 6:121448760-121448760
24 GJA1 NM_000165.5(GJA1):c.*1043T>CSNV Uncertain significance 355183 rs886061021 6:121770185-121770185 6:121449039-121449039
25 GJA1 NM_000165.5(GJA1):c.-188G>TSNV Uncertain significance 355154 rs886061008 6:121756807-121756807 6:121435661-121435661
26 GJA1 NM_000165.5(GJA1):c.270C>G (p.Leu90=)SNV Uncertain significance 355159 rs886061009 6:121768263-121768263 6:121447117-121447117
27 GJA1 NM_000165.5(GJA1):c.*694T>CSNV Uncertain significance 355175 rs886061016 6:121769836-121769836 6:121448690-121448690
28 GJA1 NM_000165.5(GJA1):c.*916_*918deldeletion Uncertain significance 355179 rs886061018 6:121770058-121770060 6:121448912-121448914
29 GJA1 NM_000165.5(GJA1):c.565del (p.Arg189fs)deletion Uncertain significance 802259 6:121768555-121768555 6:121447409-121447409
30 GJA1 NM_000165.5(GJA1):c.1015G>A (p.Asp339Asn)SNV Uncertain significance 355162 rs772121642 6:121769008-121769008 6:121447862-121447862
31 GJA1 NM_000165.5(GJA1):c.*529C>GSNV Uncertain significance 355172 rs886061013 6:121769671-121769671 6:121448525-121448525
32 GJA1 NM_000165.5(GJA1):c.*538G>ASNV Uncertain significance 355173 rs886061014 6:121769680-121769680 6:121448534-121448534
33 GJA1 NM_000165.5(GJA1):c.*635C>TSNV Uncertain significance 355174 rs886061015 6:121769777-121769777 6:121448631-121448631
34 GJA1 NM_000165.5(GJA1):c.*1020_*1021deldeletion Uncertain significance 355181 rs375943953 6:121770155-121770156 6:121449009-121449010
35 GJA1 NM_000165.5(GJA1):c.1128G>A (p.Arg376=)SNV Likely benign 355163 rs145215218 6:121769121-121769121 6:121447975-121447975
36 GJA1 NM_000165.5(GJA1):c.*119T>CSNV Likely benign 355165 rs72548742 6:121769261-121769261 6:121448115-121448115
37 GJA1 NM_000165.5(GJA1):c.*1018_*1021deldeletion Likely benign 355182 rs375943953 6:121770155-121770158 6:121449009-121449012
38 GJA1 NM_000165.5(GJA1):c.456G>A (p.Leu152=)SNV Likely benign 355160 rs72548741 6:121768449-121768449 6:121447303-121447303
39 GJA1 NM_000165.5(GJA1):c.*214G>ASNV Likely benign 355169 rs549064986 6:121769356-121769356 6:121448210-121448210
40 GJA1 NM_000165.5(GJA1):c.*772_*773dupduplication Likely benign 355177 rs397698276 6:121769905-121769906 6:121448759-121448760
41 GJA1 NM_000165.5(GJA1):c.-16-12T>ASNV Likely benign 355158 rs56199702 6:121767966-121767966 6:121446820-121446820
42 GJA1 NM_000165.5(GJA1):c.-135C>TSNV Likely benign 355156 rs539558089 6:121756860-121756860 6:121435714-121435714
43 GJA1 NM_000165.5(GJA1):c.-67C>GSNV Likely benign 355157 rs111581053 6:121756928-121756928 6:121435782-121435782
44 GJA1 NM_000165.5(GJA1):c.*243A>GSNV Likely benign 355170 rs139128953 6:121769385-121769385 6:121448239-121448239
45 GJA1 NM_000165.5(GJA1):c.*285A>TSNV Likely benign 355171 rs72548748 6:121769427-121769427 6:121448281-121448281
46 GJA1 NM_000165.5(GJA1):c.*1077T>CSNV Likely benign 355184 rs528853645 6:121770219-121770219 6:121449073-121449073
47 GJA1 NM_000165.5(GJA1):c.717G>A (p.Arg239=)SNV Benign/Likely benign 137482 rs57946868 6:121768710-121768710 6:121447564-121447564
48 GJA1 NM_000165.5(GJA1):c.758C>T (p.Ala253Val)SNV Benign/Likely benign 137483 rs17653265 6:121768751-121768751 6:121447605-121447605
49 GJA1 NM_000165.5(GJA1):c.837G>A (p.Ser279=)SNV Benign/Likely benign 355161 rs67407537 6:121768830-121768830 6:121447684-121447684
50 GJA1 NM_000165.5(GJA1):c.*173G>ASNV Benign 355167 rs72548744 6:121769315-121769315 6:121448169-121448169

UniProtKB/Swiss-Prot genetic disease variations for Oculodentodigital Dysplasia:

73 (show all 44)
# Symbol AA change Variation ID SNP ID
1 GJA1 p.Arg148Gln VAR_014095 rs962041031
2 GJA1 p.Tyr17Ser VAR_015747 rs104893961
3 GJA1 p.Ser18Pro VAR_015748 rs104893962
4 GJA1 p.Gly21Arg VAR_015749 rs104893963
5 GJA1 p.Gly22Glu VAR_015750 rs104893964
6 GJA1 p.Lys23Thr VAR_015751
7 GJA1 p.Ala40Val VAR_015752 rs155420099
8 GJA1 p.Gln49Lys VAR_015753
9 GJA1 p.Arg76Ser VAR_015755 rs267606845
10 GJA1 p.Leu90Val VAR_015756
11 GJA1 p.Tyr98Cys VAR_015757
12 GJA1 p.Lys102Asn VAR_015758 rs155420101
13 GJA1 p.Ile130Thr VAR_015759 rs155420101
14 GJA1 p.Lys134Glu VAR_015760
15 GJA1 p.Gly138Arg VAR_015761
16 GJA1 p.Arg202His VAR_015762 rs750294638
17 GJA1 p.Val216Leu VAR_015763 rs155420104
18 GJA1 p.Ser27Pro VAR_038356
19 GJA1 p.Ile31Met VAR_038357
20 GJA1 p.Ser69Tyr VAR_038358
21 GJA1 p.Leu113Pro VAR_038359
22 GJA1 p.Lys134Asn VAR_038360
23 GJA1 p.Gly2Val VAR_058990
24 GJA1 p.Leu7Val VAR_058991
25 GJA1 p.Leu11Pro VAR_058992 rs121912969
26 GJA1 p.Gln49Pro VAR_058994
27 GJA1 p.Pro59His VAR_058996
28 GJA1 p.His95Arg VAR_058998
29 GJA1 p.Val96Ala VAR_058999
30 GJA1 p.Val96Glu VAR_059000
31 GJA1 p.Val96Met VAR_059001 rs28931601
32 GJA1 p.Leu106Pro VAR_059002
33 GJA1 p.Glu110Asp VAR_059003
34 GJA1 p.Met147Thr VAR_059004 rs105751887
35 GJA1 p.Thr154Ala VAR_059005
36 GJA1 p.Thr154Asn VAR_059006
37 GJA1 p.His194Pro VAR_059008 rs104893966
38 GJA1 p.Ser201Phe VAR_059009
39 GJA1 p.Ser220Tyr VAR_059010
40 GJA1 p.Lys206Arg VAR_070440 rs397518464
41 GJA1 p.Asp47His VAR_071009
42 GJA1 p.Ser86Tyr VAR_071010
43 GJA1 p.Leu106Arg VAR_071011
44 GJA1 p.Leu11Ile VAR_078238

Expression for Oculodentodigital Dysplasia

Search GEO for disease gene expression data for Oculodentodigital Dysplasia.

Pathways for Oculodentodigital Dysplasia

Pathways related to Oculodentodigital Dysplasia according to GeneCards Suite gene sharing:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.27 TJP1 GJD2 GJC2 GJC1 GJB6 GJB4
2
Show member pathways
12.67 TJP1 GJD2 GJC2 GJC1 GJB6 GJB4
3
Show member pathways
12.46 GJD2 GJC2 GJC1 GJB6 GJB4 GJB3
4
Show member pathways
12.4 TJP1 GJD2 GJC1 GJB3 GJB2 GJB1
5 11.76 TJP1 PANX1 GJA1
6 11.6 TJP1 GJD2 GJA1
7
Show member pathways
11.46 TJP1 GJD2 GJC2 GJC1 GJB6 GJB4
8 11.21 TJP1 GJA5 GJA4 GJA1
9
Show member pathways
10.67 PANX2 PANX1 GJD2 GJC1
10
Show member pathways
10.56 GJB2 GJB1 GJA1
11
Show member pathways
10.23 TJP1 GJA1

GO Terms for Oculodentodigital Dysplasia

Cellular components related to Oculodentodigital Dysplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.32 TJP1 PANX3 PANX2 PANX1 GJD2 GJC3
2 integral component of membrane GO:0016021 10.25 PANX3 PANX2 PANX1 GJD2 GJC3 GJC2
3 plasma membrane GO:0005886 10.19 TJP1 PANX3 PANX2 PANX1 GJD2 GJC2
4 integral component of plasma membrane GO:0005887 10 GJB4 GJB2 GJA8 GJA5 GJA4 GJA3
5 connexin complex GO:0005922 10 GJD2 GJC3 GJC2 GJC1 GJB6 GJB4
6 cell junction GO:0030054 9.91 TJP1 PANX3 PANX2 PANX1 GJD2 GJC3
7 intercalated disc GO:0014704 9.71 TJP1 GJC1 GJA5 GJA1
8 gap junction GO:0005921 9.58 TJP1 PANX3 PANX2 PANX1 GJD2 GJC3
9 tight junction GO:0070160 9.43 TJP1 GJA1

Biological processes related to Oculodentodigital Dysplasia according to GeneCards Suite gene sharing:

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 cell-cell signaling GO:0007267 9.93 PANX3 PANX2 PANX1 GJD2 GJC2 GJC1
2 response to lipopolysaccharide GO:0032496 9.87 TJP1 GJB6 GJB2 GJA1
3 sensory perception of sound GO:0007605 9.85 TJP1 GJC3 GJB6 GJB2
4 response to ischemia