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 49 10 11 45 22 23 47 12 51 67 36
Odd Syndrome 10 45 22 23 67
Oculodentoosseous Dysplasia 22 23 51 67
Oculo-Dento-Digital Dysplasia 45 23 67
Oculodentodigital Syndrome 45 23 67
Oddd 45 23 67
Oculodentodigital Dysplasia Syndrome 47 24
 
Oculo-Dento-Digital Syndrome 45 67
Odod 23 67
Osseous-Oculo-Dental Dysplasia 23
Oculo-Dento-Osseous Dysplasia 23
Meyer-Schwickerath Syndrome 51
Oddd Syndrome 51
Odds 67

Characteristics:

Orphanet epidemiological data:

51
oculodentodigital dysplasia:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal

HPO:

61
oculodentodigital dysplasia:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 164200
Disease Ontology10 DOID:0060291
Orphanet51 2710
SNOMED-CT59 31291009, 38215007
ICD10 via Orphanet28 Q87.8
UMLS via Orphanet66 C0812437
MedGen34 C0812437
UMLS65 C0812437

Summaries for Oculodentodigital Dysplasia

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OMIM:49 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 Oligomerization of connexins into connexons. Affiliated tissues include eye, skin and bone, and related mouse phenotype mortality/aging.

Disease Ontology:10 A syndrome characterized by craniofacial, neurologic, limb and ocular abnormalities.

Genetics Home Reference:23 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:45 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:67 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:68 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 53)
idRelated DiseaseScoreTop Affiliating Genes
1oculodentodigital dysplasia, autosomal recessive34.3GFER, GJA1
2erythrokeratodermia variabilis et progressiva26.2GFER, GJA1, GJA4, GJB1, GJB2, GJB3
3syndactyly, type iii25.2GFER, 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 recessive10.6GFER, GJA1
10atrioventricular septal defect 310.6GFER, GJA1
11palmoplantar keratoderma with congenital alopecia10.5GFER, GJA1
12hypoplastic left heart syndrome 110.5GFER, GJA1
13hystrix-like ichthyosis with deafness10.4GJA1, GJB2
14syndactyly10.3
15persistent hyperplastic primary vitreous10.3
16grid2-related spinocerebellar ataxia10.3GJA1, GJC2
17bart-pumphrey syndrome10.2GJB2, LOR
18x-linked charcot-marie-tooth disease type 110.2GJB1, GJB2
19ectodermal dysplasia 2, clouston type10.2GJA1, GJB2, GJB4
20prostate squamous cell carcinoma10.2GJA1, GJA5
21cerebritis10.2
22inappropriate adh syndrome10.1GJB2, LOR
23lethal encephalopathy due to mitochondrial and peroxisomal fission defect10.1GJB3, GJB4
24nonsyndromic hearing loss and deafness, mitochondrial9.9GJB2, GJB3
25deafness, autosomal dominant 3a9.9GJB2, GJB3
26pellagra like syndrome9.9GJA1, GJB1, GJC2
27heart disease9.9
28diarrhea9.9
29keratosis9.9
30congenital heart disease9.9
31dysostosis9.9
32palmoplantar keratosis9.9
33hallermann-streiff syndrome9.9
34paraplegia9.9
35cleft lip9.9
36glioma9.9
37spasticity9.9
38hypotrichosis9.9GJA1, GJB1, GJC2
39metagonimiasis9.9GJB2, GJB3
40nonsyndromic hearing loss and deafness, autosomal dominant9.8GJB2, GJB3
41dhdds-cdg9.8GJB2, GJB3
42acral persistent papular mucinosis9.8GJB2, GJB3
43dihydrolipoamide dehydrogenase deficiency9.7GJB2, GJB3
44self-healing papular mucinosis9.7GJA1, GJB2, GJB3
45kidney cancer, childhood9.7GJB2, GJB3, GJB4
46spastic paraplegia 50, autosomal recessive9.7GJB2, GJB3, GJB4
47pseudoaminopterin syndrome9.7GJB3, GJB4, LOR
48autosomal dominant nonsyndromic deafness9.6GJB2, GJB3
49palmoplantar keratoderma, epidermolytic9.6GJB2, GJB3, LOR
50pulmonary tuberculosis9.6GJB2, 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:

 51 (show all 86)
  • anophthalmos/anophthalmia/microphthalmos/microphthalmia
  • microcornea
  • anomalies of nose and olfaction
  • narrow nasal bridge
  • anteverted nares/nostrils
  • thin/hypoplastic ala nasi
  • thick columella
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • anodontia/oligodontia/hypodontia
  • enamel anomaly
  • multiple caries
  • premature lost of decidious teeth
  • syndactyly of fingers/interdigital palm
  • camptodactyly of some fingers
  • clinodactyly of fifth finger
  • syndactyly of toes
  • autosomal dominant inheritance
  • dense/thickened skull/calvarium/cranial/facial hyperostosis
  • high forehead
  • hypertelorism
  • hypotelorism
  • prognathism/prognathia
  • enlargment of jaw/large jaw
  • anomalies of eyes and vision
  • glaucoma
  • cataract/lens opacification
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • visual loss/blindness/amblyopia
  • hypermetropia
  • myopia
  • short/small nose
  • small/triangular nares/nostrils
  • median cleft lip
  • broad alveolar ridge
  • external ear anomalies
  • conductive deafness/hearing loss
  • camptodactyly of fingers
  • clinodactyly of fingers 1,2,3,4/overlapping fingers
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • slow growth of the hair
  • abnormal hair texture/hair dysplasia
  • nails anomalies
  • abnormal fingernails
  • bladder and ureter anomalies
  • cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia
  • intracranial/cerebral calcifications
  • abnormal gait
  • ataxia/incoordination/trouble of the equilibrium
  • hypertonia/spasticity/rigidity/stiffness
  • hypereflexia
  • hemiplegia/diplegia/hemiparesia/limb palsy
  • seizures/epilepsy/absences/spasms/status epilepticus
  • elocution disorders/dysarthria/dysphonia
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • muscle weakness/flaccidity
  • hyperostosis
  • metaphyseal anomaly
  • cortical anomaly/thick bone cortical layer
  • upslanted palpebral fissures/mongoloid slanting palpebral fissures
  • deepset eyes/enophthalmos
  • micrognathia/retrognathia/micrognathism/retrognathism
  • aniridia/iris hypoplasia
  • strabismus/squint
  • nystagmus
  • blepharophimosis/short palpebral fissures
  • epicanthic folds
  • lateral cleft lip/gingival cleft/paramedian nasal cleft
  • taurodontia
  • hearing loss/hypoacusia/deafness
  • clavicle absent/abnormal
  • abnormal vertebral size/shape
  • umbilical hernia
  • madelung's deformity
  • short hand/brachydactyly
  • upper limb polydactyly/hexadactyly
  • preaxial polydactyly (hand)
  • short big toe
  • palmoplantar hyperkeratosis/keratoderma
  • fine hair
  • brittle hair/distrix/trichorrhexis
  • congenital cardiac anomaly/malformation/cardiopathy
  • ventricular septal defect/interventricular communication
  • cardiac rhythm disorder/arrhythmia
  • hypoglycemia
  • diaphyseal anomaly
  • autosomal recessive inheritance

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 arrhythmia rare (5%) HP:0011675
73 atria septal defect rare (5%) HP:0001631
74 taurodontia rare (5%) HP:0000679
75 abnormality of the pinna rare (5%) HP:0000377
76 neurogenic bladder rare (5%) HP:0000011
77 clinodactyly HP:0030084
78 short palpebral fissure HP:0012745
79 dry hair HP:0011359
80 4-5 finger syndactyly HP:0010705
81 3-4 toe syndactyly HP:0009779
82 joint contracture of the 5th finger HP:0009183
83 vertebral hyperostosis HP:0008442
84 sparse hair HP:0008070
85 hyperactive deep tendon reflexes HP:0006801
86 premature loss of teeth HP:0006480
87 hypoplasia of dental enamel HP:0006297
88 thin anteverted nares HP:0004495
89 short middle phalanx of the 5th finger HP:0004220
90 cubitus valgus HP:0002967
91 hip dislocation HP:0002827
92 abnormality of the cerebral white matter HP:0002500
93 paraparesis HP:0002385
94 tetraparesis HP:0002273
95 slow-growing hair HP:0002217
96 fine hair HP:0002213
97 basal ganglia calcification HP:0002135
98 fragile nails HP:0001808
99 selective tooth agenesis HP:0001592
100 dysarthria HP:0001260
101 spasticity HP:0001257
102 ataxia HP:0001251
103 seizures HP:0001250
104 intellectual disability HP:0001249
105 microdontia HP:0000691
106 carious teeth HP:0000670
107 blepharophimosis HP:0000581
108 microphthalmia HP:0000568
109 cataract HP:0000518
110 glaucoma HP:0000501
111 microcornea HP:0000482
112 narrow nasal bridge HP:0000446
113 underdeveloped nasal alae HP:0000430
114 conductive hearing impairment HP:0000405
115 epicanthus HP:0000286
116 microcephaly HP:0000252
117 cleft upper lip HP:0000204
118 broad alveolar ridges HP:0000187
119 cleft palate HP:0000175
120 neurogenic bladder HP:0000011

Drugs & Therapeutics for Oculodentodigital Dysplasia

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

(show all 7)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Verteporfinapproved, investigationalPhase 383129497-78-55362420
Synonyms:
Verteporfin
Verteporfina
 
Verteporfinum
Vertéporfine
Visudyne
2Dermatologic AgentsPhase 3, Phase 24555
3Photosensitizing AgentsPhase 3, Phase 2374
4
Aminolevulinic acidapprovedPhase 2142106-60-5137
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-Aminolevulinate hydrochloride
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
Levulan Kerastick
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 27004
6Contraceptives, OralPhase 23734
7carnitineNutraceutical146

Interventional clinical trials:

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 (SEB) in Gorlin Syndrome PatientsRecruitingNCT02762084Phase 2
7A Clinical Trial of Dermacorder for Detecting Malignant Skin LesionsCompletedNCT01014819
8An Observational Study of the Effectiveness and Safety of Erivedge® in Patients With Advanced Basal Cell CarcinomaRecruitingNCT02371967
9Levocarnitine in Treating Patients With Vismodegib-Associated Muscle SpasmsRecruitingNCT01893892
10Blue vs Red Light During Levulan Based Photodynamic Therapy in Patients With Basal Cell Nevus SyndromeNot yet 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 Dysplasia22 GJA1

Anatomical Context for Oculodentodigital Dysplasia

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MalaCards organs/tissues related to Oculodentodigital Dysplasia:

33
Eye, Skin, Bone, Cerebellum, Breast, Heart, Kidney

Animal Models for Oculodentodigital Dysplasia or affiliated genes

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MGI Mouse Phenotypes related to Oculodentodigital Dysplasia:

38
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 88)
idTitleAuthorsYear
1
Case report: imaging and treatment of ophthalmic manifestations in oculodentodigital dysplasia. (26743931)
2016
2
Oculodentodigital dysplasia. (27146935)
2016
3
Oculodentodigital Dysplasia with Massive Brain Calcification and a New Mutation of GJA1 Gene. (26444782)
2015
4
Missense and deletion mutations in GJA1 causing oculodentodigital dysplasia in two Indian families. (26087145)
2015
5
Japanese case of oculodentodigital dysplasia caused by a mutation in the GJA1 gene. (25327171)
2014
6
Clinical manifestations of oculodentodigital dysplasia. (25231047)
2014
7
Palmoplantar keratosis in oculodentodigital dysplasia with a GJA1 point mutation out of the C-terminal region of connexin 43. (25388818)
2014
8
Cerebral ischemic injury is enhanced in a model of oculodentodigital dysplasia. (23727526)
2013
9
Congenital heart defects in oculodentodigital dysplasia: Report of two cases. (24115525)
2013
10
Neurological manifestations of oculodentodigital dysplasia: a Cx43 channelopathy of the central nervous system? (24133447)
2013
11
Autosomal recessive GJA1 (Cx43) gene mutations cause oculodentodigital dysplasia by distinct mechanisms. (23606748)
2013
12
Characterization of gap junction proteins in the bladder of Cx43 mutant mouse models of oculodentodigital dysplasia. (22752022)
2012
13
A novel GJA1 mutation in oculodentodigital dysplasia with progressive spastic paraplegia and sensory deficits. (22214631)
2012
14
Human dermal fibroblasts derived from oculodentodigital dysplasia patients suggest that patients may have wound-healing defects. (21305658)
2011
15
Male reproductive system defects and subfertility in a mutant mouse model of oculodentodigital dysplasia. (22004529)
2011
16
The G60S connexin43 mutant regulates hair growth and hair fiber morphology in a mouse model of human oculodentodigital dysplasia. (21716323)
2011
17
A severe progressive oculodentodigital dysplasia due to compound heterozygous GJA1 mutation. (20597923)
2010
18
Dental management of oculodentodigital dysplasia: a case report. (20587963)
2010
19
A novel GJA1 missense mutation in a Polish child with oculodentodigital dysplasia. (19638688)
2009
20
Oogenesis defects in a mutant mouse model of oculodentodigital dysplasia. (19259389)
2009
21
A case of oculodentodigital dysplasia syndrome with novel GJA1 gene mutation. (19847613)
2009
22
GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype. (19338053)
2009
23
Decreased levels of connexin43 result in impaired development of the mammary gland in a mouse model of oculodentodigital dysplasia. (18455714)
2008
24
Report of a black South African child with oculodentodigital dysplasia and a novel GJA1 gene mutation. (18412120)
2008
25
Some oculodentodigital dysplasia-associated Cx43 mutations cause increased hemichannel activity in addition to deficient gap junction channels. (17687502)
2007
26
A new GJA1 (connexin 43) mutation causing oculodentodigital dysplasia associated to uncommon features. (18161618)
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
Oculodentodigital dysplasia connexin43 mutations result in non-functional connexin hemichannels and gap junctions in C6 glioma cells. (16418219)
2006
30
Functional characterization of oculodentodigital dysplasia-associated Cx43 mutants. (16531323)
2005
31
Functional characterization of connexin43 mutations found in patients with oculodentodigital dysplasia. (15879313)
2005
32
A Gja1 missense mutation in a mouse model of oculodentodigital dysplasia. (16155213)
2005
33
Gene symbol: GJA1. Disease: oculodentodigital dysplasia. (15818811)
2005
34
Letter to the editor: Novel GJA1 mutation in oculodentodigital dysplasia. (16222672)
2005
35
Oculodentodigital dysplasia: study of ophthalmological and clinical manifestations in three boys with probably autosomal recessive inheritance. (15512999)
2004
36
Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia. (12457340)
2003
37
Linkage analysis narrows the critical region for oculodentodigital dysplasia to chromosome 6q22-q23. (10331943)
1999
38
Type III syndactyly and oculodentodigital dysplasia: a clinical spectrum. (8110413)
1993
39
Oculodentodigital dysplasia syndrome associated with abnormal cerebral white matter. (1659191)
1991
40
Hallermann-Streiff syndrome: clinical and psychological findings in children. Nosologic overlap with oculodentodigital dysplasia? (1663704)
1991
41
Oculodentodigital dysplasia and type III syndactyly: separate genetic entities or disease spectrum? (2157843)
1990
42
Dental management of oculodentodigital dysplasia: report of case. (2937820)
1986
43
Oculodentodigital dysplasia. (3458155)
1986
44
Oculodentodigital dysplasia. (74156)
1977
45
Oculodentodigital dysplasia. (406906)
1977
46
Intraoral findings of oculodentodigital dysplasia. (824333)
1976
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:

67 (show all 42)
id Symbol AA change Variation ID SNP ID
1GJA1p.Tyr17SerVAR_015747
2GJA1p.Ser18ProVAR_015748
3GJA1p.Gly21ArgVAR_015749
4GJA1p.Gly22GluVAR_015750
5GJA1p.Lys23ThrVAR_015751
6GJA1p.Ala40ValVAR_015752
7GJA1p.Gln49LysVAR_015753
8GJA1p.Arg76SerVAR_015755
9GJA1p.Leu90ValVAR_015756
10GJA1p.Tyr98CysVAR_015757
11GJA1p.Lys102AsnVAR_015758
12GJA1p.Ile130ThrVAR_015759
13GJA1p.Lys134GluVAR_015760
14GJA1p.Gly138ArgVAR_015761
15GJA1p.Arg202HisVAR_015762
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_058992
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_059008
37GJA1p.Ser201PheVAR_059009
38GJA1p.Ser220TyrVAR_059010
39GJA1p.Lys206ArgVAR_070440
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
1connexon complexGO:00059229.5GJA4, GJB4

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of cell communication by chemical couplingGO:001065210.5GJA1, GJA5
2atrial ventricular junction remodelingGO:000329410.5GJA1, GJA5
3regulation of ventricular cardiac muscle cell membrane repolarizationGO:006030710.4GJA1, GJA5
4gap junction assemblyGO:001626410.4GJA1, GJA5
5embryonic heart tube developmentGO:003505010.3GJA1, GJA5
6positive regulation of vasoconstrictionGO:004590710.2GJA1, GJA5
7cardiac conductionGO:006133710.2GJA1, GJA5
8endothelium developmentGO:00031589.8GJA1, GJA4, GJA5
9cell communicationGO:00071549.4GJA5, GJB2, GJB4, GJC2
10sensory perception of soundGO:00076059.2GJB2, GJB3
11membrane organizationGO:00610249.1GJA1, GJB1, GJB2
12transmembrane transportGO:00550858.7GJA1, GJA5, GJB1, GJB3
13transportGO:00068108.3GJA1, GJA4, GJB1, GJB2

Sources for Oculodentodigital Dysplasia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet