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ODDD
MCID: OCL013
MIFTS: 67

Oculodentodigital Dysplasia (ODDD)

Categories: Bone diseases, Cardiovascular diseases, Eye diseases, Fetal diseases, Genetic diseases, Oral diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Oculodentodigital Dysplasia

About this section

MalaCards integrated aliases for Oculodentodigital Dysplasia:

Name: Oculodentodigital Dysplasia 57 12 20 43 58 73 36 29 13 54 6 44 15 39
Odd Syndrome 57 12 20 43 73
Oculodentoosseous Dysplasia 57 43 58 73
Oddd 57 20 43 73
Oculo-Dento-Digital Dysplasia 20 43 73
Oculodentodigital Syndrome 20 43 73
Odod 57 43 73
Oculo-Dento-Digital Syndrome 20 73
Oculodentodigital Dysplasia Syndrome 54
Oculodentoosseous Dysplasia; Odod 57
Osseous-Oculo-Dental Dysplasia 43
Oculo Dento Digital Dysplasia 74
Oculo-Dento-Osseous Dysplasia 43
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®:

57 (Updated 05-Mar-2021)
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:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Eye diseases Cardiovascular diseases Bone diseases Skin diseases Oral diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare eye diseases
Rare circulatory system diseases
Rare bone diseases
Rare skin diseases
Developmental anomalies during embryogenesis
Rare odontological diseases


Sources

Summaries for Oculodentodigital Dysplasia

About this section
MedlinePlus Genetics : 43 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 syndactyly, type iii 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 Ketamine and Etomidate have been mentioned in the context of this disorder. Affiliated tissues include eye, bone and cerebellum, and related phenotypes are carious teeth and cleft palate

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

GARD : 20 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® : 57 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) (Updated 05-Mar-2021)

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...

Sources

Related Diseases for Oculodentodigital Dysplasia

About this section

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 611)
# Related Disease Score Top Affiliating Genes
1 syndactyly, type iii 32.0 GJC1 GJA1
2 hypotrichosis 30.4 GJB4 GJB3 GJB2 GJA1
3 palmoplantar keratosis 30.3 GJB4 GJB3 GJB2 GJA1
4 chronic closed-angle glaucoma 30.3 PANX3 PANX2
5 hallermann-streiff syndrome 30.2 GJC2 GJC1 GJB1 GJA1
6 keratosis 30.2 GJB3 GJB2 GJA1
7 drug-induced hearing loss 29.8 GJB3 GJB2
8 skin disease 29.5 GJB6 GJB4 GJB3 GJB2 GJA1
9 ectodermal dysplasia 29.5 TWIST2 GJB6 GJB4 GJB3 GJB2 GJA1
10 erythrokeratodermia variabilis et progressiva 1 27.6 GJC3 GJC2 GJC1 GJB6 GJB4 GJB3
11 oculodentodigital dysplasia, autosomal recessive 11.7
12 fraser syndrome 1 11.3
13 oculodentoosseous dysplasia recessive 11.2
14 oculodentodigital dysplasia dominant 11.2
15 ego-dystonic sexual orientation 11.1
16 trichodentoosseous syndrome 11.1
17 chromosome 2q35 duplication syndrome 10.7
18 microphthalmia 10.5
19 ainhum 10.4 GJB4 GJB2
20 spastic paraparesis 10.3
21 x-linked charcot-marie-tooth disease 10.3 GJB2 GJB1
22 1q21.1 recurrent microdeletion 10.3 GJA8 GJA5
23 immature cataract 10.3 GJA8 GJA3
24 ataxia and polyneuropathy, adult-onset 10.2
25 intraocular pressure quantitative trait locus 10.2
26 deafness, autosomal dominant 2b 10.2 GJB3 GJB2
27 cataract 30, multiple types 10.2 GJA8 GJA3
28 atrioventricular septal defect 10.2 GJC1 GJA5 GJA1
29 body mass index quantitative trait locus 11 10.2
30 body mass index quantitative trait locus 9 10.2
31 body mass index quantitative trait locus 8 10.2
32 body mass index quantitative trait locus 1 10.2
33 body mass index quantitative trait locus 4 10.2
34 body mass index quantitative trait locus 10 10.2
35 body mass index quantitative trait locus 7 10.2
36 body mass index quantitative trait locus 12 10.2
37 body mass index quantitative trait locus 14 10.2
38 body mass index quantitative trait locus 18 10.2
39 body mass index quantitative trait locus 19 10.2
40 deafness, autosomal recessive 91 10.2 GJB3 GJB2
41 persistent hyperplastic primary vitreous 10.2
42 cataract 14, multiple types 10.2 GJA8 GJA3
43 deafness, autosomal dominant 2a 10.2 GJB3 GJB2
44 3-methylglutaconic aciduria, type iii 10.2
45 hypospadias 10.2
46 erythrokeratoderma ''en cocardes'' 10.2
47 hypotrichosis-deafness syndrome 10.2 GJB4 GJB3 GJB2
48 nonsyndromic hearing loss and deafness, dfna3 10.2 GJB6 GJB2
49 branchiootic syndrome 1 10.2
50 neurogenic bladder 10.2

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



Diseases related to Oculodentodigital Dysplasia
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Symptoms & Phenotypes for Oculodentodigital Dysplasia

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Human phenotypes related to Oculodentodigital Dysplasia:

58 31 (show top 50) (show all 113)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 carious teeth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000670
2 cleft palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0000175
3 clinodactyly of the 5th finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0004209
4 abnormality of dental enamel 58 31 hallmark (90%) Very frequent (99-80%) HP:0000682
5 reduced number of teeth 58 31 hallmark (90%) Very frequent (99-80%) HP:0009804
6 finger syndactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0006101
7 narrow nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000446
8 microcornea 58 31 hallmark (90%) Very frequent (99-80%) HP:0000482
9 toe syndactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001770
10 underdeveloped nasal alae 58 31 hallmark (90%) Very frequent (99-80%) HP:0000430
11 broad columella 58 31 hallmark (90%) Very frequent (99-80%) HP:0010761
12 premature loss of primary teeth 58 31 hallmark (90%) Very frequent (99-80%) HP:0006323
13 hyperreflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001347
14 ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0001251
15 dysarthria 58 31 frequent (33%) Frequent (79-30%) HP:0001260
16 gait disturbance 58 31 frequent (33%) Frequent (79-30%) HP:0001288
17 cerebral calcification 58 31 frequent (33%) Frequent (79-30%) HP:0002514
18 muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0001324
19 cataract 58 31 frequent (33%) Frequent (79-30%) HP:0000518
20 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
21 mandibular prognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000303
22 abnormal cortical bone morphology 58 31 frequent (33%) Frequent (79-30%) HP:0003103
23 short nose 58 31 frequent (33%) Frequent (79-30%) HP:0003196
24 visual impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000505
25 optic atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0000648
26 abnormality of the metaphysis 58 31 frequent (33%) Frequent (79-30%) HP:0000944
27 myopia 58 31 frequent (33%) Frequent (79-30%) HP:0000545
28 abnormal fingernail morphology 58 31 frequent (33%) Frequent (79-30%) HP:0001231
29 external ear malformation 58 31 frequent (33%) Frequent (79-30%) HP:0008572
30 glaucoma 58 31 frequent (33%) Frequent (79-30%) HP:0000501
31 conductive hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000405
32 aplasia/hypoplasia of the cerebellum 58 31 frequent (33%) Frequent (79-30%) HP:0007360
33 high forehead 58 31 frequent (33%) Frequent (79-30%) HP:0000348
34 high hypermetropia 58 31 frequent (33%) Frequent (79-30%) HP:0008499
35 hypotelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000601
36 camptodactyly of finger 58 31 frequent (33%) Frequent (79-30%) HP:0100490
37 median cleft lip 58 31 frequent (33%) Frequent (79-30%) HP:0000161
38 slow-growing hair 58 31 frequent (33%) Frequent (79-30%) HP:0002217
39 mild global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0011342
40 spastic paraparesis 58 31 frequent (33%) Frequent (79-30%) HP:0002313
41 cranial hyperostosis 58 31 frequent (33%) Frequent (79-30%) HP:0004437
42 broad alveolar ridges 58 31 frequent (33%) Frequent (79-30%) HP:0000187
43 neurogenic bladder 58 31 occasional (7.5%) Frequent (79-30%) HP:0000011
44 curly hair 58 31 frequent (33%) Frequent (79-30%) HP:0002212
45 thin anteverted nares 58 31 frequent (33%) Frequent (79-30%) HP:0004495
46 aplasia/hypoplasia of the middle phalanges of the hand 58 31 frequent (33%) Frequent (79-30%) HP:0009843
47 sparse hair 31 frequent (33%) HP:0008070
48 seizure 31 frequent (33%) HP:0001250
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®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
seizures
spasticity
ataxia
dysarthria
hyperactive deep tendon reflexes
more
Head And Neck Head:
microcephaly

Head And Neck Mouth:
cleft palate
broad alveolar ridges
cleft lip

Skeletal Pelvis:
hip dislocation

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

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

Head And Neck Eyes:
cataract
glaucoma
microphthalmia
microcornea
epicanthal folds
more
Head And Neck Teeth:
microdontia
premature loss of teeth
selective tooth agenesis
enamel hypoplasia
taurodontism (reported in 1 patient)
more
Skeletal Limbs:
cubitus valgus
broad tubular bones

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

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 (Updated 05-Mar-2021)

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-1 9.6 GJB1
2 Decreased viability GR00055-A-2 9.6 GJB1
3 Decreased viability GR00240-S-1 9.6 GJA1
4 Decreased viability GR00249-S 9.6 GJA5 GJB1 PANX2
5 Decreased viability GR00381-A-1 9.6 GJA3 TWIST2
6 Decreased viability GR00386-A-1 9.6 GJA8 GJB4 GJB6 GJC3 PANX1 PANX3
7 Decreased viability GR00402-S-2 9.6 GJA3 GJA4 GJB1 GJB2 TWIST2

MGI Mouse Phenotypes related to Oculodentodigital Dysplasia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.16 GJA1 GJA4 GJA5 GJA8 GJB2 GJB3
2 homeostasis/metabolism MP:0005376 10.15 GJA1 GJA5 GJA8 GJB1 GJB2 GJB3
3 hematopoietic system MP:0005397 10.14 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
Sources

Drugs & Therapeutics for Oculodentodigital Dysplasia

About this section

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

(show top 50) (show all 158)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
2
Etomidate Approved Phase 4 33125-97-2 36339 667484
3
Vincristine Approved, Investigational Phase 4 2068-78-2, 57-22-7 5978
4
Levoleucovorin Approved, Investigational Phase 4 68538-85-2 149436
5
Methotrexate Approved Phase 4 1959-05-2, 59-05-2 126941
6
Cytarabine Approved, Investigational Phase 4 147-94-4 6253
7
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
8
Mercaptopurine Approved Phase 4 50-44-2 667490
9
Povidone-iodine Approved Phase 4 25655-41-8
10
Iodine Approved, Investigational Phase 4 7553-56-2 807
11
Ethanol Approved Phase 4 64-17-5 702
12
Chlorhexidine Approved, Vet_approved Phase 4 55-56-1 9552079 2713
13
Povidone Approved Phase 4 9003-39-8 131751496
14
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
15
Cadexomer iodine Experimental Phase 4 94820-09-4
16 Hypnotics and Sedatives Phase 4
17 Anesthetics Phase 4
18 Excitatory Amino Acid Antagonists Phase 4
19 Anesthetics, Dissociative Phase 4
20 Anesthetics, Intravenous Phase 4
21 Anesthetics, General Phase 4
22 Folic Acid Antagonists Phase 4
23 Antimitotic Agents Phase 4
24 Vitamin B Complex Phase 4
25 Anti-Infective Agents Phase 4
26 Antiviral Agents Phase 4
27 Tubulin Modulators Phase 4
28 Vitamin B9 Phase 4
29 Dermatologic Agents Phase 4
30 Folate Phase 4
31 Plasma Substitutes Phase 4
32 Disinfectants Phase 4
33 Anti-Infective Agents, Local Phase 4
34 Chlorhexidine gluconate Phase 4
35 Blood Substitutes Phase 4
36 Pharmaceutical Solutions Phase 4
37
Melphalan Approved Phase 3 148-82-3 4053 460612
38
Pirfenidone Approved, Investigational Phase 3 53179-13-8 40632
39
Clopidogrel Approved Phase 3 120202-66-6, 113665-84-2 60606
40
Ticagrelor Approved Phase 3 274693-27-5 9871419
41 HIV Protease Inhibitors Phase 3
42
protease inhibitors Phase 3
43 Analgesics, Non-Narcotic Phase 3
44 Anti-Inflammatory Agents, Non-Steroidal Phase 3
45 Neurotransmitter Agents Phase 3
46 Platelet Aggregation Inhibitors Phase 3
47 Purinergic P2Y Receptor Antagonists Phase 3
48
Adapalene Approved Phase 2 106685-40-9 60164
49
Zinc oxide Approved Phase 2 1314-13-2
50
Zinc Approved, Investigational Phase 2 7440-66-6 32051

Interventional clinical trials:

(show top 50) (show all 62)
# Name Status NCT ID Phase Drugs
1 A Randomized Controlled Trial to Evaluate the Hemodynamic Effects of Ketamine Versus Etomidate During Rapid Sequence Intubation Unknown status NCT03545503 Phase 4 Etomidate;Ketamine
2 Prospective Study of Rituximab Combined With Chemotherapy for CD20+ Adult Acute Lymphoblastic Leukemia Completed NCT01358253 Phase 4 Cyclophosphamide;Doxorubicin;Vincristine;Dexamethasone;Cytarabine;Methotrexate;Rituximab;6-Mercaptopurine;Prednisone;L-asparaginase
3 The Efficacy of 2% Chlorhexidine Gluconate in 70% Alcohol Compared With 10% Povidone Iodine in Reducing Blood Culture Contamination in Pediatric Patients Completed NCT01919593 Phase 4 2% chlorhexidine gluconate in 70% alcohol;10%povidone iodine
4 Effects of Low-chlorine Vs High-chlorine Crystalloid Solutions in Septic Shock Adults Not yet recruiting NCT04365010 Phase 4 Sodium Bicarbonate Ringer's Injection;0.9% Sodium Chloride Injection
5 Iberoamerican Phase III International Study, Open, Multicenter, Randomized, Comparative of Thalidomide / Cyclophosphamide / Dexamethasone Versus Thalidomide / Dexamethasone Versus Thalidomide / Melphalan / Prednisone as Induction Therapy Followed by Maintenance Therapy With Thalidomide + Prednisone Versus Thalidomide Alone in Patients With Symptomatic Newly Diagnosed Multiple Myeloma Over 65years. Unknown status NCT01532856 Phase 3 Thalidomide, Cyclophosphamide, Dexamethasone;Thalidomide, Dexamethasone;Thalidomide, Melphalan, Prednisone
6 Effect of Treatment of Diabetic Foot Ulcers With Topic 8% 1-phenyl-5-methyl-2-[1h]-Pyridone (Pirfenidone) Combined With Modified Disulfur Diallyl Oxide (Odd-m) in Gel. Completed NCT02222376 Phase 3 Pirfenidone
7 A Randomised, Double-blind, Parallel Group, Phase 3, Efficacy and Safety Study of Ticagrelor Compared With Clopidogrel for Prevention of Vascular Events in Patients With Non-ST or ST Elevation Acute Coronary Syndromes (ACS) [PLATO- a Study of PLATelet Inhibition and Patient Outcomes] Completed NCT00391872 Phase 3 Ticagrelor;Clopidogrel
8 A Controlled N-of-1 Before-and-after Study to Determine Safety and Efficacy Triheptanoin in Patients With Glucose Transporter 1 Deficiency Syndrome Unknown status NCT02000960 Phase 2 Triheptanoin
9 Phase II Pilot Study to Evaluate The Efficacy of Adapalene 0.3% for Use in The Prevention and Treatment of Senile Purpura Unknown status NCT01485367 Phase 2 adapalene gel 0.3%
10 Rituximab and Hyper-CVAD (Cyclophosphamide, Vincristine, Adriamycin, and Dexamethasone) for Burkitt's and Burkitt's -Like Leukemia/Lymphoma Completed NCT00669877 Phase 2 Rituximab;Cyclophosphamide;Doxorubicin;Vincristine;Dexamethasone;G-CSF;Cytarabine;Methotrexate
11 A Phase II Randomized Study of Lenalidomide or Lenalidomide and Rituximab as Maintenance Therapy Following Standard Chemotherapy for Patients With High/High-intermediate Risk Diffuse Large B-Cell Lymphoma Completed NCT00765245 Phase 2 Lenalidomide;Lenalidomide;Rituximab
12 Use of Humanized CD25 (Anti-TAC) Monoclonal Antibody and Cyclosporine for the Treatment of Active Psoriasis. Completed NCT00050648 Phase 1, Phase 2 Daclizumab;Cyclosporine;cyclosporine and Daclizumab
13 A Phase II Study of Anakinra (IL-1 Receptor Antagonist) in Patients With Smoldering/Indolent Multiple Myeloma Completed NCT00635154 Phase 2 Dexamethasone acetate
14 A Multi-centre Randomised, Double-blind, Double-dummy Parallel Group Study of the Onset and Offset of Antiplatelet Effects of Ticagrelor Compared With Clopidogrel and Placebo With Aspirin as Background Therapy in Patients With Stable Coronary Artery Disease (CAD) Completed NCT00528411 Phase 2 Ticagrelor Tablets;Clopidogrel (over encapsulated) capsule;Aspirin Tablets
15 Phase II Study of Augmented Hyper-CVAD in Acute Lymphoblastic Leukemia Salvage Completed NCT00890656 Phase 2 Cyclophosphamide (CTX);Vincristine;Doxorubicin;Decadron;G-CSF;Methotrexate (MTX);Ara-C;Pegaspargase
16 PARPVAX: Parpvax: A Phase 1b/2, Open Label Study of Niraparib Plus Either Ipilimumab or Nivolumab in Patients With Advanced Pancreatic Cancer Whose Disease Has Not Progressed on Platinum-based Therapy Recruiting NCT03404960 Phase 1, Phase 2 Niraparib + Nivolumab;Niraparib + Ipilimumab
17 Aggressive Smoldering Curative Approach Evaluating Novel Therapies (ASCENT): A Phase 2 Trial of Induction, Consolidation, and Maintenance in Subjects With High Risk Smoldering Multiple Myeloma (SMM) Recruiting NCT03289299 Phase 2 Carfilzomib;Lenalidomide;Daratumumab;Dexamethasone
18 A Phase 1/2a Evaluation of the Safety and Efficacy of Adding AL3818 (Catequentinib) to Nivolumab in Solid Tumors Recruiting NCT04165330 Phase 1, Phase 2 AL3818;Nivolumab Injection
19 A Phase II Study of Neratinib Alone and in Combination With Fulvestrant in Metastatic HER2 Non-amplified But HER2 Mutant Breast Cancer Active, not recruiting NCT01670877 Phase 2 Neratinib;Fulvestrant;Trastuzumab
20 The Efficacy and Safety of Anlotinib Combined With Nivolumab as a Second-Line Treatment in Patients With Advanced Non-Small Cell Lung Cancer Not yet recruiting NCT04211896 Phase 2 Anlotinib;Nivolumab
21 A Phase 2A/2B Placebo-controlled Randomised Clinical Trial to Test the Ability of Triheptanoin to Protect Primary Airway Epithelial Cells Obtained From Participants With Ataxia-telangiectasia Against Death Induced by Glucose Deprivation Not yet recruiting NCT04513002 Phase 2
22 Phase II Pilot Efficacy Trial of the Combination Regimen Oncaspar/Doxil/Decadron (ODD) in Patients With Refractory Lymphoid Malignancies Terminated NCT00837200 Phase 2 Oncaspar, Doxil, Decadron
23 A Phase 2 Trial of Daily Alternating Thalidomide and Lenalidomide Plus Rituximab (ThRiL) for Patients With Previously Treated Waldenstrom Macroglobulinemia Terminated NCT01779167 Phase 2 Thalidomide;Lenalidomide;Rituximab
24 Phase II Subcutaneous VELCADE and Oral Cyclophosphamide-based Induction + Sequential VELCADE and Revlimid Maintenance for Newly Diagnosed Multiple Myeloma in Non-transplant Candidates: An Entirely Non-intravenous Regimen Terminated NCT01729338 Phase 2 Velcade;Cyclophosphamide;Revlimid
25 A Phase II, Single Arm Study Examining the Combination of Lenalidomide and Azacitidine (RA-CLL) for the Treatment of Relapsed/Refractory Chronic Lymphocytic Leukemia (CLL) and Small Lymphocytic Lymphoma (SLL) Terminated NCT01241786 Phase 2 Revlimid;Azacitidine
26 A Phase I Study of 5-FU (Plus Leucovorin) and Arsenic Trioxide for Patients With Refractory/Relapsed Metastatic Colorectal Carcinoma Completed NCT00449137 Phase 1 Arsenic trioxide;Fluorouracil;Leucovorin calcium
27 A Randomized Trial to Prevent HIV Among Gay Couples Recruiting NCT03189394 Phase 1
28 Phase I Combination of Pazopanib and Everolimus in PI3KCA Mutation Positive/PTEN Loss Patients With Advanced Solid Tumors Refractory to Standard Therapy Active, not recruiting NCT01430572 Phase 1 Pazopanib;Everolimus
29 Dose-Dense and Dose-Intense Alternating Irinotecan/Capecitabine and Oxaliplatin/Capecitabine: Phase I in Solid Tumors and Phase II With Bevacizumab a First-Line Therapy of Advanced Colorectal Cancer Terminated NCT00296062 Phase 1 capecitabine;irinotecan hydrochloride;oxaliplatin
30 Pilot Trial on Efficacy of Single Dose Perioperative Intravenous Dexamethasone for Pain Relief After Endoscopic Submucosal Dissection Unknown status NCT02037399 intravenous dexamethasone;intravenous normal saline
31 Two Distinct Training Methods for Healthy Heart in Low Social and Economical Society Unknown status NCT00738231
32 Safety, Effectiveness, and Mechanism of Fish Oil as Adjunct Treatment for Major Depressive Disorder - a 12-month Randomized, Placebo Controlled Clinical Trial Unknown status NCT03295708
33 Financial Incentives for Home-based Health Management: A Pilot Randomized Trial Completed NCT01282957
34 Encouraging Walking in Older Adults Completed NCT01282944
35 Association Between Temperament Dimensions and Awakening Salivary Cortisol Levels in Children and Adolescents With Attention Deficit Hyperactivity/Impulsivity Disorder (ADHD) Completed NCT04326543
36 Comparison Study of the Different Abbreviated Versions of the Geriatric Depression Scale (GDS) in Elderly With Neurocognitive Disorders Attending Social Responses Completed NCT04180683
37 Dietary Therapy of Mitochondrial Fatty Acids Oxidation. A Clinical Study of Treatment With Odd Carbons Medium-chain Fatty Acids Completed NCT00328159 Oil special 107 and MYGLIOL 810
38 Mediators, Moderators, and Treatment Outcomes With ODD Youth Completed NCT00510120
39 Evaluation of an Intervention to Reduce Preventive Misconception in HIV Vaccine Clinical Trials Completed NCT01049139
40 Pre-operative Radiograph of Deep Carious Lesions as a Predictive Tool for Pulpal Exposure. Completed NCT04607395
41 Iodophor-impregnated Versus Iodophor-free Adhesive Drapes for Prevention and Healing of Wound Infections After Total Hip Arthroplasty Completed NCT02707302
42 Family Groups to Reduce Youth Behavioral Difficulties Completed NCT00404911
43 Levosimendan for Reducing Veno-arterial ECMO Weaning Failure During Refractory Cardiogenic Shock: a Retrospective Propensity Score Analysis Completed NCT04323709
44 An Investigation Into the Effect of a Novel, Non Verbal, Cognitive Treatment on Functional Communication in Global Aphasia Completed NCT02545894
45 Conventional and Molecular Diagnostic Method for Patients With Suspected Urinary Tract Infections: Clinical, Economic, and Quality of Life Outcomes Completed NCT02623179
46 Efficiency of Diagnostic Strategy for Fast Track Lung Cancer Diagnosis. A Randomised Controlled Trial. Completed NCT01779726
47 Constraint-induced Movement Therapy to Improve Gait and Mobility of People With Chronic Stroke Completed NCT03114046
48 Effect of a Cognitive Distraction on Amount, Preference, and Memory of Food Consumed: a Randomized Crossover Exploratory Study Completed NCT04078607
49 Multimodal Analgesia With NSAID vs. Narcotics Alone After Shoulder Instability Surgery Completed NCT04018768
50 Assessment of a Proposed Microbiological Alert and Its Impact on a Sepsis Campaign Completed NCT02325258

Search NIH Clinical Center for Oculodentodigital Dysplasia

Cochrane evidence based reviews: oculodentodigital dysplasia

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Genetic Tests for Oculodentodigital Dysplasia

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Genetic tests related to Oculodentodigital Dysplasia:

# Genetic test Affiliating Genes
1 Oculodentodigital Dysplasia 29 GJA1
Sources

Anatomical Context for Oculodentodigital Dysplasia

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MalaCards organs/tissues related to Oculodentodigital Dysplasia:

40
Eye, Bone, Cerebellum, Heart, Liver, Brain, Skin
Sources

Publications for Oculodentodigital Dysplasia

About this section

Articles related to Oculodentodigital Dysplasia:

(show top 50) (show all 208)
# Title Authors PMID Year
1
A novel GJA1 mutation causes oculodentodigital dysplasia without syndactyly. 57 6 54 61
15637728 2005
2
Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia. 61 54 57 6
12457340 2003
3
Oculodentodigital dysplasia: new ocular findings and a novel connexin 43 mutation. 61 6 57
21670345 2011
4
Skin changes in oculo-dento-digital dysplasia are correlated with C-terminal truncations of connexin 43. 61 6 57
17256797 2007
5
A novel GJA 1 mutation in oculo-dento-digital dysplasia with curly hair and hyperkeratosis. 57 6 61
16709485 2006
6
A 2-bp deletion in the GJA1 gene is associated with oculo-dento-digital dysplasia with palmoplantar keratoderma. 61 6 57
15551259 2005
7
Novel Connexin 43 (GJA1) mutation causes oculo-dento-digital dysplasia with curly hair. 61 6 57
15108203 2004
8
Oculodentodigital dysplasia. Four new reports and a literature review. 6 57 61
220941 1979
9
A novel mutation in GJA1 causing oculodentodigital syndrome and primary lymphoedema in a three generation family. 57 6
23550541 2013
10
Autosomal dominant simple microphthalmos. 57 6
7815444 1994
11
GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype. 57 54 61
19338053 2009
12
A novel GJA1 missense mutation in a Polish child with oculodentodigital dysplasia. 6 54 61
19638688 2009
13
Gap junction remodeling and cardiac arrhythmogenesis in a murine model of oculodentodigital dysplasia. 57 54 61
18077386 2007
14
Neurological manifestations of oculodentodigital dysplasia: a Cx43 channelopathy of the central nervous system? 61 57
24133447 2013
15
Ocular pathology relevant to glaucoma in a Gja1(Jrt/+) mouse model of human oculodentodigital dysplasia. 57 61
21273537 2011
16
Report of a black South African child with oculodentodigital dysplasia and a novel GJA1 gene mutation. 61 57
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 57
12021949 2002
19
Linkage analysis narrows the critical region for oculodentodigital dysplasia to chromosome 6q22-q23. 6 61
10331943 1999
20
Central nervous system abnormalities in oculodentodigital dysplasia. 57 61
8897047 1996
21
Oculodentodigital dysplasia with cerebral white matter abnormalities in a two-generation family. 57 61
7677152 1995
22
Type III syndactyly and oculodentodigital dysplasia: a clinical spectrum. 61 57
8110413 1993
23
Oculodentodigital dysplasia syndrome associated with abnormal cerebral white matter. 57 61
1659191 1991
24
Oculodentodigital dysplasia and type III syndactyly: separate genetic entities or disease spectrum? 57 61
2157843 1990
25
Oculodentodigital dysplasia syndrome. Report of four cases. 61 57
197779 1977
26
A family with oculodentodigital dysplasia. 6 61
1057461 1975
27
Oculodentodigital dysplasia. Picture of the month. 61 6
4209752 1974
28
Oculodentodigital dysplasia. 61 57
5820606 1969
29
Oculodentodigital dysplasia. 61 57
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. 57
12150221 2002
33
Localization of a gene for oculodentodigital syndrome to human chromosome 6q22-q24. 57
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. 57
3935793 1985
36
Intracranial calcification in oculodento-osseous dysplasia. 57
6262936 1981
37
The question of hypertelorism in oculodentoosseous dysplasia. 57
6794368 1981
38
Hereditary spastic paraplegia with neurogenic bladder disturbances and syndactylia. 57
6249060 1980
39
Older paternal age and fresh gene mutation: data on additional disorders. 57
1110452 1975
40
The oculo-dento-digital dysplasia syndrome. 57
4957134 1966
41
A HEREDITARY SYNDROME: "DYSPLASIA OCULODENTODIGITALIS. 57
14089388 1964
42
Familial metaphysial dysplasia. 57
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. 61 54
19439426 2009
45
A dominant loss-of-function GJA1 (Cx43) mutant impairs parturition in the mouse. 61 54
19176884 2009
46
Oogenesis defects in a mutant mouse model of oculodentodigital dysplasia. 61 54
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. 61 54
19725242 2009
49
ODDD-linked Cx43 mutants reduce endogenous Cx43 expression and function in osteoblasts and inhibit late stage differentiation. 61 54
18269311 2008
50
The conditional connexin43G138R mouse mutant represents a new model of hereditary oculodentodigital dysplasia in humans. 61 54
18003637 2008
Sources

Variations for Oculodentodigital Dysplasia

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ClinVar genetic disease variations for Oculodentodigital Dysplasia:

6 (show top 50) (show all 112)
# 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.65G>A (p.Gly22Glu) SNV Pathogenic 16985 rs104893964 6:121768058-121768058 6:121446912-121446912
5 GJA1 NM_000165.5(GJA1):c.154_156dup (p.Phe52dup) Duplication Pathogenic 16986 rs1582558097 6:121768146-121768147 6:121447000-121447001
6 GJA1 NM_000165.5(GJA1):c.286G>A (p.Val96Met) SNV Pathogenic 16988 rs28931601 6:121768279-121768279 6:121447133-121447133
7 GJA1 NM_000165.5(GJA1):c.778_779TG[1] (p.Cys260fs) Microsatellite Pathogenic 16989 rs1582558666 6:121768771-121768772 6:121447625-121447626
8 GJA1 NM_000165.5(GJA1):c.581A>C (p.His194Pro) SNV Pathogenic 16992 rs104893966 6:121768574-121768574 6:121447428-121447428
9 GJA1 NM_000165.5(GJA1):c.32T>C (p.Leu11Pro) SNV Pathogenic 16993 rs121912969 6:121768025-121768025 6:121446879-121446879
10 GJA1 NM_000165.5(GJA1):c.689_690del (p.Tyr230fs) Deletion Pathogenic 16994 rs1582558514 6:121768681-121768682 6:121447535-121447536
11 GJA1 NM_000165.5(GJA1):c.97C>T (p.Arg33Ter) SNV Pathogenic 16995 rs121912970 6:121768090-121768090 6:121446944-121446944
12 GJA1 NM_000165.5(GJA1):c.227G>A (p.Arg76His) SNV Pathogenic 16996 rs267606844 6:121768220-121768220 6:121447074-121447074
13 GJA1 GJA1, 12-BP DEL, NT120 Deletion Pathogenic 29667
14 GJA1 NM_000165.5(GJA1):c.31C>T (p.Leu11Phe) SNV Pathogenic 29668 rs387906616 6:121768024-121768024 6:121446878-121446878
15 GJA1 NM_000165.5(GJA1):c.617A>G (p.Lys206Arg) SNV Pathogenic 88726 rs397518464 6:121768610-121768610 6:121447464-121447464
16 GJA1 NM_000165.5(GJA1):c.646G>T (p.Val216Leu) SNV Pathogenic 435325 rs1554201043 6:121768639-121768639 6:121447493-121447493
17 GJA1 NM_000165.5(GJA1):c.119C>T (p.Ala40Val) SNV Pathogenic 435323 rs1554200992 6:121768112-121768112 6:121446966-121446966
18 GJA1 NM_000165.5(GJA1):c.140A>T (p.Asp47Val) SNV Pathogenic 470213 rs1554200995 6:121768133-121768133 6:121446987-121446987
19 GJA1 NM_000165.5(GJA1):c.64G>A (p.Gly22Arg) SNV Pathogenic 844190 6:121768057-121768057 6:121446911-121446911
20 GJA1 NM_000165.5(GJA1):c.389T>C (p.Ile130Thr) SNV Pathogenic 470215 rs1554201017 6:121768382-121768382 6:121447236-121447236
21 GJA1 NM_000165.5(GJA1):c.412G>A (p.Gly138Ser) SNV Pathogenic 537756 rs1554201018 6:121768405-121768405 6:121447259-121447259
22 GJA1 NM_000165.5(GJA1):c.306G>C (p.Lys102Asn) SNV Pathogenic 537755 rs1554201011 6:121768299-121768299 6:121447153-121447153
23 GJA1 NM_000165.5(GJA1):c.53C>A (p.Ser18Ter) SNV Pathogenic 941060 6:121768046-121768046 6:121446900-121446900
24 GJA1 NM_000165.5(GJA1):c.413G>A (p.Gly138Asp) SNV Likely pathogenic 470216 rs1554201019 6:121768406-121768406 6:121447260-121447260
25 GJA1 NM_000165.5(GJA1):c.443G>A (p.Arg148Gln) SNV Likely pathogenic 435324 rs962041031 6:121768436-121768436 6:121447290-121447290
26 GJA1 NM_000165.5(GJA1):c.226C>A (p.Arg76Ser) SNV Likely pathogenic 16997 rs267606845 6:121768219-121768219 6:121447073-121447073
27 GJA1 NM_000165.5(GJA1):c.526A>G (p.Ile176Val) SNV Uncertain significance 237121 rs878853696 6:121768519-121768519 6:121447373-121447373
28 GJA1 NM_000165.5(GJA1):c.*916_*918del Deletion Uncertain significance 355179 rs886061018 6:121770058-121770060 6:121448912-121448914
29 GJA1 NM_000165.5(GJA1):c.*635C>T SNV Uncertain significance 355174 rs886061015 6:121769777-121769777 6:121448631-121448631
30 GJA1 NM_000165.5(GJA1):c.*1077T>C SNV Uncertain significance 355184 rs528853645 6:121770219-121770219 6:121449073-121449073
31 GJA1 NM_000165.5(GJA1):c.1015G>A (p.Asp339Asn) SNV Uncertain significance 355162 rs772121642 6:121769008-121769008 6:121447862-121447862
32 GJA1 NM_000165.5(GJA1):c.*773del Deletion Uncertain significance 355178 rs397698276 6:121769906-121769906 6:121448760-121448760
33 GJA1 NM_000165.5(GJA1):c.270C>G (p.Leu90=) SNV Uncertain significance 355159 rs886061009 6:121768263-121768263 6:121447117-121447117
34 GJA1 NM_000165.5(GJA1):c.*1101T>C SNV Uncertain significance 355185 rs886061022 6:121770243-121770243 6:121449097-121449097
35 GJA1 NM_000165.5(GJA1):c.*191G>A SNV Uncertain significance 355168 rs886061012 6:121769333-121769333 6:121448187-121448187
36 GJA1 NM_000165.5(GJA1):c.-161G>T SNV Uncertain significance 355155 rs764033415 6:121756834-121756834 6:121435688-121435688
37 GJA1 NM_000165.5(GJA1):c.*694T>C SNV Uncertain significance 355175 rs886061016 6:121769836-121769836 6:121448690-121448690
38 GJA1 NM_000165.5(GJA1):c.*1020_*1021del Deletion Uncertain significance 355181 rs375943953 6:121770155-121770156 6:121449009-121449010
39 GJA1 NM_000165.5(GJA1):c.296T>A (p.Val99Glu) SNV Uncertain significance 470214 rs1554201009 6:121768289-121768289 6:121447143-121447143
40 GJA1 NM_000165.5(GJA1):c.-188G>T SNV Uncertain significance 355154 rs886061008 6:121756807-121756807 6:121435661-121435661
41 GJA1 NM_000165.5(GJA1):c.*538G>A SNV Uncertain significance 355173 rs886061014 6:121769680-121769680 6:121448534-121448534
42 GJA1 NM_000165.5(GJA1):c.*163G>A SNV Uncertain significance 355166 rs886061011 6:121769305-121769305 6:121448159-121448159
43 GJA1 NM_000165.5(GJA1):c.*1043T>C SNV Uncertain significance 355183 rs886061021 6:121770185-121770185 6:121449039-121449039
44 GJA1 NM_000165.5(GJA1):c.*285A>T SNV Uncertain significance 355171 rs72548748 6:121769427-121769427 6:121448281-121448281
45 GJA1 NM_000165.5(GJA1):c.*214G>A SNV Uncertain significance 355169 rs549064986 6:121769356-121769356 6:121448210-121448210
46 GJA1 NM_000165.5(GJA1):c.*47A>G SNV Uncertain significance 355164 rs886061010 6:121769189-121769189 6:121448043-121448043
47 GJA1 NM_000165.5(GJA1):c.*529C>G SNV Uncertain significance 355172 rs886061013 6:121769671-121769671 6:121448525-121448525
48 GJA1 NM_000165.5(GJA1):c.129A>G (p.Ser43=) SNV Uncertain significance 904141 6:121768122-121768122 6:121446976-121446976
49 GJA1 NM_000165.5(GJA1):c.634T>A (p.Phe212Ile) SNV Uncertain significance 846056 6:121768627-121768627 6:121447481-121447481
50 GJA1 NM_000165.5(GJA1):c.65G>A (p.Gly22Glu) SNV Uncertain significance 16985 rs104893964 6:121768058-121768058 6:121446912-121446912

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

Sources

Expression for Oculodentodigital Dysplasia

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Search GEO for disease gene expression data for Oculodentodigital Dysplasia.
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Pathways for Oculodentodigital Dysplasia

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

# Super pathways Score Top Affiliating Genes
1
Vesicle-mediated transport 65
Show member pathways
 13.24 GJD2 GJC2 GJC1 GJB6 GJB4 GJB3
2
G-Beta Gamma Signaling 63
Show member pathways
 12.64 GJD2 GJC2 GJC1 GJB6 GJB4 GJB3
3
Myometrial Relaxation and Contraction Pathways 1
Show member pathways
 12.46 GJD2 GJC2 GJC1 GJB6 GJB4 GJB3
4
Development Slit-Robo signaling 23
Show member pathways
 12.36 GJD2 GJC1 GJB3 GJB2 GJB1 GJA8
5
Gap junction trafficking 65
Show member pathways
 11.43 GJD2 GJC2 GJC1 GJB6 GJB4 GJB3
6
Cell adhesion_Endothelial cell contacts by junctional mechanisms 23
11.11 GJA5 GJA4 GJA1
7
Transmission across Electrical Synapses 65
Show member pathways
 10.67 PANX2 PANX1 GJD2 GJC1
8
Transport of connexins along the secretory pathway 65
Show member pathways
 10.53 GJB2 GJB1 GJA1
Sources

GO Terms for Oculodentodigital Dysplasia

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

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.3 PANX3 PANX2 PANX1 GJD2 GJC3 GJC2
2 integral component of membrane GO:0016021 10.25 PANX3 PANX2 PANX1 GJD2 GJC3 GJC2
3 plasma membrane GO:0005886 10.19 PANX3 PANX2 PANX1 GJD2 GJC3 GJC2
4 connexin complex GO:0005922 10 GJD2 GJC3 GJC2 GJC1 GJB6 GJB4
5 integral component of plasma membrane GO:0005887 9.98 GJB4 GJB2 GJA8 GJA5 GJA4 GJA3
6 cell junction GO:0030054 9.89 PANX3 PANX2 PANX1 GJD2 GJC3 GJC2
7 intercalated disc GO:0014704 9.58 GJC1 GJA5 GJA1
8 gap junction GO:0005921 9.55 PANX3 PANX2 PANX1 GJD2 GJC3 GJC2

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 cell communication GO:0007154 10 GJD2 GJC3 GJC2 GJC1 GJB6 GJB4
2 transmembrane transport GO:0055085 9.89 PANX3 PANX2 PANX1 GJD2 GJC3 GJC2
3 response to ischemia GO:0002931 9.8 PANX2 PANX1 GJB2 GJA1
4 cell communication by electrical coupling GO:0010644 9.77 GJC2 GJB6 GJB2 GJA5 GJA1
5 cation transport GO:0006812 9.73 PANX3 PANX2 PANX1
6 gap junction assembly GO:0016264 9.73 GJC1 GJB6 GJB2 GJB1 GJA5 GJA1
7 gap junction-mediated intercellular transport GO:1990349 9.72 GJB6 GJB4 GJB2 GJA8 GJA3
8 positive regulation of interleukin-1 production GO:0032732 9.65 PANX3 PANX2 PANX1
9 epididymis development GO:1905867 9.63 GJB2 GJB1 GJA1
10 endothelium development GO:0003158 9.61 GJA5 GJA4 GJA1
11 decidualization GO:0046697 9.58 GJB2 GJA1
12 positive regulation of blood vessel diameter GO:0097755 9.58 GJA5 GJA1
13 AV node cell to bundle of His cell communication by electrical coupling GO:0086053 9.58 GJC3 GJC1 GJA5
14 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.57 GJA5 GJA1
15 atrial cardiac muscle cell action potential GO:0086014 9.55 GJC1 GJA1
16 cell-cell signaling GO:0007267 9.55 PANX3 PANX2 PANX1 GJD2 GJC3 GJC2
17 regulation of cell communication by electrical coupling GO:0010649 9.54 GJA5 GJA1
18 SA node cell to atrial cardiac muscle cell communication by electrical coupling GO:0086021 9.52 GJC1 GJA5
19 positive regulation of cell communication by chemical coupling GO:0010652 9.51 GJA5 GJA1

Molecular functions related to Oculodentodigital Dysplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 channel activity GO:0015267 9.58 PANX3 PANX2 PANX1
2 gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling GO:0086077 9.5 GJC3 GJC1 GJA5
3 gap junction channel activity GO:0005243 9.5 PANX1 GJD2 GJC3 GJC2 GJC1 GJB6
4 connexin binding GO:0071253 9.46 GJA5 GJA1
5 gap junction channel activity involved in cell communication by electrical coupling GO:1903763 9.46 GJC2 GJB6 GJB2 GJA1
6 gap junction channel activity involved in cardiac conduction electrical coupling GO:0086075 9.43 GJA5 GJA1
7 wide pore channel activity GO:0022829 9.43 PANX3 PANX2 PANX1
8 gap junction hemi-channel activity GO:0055077 9.43 PANX3 PANX2 PANX1 GJA5 GJA3 GJA1
9 gap junction channel activity involved in SA node cell-atrial cardiac muscle cell electrical coupling GO:0086020 9.37 GJC1 GJA5
Sources

Sources for Oculodentodigital Dysplasia

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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