MCID: OCL013
MIFTS: 58

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 50 11 46 23 24 13 52 68 25 12 48 37
Odd Syndrome 11 46 23 24 68
Oculodentoosseous Dysplasia 23 24 52 68
Oculo-Dento-Digital Dysplasia 46 24 68
Oculodentodigital Syndrome 46 24 68
Oddd 46 24 68
Oculo-Dento-Digital Syndrome 46 68
 
Odod 24 68
Oculodentodigital Dysplasia Syndrome 48
Osseous-Oculo-Dental Dysplasia 24
Oculo-Dento-Osseous Dysplasia 24
Meyer-Schwickerath Syndrome 52
Oddd Syndrome 52
Odds 68

Characteristics:

Orphanet epidemiological data:

52
oculodentodigital dysplasia:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal

HPO:

62
oculodentodigital dysplasia:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 164200
Disease Ontology11 DOID:0060291
Orphanet52 ORPHA2710
SNOMED-CT60 31291009, 38215007
ICD10 via Orphanet29 Q87.8
UMLS via Orphanet67 C0812437
MedGen35 C0812437
UMLS66 C0812437

Summaries for Oculodentodigital Dysplasia

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OMIM:50 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 oculodentodigital dysplasia, autosomal recessive 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 Transport of connexins along the secretory pathway. Affiliated tissues include eye, skin and bone, and related mouse phenotype mortality/aging.

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

Genetics Home Reference:24 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:46 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

UniProtKB/Swiss-Prot:68 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:69 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 top 50)    (show all 52)
idRelated DiseaseScoreTop Affiliating Genes
1oculodentodigital dysplasia, autosomal recessive34.2GFER, GJA1
2erythrokeratodermia variabilis et progressiva26.1GFER, GJA1, GJA4, GJB1, GJB2, GJB3
3syndactyly, type iii25.1GFER, GJA1, GJA4, GJA5, GJB1, GJB2
4oculodentoosseous dysplasia recessive12.0
5oculodentodigital dysplasia dominant12.0
6fraser syndrome11.3
7scalp-ear-nipple syndrome10.9
8chromosome 6pter-p24 deletion syndrome10.6GFER, GJA1
9craniometaphyseal dysplasia, autosomal recessive10.5GFER, GJA1
10atrioventricular septal defect 310.5GFER, GJA1
11palmoplantar keratoderma with congenital alopecia10.5GFER, GJA1
12hypoplastic left heart syndrome 110.5GFER, GJA1
13hystrix-like ichthyosis with deafness10.4GJA1, GJB2
14tricuspid valve disease10.3GJA1, GJA5
15syndactyly10.3
16persistent hyperplastic primary vitreous10.3
17cerebellar ataxia, mental retardation and dysequlibrium syndrome10.3GJA1, GJC2
18congenital nephrotic syndrome finnish type10.2GJB1, GJB2
19ectodermal dysplasia 2, clouston type10.2GJB2, LOR
20cerebritis10.2
21troyer syndrome10.1GJA1, GJB2, GJB4
22third-degree atrioventricular block10.1GJA4, GJA5
23prostate malignant phyllodes tumor10.1GJA1, GJA5
24noonan syndrome with multiple lentigines9.9GJB2, GJB3
25hallermann-streiff syndrome9.9
26heart disease9.9
27diarrhea9.9
28keratosis9.9
29congenital heart disease9.9
30dysostosis9.9
31palmoplantar keratosis9.9
32paraplegia9.9
33cleft lip9.9
34glioma9.9
35spasticity9.9
36pelvic dysplasia arthrogryposis of lower limbs9.9GJA1, GJB1, GJC2
37hallux varus and preaxial polysyndactyly9.9GJA1, GJB1, GJC2
38continuous spike-wave during slow sleep syndrome9.8GJB2, GJB3
39sublingual gland cancer9.8GJB2, GJB3
40nonsyndromic hearing loss and deafness, autosomal recessive9.8GJB2, GJB3
41self-healing papular mucinosis9.7GJB2, GJB3
42localized lichen myxedematosus with mixed features of different subtypes9.7GJA1, GJB2, GJB3
43non-hypoproteinemic hypertrophic gastropathy9.6GJB2, GJB3, GJB4
44punctate palmoplantar keratoderma type 29.6GJB2, GJB3, GJB4
45dihydrolipoamide dehydrogenase deficiency9.6GJB2, GJB3
46pyelitis9.6GJB2, GJB3
47spastic paraplegia 50, autosomal recessive9.6GJB2, GJB3, GJB4
48deafness, autosomal dominant 3a9.5GJB1, GJB2, GJB3
49dementia, familial british9.4GJA1, GJB2, GJB3, GJB4
50hyperimmunoglobulin syndrome9.3GJB2, GJB3

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



Diseases related to oculodentodigital dysplasia

Symptoms for Oculodentodigital Dysplasia

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Symptoms by clinical synopsis from OMIM:

164200

Clinical features from OMIM:

164200

Symptoms:

 52 (show all 84)
  • neurogenic bladder
  • median cleft lip
  • cleft palate
  • broad alveolar ridges
  • epicanthus
  • mandibular prognathia
  • hypertelorism
  • micrognathia
  • high forehead
  • hearing impairment
  • abnormality of the nose
  • conductive hearing impairment
  • underdeveloped nasal alae
  • narrow nasal bridge
  • anteverted nares
  • abnormality of the eye
  • microcornea
  • strabismus
  • deeply set eye
  • glaucoma
  • abnormality of vision
  • visual impairment
  • cataract
  • abnormality of the iris
  • myopia
  • upslanted palpebral fissure
  • abnormality of the ear
  • hypotelorism
  • nystagmus
  • optic atrophy
  • carious teeth
  • taurodontia
  • abnormality of dental enamel
  • abnormality of the clavicle
  • abnormal diaphysis morphology
  • abnormality of the metaphyses
  • palmoplantar keratoderma
  • hypotrichosis
  • brachydactyly syndrome
  • hand polydactyly
  • preaxial hand polydactyly
  • abnormality of the fingernails
  • intellectual disability
  • seizures
  • ataxia
  • spasticity
  • dysarthria
  • gait disturbance
  • muscle weakness
  • hyperreflexia
  • umbilical hernia
  • abnormality of the nail
  • ventricular septal defect
  • toe syndactyly
  • hypoglycemia
  • curly hair
  • fine hair
  • slow-growing hair
  • brittle hair
  • spastic paraparesis
  • cerebral calcification
  • malformation of the heart and great vessels
  • madelung deformity
  • abnormal cortical bone morphology
  • short nose
  • abnormal form of the vertebral bodies
  • clinodactyly of the 5th finger
  • cranial hyperostosis
  • thin anteverted nares
  • finger syndactyly
  • premature loss of primary teeth
  • aplasia/hypoplasia of the cerebellum
  • high-grade hypermetropia
  • external ear malformation
  • reduced number of teeth
  • aplasia/hypoplasia of the middle phalanges of the hand
  • short hallux
  • broad columella
  • mild global developmental delay
  • arrhythmia
  • clinodactyly
  • non-midline cleft lip
  • camptodactyly of finger
  • hyperostosis

HPO human phenotypes related to Oculodentodigital Dysplasia:

(show all 120)
id Description Frequency HPO Source Accession
1 cleft palate hallmark (90%) HP:0000175
2 underdeveloped nasal alae hallmark (90%) HP:0000430
3 narrow nasal bridge hallmark (90%) HP:0000446
4 anteverted nares hallmark (90%) HP:0000463
5 microcornea hallmark (90%) HP:0000482
6 carious teeth hallmark (90%) HP:0000670
7 abnormality of dental enamel hallmark (90%) HP:0000682
8 toe syndactyly hallmark (90%) HP:0001770
9 clinodactyly of the 5th finger hallmark (90%) HP:0004209
10 finger syndactyly hallmark (90%) HP:0006101
11 premature loss of primary teeth hallmark (90%) HP:0006323
12 reduced number of teeth hallmark (90%) HP:0009804
13 broad columella hallmark (90%) HP:0010761
14 camptodactyly of finger hallmark (90%) HP:0100490
15 abnormality of the urinary system typical (50%) HP:0000079
16 median cleft lip typical (50%) HP:0000161
17 broad alveolar ridges typical (50%) HP:0000187
18 mandibular prognathia typical (50%) HP:0000303
19 hypertelorism typical (50%) HP:0000316
20 high forehead typical (50%) HP:0000348
21 conductive hearing impairment typical (50%) HP:0000405
22 glaucoma typical (50%) HP:0000501
23 visual impairment typical (50%) HP:0000505
24 cataract typical (50%) HP:0000518
25 hypermetropia typical (50%) HP:0000540
26 myopia typical (50%) HP:0000545
27 hypotelorism typical (50%) HP:0000601
28 optic atrophy typical (50%) HP:0000648
29 abnormality of the metaphyses typical (50%) HP:0000944
30 abnormality of the fingernails typical (50%) HP:0001231
31 seizures typical (50%) HP:0001250
32 hypertonia typical (50%) HP:0001276
33 gait disturbance typical (50%) HP:0001288
34 muscle weakness typical (50%) HP:0001324
35 hyperreflexia typical (50%) HP:0001347
36 neurological speech impairment typical (50%) HP:0002167
37 slow-growing hair typical (50%) HP:0002217
38 incoordination typical (50%) HP:0002311
39 cerebral calcification typical (50%) HP:0002514
40 abnormal cortical bone morphology typical (50%) HP:0003103
41 short nose typical (50%) HP:0003196
42 hemiplegia/hemiparesis typical (50%) HP:0004374
43 craniofacial hyperostosis typical (50%) HP:0004493
44 aplasia/hypoplasia of the cerebellum typical (50%) HP:0007360
45 external ear malformation typical (50%) HP:0008572
46 abnormal hair quantity typical (50%) HP:0011362
47 camptodactyly of finger typical (50%) HP:0100490
48 cognitive impairment typical (50%) HP:0100543
49 epicanthus occasional (7.5%) HP:0000286
50 micrognathia occasional (7.5%) HP:0000347
51 strabismus occasional (7.5%) HP:0000486
52 deeply set eye occasional (7.5%) HP:0000490
53 blepharophimosis occasional (7.5%) HP:0000581
54 upslanted palpebral fissure occasional (7.5%) HP:0000582
55 nystagmus occasional (7.5%) HP:0000639
56 taurodontia occasional (7.5%) HP:0000679
57 abnormality of the clavicle occasional (7.5%) HP:0000889
58 abnormal diaphysis morphology occasional (7.5%) HP:0000940
59 palmoplantar keratoderma occasional (7.5%) HP:0000982
60 brachydactyly syndrome occasional (7.5%) HP:0001156
61 preaxial hand polydactyly occasional (7.5%) HP:0001177
62 umbilical hernia occasional (7.5%) HP:0001537
63 ventricular septal defect occasional (7.5%) HP:0001629
64 hypoglycemia occasional (7.5%) HP:0001943
65 fine hair occasional (7.5%) HP:0002213
66 madelung deformity occasional (7.5%) HP:0003067
67 abnormal form of the vertebral bodies occasional (7.5%) HP:0003312
68 aplasia/hypoplasia of the iris occasional (7.5%) HP:0008053
69 short hallux occasional (7.5%) HP:0010109
70 arrhythmia occasional (7.5%) HP:0011675
71 non-midline cleft lip occasional (7.5%) HP:0100335
72 neurogenic bladder rare (5%) HP:0000011
73 abnormality of the pinna rare (5%) HP:0000377
74 taurodontia rare (5%) HP:0000679
75 atria septal defect rare (5%) HP:0001631
76 arrhythmia rare (5%) HP:0011675
77 neurogenic bladder HP:0000011
78 cleft palate HP:0000175
79 broad alveolar ridges HP:0000187
80 cleft upper lip HP:0000204
81 microcephaly HP:0000252
82 epicanthus HP:0000286
83 conductive hearing impairment HP:0000405
84 underdeveloped nasal alae HP:0000430
85 narrow nasal bridge HP:0000446
86 microcornea HP:0000482
87 glaucoma HP:0000501
88 cataract HP:0000518
89 microphthalmia HP:0000568
90 blepharophimosis HP:0000581
91 carious teeth HP:0000670
92 microdontia HP:0000691
93 intellectual disability HP:0001249
94 seizures HP:0001250
95 ataxia HP:0001251
96 spasticity HP:0001257
97 dysarthria HP:0001260
98 selective tooth agenesis HP:0001592
99 fragile nails HP:0001808
100 basal ganglia calcification HP:0002135
101 fine hair HP:0002213
102 slow-growing hair HP:0002217
103 tetraparesis HP:0002273
104 paraparesis HP:0002385
105 abnormality of the cerebral white matter HP:0002500
106 hip dislocation HP:0002827
107 cubitus valgus HP:0002967
108 short middle phalanx of the 5th finger HP:0004220
109 thin anteverted nares HP:0004495
110 hypoplasia of dental enamel HP:0006297
111 premature loss of teeth HP:0006480
112 hyperactive deep tendon reflexes HP:0006801
113 sparse hair HP:0008070
114 vertebral hyperostosis HP:0008442
115 joint contracture of the 5th finger HP:0009183
116 3-4 toe syndactyly HP:0009779
117 4-5 finger syndactyly HP:0010705
118 dry hair HP:0011359
119 short palpebral fissure HP:0012745
120 clinodactyly HP:0030084

Drugs & Therapeutics for Oculodentodigital Dysplasia

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
VerteporfinPhase 386129497-78-5
Synonyms:
Verteporfin
 
Verteporfina
Verteporfinum
Vertéporfine
2
Aminolevulinic acidPhase 2150106-60-5137
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
3carnitineNutraceutical152

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
3Efficacy, Safety and Pharmacokinetics of Oral LDE225 in Treatment of Patients With Nevoid Basal Cell Carcinoma Syndrome (NBCCS)CompletedNCT01350115Phase 2
4To Determine The Efficacy and Safety of GDC-0449 in Patients With Basal Cell Nevus Syndrome (BCNS)CompletedNCT00957229Phase 2
5Trial Comparing the Effects of Intermittent Vismodegib vs. PDT in Patients With Multiple Basal Cell CarcinomasCompletedNCT01556009Phase 2
6Trial of Patidegib Gel 2%, 4%, and Vehicle to Decrease the Number of Surgically Eligible Basal Cell Carcinomas (BCC) in Gorlin Syndrome PatientsRecruitingNCT02762084Phase 2
7Clinical Trial of Patidegib Gel 2%, 4%, and Vehicle Applied Once or Twice Daily to Decrease the Size of Sporadic Nodular Basal Cell CarcinomasNot yet recruitingNCT02828111Phase 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
10Levocarnitine in Treating Patients With Vismodegib-Associated Muscle SpasmsRecruitingNCT01893892
11Blue vs Red Light During Levulan Based Photodynamic Therapy in Patients With Basal Cell Nevus SyndromeActive, not recruitingNCT02157623

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 Dysplasia25 23 GJA1

Anatomical Context for Oculodentodigital Dysplasia

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MalaCards organs/tissues related to Oculodentodigital Dysplasia:

34
Eye, Skin, Bone, Heart, Cerebellum, Brain, Kidney

Animal Models for Oculodentodigital Dysplasia or affiliated genes

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MGI Mouse Phenotypes related to Oculodentodigital Dysplasia:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107686.6GFER, GJA1, GJA4, GJA5, GJB1, GJB2

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
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

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

68 (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)single nucleotide variantPathogenicrs104893961GRCh37Chr 6, 121768043: 121768043
2GJA1NM_000165.4(GJA1): c.52T> C (p.Ser18Pro)single nucleotide variantPathogenicrs104893962GRCh37Chr 6, 121768045: 121768045
3GJA1NM_000165.4(GJA1): c.61G> A (p.Gly21Arg)single nucleotide variantPathogenicrs104893963GRCh37Chr 6, 121768054: 121768054
4GJA1NM_000165.4(GJA1): c.65G> A (p.Gly22Glu)single nucleotide variantPathogenicrs104893964GRCh37Chr 6, 121768058: 121768058
5GJA1GJA1, 3-BP DUP, 154TTTduplicationPathogenic
6GJA1NM_000165.4(GJA1): c.286G> A (p.Val96Met)single nucleotide variantPathogenicrs28931601GRCh37Chr 6, 121768279: 121768279
7GJA1GJA1, 2-BP DEL, 780T-GdeletionPathogenic
8GJA1NM_000165.4(GJA1): c.581A> C (p.His194Pro)single nucleotide variantPathogenicrs104893966GRCh37Chr 6, 121768574: 121768574
9GJA1NM_000165.4(GJA1): c.32T> C (p.Leu11Pro)single nucleotide variantPathogenicrs121912969GRCh37Chr 6, 121768025: 121768025
10GJA1GJA1, 2-BP DEL, 679ATdeletionPathogenic
11GJA1NM_000165.4(GJA1): c.226C> A (p.Arg76Ser)single nucleotide variantLikely pathogenic, Pathogenicrs267606845GRCh37Chr 6, 121768219: 121768219
12GJA1GJA1, 12-BP DEL, NT120deletionPathogenic
13GJA1NM_000165.4(GJA1): c.31C> T (p.Leu11Phe)single nucleotide variantPathogenicrs387906616GRCh37Chr 6, 121768024: 121768024
14GJA1NM_000165.4(GJA1): c.617A> G (p.Lys206Arg)single nucleotide variantPathogenicrs397518464GRCh37Chr 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
1lateral plasma membraneGO:00163289.8GJA1, GJB2
2intercalated discGO:00147049.5GJA1, GJA5
3connexin complexGO:00059227.1GJA1, GJA4, GJA5, GJB1, GJB2, GJB3
4gap junctionGO:00059217.0GJA1, GJA4, GJA5, GJB1, GJB2, GJB3

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

(show all 20)
idNameGO IDScoreTop Affiliating Genes
1atrial ventricular junction remodelingGO:000329410.5GJA1, GJA5
2positive regulation of cell communication by chemical couplingGO:001065210.5GJA1, GJA5
3regulation of atrial cardiac muscle cell membrane depolarizationGO:006037110.4GJA1, GJA5
4cardiac conductionGO:006133710.4GJA1, GJA5
5cell communication by electrical coupling involved in cardiac conductionGO:008606410.4GJA1, GJA5
6regulation of ventricular cardiac muscle cell membrane repolarizationGO:006030710.4GJA1, GJA5
7regulation of ventricular cardiac muscle cell membrane depolarizationGO:006037310.4GJA1, GJA5
8positive regulation of vasodilationGO:004590910.2GJA1, GJA5
9embryonic heart tube developmentGO:003505010.1GJA1, GJA5
10positive regulation of vasoconstrictionGO:004590710.1GJA1, GJA5
11cell communication by electrical couplingGO:001064410.1GJA1, GJA5
12cell communication by chemical couplingGO:001064310.1GJA1, GJA5
13endothelium developmentGO:00031589.7GJA1, GJA4, GJA5
14blood vessel developmentGO:00015689.4GJA4, GJA5
15cell communicationGO:00071549.4GJA1, GJB3, GJB4
16protein oligomerizationGO:00512599.3GJA1, GJA5, GJB1
17gap junction assemblyGO:00162649.3GJA1, GJA5, GJB1, GJB2
18transportGO:00068108.8GJA1, GJA4, GJB1, GJB2
19cell-cell signalingGO:00072678.1GJA1, GJA4, GJB1, GJB2, GJC2
20transmembrane transportGO:00550857.7GJA1, GJA5, GJB1, GJB2, GJB3, 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:008607510.1GJA1, GJA5
2connexin bindingGO:00712539.8GJA1, GJA5
3gap junction channel activityGO:00052437.6GJA1, GJA5, GJB1, GJB2, GJB3, GJC2

Sources for Oculodentodigital Dysplasia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet