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

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Aliases & Descriptions for Oculodentodigital Dysplasia:

Name: Oculodentodigital Dysplasia 52 11 48 24 25 54 70 27 12 50 39 13
Odd Syndrome 11 48 24 25 70
Oculodentoosseous Dysplasia 24 25 54 70
Oculo-Dento-Digital Dysplasia 48 25 70
Oculodentodigital Syndrome 48 25 70
Oddd 48 25 70
Oculo-Dento-Digital Syndrome 48 70
 
Odod 25 70
Oculodentodigital Dysplasia Syndrome 50
Osseous-Oculo-Dental Dysplasia 25
Oculo-Dento-Osseous Dysplasia 25
Meyer-Schwickerath Syndrome 54
Oddd Syndrome 54
Odds 70

Characteristics:

Orphanet epidemiological data:

54
oculodentodigital dysplasia:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal

HPO:

64
oculodentodigital dysplasia:
Inheritance: autosomal dominant inheritance
Onset and clinical course: phenotypic variability

Classifications:



External Ids:

OMIM52 164200
Disease Ontology11 DOID:0060291
Orphanet54 ORPHA2710
SNOMED-CT62 31291009, 38215007
UMLS via Orphanet69 C0812437
ICD10 via Orphanet31 Q87.8
MedGen37 C0812437

Summaries for Oculodentodigital Dysplasia

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OMIM:52 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 Array, Array and Array. An important gene associated with Oculodentodigital Dysplasia is GJA1 (Gap Junction Protein Alpha 1), and among its related pathways are Antiarrhythmic Pathway, Pharmacodynamics and Transport of connexins along the secretory pathway. Affiliated tissues include eye, skin and testes, and related mouse phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance.

Disease Ontology:11 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:48 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:70 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

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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)
idRelated DiseaseScoreTop Affiliating Genes
1erythrokeratodermia variabilis et progressiva29.0GJA1, GJA4, GJB2, GJB4, LOR
2oculodentodigital dysplasia, autosomal recessive12.3
3oculodentoosseous dysplasia recessive11.9
4oculodentodigital dysplasia dominant11.9
5oppositional defiant disorder11.2
6fraser syndrome11.2
7scalp-ear-nipple syndrome11.0
8syndactyly, type iii10.9
9schizotypal personality disorder10.9
10ego-dystonic sexual orientation10.9
11optic disk drusen10.9
12pseudopapilledema10.9
13syndactyly10.2
14persistent hyperplastic primary vitreous10.1
15cerebellar ataxia, mental retardation, and dysequilibrium syndrome 410.1GJA1, GJB2
16hereditary thrombocytosis with transverse limb defect10.1GJB2, GJB4
17klumpke paralysis10.1GJB2, GJB4
18rheumatic heart disease10.1GJA1, GJA5
19sinoatrial node disease10.1GJA4, GJA5
20ehlers-danlos syndrome, type viib10.1GJB2, GJB4
21familial periodic paralysis10.0GJA1, GJA5
22cerebritis10.0
23mesenchymal chondrosarcoma10.0GJA1, GJB2
24ectodermal dysplasia 2, clouston type10.0GJB2, LOR
25penttinen-aula syndrome10.0GJA1, GJC2
26troyer syndrome10.0GJA1, GJB2, GJB4
27nonprogressive cerebellar atxia with mental retardation10.0GJA1, GJC2
28breast leiomyoma10.0GJA1, GJB2
29dementia, familial british10.0GJA1, GJB2, GJB4
30carotid artery thrombosis10.0GJB2, LOR
31harrod syndrome9.9GJA1, GJC2
32lemierre's syndrome9.9GJA1, GJB2, LOR
33richter's syndrome9.8GJB4, LOR
34hallermann-streiff syndrome9.8
35dilated cardiomyopathy9.8
36heart disease9.8
37diarrhea9.8
38keratosis9.8
39dysostosis9.8
40palmoplantar keratosis9.8
41paraplegia9.8
42cleft lip9.8
43glioma9.8
44cardiomyopathy9.8
45spasticity9.8
46pseudomyotonia9.7GJA1, GJB2, GJB4, LOR
47solitary bone cyst9.7GJA1, GJB2, GJB4, LOR
48hypoplastic left heart syndrome 19.0GJA1, 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

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Symptoms by clinical synopsis from OMIM:

164200

Clinical features from OMIM:

164200

Human phenotypes related to Oculodentodigital Dysplasia:

 54 64 (show all 110)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 neurogenic bladder64 54 Frequent (79-30%) HP:0000011
2 median cleft lip64 54 Frequent (79-30%) HP:0000161
3 cleft palate64 54 Very frequent (99-80%) HP:0000175
4 broad alveolar ridges64 54 Frequent (79-30%) HP:0000187
5 epicanthus64 54 Occasional (29-5%) HP:0000286
6 mandibular prognathia64 54 Frequent (79-30%) HP:0000303
7 hypertelorism64 54 Frequent (79-30%) HP:0000316
8 micrognathia64 54 Occasional (29-5%) HP:0000347
9 high forehead64 54 Frequent (79-30%) HP:0000348
10 hearing impairment54 Occasional (29-5%)
11 abnormality of the nose54 Very frequent (99-80%)
12 conductive hearing impairment64 54 Frequent (79-30%) HP:0000405
13 underdeveloped nasal alae64 54 Very frequent (99-80%) HP:0000430
14 narrow nasal bridge64 54 Very frequent (99-80%) HP:0000446
15 anteverted nares54 Very frequent (99-80%)
16 abnormality of the eye54 Frequent (79-30%)
17 microcornea64 54 Very frequent (99-80%) HP:0000482
18 strabismus64 54 Occasional (29-5%) HP:0000486
19 deeply set eye64 54 Occasional (29-5%) HP:0000490
20 glaucoma64 54 Frequent (79-30%) HP:0000501
21 abnormality of vision54 Frequent (79-30%)
22 visual impairment64 54 Frequent (79-30%) HP:0000505
23 cataract64 54 Frequent (79-30%) HP:0000518
24 abnormality of the iris64 54 Occasional (29-5%) HP:0000525
25 myopia64 54 Frequent (79-30%) HP:0000545
26 upslanted palpebral fissure64 54 Occasional (29-5%) HP:0000582
27 abnormality of the ear54 Very frequent (99-80%)
28 hypotelorism64 54 Frequent (79-30%) HP:0000601
29 nystagmus64 54 Occasional (29-5%) HP:0000639
30 optic atrophy64 54 Frequent (79-30%) HP:0000648
31 carious teeth64 54 Very frequent (99-80%) HP:0000670
32 taurodontia64 54 Occasional (29-5%) HP:0000679
33 abnormality of dental enamel64 54 Very frequent (99-80%) HP:0000682
34 abnormality of the clavicle64 54 Occasional (29-5%) HP:0000889
35 abnormal diaphysis morphology64 54 Occasional (29-5%) HP:0000940
36 abnormality of the metaphyses64 54 Frequent (79-30%) HP:0000944
37 palmoplantar keratoderma64 54 Occasional (29-5%) HP:0000982
38 hypotrichosis64 54 Frequent (79-30%) HP:0001006
39 brachydactyly syndrome64 54 Occasional (29-5%) HP:0001156
40 hand polydactyly54 Occasional (29-5%)
41 preaxial hand polydactyly64 54 Occasional (29-5%) HP:0001177
42 abnormality of the fingernails64 54 Frequent (79-30%) HP:0001231
43 intellectual disability64 54 Occasional (29-5%) HP:0001249
44 seizures64 54 Frequent (79-30%) HP:0001250
45 ataxia64 54 Frequent (79-30%) HP:0001251
46 spasticity64 54 Frequent (79-30%) HP:0001257
47 dysarthria64 54 Frequent (79-30%) HP:0001260
48 gait disturbance64 54 Frequent (79-30%) HP:0001288
49 muscle weakness64 54 Frequent (79-30%) HP:0001324
50 hyperreflexia64 54 Frequent (79-30%) HP:0001347
51 umbilical hernia64 54 Occasional (29-5%) HP:0001537
52 abnormality of the nail54 Frequent (79-30%)
53 ventricular septal defect64 54 Occasional (29-5%) HP:0001629
54 toe syndactyly64 54 Very frequent (99-80%) HP:0001770
55 hypoglycemia64 54 Occasional (29-5%) HP:0001943
56 curly hair64 54 Frequent (79-30%) HP:0002212
57 fine hair64 54 Occasional (29-5%) HP:0002213
58 slow-growing hair64 54 Frequent (79-30%) HP:0002217
59 brittle hair64 54 Occasional (29-5%) HP:0002299
60 spastic paraparesis64 54 Frequent (79-30%) HP:0002313
61 cerebral calcification64 54 Frequent (79-30%) HP:0002514
62 malformation of the heart and great vessels54 Occasional (29-5%)
63 madelung deformity64 54 Occasional (29-5%) HP:0003067
64 abnormal cortical bone morphology64 54 Frequent (79-30%) HP:0003103
65 short nose64 54 Frequent (79-30%) HP:0003196
66 abnormal form of the vertebral bodies64 54 Occasional (29-5%) HP:0003312
67 clinodactyly of the 5th finger64 54 Very frequent (99-80%) HP:0004209
68 cranial hyperostosis64 54 Frequent (79-30%) HP:0004437
69 thin anteverted nares64 54 Frequent (79-30%) HP:0004495
70 finger syndactyly64 54 Very frequent (99-80%) HP:0006101
71 premature loss of primary teeth64 54 Very frequent (99-80%) HP:0006323
72 aplasia/hypoplasia of the cerebellum64 54 Frequent (79-30%) HP:0007360
73 high-grade hypermetropia64 54 Frequent (79-30%) HP:0008499
74 external ear malformation64 54 Frequent (79-30%) HP:0008572
75 reduced number of teeth64 54 Very frequent (99-80%) HP:0009804
76 aplasia/hypoplasia of the middle phalanges of the hand64 54 Frequent (79-30%) HP:0009843
77 short hallux64 54 Occasional (29-5%) HP:0010109
78 broad columella64 54 Very frequent (99-80%) HP:0010761
79 mild global developmental delay64 54 Frequent (79-30%) HP:0011342
80 arrhythmia64 54 Occasional (29-5%) HP:0011675
81 clinodactyly64 54 Frequent (79-30%) HP:0030084
82 non-midline cleft lip64 54 Occasional (29-5%) HP:0100335
83 camptodactyly of finger64 54 Frequent (79-30%) HP:0100490
84 hyperostosis54 Frequent (79-30%)
85 cleft upper lip64 HP:0000204
86 microcephaly64 HP:0000252
87 abnormality of the pinna64 HP:0000377
88 microphthalmia64 HP:0000568
89 blepharophimosis64 HP:0000581
90 microdontia64 HP:0000691
91 selective tooth agenesis64 HP:0001592
92 atrial septal defect64 HP:0001631
93 fragile nails64 HP:0001808
94 basal ganglia calcification64 HP:0002135
95 tetraparesis64 HP:0002273
96 paraparesis64 HP:0002385
97 abnormality of the cerebral white matter64 HP:0002500
98 hip dislocation64 HP:0002827
99 cubitus valgus64 HP:0002967
100 short middle phalanx of the 5th finger64 HP:0004220
101 hypoplasia of dental enamel64 HP:0006297
102 premature loss of teeth64 HP:0006480
103 hyperactive deep tendon reflexes64 HP:0006801
104 sparse hair64 HP:0008070
105 vertebral hyperostosis64 HP:0008442
106 joint contracture of the 5th finger64 HP:0009183
107 3-4 toe syndactyly64 HP:0009779
108 4-5 finger syndactyly64 HP:0010705
109 dry hair64 HP:0011359
110 short palpebral fissure64 HP:0012745

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00366-A-8410.2GJA4, GJA5
2GR00210-A10.0GJA1, GJA5, GJB2

MGI Mouse Phenotypes related to Oculodentodigital Dysplasia according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053898.2GJA1, GJA4, GJA5, GJB2, GJB4

Drugs & Therapeutics for Oculodentodigital Dysplasia

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

(show all 6)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Verteporfinapproved, investigationalPhase 390129497-78-5
Synonyms:
Verteporfin
 
Verteporfina
Verteporfinum
Vertéporfine
2Dermatologic AgentsPhase 3, Phase 25806
3Photosensitizing AgentsPhase 3, Phase 2492
4
Aminolevulinic acidapprovedPhase 2165106-60-5137
Synonyms:
106-60-5
35BEC718-C970-426A-9859-BF58284C60B4
5-ALA
5-Amino-4-oxo-Pentanoate
5-Amino-4-oxo-Pentanoic acid
5-Amino-4-oxopentanoate
5-Amino-4-oxopentanoic acid
5-Amino-4-oxovalerate
5-Amino-4-oxovaleric acid
5-Amino-Levulinate
5-Amino-Levulinic acid
5-Aminolaevulinate
5-Aminolaevulinic acid
5-Aminolevulinate
5-Aminolevulinic acid
5-amino-levulinate
5451-09-2
AC-054
AC1L18K9
AKOS003587520
ALA
ALA-PDT
Aladerm
Amino-levulinic acid
Aminolevulinate
Aminolevulinic
Aminolevulinic acid
BIDD:GT0260
BSPBio_003407
C00430
CCRIS 8958
CHEBI:17549
CHEMBL601
CID137
CPD000857229
 
D07567
DALA
DB00855
DivK1c_006954
EINECS 203-414-1
I14-10101
KBio1_001898
KBio2_002062
KBio2_004630
KBio2_007198
KBio3_002627
KBioGR_001176
KBioSS_002062
Kerastick
LMFA01100055
LS-101793
Levulinic acid, 5-amino- (8CI)
MLS001333097
MLS001333098
MolPort-001-788-423
NCGC00178086-01
Pentanoic acid, 5-amino-4-oxo- (9CI)
SAM002589919
SMR000857229
SPBio_001843
ST50819610
SpecPlus_000858
Spectrum2_001662
Spectrum3_001654
Spectrum4_000618
Spectrum5_001505
Spectrum_001582
UNII-88755TAZ87
delta-ALA
delta-Aminolevulinate
delta-Aminolevulinic acid
delta-aminolevulinic acid
5Pharmaceutical SolutionsPhase 28192
6carnitineNutraceutical162

Interventional clinical trials:

(show all 12)
idNameStatusNCT IDPhase
1Two Studies to Determine if Verteporfin PDT is Effective & Safe in Treating Multiple Basal Cell Carcinoma of the Skin.TerminatedNCT00049959Phase 3
2Efficacy, Safety and Tolerability of Topically Applied LDE225 Cream (Hedgehog Pathway Inhibitor) in Adult Patients With Nevoid Basal Cell Carcinoma Syndrome (NBCCS)WithdrawnNCT03070691Phase 2, Phase 3
3A Trial to Evaluate the Safety, Local Tolerability, Pharmacokinetics and Pharmacodynamics of LDE225 on Skin Basal Cell Carcinomas in Gorlin Syndrome PatientsCompletedNCT00961896Phase 2
4Trial of Patidegib Gel 2%, 4%, and Vehicle to Decrease the Number of Surgically Eligible Basal Cell Carcinomas (BCC) in Gorlin Syndrome PatientsCompletedNCT02762084Phase 2
5To Determine The Efficacy and Safety of GDC-0449 in Patients With Basal Cell Nevus Syndrome (BCNS)CompletedNCT00957229Phase 2
6Trial Comparing the Effects of Intermittent Vismodegib vs. PDT in Patients With Multiple Basal Cell CarcinomasCompletedNCT01556009Phase 2
7Efficacy, Safety and Pharmacokinetics of Oral LDE225 in Treatment of Patients With Nevoid Basal Cell Carcinoma Syndrome (NBCCS)CompletedNCT01350115Phase 2
8Clinical Trial of Patidegib Gel 2%, 4%, and Vehicle Applied Once or Twice Daily to Decrease the Size of Sporadic Nodular Basal Cell CarcinomasRecruitingNCT02828111Phase 2
9Blue vs Red Light During Levulan Based Photodynamic Therapy in Patients With Basal Cell Nevus SyndromeCompletedNCT02157623
10Levocarnitine in Treating Patients With Vismodegib-Associated Muscle SpasmsCompletedNCT01893892
11A Clinical Trial of Dermacorder for Detecting Malignant Skin LesionsCompletedNCT01014819
12An Observational Study of the Effectiveness and Safety of Erivedge® in Patients With Advanced Basal Cell CarcinomaRecruitingNCT02371967

Search NIH Clinical Center for Oculodentodigital Dysplasia


Cochrane evidence based reviews: oculodentodigital dysplasia

Genetic Tests for Oculodentodigital Dysplasia

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Genetic tests related to Oculodentodigital Dysplasia:

id Genetic test Affiliating Genes
1 Oculodentodigital Dysplasia27 24 GJA1

Anatomical Context for Oculodentodigital Dysplasia

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MalaCards organs/tissues related to Oculodentodigital Dysplasia:

36
Eye, Skin, Testes, Bone, Heart, Cerebellum, Brain

Publications for Oculodentodigital Dysplasia

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Articles related to Oculodentodigital Dysplasia:

(show top 50)    (show all 91)
idTitleAuthorsYear
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

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

70 (show all 43)
id Symbol AA change Variation ID SNP ID
1GJA1p.Tyr17SerVAR_015747rs104893961
2GJA1p.Ser18ProVAR_015748rs104893962
3GJA1p.Gly21ArgVAR_015749rs104893963
4GJA1p.Gly22GluVAR_015750rs104893964
5GJA1p.Lys23ThrVAR_015751
6GJA1p.Ala40ValVAR_015752
7GJA1p.Gln49LysVAR_015753
8GJA1p.Arg76SerVAR_015755rs267606845
9GJA1p.Leu90ValVAR_015756
10GJA1p.Tyr98CysVAR_015757
11GJA1p.Lys102AsnVAR_015758
12GJA1p.Ile130ThrVAR_015759
13GJA1p.Lys134GluVAR_015760
14GJA1p.Gly138ArgVAR_015761
15GJA1p.Arg202HisVAR_015762rs750294638
16GJA1p.Val216LeuVAR_015763
17GJA1p.Ser27ProVAR_038356
18GJA1p.Ile31MetVAR_038357
19GJA1p.Ser69TyrVAR_038358
20GJA1p.Leu113ProVAR_038359
21GJA1p.Lys134AsnVAR_038360
22GJA1p.Gly2ValVAR_058990
23GJA1p.Leu7ValVAR_058991
24GJA1p.Leu11ProVAR_058992rs121912969
25GJA1p.Gln49ProVAR_058994
26GJA1p.Pro59HisVAR_058996
27GJA1p.His95ArgVAR_058998
28GJA1p.Val96AlaVAR_058999
29GJA1p.Val96GluVAR_059000
30GJA1p.Val96MetVAR_059001rs28931601
31GJA1p.Leu106ProVAR_059002
32GJA1p.Glu110AspVAR_059003
33GJA1p.Met147ThrVAR_059004
34GJA1p.Thr154AlaVAR_059005
35GJA1p.Thr154AsnVAR_059006
36GJA1p.His194ProVAR_059008rs104893966
37GJA1p.Ser201PheVAR_059009
38GJA1p.Ser220TyrVAR_059010
39GJA1p.Lys206ArgVAR_070440rs397518464
40GJA1p.Asp47HisVAR_071009
41GJA1p.Ser86TyrVAR_071010
42GJA1p.Leu106ArgVAR_071011
43GJA1p.Leu11IleVAR_078238

Clinvar genetic disease variations for Oculodentodigital Dysplasia:

5 (show all 14)
id Gene Variation Type Significance SNP ID Assembly Location
1GJA1NM_ 000165.4(GJA1): c.50A> C (p.Tyr17Ser)SNVPathogenicrs104893961GRCh37Chr 6, 121768043: 121768043
2GJA1NM_ 000165.4(GJA1): c.52T> C (p.Ser18Pro)SNVPathogenicrs104893962GRCh37Chr 6, 121768045: 121768045
3GJA1NM_ 000165.4(GJA1): c.61G> A (p.Gly21Arg)SNVPathogenicrs104893963GRCh37Chr 6, 121768054: 121768054
4GJA1NM_ 000165.4(GJA1): c.65G> A (p.Gly22Glu)SNVPathogenicrs104893964GRCh37Chr 6, 121768058: 121768058
5GJA1GJA1, 3-BP DUP, 154TTTduplicationPathogenic
6GJA1NM_ 000165.4(GJA1): c.286G> A (p.Val96Met)SNVPathogenicrs28931601GRCh37Chr 6, 121768279: 121768279
7GJA1GJA1, 2-BP DEL, 780T-GdeletionPathogenic
8GJA1NM_ 000165.4(GJA1): c.581A> C (p.His194Pro)SNVPathogenicrs104893966GRCh37Chr 6, 121768574: 121768574
9GJA1NM_ 000165.4(GJA1): c.32T> C (p.Leu11Pro)SNVPathogenicrs121912969GRCh37Chr 6, 121768025: 121768025
10GJA1GJA1, 2-BP DEL, 679ATdeletionPathogenic
11GJA1NM_ 000165.4(GJA1): c.226C> A (p.Arg76Ser)SNVPathogenic/ Likely pathogenicrs267606845GRCh37Chr 6, 121768219: 121768219
12GJA1GJA1, 12-BP DEL, NT120deletionPathogenic
13GJA1NM_ 000165.4(GJA1): c.31C> T (p.Leu11Phe)SNVPathogenicrs387906616GRCh37Chr 6, 121768024: 121768024
14GJA1NM_ 000165.4(GJA1): c.617A> G (p.Lys206Arg)SNVPathogenicrs397518464GRCh37Chr 6, 121768610: 121768610

Expression for genes affiliated with Oculodentodigital Dysplasia

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Search GEO for disease gene expression data for Oculodentodigital Dysplasia.

Pathways for genes affiliated with Oculodentodigital Dysplasia

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GO Terms for genes affiliated with Oculodentodigital Dysplasia

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

idNameGO IDScoreTop Affiliating Genes
1intercalated discGO:001470410.4GJA1, GJA5
2cell junctionGO:00300548.2GJA1, GJA4, GJA5, GJB2, GJB4, GJC2
3connexin complexGO:00059228.2GJA1, GJA4, GJA5, GJB2, GJB4, GJC2
4gap junctionGO:00059218.2GJA1, GJA4, GJA5, GJB2, GJB4, GJC2
5plasma membraneGO:00058867.4GJA1, GJA4, GJA5, GJB2, GJB4, GJC2

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

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1cell communication by electrical couplingGO:001064410.4GJA1, GJA5
2cell communication by electrical coupling involved in cardiac conductionGO:008606410.4GJA1, GJA5
3positive regulation of cell communication by chemical couplingGO:001065210.3GJA1, GJA5
4positive regulation of vasoconstrictionGO:004590710.3GJA1, GJA5
5positive regulation of vasodilationGO:004590910.3GJA1, GJA5
6protein oligomerizationGO:005125910.3GJA1, GJA5
7decidualizationGO:004669710.3GJA1, GJB2
8response to ischemiaGO:000293110.2GJA1, GJB2
9response to retinoic acidGO:003252610.2GJA1, GJB2
10blood vessel developmentGO:000156810.2GJA4, GJA5
11gap junction assemblyGO:00162649.8GJA1, GJA5, GJB2
12endothelium developmentGO:00031589.8GJA1, GJA4, GJA5
13cell-cell signalingGO:00072678.9GJA1, GJA4, GJB2, GJC2
14transmembrane transportGO:00550858.3GJA1, GJA5, GJB2, GJC2
15cell communicationGO:00071548.1GJA1, GJA4, GJA5, GJB2, GJB4, GJC2

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

idNameGO IDScoreTop Affiliating Genes
1connexin bindingGO:007125310.1GJA1, GJA5
2disordered domain specific bindingGO:00977189.9GJA1, GJA5
3gap junction channel activity involved in cardiac conduction electrical couplingGO:00860759.6GJA1, GJA5
4gap junction channel activityGO:00052438.3GJA1, GJA5, GJB2, GJC2

Sources for Oculodentodigital Dysplasia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet