MCID: OCL013
MIFTS: 59

Oculodentodigital Dysplasia 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

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
UMLS68 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 syndactyly, type iii and erythrokeratodermia variabilis et progressiva, and has symptoms including cleft palate, underdeveloped nasal alae and narrow nasal bridge. An important gene associated with Oculodentodigital Dysplasia is GJA1 (Gap Junction Protein Alpha 1), and among its related pathways are Antiarrhythmic Pathway, Pharmacodynamics and Cell adhesion_Endothelial cell contacts by junctional mechanisms. Affiliated tissues include eye, skin and bone, and related mouse phenotypes are Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance and Decreased shRNA abundance (Z-score < -2).

Disease Ontology:11 A syndrome characterized by craniofacial, neurologic, limb and ocular abnormalities.

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.

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, particularly the eyes (oculo-), teeth (dento-), and fingers (digital). The condition is caused by mutations in the GJA1 gene. Most cases are inherited in an autosomal dominant pattern. Some cases are caused by a new mutation in the gene. A small number of cases follow an autosomal recessive pattern of inheritance. Management is multidisciplinary and based on specific symptoms. Early diagnosis is critical for prevention and treatment. Last updated: 1/26/2011

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 43)
idRelated DiseaseScoreTop Affiliating Genes
1syndactyly, type iii28.1GJA1, GJA4, GJA5, GJB2, GJB4, GJC2
2erythrokeratodermia variabilis et progressiva28.0GJA1, GJA4, GJB2, GJB4, LOR
3oculodentodigital dysplasia, autosomal recessive12.3
4oculodentoosseous dysplasia recessive11.9
5oculodentodigital dysplasia dominant11.9
6hyperlipidemia type 311.2
7oppositional defiant disorder11.2
8fraser syndrome11.2
9schizotypal personality disorder10.9
10ego-dystonic sexual orientation10.9
11optic disk drusen10.9
12pseudopapilledema10.9
13scalp-ear-nipple syndrome10.8
14hystrix-like ichthyosis with deafness10.2GJA1, GJB2
15non-hypoproteinemic hypertrophic gastropathy10.2GJB2, GJB4
16persistent hyperplastic primary vitreous10.1
17third-degree atrioventricular block10.1GJA4, GJA5
18punctate palmoplantar keratoderma type 210.1GJB2, GJB4
19tricuspid valve disease10.1GJA1, GJA5
20cerebritis10.0
21spastic paraplegia 50, autosomal recessive10.0GJB2, GJB4
22prostate malignant phyllodes tumor10.0GJA1, GJA5
23pelvic dysplasia arthrogryposis of lower limbs9.9GJA1, GJC2
24ectodermal dysplasia 2, clouston type9.9GJB2, LOR
25cerebellar ataxia, mental retardation and dysequlibrium syndrome9.9GJA1, GJC2
26troyer syndrome9.9GJA1, GJB2, GJB4
27localized lichen myxedematosus with mixed features of different subtypes9.9GJA1, GJB2
28dementia, familial british9.8GJA1, GJB2, GJB4
29steroid inherited metabolic disorder9.8GJB4, LOR
30hallermann-streiff syndrome9.8
31heart disease9.8
32diarrhea9.8
33keratosis9.8
34dysostosis9.8
35palmoplantar keratosis9.8
36paraplegia9.8
37cleft lip9.8
38glioma9.8
39spasticity9.8
40hallux varus and preaxial polysyndactyly9.8GJA1, GJC2
41breast fibroadenoma9.7GJA1, GJB2
42small non-cleaved cell lymphoma9.6GJB2, GJB4, LOR
43pseudohermaphrodism anorectal anomalies9.3GJA1, GJB2, GJB4, LOR

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:

 64 54 (show all 120)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cleft palate64 54 hallmark (90%) Very frequent (99-80%) HP:0000175
2 underdeveloped nasal alae64 54 hallmark (90%) Very frequent (99-80%) HP:0000430
3 narrow nasal bridge64 54 hallmark (90%) Very frequent (99-80%) HP:0000446
4 anteverted nares64 54 hallmark (90%) Very frequent (99-80%) HP:0000463
5 microcornea64 54 hallmark (90%) Very frequent (99-80%) HP:0000482
6 carious teeth64 54 hallmark (90%) Very frequent (99-80%) HP:0000670
7 abnormality of dental enamel64 54 hallmark (90%) Very frequent (99-80%) HP:0000682
8 toe syndactyly64 54 hallmark (90%) Very frequent (99-80%) HP:0001770
9 clinodactyly of the 5th finger64 54 hallmark (90%) Very frequent (99-80%) HP:0004209
10 finger syndactyly64 54 hallmark (90%) Very frequent (99-80%) HP:0006101
11 premature loss of primary teeth64 54 hallmark (90%) Very frequent (99-80%) HP:0006323
12 reduced number of teeth64 54 hallmark (90%) Very frequent (99-80%) HP:0009804
13 broad columella64 54 hallmark (90%) Very frequent (99-80%) HP:0010761
14 camptodactyly of finger64 54 hallmark (90%) Frequent (79-30%) HP:0100490
15 abnormality of the urinary system64 typical (50%) HP:0000079
16 median cleft lip64 54 typical (50%) Frequent (79-30%) HP:0000161
17 broad alveolar ridges64 54 typical (50%) Frequent (79-30%) HP:0000187
18 mandibular prognathia64 54 typical (50%) Frequent (79-30%) HP:0000303
19 hypertelorism64 54 typical (50%) Frequent (79-30%) HP:0000316
20 high forehead64 54 typical (50%) Frequent (79-30%) HP:0000348
21 conductive hearing impairment64 54 typical (50%) Frequent (79-30%) HP:0000405
22 glaucoma64 54 typical (50%) Frequent (79-30%) HP:0000501
23 visual impairment64 54 typical (50%) Frequent (79-30%) HP:0000505
24 cataract64 54 typical (50%) Frequent (79-30%) HP:0000518
25 hypermetropia64 typical (50%) HP:0000540
26 myopia64 54 typical (50%) Frequent (79-30%) HP:0000545
27 hypotelorism64 54 typical (50%) Frequent (79-30%) HP:0000601
28 optic atrophy64 54 typical (50%) Frequent (79-30%) HP:0000648
29 abnormality of the metaphyses64 54 typical (50%) Frequent (79-30%) HP:0000944
30 abnormality of the fingernails64 54 typical (50%) Frequent (79-30%) HP:0001231
31 seizures64 54 typical (50%) Frequent (79-30%) HP:0001250
32 hypertonia64 typical (50%) HP:0001276
33 gait disturbance64 54 typical (50%) Frequent (79-30%) HP:0001288
34 muscle weakness64 54 typical (50%) Frequent (79-30%) HP:0001324
35 hyperreflexia64 54 typical (50%) Frequent (79-30%) HP:0001347
36 neurological speech impairment64 typical (50%) HP:0002167
37 slow-growing hair64 54 typical (50%) Frequent (79-30%) HP:0002217
38 incoordination64 typical (50%) HP:0002311
39 cerebral calcification64 54 typical (50%) Frequent (79-30%) HP:0002514
40 abnormal cortical bone morphology64 54 typical (50%) Frequent (79-30%) HP:0003103
41 short nose64 54 typical (50%) Frequent (79-30%) HP:0003196
42 hemiplegia/hemiparesis64 typical (50%) HP:0004374
43 craniofacial hyperostosis64 typical (50%) HP:0004493
44 aplasia/hypoplasia of the cerebellum64 54 typical (50%) Frequent (79-30%) HP:0007360
45 external ear malformation64 54 typical (50%) Frequent (79-30%) HP:0008572
46 abnormal hair quantity64 typical (50%) HP:0011362
47 cognitive impairment64 typical (50%) HP:0100543
48 epicanthus64 54 occasional (7.5%) Occasional (29-5%) HP:0000286
49 micrognathia64 54 occasional (7.5%) Occasional (29-5%) HP:0000347
50 strabismus64 54 occasional (7.5%) Occasional (29-5%) HP:0000486
51 deeply set eye64 54 occasional (7.5%) Occasional (29-5%) HP:0000490
52 blepharophimosis64 occasional (7.5%) HP:0000581
53 upslanted palpebral fissure64 54 occasional (7.5%) Occasional (29-5%) HP:0000582
54 nystagmus64 54 occasional (7.5%) Occasional (29-5%) HP:0000639
55 taurodontia64 54 occasional (7.5%) Occasional (29-5%) HP:0000679
56 abnormality of the clavicle64 54 occasional (7.5%) Occasional (29-5%) HP:0000889
57 abnormal diaphysis morphology64 54 occasional (7.5%) Occasional (29-5%) HP:0000940
58 palmoplantar keratoderma64 54 occasional (7.5%) Occasional (29-5%) HP:0000982
59 brachydactyly syndrome64 54 occasional (7.5%) Occasional (29-5%) HP:0001156
60 preaxial hand polydactyly64 54 occasional (7.5%) Occasional (29-5%) HP:0001177
61 umbilical hernia64 54 occasional (7.5%) Occasional (29-5%) HP:0001537
62 ventricular septal defect64 54 occasional (7.5%) Occasional (29-5%) HP:0001629
63 hypoglycemia64 54 occasional (7.5%) Occasional (29-5%) HP:0001943
64 fine hair64 54 occasional (7.5%) Occasional (29-5%) HP:0002213
65 madelung deformity64 54 occasional (7.5%) Occasional (29-5%) HP:0003067
66 abnormal form of the vertebral bodies64 54 occasional (7.5%) Occasional (29-5%) HP:0003312
67 aplasia/hypoplasia of the iris64 occasional (7.5%) HP:0008053
68 short hallux64 54 occasional (7.5%) Occasional (29-5%) HP:0010109
69 arrhythmia64 54 occasional (7.5%) Occasional (29-5%) HP:0011675
70 non-midline cleft lip64 54 occasional (7.5%) Occasional (29-5%) HP:0100335
71 neurogenic bladder64 54 rare (5%) Frequent (79-30%) HP:0000011
72 abnormality of the pinna64 rare (5%) HP:0000377
73 atria septal defect64 rare (5%) HP:0001631
74 cleft upper lip64 HP:0000204
75 microcephaly64 HP:0000252
76 microphthalmia64 HP:0000568
77 microdontia64 HP:0000691
78 intellectual disability64 54 Occasional (29-5%) HP:0001249
79 ataxia64 54 Frequent (79-30%) HP:0001251
80 spasticity64 54 Frequent (79-30%) HP:0001257
81 dysarthria64 54 Frequent (79-30%) HP:0001260
82 selective tooth agenesis64 HP:0001592
83 fragile nails64 HP:0001808
84 basal ganglia calcification64 HP:0002135
85 tetraparesis64 HP:0002273
86 paraparesis64 HP:0002385
87 abnormality of the cerebral white matter64 HP:0002500
88 hip dislocation64 HP:0002827
89 cubitus valgus64 HP:0002967
90 short middle phalanx of the 5th finger64 HP:0004220
91 thin anteverted nares64 54 Frequent (79-30%) HP:0004495
92 hypoplasia of dental enamel64 HP:0006297
93 premature loss of teeth64 HP:0006480
94 hyperactive deep tendon reflexes64 HP:0006801
95 sparse hair64 HP:0008070
96 vertebral hyperostosis64 HP:0008442
97 joint contracture of the 5th finger64 HP:0009183
98 3-4 toe syndactyly64 HP:0009779
99 4-5 finger syndactyly64 HP:0010705
100 dry hair64 HP:0011359
101 short palpebral fissure64 HP:0012745
102 clinodactyly64 54 Frequent (79-30%) HP:0030084
103 hearing impairment54 Occasional (29-5%)
104 abnormality of the nose54 Very frequent (99-80%)
105 abnormality of the eye54 Frequent (79-30%)
106 abnormality of vision54 Frequent (79-30%)
107 abnormality of the iris54 Occasional (29-5%)
108 abnormality of the ear54 Very frequent (99-80%)
109 hypotrichosis54 Frequent (79-30%)
110 hand polydactyly54 Occasional (29-5%)
111 abnormality of the nail54 Frequent (79-30%)
112 curly hair54 Frequent (79-30%)
113 brittle hair54 Occasional (29-5%)
114 spastic paraparesis54 Frequent (79-30%)
115 malformation of the heart and great vessels54 Occasional (29-5%)
116 cranial hyperostosis54 Frequent (79-30%)
117 high-grade hypermetropia54 Frequent (79-30%)
118 aplasia/hypoplasia of the middle phalanges of the hand54 Frequent (79-30%)
119 mild global developmental delay54 Frequent (79-30%)
120 hyperostosis54 Frequent (79-30%)

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00210-A10.0GJA1, GJA5, GJB2
2GR00366-A-589.5GJA4, GJA5

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 387129497-78-5
Synonyms:
Verteporfin
 
Verteporfina
Verteporfinum
Vertéporfine
2Dermatologic AgentsPhase 3, Phase 25674
3Photosensitizing AgentsPhase 3, Phase 2476
4
Aminolevulinic acidapprovedPhase 2157106-60-5137
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 27793
6carnitineNutraceutical158

Interventional clinical trials:

(show all 11)
idNameStatusNCT IDPhase
1Two Studies to Determine if Verteporfin PDT is Effective & Safe in Treating Multiple Basal Cell Carcinoma of the Skin.TerminatedNCT00049959Phase 3
2A Trial to Evaluate the Safety, Local Tolerability, Pharmacokinetics and Pharmacodynamics of LDE225 on Skin Basal Cell Carcinomas in Gorlin Syndrome PatientsCompletedNCT00961896Phase 2
3To Determine The Efficacy and Safety of GDC-0449 in Patients With Basal Cell Nevus Syndrome (BCNS)CompletedNCT00957229Phase 2
4Trial Comparing the Effects of Intermittent Vismodegib vs. PDT in Patients With Multiple Basal Cell CarcinomasCompletedNCT01556009Phase 2
5Efficacy, Safety and Pharmacokinetics of Oral LDE225 in Treatment of Patients With Nevoid Basal Cell Carcinoma Syndrome (NBCCS)CompletedNCT01350115Phase 2
6Clinical Trial of Patidegib Gel 2%, 4%, and Vehicle Applied Once or Twice Daily to Decrease the Size of Sporadic Nodular Basal Cell CarcinomasRecruitingNCT02828111Phase 2
7Trial of Patidegib Gel 2%, 4%, and Vehicle to Decrease the Number of Surgically Eligible Basal Cell Carcinomas (BCC) in Gorlin Syndrome PatientsActive, not recruitingNCT02762084Phase 2
8A Clinical Trial of Dermacorder for Detecting Malignant Skin LesionsCompletedNCT01014819
9An Observational Study of the Effectiveness and Safety of Erivedge® in Patients With Advanced Basal Cell CarcinomaRecruitingNCT02371967
10Blue vs Red Light During Levulan Based Photodynamic Therapy in Patients With Basal Cell Nevus SyndromeActive, not recruitingNCT02157623
11Levocarnitine in Treating Patients With Vismodegib-Associated Muscle SpasmsActive, not recruitingNCT01893892

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, Bone, Heart, Cerebellum, Brain, Kidney

Publications for Oculodentodigital Dysplasia

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Articles related to Oculodentodigital Dysplasia:

(show top 50)    (show all 89)
idTitleAuthorsYear
1
Case report: imaging and treatment of ophthalmic manifestations in oculodentodigital dysplasia. (26743931)
2016
2
Oculodentodigital dysplasia. (27146935)
2016
3
Specific functional pathologies of Cx43 mutations associated with oculodentodigital dysplasia. (27226478)
2016
4
Oculodentodigital Dysplasia with Massive Brain Calcification and a New Mutation of GJA1 Gene. (26444782)
2015
5
Manipulating Cx43 expression triggers gene reprogramming events in dermal fibroblasts from oculodentodigital dysplasia patients. (26349540)
2015
6
Missense and deletion mutations in GJA1 causing oculodentodigital dysplasia in two Indian families. (26087145)
2015
7
Clinical manifestations of oculodentodigital dysplasia. (25231047)
2014
8
Japanese case of oculodentodigital dysplasia caused by a mutation in the GJA1 gene. (25327171)
2014
9
Palmoplantar keratosis in oculodentodigital dysplasia with a GJA1 point mutation out of the C-terminal region of connexin 43. (25388818)
2014
10
Dominant De Novo Mutations in GJA1 Cause Erythrokeratodermia Variabilis Et Progressiva, without Features of Oculodentodigital Dysplasia. (25398053)
2014
11
Myogenic bladder defects in mouse models of human oculodentodigital dysplasia. (24228978)
2014
12
Maxillo-facial radiology case 118. Oculodentodigital dysplasia. (24974522)
2014
13
Cerebral ischemic injury is enhanced in a model of oculodentodigital dysplasia. (23727526)
2013
14
Congenital heart defects in oculodentodigital dysplasia: Report of two cases. (24115525)
2013
15
Neurological manifestations of oculodentodigital dysplasia: a Cx43 channelopathy of the central nervous system? (24133447)
2013
16
Autosomal recessive GJA1 (Cx43) gene mutations cause oculodentodigital dysplasia by distinct mechanisms. (23606748)
2013
17
A novel GJA1 mutation in oculodentodigital dysplasia with progressive spastic paraplegia and sensory deficits. (22214631)
2012
18
Teaching neuroimages: oculodentodigital dysplasia: hypomyelination and syndactyly. (23071171)
2012
19
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
20
Characterization of gap junction proteins in the bladder of Cx43 mutant mouse models of oculodentodigital dysplasia. (22752022)
2012
21
Cleft lip in oculodentodigital dysplasia suggests novel roles for connexin43. (22699666)
2012
22
Structure and functional studies of N-terminal Cx43 mutants linked to oculodentodigital dysplasia. (22809623)
2012
23
Male reproductive system defects and subfertility in a mutant mouse model of oculodentodigital dysplasia. (22004529)
2011
24
The G60S connexin43 mutant regulates hair growth and hair fiber morphology in a mouse model of human oculodentodigital dysplasia. (21716323)
2011
25
Atrial tachycardia/fibrillation in the connexin 43 G60S mutant (Oculodentodigital dysplasia) mouse. (21239638)
2011
26
Ocular pathology relevant to glaucoma in a Gja1(Jrt/+) mouse model of human oculodentodigital dysplasia. (21273537)
2011
27
Oculodentodigital dysplasia: ulnar-sided syndactyly and its associated disorders. (22036282)
2011
28
Human dermal fibroblasts derived from oculodentodigital dysplasia patients suggest that patients may have wound-healing defects. (21305658)
2011
29
Oculodentodigital dysplasia: new ocular findings and a novel connexin 43 mutation. (21670345)
2011
30
A severe progressive oculodentodigital dysplasia due to compound heterozygous GJA1 mutation. (20597923)
2010
31
Dental management of oculodentodigital dysplasia: a case report. (20587963)
2010
32
Oogenesis defects in a mutant mouse model of oculodentodigital dysplasia. (19259389)
2009
33
A case of oculodentodigital dysplasia syndrome with novel GJA1 gene mutation. (19847613)
2009
34
A novel GJA1 missense mutation in a Polish child with oculodentodigital dysplasia. (19638688)
2009
35
GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype. (19338053)
2009
36
Ocular manifestations in oculodentodigital dysplasia resulting from a heterozygous missense mutation (L113P) in GJA1 (connexin 43). (18425059)
2009
37
Oculodentodigital dysplasia: disease spectrum in an eight-year-old boy, his parents and a sibling. (19725242)
2009
38
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
39
Decreased levels of connexin43 result in impaired development of the mammary gland in a mouse model of oculodentodigital dysplasia. (18455714)
2008
40
Report of a black South African child with oculodentodigital dysplasia and a novel GJA1 gene mutation. (18412120)
2008
41
Expanding the neurologic phenotype of oculodentodigital dysplasia in a 4-generation Hispanic family. (18660473)
2008
42
Variable expression of neurological phenotype in autosomal recessive oculodentodigital dysplasia of two sibs and review of the literature. (17476528)
2008
43
The conditional connexin43G138R mouse mutant represents a new model of hereditary oculodentodigital dysplasia in humans. (18003637)
2008
44
Some oculodentodigital dysplasia-associated Cx43 mutations cause increased hemichannel activity in addition to deficient gap junction channels. (17687502)
2007
45
A new GJA1 (connexin 43) mutation causing oculodentodigital dysplasia associated to uncommon features. (18161618)
2007
46
Oculodentodigital dysplasia with mandibular retrognathism and absence of syndactyly: a case report with a novel mutation in the connexin 43 gene. (17509830)
2007
47
Gap junction remodeling and cardiac arrhythmogenesis in a murine model of oculodentodigital dysplasia. (18077386)
2007
48
Differential potency of dominant negative connexin43 mutants in oculodentodigital dysplasia. (17420259)
2007
49
Functional characterization of a GJA1 frameshift mutation causing oculodentodigital dysplasia and palmoplantar keratoderma. (16891658)
2006
50
Clinical and genetic variability of oculodentodigital dysplasia. (16813608)
2006

Variations for Oculodentodigital Dysplasia

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

70 (show all 42)
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

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, 154TTTduplicationPathogenicChr na, -1: -1
6GJA1NM_000165.4(GJA1): c.286G> A (p.Val96Met)SNVPathogenicrs28931601GRCh37Chr 6, 121768279: 121768279
7GJA1GJA1, 2-BP DEL, 780T-GdeletionPathogenicChr na, -1: -1
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, 679ATdeletionPathogenicChr na, -1: -1
11GJA1NM_000165.4(GJA1): c.226C> A (p.Arg76Ser)SNVLikely pathogenic, Pathogenicrs267606845GRCh37Chr 6, 121768219: 121768219
12GJA1GJA1, 12-BP DEL, NT120deletionPathogenicChr na, -1: -1
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:001470410.1GJA1, GJA5
2lateral plasma membraneGO:00163289.6GJA1, GJB2
3gap junctionGO:00059218.3GJA1, GJA4, GJA5, GJB2, GJC2
4connexin complexGO:00059227.9GJA1, GJA4, GJA5, GJB2, GJB4, GJC2

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

(show all 20)
idNameGO IDScoreTop Affiliating Genes
1cell communicationGO:000715410.5GJA1, GJB4
2atrial ventricular junction remodelingGO:000329410.4GJA1, GJA5
3cardiac conductionGO:006133710.4GJA1, GJA5
4cell communication by chemical couplingGO:001064310.4GJA1, GJA5
5cell communication by electrical couplingGO:001064410.4GJA1, GJA5
6cell communication by electrical coupling involved in cardiac conductionGO:008606410.4GJA1, GJA5
7embryonic heart tube developmentGO:003505010.4GJA1, GJA5
8positive regulation of cell communication by chemical couplingGO:001065210.4GJA1, GJA5
9positive regulation of vasoconstrictionGO:004590710.4GJA1, GJA5
10positive regulation of vasodilationGO:004590910.4GJA1, GJA5
11protein oligomerizationGO:005125910.4GJA1, GJA5
12regulation of atrial cardiac muscle cell membrane depolarizationGO:006037110.4GJA1, GJA5
13regulation of ventricular cardiac muscle cell membrane depolarizationGO:006037310.4GJA1, GJA5
14regulation of ventricular cardiac muscle cell membrane repolarizationGO:006030710.4GJA1, GJA5
15blood vessel developmentGO:000156810.3GJA4, GJA5
16gap junction assemblyGO:00162649.9GJA1, GJA5, GJB2
17endothelium developmentGO:00031589.9GJA1, GJA4, GJA5
18transportGO:00068109.1GJA1, GJA4, GJB2
19transmembrane transportGO:00550859.0GJA1, GJA5, GJB2, GJC2
20cell-cell signalingGO:00072679.0GJA1, GJA4, GJB2, GJC2

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

idNameGO IDScoreTop Affiliating Genes
1connexin bindingGO:007125310.0GJA1, GJA5
2gap junction channel activity involved in cardiac conduction electrical couplingGO:00860759.6GJA1, GJA5
3gap 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