ODDD
MCID: OCL013
MIFTS: 59

Oculodentodigital Dysplasia (ODDD) malady

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

Aliases & Classifications for Oculodentodigital Dysplasia

Aliases & Descriptions for Oculodentodigital Dysplasia:

Name: Oculodentodigital Dysplasia 54 12 50 24 25 56 66 29 13 52 42 14
Odd Syndrome 12 50 24 25 66
Oculodentoosseous Dysplasia 24 25 56 66
Oculo-Dento-Digital Dysplasia 50 25 66
Oculodentodigital Syndrome 50 25 66
Oddd 50 25 66
Oculo-Dento-Digital Syndrome 50 66
Odod 25 66
Oculodentodigital Dysplasia Syndrome 52
Osseous-Oculo-Dental Dysplasia 25
Oculo-Dento-Osseous Dysplasia 25
Meyer-Schwickerath Syndrome 56
Oddd Syndrome 56
Odds 66

Characteristics:

Orphanet epidemiological data:

56
oculodentodigital dysplasia
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal;

HPO:

32
oculodentodigital dysplasia:
Inheritance autosomal dominant inheritance
Onset and clinical course phenotypic variability


Classifications:



External Ids:

OMIM 54 164200
Disease Ontology 12 DOID:0060291
SNOMED-CT 64 31291009 38215007
Orphanet 56 ORPHA2710
UMLS via Orphanet 70 C0812437
ICD10 via Orphanet 34 Q87.8
MedGen 40 C0812437
UMLS 69 C0812437

Summaries for Oculodentodigital Dysplasia

OMIM : 54 Oculodentodigital syndrome is characterized by a typical facial appearance and variable involvement of the eyes,... (164200) more...

MalaCards based summary : Oculodentodigital Dysplasia, also known as odd syndrome, is related to erythrokeratodermia variabilis et progressiva and oculodentodigital dysplasia, autosomal recessive, and has symptoms including ataxia, seizures and muscle weakness. 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 Development Slit-Robo signaling. The drugs Verteporfin and Dermatologic Agents have been mentioned in the context of this disorder. Affiliated tissues include eye, skin and testes, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and reproductive system

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

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.

NIH Rare Diseases : 50 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.  last updated: 2/19/2017

UniProtKB/Swiss-Prot : 66 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 : 71 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 all 48)
id Related Disease Score Top Affiliating Genes
1 erythrokeratodermia variabilis et progressiva 29.0 GJA1 GJA4 GJB2 GJB4 LOR
2 oculodentodigital dysplasia, autosomal recessive 12.3
3 oculodentoosseous dysplasia recessive 11.9
4 oculodentodigital dysplasia dominant 11.9
5 oppositional defiant disorder 11.2
6 fraser syndrome 11.2
7 scalp-ear-nipple syndrome 11.0
8 syndactyly, type iii 10.9
9 ego-dystonic sexual orientation 10.9
10 optic disk drusen 10.9
11 pseudopapilledema 10.9
12 schizotypal personality disorder 10.9
13 syndactyly 10.2
14 persistent hyperplastic primary vitreous 10.1
15 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 10.1 GJA1 GJB2
16 hereditary thrombocytosis with transverse limb defect 10.1 GJB2 GJB4
17 klumpke paralysis 10.1 GJB2 GJB4
18 rheumatic heart disease 10.1 GJA1 GJA5
19 sinoatrial node disease 10.1 GJA4 GJA5
20 ehlers-danlos syndrome, type viib 10.1 GJB2 GJB4
21 familial periodic paralysis 10.0 GJA1 GJA5
22 cerebritis 10.0
23 mesenchymal chondrosarcoma 10.0 GJA1 GJB2
24 ectodermal dysplasia 2, clouston type 10.0 GJB2 LOR
25 penttinen-aula syndrome 10.0 GJA1 GJC2
26 troyer syndrome 10.0 GJA1 GJB2 GJB4
27 nonprogressive cerebellar atxia with mental retardation 10.0 GJA1 GJC2
28 breast leiomyoma 10.0 GJA1 GJB2
29 dementia, familial british 10.0 GJA1 GJB2 GJB4
30 carotid artery thrombosis 10.0 GJB2 LOR
31 harrod syndrome 9.9 GJA1 GJC2
32 lemierre's syndrome 9.9 GJA1 GJB2 LOR
33 richter's syndrome 9.8 GJB4 LOR
34 heart disease 9.8
35 diarrhea 9.8
36 keratosis 9.8
37 dysostosis 9.8
38 palmoplantar keratosis 9.8
39 paraplegia 9.8
40 hallermann-streiff syndrome 9.8
41 cleft lip 9.8
42 dilated cardiomyopathy 9.8
43 glioma 9.8
44 cardiomyopathy 9.8
45 spasticity 9.8
46 pseudomyotonia 9.7 GJA1 GJB2 GJB4 LOR
47 solitary bone cyst 9.7 GJA1 GJB2 GJB4 LOR
48 hypoplastic left heart syndrome 1 9.0 GJA1 GJA4 GJA5 GJB2 GJB4 GJC2

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



Diseases related to Oculodentodigital Dysplasia

Symptoms & Phenotypes for Oculodentodigital Dysplasia

Symptoms by clinical synopsis from OMIM:

164200

Clinical features from OMIM:

164200

Human phenotypes related to Oculodentodigital Dysplasia:

56 32 (show top 50) (show all 110)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 56 32 Frequent (79-30%) HP:0001251
2 seizures 56 32 Frequent (79-30%) HP:0001250
3 muscle weakness 56 32 Frequent (79-30%) HP:0001324
4 hypertelorism 56 32 Frequent (79-30%) HP:0000316
5 finger syndactyly 56 32 Very frequent (99-80%) HP:0006101
6 clinodactyly 56 32 Frequent (79-30%) HP:0030084
7 nystagmus 56 32 Occasional (29-5%) HP:0000639
8 intellectual disability 56 32 Occasional (29-5%) HP:0001249
9 spasticity 56 32 Frequent (79-30%) HP:0001257
10 dysarthria 56 32 Frequent (79-30%) HP:0001260
11 gait disturbance 56 32 Frequent (79-30%) HP:0001288
12 hyperreflexia 56 32 Frequent (79-30%) HP:0001347
13 cerebral calcification 56 32 Frequent (79-30%) HP:0002514
14 mandibular prognathia 56 32 Frequent (79-30%) HP:0000303
15 cataract 56 32 Frequent (79-30%) HP:0000518
16 carious teeth 56 32 Very frequent (99-80%) HP:0000670
17 umbilical hernia 56 32 Occasional (29-5%) HP:0001537
18 abnormal cortical bone morphology 56 32 Frequent (79-30%) HP:0003103
19 short nose 56 32 Frequent (79-30%) HP:0003196
20 visual impairment 56 32 Frequent (79-30%) HP:0000505
21 optic atrophy 56 32 Frequent (79-30%) HP:0000648
22 arrhythmia 56 32 Occasional (29-5%) HP:0011675
23 hypoglycemia 56 32 Occasional (29-5%) HP:0001943
24 cleft palate 56 32 Very frequent (99-80%) HP:0000175
25 micrognathia 56 32 Occasional (29-5%) HP:0000347
26 palmoplantar keratoderma 56 32 Occasional (29-5%) HP:0000982
27 abnormality of the metaphyses 56 32 Frequent (79-30%) HP:0000944
28 strabismus 56 32 Occasional (29-5%) HP:0000486
29 broad alveolar ridges 56 32 Frequent (79-30%) HP:0000187
30 epicanthus 56 32 Occasional (29-5%) HP:0000286
31 abnormal form of the vertebral bodies 56 32 Occasional (29-5%) HP:0003312
32 abnormality of the fingernails 56 32 Frequent (79-30%) HP:0001231
33 aplasia/hypoplasia of the cerebellum 56 32 Frequent (79-30%) HP:0007360
34 underdeveloped nasal alae 56 32 Very frequent (99-80%) HP:0000430
35 non-midline cleft lip 56 32 Occasional (29-5%) HP:0100335
36 myopia 56 32 Frequent (79-30%) HP:0000545
37 deeply set eye 56 32 Occasional (29-5%) HP:0000490
38 clinodactyly of the 5th finger 56 32 Very frequent (99-80%) HP:0004209
39 glaucoma 56 32 Frequent (79-30%) HP:0000501
40 conductive hearing impairment 56 32 Frequent (79-30%) HP:0000405
41 upslanted palpebral fissure 56 32 Occasional (29-5%) HP:0000582
42 hypotrichosis 56 32 Frequent (79-30%) HP:0001006
43 brachydactyly syndrome 56 32 Occasional (29-5%) HP:0001156
44 abnormality of dental enamel 56 32 Very frequent (99-80%) HP:0000682
45 ventricular septal defect 56 32 Occasional (29-5%) HP:0001629
46 taurodontia 56 32 Occasional (29-5%) HP:0000679
47 fine hair 56 32 Occasional (29-5%) HP:0002213
48 reduced number of teeth 56 32 Very frequent (99-80%) HP:0009804
49 high forehead 56 32 Frequent (79-30%) HP:0000348
50 high-grade hypermetropia 56 32 Frequent (79-30%) HP:0008499

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.23 GJA5
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 9.23 GJA4
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-200 9.23 GJA5
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-211 9.23 GJA5
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-61 9.23 GJA5
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-62 9.23 GJA4 GJA5
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-89 9.23 GJA4
8 Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance GR00210-A 9.13 GJA1 GJA5 GJB2

MGI Mouse Phenotypes related to Oculodentodigital Dysplasia:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 reproductive system MP:0005389 9.02 GJA1 GJA4 GJA5 GJB2 GJB4

Drugs & Therapeutics for Oculodentodigital Dysplasia

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

(show all 6)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Verteporfin Approved, Investigational Phase 3 129497-78-5
2 Dermatologic Agents Phase 3,Phase 2
3 Photosensitizing Agents Phase 3,Phase 2
4
Aminolevulinic acid Approved Phase 2 106-60-5 137
5 Pharmaceutical Solutions Phase 2
6 carnitine Nutraceutical

Interventional clinical trials:

(show all 12)
id Name Status NCT ID Phase
1 Two Studies to Determine if Verteporfin PDT is Effective & Safe in Treating Multiple Basal Cell Carcinoma of the Skin. Terminated NCT00049959 Phase 3
2 Efficacy, Safety and Tolerability of Topically Applied LDE225 Cream (Hedgehog Pathway Inhibitor) in Adult Patients With Nevoid Basal Cell Carcinoma Syndrome (NBCCS) Withdrawn NCT03070691 Phase 2, Phase 3
3 A Trial to Evaluate the Safety, Local Tolerability, Pharmacokinetics and Pharmacodynamics of LDE225 on Skin Basal Cell Carcinomas in Gorlin Syndrome Patients Completed NCT00961896 Phase 2
4 Trial of Patidegib Gel 2%, 4%, and Vehicle to Decrease the Number of Surgically Eligible Basal Cell Carcinomas (BCC) in Gorlin Syndrome Patients Completed NCT02762084 Phase 2
5 To Determine The Efficacy and Safety of GDC-0449 in Patients With Basal Cell Nevus Syndrome (BCNS) Completed NCT00957229 Phase 2
6 Trial Comparing the Effects of Intermittent Vismodegib vs. PDT in Patients With Multiple Basal Cell Carcinomas Completed NCT01556009 Phase 2
7 Efficacy, Safety and Pharmacokinetics of Oral LDE225 in Treatment of Patients With Nevoid Basal Cell Carcinoma Syndrome (NBCCS) Completed NCT01350115 Phase 2
8 Clinical Trial of Patidegib Gel 2%, 4%, and Vehicle Applied Once or Twice Daily to Decrease the Size of Sporadic Nodular Basal Cell Carcinomas Recruiting NCT02828111 Phase 2
9 Blue vs Red Light During Levulan Based Photodynamic Therapy in Patients With Basal Cell Nevus Syndrome Completed NCT02157623
10 Levocarnitine in Treating Patients With Vismodegib-Associated Muscle Spasms Completed NCT01893892
11 A Clinical Trial of Dermacorder for Detecting Malignant Skin Lesions Completed NCT01014819
12 An Observational Study of the Effectiveness and Safety of Erivedge® in Patients With Advanced Basal Cell Carcinoma Recruiting NCT02371967

Search NIH Clinical Center for Oculodentodigital Dysplasia

Cochrane evidence based reviews: oculodentodigital dysplasia

Genetic Tests for Oculodentodigital Dysplasia

Genetic tests related to Oculodentodigital Dysplasia:

id Genetic test Affiliating Genes
1 Oculodentodigital Dysplasia 29 24 GJA1

Anatomical Context for Oculodentodigital Dysplasia

MalaCards organs/tissues related to Oculodentodigital Dysplasia:

39
Eye, Skin, Testes, Bone, Heart, Cerebellum, Brain

Publications for Oculodentodigital Dysplasia

Articles related to Oculodentodigital Dysplasia:

(show top 50) (show all 91)
id Title Authors Year
1
A novel GJA1 mutation in oculodentodigital dysplasia with extensive loss of enamel. ( 28258662 )
2017
2
A novel GJA1 mutation causing familial oculodentodigital dysplasia with dilated cardiomyopathy and arrhythmia. ( 28491627 )
2016
3
Case report: imaging and treatment of ophthalmic manifestations in oculodentodigital dysplasia. ( 26743931 )
2016
4
Specific functional pathologies of Cx43 mutations associated with oculodentodigital dysplasia. ( 27226478 )
2016
5
Oculodentodigital dysplasia. ( 27146935 )
2016
6
Missense and deletion mutations in GJA1 causing oculodentodigital dysplasia in two Indian families. ( 26087145 )
2015
7
Manipulating Cx43 expression triggers gene reprogramming events in dermal fibroblasts from oculodentodigital dysplasia patients. ( 26349540 )
2015
8
Oculodentodigital Dysplasia with Massive Brain Calcification and a New Mutation of GJA1 Gene. ( 26444782 )
2015
9
Dominant De Novo Mutations in GJA1 Cause Erythrokeratodermia Variabilis Et Progressiva, without Features of Oculodentodigital Dysplasia. ( 25398053 )
2014
10
Myogenic bladder defects in mouse models of human oculodentodigital dysplasia. ( 24228978 )
2014
11
Palmoplantar keratosis in oculodentodigital dysplasia with a GJA1 point mutation out of the C-terminal region of connexin 43. ( 25388818 )
2014
12
Clinical manifestations of oculodentodigital dysplasia. ( 25231047 )
2014
13
Japanese case of oculodentodigital dysplasia caused by a mutation in the GJA1 gene. ( 25327171 )
2014
14
Maxillo-facial radiology case 118. Oculodentodigital dysplasia. ( 24974522 )
2014
15
Cerebral ischemic injury is enhanced in a model of oculodentodigital dysplasia. ( 23727526 )
2013
16
Autosomal recessive GJA1 (Cx43) gene mutations cause oculodentodigital dysplasia by distinct mechanisms. ( 23606748 )
2013
17
Congenital heart defects in oculodentodigital dysplasia: Report of two cases. ( 24115525 )
2013
18
Neurological manifestations of oculodentodigital dysplasia: a Cx43 channelopathy of the central nervous system? ( 24133447 )
2013
19
Structure and functional studies of N-terminal Cx43 mutants linked to oculodentodigital dysplasia. ( 22809623 )
2012
20
A novel GJA1 mutation in oculodentodigital dysplasia with progressive spastic paraplegia and sensory deficits. ( 22214631 )
2012
21
Digital and dental malformation and short stature in a patient with neurological problems: a variant of the oculodentodigital dysplasia syndrome or a new syndrome? ( 24665281 )
2012
22
Cleft lip in oculodentodigital dysplasia suggests novel roles for connexin43. ( 22699666 )
2012
23
Teaching neuroimages: oculodentodigital dysplasia: hypomyelination and syndactyly. ( 23071171 )
2012
24
Characterization of gap junction proteins in the bladder of Cx43 mutant mouse models of oculodentodigital dysplasia. ( 22752022 )
2012
25
Male reproductive system defects and subfertility in a mutant mouse model of oculodentodigital dysplasia. ( 22004529 )
2011
26
Oculodentodigital dysplasia: ulnar-sided syndactyly and its associated disorders. ( 22036282 )
2011
27
The G60S connexin43 mutant regulates hair growth and hair fiber morphology in a mouse model of human oculodentodigital dysplasia. ( 21716323 )
2011
28
Oculodentodigital dysplasia: new ocular findings and a novel connexin 43 mutation. ( 21670345 )
2011
29
Atrial tachycardia/fibrillation in the connexin 43 G60S mutant (Oculodentodigital dysplasia) mouse. ( 21239638 )
2011
30
Ocular pathology relevant to glaucoma in a Gja1(Jrt/+) mouse model of human oculodentodigital dysplasia. ( 21273537 )
2011
31
Human dermal fibroblasts derived from oculodentodigital dysplasia patients suggest that patients may have wound-healing defects. ( 21305658 )
2011
32
Dental management of oculodentodigital dysplasia: a case report. ( 20587963 )
2010
33
A severe progressive oculodentodigital dysplasia due to compound heterozygous GJA1 mutation. ( 20597923 )
2010
34
Oogenesis defects in a mutant mouse model of oculodentodigital dysplasia. ( 19259389 )
2009
35
Tyrosine-dependent basolateral targeting of human connexin43-eYFP in Madin-Darby canine kidney cells can be disrupted by the oculodentodigital dysplasia mutation L90V. ( 19860828 )
2009
36
A novel GJA1 missense mutation in a Polish child with oculodentodigital dysplasia. ( 19638688 )
2009
37
A case of oculodentodigital dysplasia syndrome with novel GJA1 gene mutation. ( 19847613 )
2009
38
Oculodentodigital dysplasia: disease spectrum in an eight-year-old boy, his parents and a sibling. ( 19725242 )
2009
39
Ocular manifestations in oculodentodigital dysplasia resulting from a heterozygous missense mutation (L113P) in GJA1 (connexin 43). ( 18425059 )
2009
40
GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype. ( 19338053 )
2009
41
Report of a black South African child with oculodentodigital dysplasia and a novel GJA1 gene mutation. ( 18412120 )
2008
42
The conditional connexin43G138R mouse mutant represents a new model of hereditary oculodentodigital dysplasia in humans. ( 18003637 )
2008
43
Expanding the neurologic phenotype of oculodentodigital dysplasia in a 4-generation Hispanic family. ( 18660473 )
2008
44
Variable expression of neurological phenotype in autosomal recessive oculodentodigital dysplasia of two sibs and review of the literature. ( 17476528 )
2008
45
Decreased levels of connexin43 result in impaired development of the mammary gland in a mouse model of oculodentodigital dysplasia. ( 18455714 )
2008
46
Some oculodentodigital dysplasia-associated Cx43 mutations cause increased hemichannel activity in addition to deficient gap junction channels. ( 17687502 )
2007
47
Differential potency of dominant negative connexin43 mutants in oculodentodigital dysplasia. ( 17420259 )
2007
48
Gap junction remodeling and cardiac arrhythmogenesis in a murine model of oculodentodigital dysplasia. ( 18077386 )
2007
49
A new GJA1 (connexin 43) mutation causing oculodentodigital dysplasia associated to uncommon features. ( 18161618 )
2007
50
Oculodentodigital dysplasia with mandibular retrognathism and absence of syndactyly: a case report with a novel mutation in the connexin 43 gene. ( 17509830 )
2007

Variations for Oculodentodigital Dysplasia

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

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

ClinVar genetic disease variations for Oculodentodigital Dysplasia:

6 (show all 14)
id Gene Variation Type Significance SNP ID Assembly Location
1 GJA1 NM_000165.4(GJA1): c.50A> C (p.Tyr17Ser) single nucleotide variant Pathogenic rs104893961 GRCh37 Chromosome 6, 121768043: 121768043
2 GJA1 NM_000165.4(GJA1): c.52T> C (p.Ser18Pro) single nucleotide variant Pathogenic rs104893962 GRCh37 Chromosome 6, 121768045: 121768045
3 GJA1 NM_000165.4(GJA1): c.61G> A (p.Gly21Arg) single nucleotide variant Pathogenic rs104893963 GRCh37 Chromosome 6, 121768054: 121768054
4 GJA1 NM_000165.4(GJA1): c.65G> A (p.Gly22Glu) single nucleotide variant Pathogenic rs104893964 GRCh37 Chromosome 6, 121768058: 121768058
5 GJA1 GJA1, 3-BP DUP, 154TTT duplication Pathogenic
6 GJA1 NM_000165.4(GJA1): c.286G> A (p.Val96Met) single nucleotide variant Pathogenic rs28931601 GRCh37 Chromosome 6, 121768279: 121768279
7 GJA1 GJA1, 2-BP DEL, 780T-G deletion Pathogenic
8 GJA1 NM_000165.4(GJA1): c.581A> C (p.His194Pro) single nucleotide variant Pathogenic rs104893966 GRCh37 Chromosome 6, 121768574: 121768574
9 GJA1 NM_000165.4(GJA1): c.32T> C (p.Leu11Pro) single nucleotide variant Pathogenic rs121912969 GRCh37 Chromosome 6, 121768025: 121768025
10 GJA1 GJA1, 2-BP DEL, 679AT deletion Pathogenic
11 GJA1 NM_000165.4(GJA1): c.226C> A (p.Arg76Ser) single nucleotide variant Pathogenic/Likely pathogenic rs267606845 GRCh37 Chromosome 6, 121768219: 121768219
12 GJA1 GJA1, 12-BP DEL, NT120 deletion Pathogenic
13 GJA1 NM_000165.4(GJA1): c.31C> T (p.Leu11Phe) single nucleotide variant Pathogenic rs387906616 GRCh37 Chromosome 6, 121768024: 121768024
14 GJA1 NM_000165.4(GJA1): c.617A> G (p.Lys206Arg) single nucleotide variant Pathogenic rs397518464 GRCh37 Chromosome 6, 121768610: 121768610

Expression for Oculodentodigital Dysplasia

Search GEO for disease gene expression data for Oculodentodigital Dysplasia.

Pathways for Oculodentodigital Dysplasia

GO Terms for Oculodentodigital Dysplasia

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

id Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.8 GJA1 GJA4 GJA5 GJB2 GJB4 GJC2
2 cell junction GO:0030054 9.63 GJA1 GJA4 GJA5 GJB2 GJB4 GJC2
3 gap junction GO:0005921 9.43 GJA1 GJA4 GJA5 GJB2 GJB4 GJC2
4 intercalated disc GO:0014704 9.26 GJA1 GJA5
5 connexin complex GO:0005922 9.1 GJA1 GJA4 GJA5 GJB2 GJB4 GJC2

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

(show all 15)
id Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.73 GJA1 GJA5 GJB2 GJC2
2 cell-cell signaling GO:0007267 9.67 GJA1 GJA4 GJB2 GJC2
3 protein oligomerization GO:0051259 9.55 GJA1 GJA5
4 blood vessel development GO:0001568 9.54 GJA4 GJA5
5 response to retinoic acid GO:0032526 9.52 GJA1 GJB2
6 response to ischemia GO:0002931 9.51 GJA1 GJB2
7 positive regulation of vasoconstriction GO:0045907 9.49 GJA1 GJA5
8 positive regulation of vasodilation GO:0045909 9.48 GJA1 GJA5
9 decidualization GO:0046697 9.46 GJA1 GJB2
10 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.4 GJA1 GJA5
11 gap junction assembly GO:0016264 9.33 GJA1 GJA5 GJB2
12 cell communication by electrical coupling GO:0010644 9.32 GJA1 GJA5
13 positive regulation of cell communication by chemical coupling GO:0010652 9.26 GJA1 GJA5
14 endothelium development GO:0003158 9.13 GJA1 GJA4 GJA5
15 cell communication GO:0007154 9.1 GJA1 GJA4 GJA5 GJB2 GJB4 GJC2

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

id Name GO ID Score Top Affiliating Genes
1 disordered domain specific binding GO:0097718 9.26 GJA1 GJA5
2 connexin binding GO:0071253 9.16 GJA1 GJA5
3 gap junction channel activity involved in cardiac conduction electrical coupling GO:0086075 8.96 GJA1 GJA5
4 gap junction channel activity GO:0005243 8.92 GJA1 GJA5 GJB2 GJC2

Sources for Oculodentodigital Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....