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

About this section

Aliases & Descriptions for Oculodentodigital Dysplasia:

Name: Oculodentodigital Dysplasia 51 11 47 24 25 53 69 26 12 49 38 13
Odd Syndrome 11 47 24 25 69
Oculodentoosseous Dysplasia 24 25 53 69
Oculo-Dento-Digital Dysplasia 47 25 69
Oculodentodigital Syndrome 47 25 69
Oddd 47 25 69
Oculo-Dento-Digital Syndrome 47 69
 
Odod 25 69
Oculodentodigital Dysplasia Syndrome 49
Osseous-Oculo-Dental Dysplasia 25
Oculo-Dento-Osseous Dysplasia 25
Meyer-Schwickerath Syndrome 53
Oddd Syndrome 53
Odds 69

Characteristics:

Orphanet epidemiological data:

53
oculodentodigital dysplasia:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal

HPO:

63
oculodentodigital dysplasia:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM51 164200
Disease Ontology11 DOID:0060291
Orphanet53 ORPHA2710
SNOMED-CT61 31291009, 38215007
UMLS via Orphanet68 C0812437
ICD10 via Orphanet30 Q87.8
MedGen36 C0812437
UMLS67 C0812437

Summaries for Oculodentodigital Dysplasia

About this section
OMIM:51 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.

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

UniProtKB/Swiss-Prot:69 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:47 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:70 Oculodentodigital syndrome (ODD syndrome) is an extremely rare genetic condition that typically results... more...

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 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 for Oculodentodigital Dysplasia

About this section

Symptoms by clinical synopsis from OMIM:

164200

Clinical features from OMIM:

164200

Human phenotypes related to Oculodentodigital Dysplasia:

 63 53 (show all 120)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cleft palate63 53 hallmark (90%) Very frequent (99-80%) HP:0000175
2 underdeveloped nasal alae63 53 hallmark (90%) Very frequent (99-80%) HP:0000430
3 narrow nasal bridge63 53 hallmark (90%) Very frequent (99-80%) HP:0000446
4 anteverted nares63 53 hallmark (90%) Very frequent (99-80%) HP:0000463
5 microcornea63 53 hallmark (90%) Very frequent (99-80%) HP:0000482
6 carious teeth63 53 hallmark (90%) Very frequent (99-80%) HP:0000670
7 abnormality of dental enamel63 53 hallmark (90%) Very frequent (99-80%) HP:0000682
8 toe syndactyly63 53 hallmark (90%) Very frequent (99-80%) HP:0001770
9 clinodactyly of the 5th finger63 53 hallmark (90%) Very frequent (99-80%) HP:0004209
10 finger syndactyly63 53 hallmark (90%) Very frequent (99-80%) HP:0006101
11 premature loss of primary teeth63 53 hallmark (90%) Very frequent (99-80%) HP:0006323
12 reduced number of teeth63 53 hallmark (90%) Very frequent (99-80%) HP:0009804
13 broad columella63 53 hallmark (90%) Very frequent (99-80%) HP:0010761
14 camptodactyly of finger63 53 hallmark (90%) Frequent (79-30%) HP:0100490
15 abnormality of the urinary system63 typical (50%) HP:0000079
16 median cleft lip63 53 typical (50%) Frequent (79-30%) HP:0000161
17 broad alveolar ridges63 53 typical (50%) Frequent (79-30%) HP:0000187
18 mandibular prognathia63 53 typical (50%) Frequent (79-30%) HP:0000303
19 hypertelorism63 53 typical (50%) Frequent (79-30%) HP:0000316
20 high forehead63 53 typical (50%) Frequent (79-30%) HP:0000348
21 conductive hearing impairment63 53 typical (50%) Frequent (79-30%) HP:0000405
22 glaucoma63 53 typical (50%) Frequent (79-30%) HP:0000501
23 visual impairment63 53 typical (50%) Frequent (79-30%) HP:0000505
24 cataract63 53 typical (50%) Frequent (79-30%) HP:0000518
25 hypermetropia63 typical (50%) HP:0000540
26 myopia63 53 typical (50%) Frequent (79-30%) HP:0000545
27 hypotelorism63 53 typical (50%) Frequent (79-30%) HP:0000601
28 optic atrophy63 53 typical (50%) Frequent (79-30%) HP:0000648
29 abnormality of the metaphyses63 53 typical (50%) Frequent (79-30%) HP:0000944
30 abnormality of the fingernails63 53 typical (50%) Frequent (79-30%) HP:0001231
31 seizures63 53 typical (50%) Frequent (79-30%) HP:0001250
32 hypertonia63 typical (50%) HP:0001276
33 gait disturbance63 53 typical (50%) Frequent (79-30%) HP:0001288
34 muscle weakness63 53 typical (50%) Frequent (79-30%) HP:0001324
35 hyperreflexia63 53 typical (50%) Frequent (79-30%) HP:0001347
36 neurological speech impairment63 typical (50%) HP:0002167
37 slow-growing hair63 53 typical (50%) Frequent (79-30%) HP:0002217
38 incoordination63 typical (50%) HP:0002311
39 cerebral calcification63 53 typical (50%) Frequent (79-30%) HP:0002514
40 abnormal cortical bone morphology63 53 typical (50%) Frequent (79-30%) HP:0003103
41 short nose63 53 typical (50%) Frequent (79-30%) HP:0003196
42 hemiplegia/hemiparesis63 typical (50%) HP:0004374
43 craniofacial hyperostosis63 typical (50%) HP:0004493
44 aplasia/hypoplasia of the cerebellum63 53 typical (50%) Frequent (79-30%) HP:0007360
45 external ear malformation63 53 typical (50%) Frequent (79-30%) HP:0008572
46 abnormal hair quantity63 typical (50%) HP:0011362
47 cognitive impairment63 typical (50%) HP:0100543
48 epicanthus63 53 occasional (7.5%) Occasional (29-5%) HP:0000286
49 micrognathia63 53 occasional (7.5%) Occasional (29-5%) HP:0000347
50 strabismus63 53 occasional (7.5%) Occasional (29-5%) HP:0000486
51 deeply set eye63 53 occasional (7.5%) Occasional (29-5%) HP:0000490
52 blepharophimosis63 occasional (7.5%) HP:0000581
53 upslanted palpebral fissure63 53 occasional (7.5%) Occasional (29-5%) HP:0000582
54 nystagmus63 53 occasional (7.5%) Occasional (29-5%) HP:0000639
55 taurodontia63 53 occasional (7.5%) Occasional (29-5%) HP:0000679
56 abnormality of the clavicle63 53 occasional (7.5%) Occasional (29-5%) HP:0000889
57 abnormal diaphysis morphology63 53 occasional (7.5%) Occasional (29-5%) HP:0000940
58 palmoplantar keratoderma63 53 occasional (7.5%) Occasional (29-5%) HP:0000982
59 brachydactyly syndrome63 53 occasional (7.5%) Occasional (29-5%) HP:0001156
60 preaxial hand polydactyly63 53 occasional (7.5%) Occasional (29-5%) HP:0001177
61 umbilical hernia63 53 occasional (7.5%) Occasional (29-5%) HP:0001537
62 ventricular septal defect63 53 occasional (7.5%) Occasional (29-5%) HP:0001629
63 hypoglycemia63 53 occasional (7.5%) Occasional (29-5%) HP:0001943
64 fine hair63 53 occasional (7.5%) Occasional (29-5%) HP:0002213
65 madelung deformity63 53 occasional (7.5%) Occasional (29-5%) HP:0003067
66 abnormal form of the vertebral bodies63 53 occasional (7.5%) Occasional (29-5%) HP:0003312
67 aplasia/hypoplasia of the iris63 occasional (7.5%) HP:0008053
68 short hallux63 53 occasional (7.5%) Occasional (29-5%) HP:0010109
69 arrhythmia63 53 occasional (7.5%) Occasional (29-5%) HP:0011675
70 non-midline cleft lip63 53 occasional (7.5%) Occasional (29-5%) HP:0100335
71 neurogenic bladder63 53 rare (5%) Frequent (79-30%) HP:0000011
72 abnormality of the pinna63 rare (5%) HP:0000377
73 atria septal defect63 rare (5%) HP:0001631
74 cleft upper lip63 HP:0000204
75 microcephaly63 HP:0000252
76 microphthalmia63 HP:0000568
77 microdontia63 HP:0000691
78 intellectual disability63 53 Occasional (29-5%) HP:0001249
79 ataxia63 53 Frequent (79-30%) HP:0001251
80 spasticity63 53 Frequent (79-30%) HP:0001257
81 dysarthria63 53 Frequent (79-30%) HP:0001260
82 selective tooth agenesis63 HP:0001592
83 fragile nails63 HP:0001808
84 basal ganglia calcification63 HP:0002135
85 tetraparesis63 HP:0002273
86 paraparesis63 HP:0002385
87 abnormality of the cerebral white matter63 HP:0002500
88 hip dislocation63 HP:0002827
89 cubitus valgus63 HP:0002967
90 short middle phalanx of the 5th finger63 HP:0004220
91 thin anteverted nares63 53 Frequent (79-30%) HP:0004495
92 hypoplasia of dental enamel63 HP:0006297
93 premature loss of teeth63 HP:0006480
94 hyperactive deep tendon reflexes63 HP:0006801
95 sparse hair63 HP:0008070
96 vertebral hyperostosis63 HP:0008442
97 joint contracture of the 5th finger63 HP:0009183
98 3-4 toe syndactyly63 HP:0009779
99 4-5 finger syndactyly63 HP:0010705
100 dry hair63 HP:0011359
101 short palpebral fissure63 HP:0012745
102 clinodactyly63 53 Frequent (79-30%) HP:0030084
103 hearing impairment53 Occasional (29-5%)
104 abnormality of the nose53 Very frequent (99-80%)
105 abnormality of the eye53 Frequent (79-30%)
106 abnormality of vision53 Frequent (79-30%)
107 abnormality of the iris53 Occasional (29-5%)
108 abnormality of the ear53 Very frequent (99-80%)
109 hypotrichosis53 Frequent (79-30%)
110 hand polydactyly53 Occasional (29-5%)
111 abnormality of the nail53 Frequent (79-30%)
112 curly hair53 Frequent (79-30%)
113 brittle hair53 Occasional (29-5%)
114 spastic paraparesis53 Frequent (79-30%)
115 malformation of the heart and great vessels53 Occasional (29-5%)
116 cranial hyperostosis53 Frequent (79-30%)
117 high-grade hypermetropia53 Frequent (79-30%)
118 aplasia/hypoplasia of the middle phalanges of the hand53 Frequent (79-30%)
119 mild global developmental delay53 Frequent (79-30%)
120 hyperostosis53 Frequent (79-30%)

Drugs & Therapeutics for Oculodentodigital Dysplasia

About this section

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

About this section

Genetic tests related to Oculodentodigital Dysplasia:

id Genetic test Affiliating Genes
1 Oculodentodigital Dysplasia26 24 GJA1

Anatomical Context for Oculodentodigital Dysplasia

About this section

MalaCards organs/tissues related to Oculodentodigital Dysplasia:

35
Eye, Skin, Bone, Heart, Cerebellum, Brain, Kidney

Animal Models for Oculodentodigital Dysplasia or affiliated genes

About this section

Publications for Oculodentodigital Dysplasia

About this section

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
Clinical manifestations of oculodentodigital dysplasia. (25231047)
2014
7
Cerebral ischemic injury is enhanced in a model of oculodentodigital dysplasia. (23727526)
2013
8
Congenital heart defects in oculodentodigital dysplasia: Report of two cases. (24115525)
2013
9
A novel GJA1 mutation in oculodentodigital dysplasia with progressive spastic paraplegia and sensory deficits. (22214631)
2012
10
Teaching neuroimages: oculodentodigital dysplasia: hypomyelination and syndactyly. (23071171)
2012
11
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
12
Male reproductive system defects and subfertility in a mutant mouse model of oculodentodigital dysplasia. (22004529)
2011
13
The G60S connexin43 mutant regulates hair growth and hair fiber morphology in a mouse model of human oculodentodigital dysplasia. (21716323)
2011
14
Atrial tachycardia/fibrillation in the connexin 43 G60S mutant (Oculodentodigital dysplasia) mouse. (21239638)
2011
15
Ocular pathology relevant to glaucoma in a Gja1(Jrt/+) mouse model of human oculodentodigital dysplasia. (21273537)
2011
16
A severe progressive oculodentodigital dysplasia due to compound heterozygous GJA1 mutation. (20597923)
2010
17
Oogenesis defects in a mutant mouse model of oculodentodigital dysplasia. (19259389)
2009
18
A case of oculodentodigital dysplasia syndrome with novel GJA1 gene mutation. (19847613)
2009
19
Decreased levels of connexin43 result in impaired development of the mammary gland in a mouse model of oculodentodigital dysplasia. (18455714)
2008
20
Report of a black South African child with oculodentodigital dysplasia and a novel GJA1 gene mutation. (18412120)
2008
21
Expanding the neurologic phenotype of oculodentodigital dysplasia in a 4-generation Hispanic family. (18660473)
2008
22
Variable expression of neurological phenotype in autosomal recessive oculodentodigital dysplasia of two sibs and review of the literature. (17476528)
2008
23
The conditional connexin43G138R mouse mutant represents a new model of hereditary oculodentodigital dysplasia in humans. (18003637)
2008
24
Some oculodentodigital dysplasia-associated Cx43 mutations cause increased hemichannel activity in addition to deficient gap junction channels. (17687502)
2007
25
A new GJA1 (connexin 43) mutation causing oculodentodigital dysplasia associated to uncommon features. (18161618)
2007
26
Oculodentodigital dysplasia with mandibular retrognathism and absence of syndactyly: a case report with a novel mutation in the connexin 43 gene. (17509830)
2007
27
Functional characterization of a GJA1 frameshift mutation causing oculodentodigital dysplasia and palmoplantar keratoderma. (16891658)
2006
28
Clinical and genetic variability of oculodentodigital dysplasia. (16813608)
2006
29
Gene symbol: GJA1. Disease: oculodentodigital dysplasia. (15818811)
2005
30
Oculodentodigital dysplasia-causing connexin43 mutants are non-functional and exhibit dominant effects on wild-type connexin43. (15644317)
2005
31
A novel GJA1 mutation causes oculodentodigital dysplasia without syndactyly. (15637728)
2005
32
Physical map of the chromosome 6q22 region containing the oculodentodigital dysplasia locus: analysis of thirteen candidate genes and identification of novel ESTs and DNA polymorphisms. (12584438)
2002
33
Linkage analysis narrows the critical region for oculodentodigital dysplasia to chromosome 6q22-q23. (10331943)
1999
34
The different appearance of the oculodentodigital dysplasia syndrome. (9481652)
1998
35
Central nervous system abnormalities in oculodentodigital dysplasia. (8897047)
1996
36
Oculodentodigital dysplasia with cerebral white matter abnormalities in a two-generation family. (7677152)
1995
37
Type III syndactyly and oculodentodigital dysplasia: a clinical spectrum. (8110413)
1993
38
Oculodentodigital dysplasia syndrome associated with abnormal cerebral white matter. (1659191)
1991
39
Delayed gastric emptying and chronic diarrhea in a patient with oculodentodigital dysplasia syndrome. (3083083)
1986
40
Oculodentodigital dysplasia. Four new reports and a literature review. (220941)
1979
41
Oculodentodigital dysplasia syndrome with angle-closure glaucoma. (677231)
1978
42
Oculodentodigital dysplasia. (406906)
1977
43
Congenital heart disease in oculodentodigital dysplasia. (403698)
1977
44
Oculodentodigital dysplasia syndrome. Report of four cases. (197779)
1977
45
Intraoral findings of oculodentodigital dysplasia. (824333)
1976
46
A family with oculodentodigital dysplasia. (1057461)
1975
47
Oculodentodigital dysplasia. Picture of the month. (4209752)
1974
48
Oculodentodigital dysplasia syndrome. (4994052)
1971
49
Oculodentodigital dysplasia. (5820606)
1969
50
Oculodentodigital dysplasia. (13949300)
1963

Variations for Oculodentodigital Dysplasia

About this section

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

69 (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

About this section
Search GEO for disease gene expression data for Oculodentodigital Dysplasia.

Pathways for genes affiliated with Oculodentodigital Dysplasia

About this section

GO Terms for genes affiliated with Oculodentodigital Dysplasia

About this section

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

idNameGO IDScoreTop Affiliating Genes
1lateral plasma membraneGO:00163289.6GJA1, GJB2
2intercalated discGO:00147049.3GJA1, GJA5
3connexin complexGO:00059227.9GJA1, GJA4, GJA5, GJB2, GJB4, GJC2
4gap junctionGO:00059217.7GJA1, GJA4, GJA5, GJB2, GJC2

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

(show all 20)
idNameGO IDScoreTop Affiliating Genes
1atrial ventricular junction remodelingGO:000329410.4GJA1, GJA5
2positive regulation of cell communication by chemical couplingGO:001065210.4GJA1, GJA5
3regulation of atrial cardiac muscle cell membrane depolarizationGO:006037110.3GJA1, GJA5
4cell communication by electrical coupling involved in cardiac conductionGO:008606410.3GJA1, GJA5
5cardiac conductionGO:006133710.3GJA1, GJA5
6regulation of ventricular cardiac muscle cell membrane repolarizationGO:006030710.3GJA1, GJA5
7regulation of ventricular cardiac muscle cell membrane depolarizationGO:006037310.3GJA1, GJA5
8positive regulation of vasodilationGO:004590910.2GJA1, GJA5
9cell communication by electrical couplingGO:001064410.1GJA1, GJA5
10cell communication by chemical couplingGO:001064310.1GJA1, GJA5
11positive regulation of vasoconstrictionGO:004590710.1GJA1, GJA5
12embryonic heart tube developmentGO:003505010.0GJA1, GJA5
13cell communicationGO:00071549.9GJA1, GJB4
14blood vessel developmentGO:00015689.8GJA4, GJA5
15endothelium developmentGO:00031589.7GJA1, GJA4, GJA5
16protein oligomerizationGO:00512599.7GJA1, GJA5
17gap junction assemblyGO:00162649.6GJA1, GJA5, GJB2
18transportGO:00068109.1GJA1, GJA4, GJB2
19cell-cell signalingGO:00072678.5GJA1, GJA4, GJB2, GJC2
20transmembrane transportGO:00550858.5GJA1, GJA5, GJB2, GJC2

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

idNameGO IDScoreTop Affiliating Genes
1gap junction channel activity involved in cardiac conduction electrical couplingGO:00860759.8GJA1, GJA5
2connexin bindingGO:00712539.6GJA1, GJA5
3gap junction channel activityGO:00052438.3GJA1, GJA5, GJB2, GJC2

Sources for Oculodentodigital Dysplasia

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet