MCID: OCL013
MIFTS: 57

Oculodentodigital Dysplasia

Categories: Genetic diseases, Rare diseases, Eye diseases, Bone diseases, Skin diseases, Fetal diseases, Oral diseases

Aliases & Classifications for Oculodentodigital Dysplasia

MalaCards integrated aliases for Oculodentodigital Dysplasia:

Name: Oculodentodigital Dysplasia 54 12 50 24 25 56 71 29 13 52 42 14
Odd Syndrome 12 50 24 25 71
Oculodentoosseous Dysplasia 24 25 56 71
Oculo-Dento-Digital Dysplasia 50 25 71
Oculodentodigital Syndrome 50 25 71
Oddd 50 25 71
Oculo-Dento-Digital Syndrome 50 71
Odod 25 71
Oculodentodigital Dysplasia Syndrome 52
Osseous-Oculo-Dental Dysplasia 25
Oculo-Dento-Osseous Dysplasia 25
Meyer-Schwickerath Syndrome 56
Oddd Syndrome 56
Odds 71

Characteristics:

Orphanet epidemiological data:

56
oculodentodigital dysplasia
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype
cardiac features are observed in ~3% of cases
neurologic features have been diagnosed in ~30% of cases
50% of cases represent new mutations associated with advanced paternal age


HPO:

32
oculodentodigital dysplasia:
Onset and clinical course phenotypic variability
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Oculodentodigital Dysplasia

OMIM : 54
Oculodentodigital syndrome is 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 (summary by Judisch et al., 1979). Neurologic abnormalities are sometimes associated (Gutmann et al., 1991), and lymphedema has been reported in some patients with ODDD (Brice et al., 2013). See review by De Bock et al. (2013). (164200)

MalaCards based summary : Oculodentodigital Dysplasia, also known as odd syndrome, is related to syndactyly, type iii and oculodentodigital dysplasia, autosomal recessive, and has symptoms including visual impairment, optic atrophy and nystagmus. An important gene associated with Oculodentodigital Dysplasia is GJA1 (Gap Junction Protein Alpha 1), and among its related pathways/superpathways are Vesicle-mediated transport and Development Slit-Robo signaling. Affiliated tissues include eye, skin and testes, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and reproductive system

NIH Rare Diseases : 50 oculodentodigital dysplasia is a condition that affects many parts of the body, including the eyes (oculo-), teeth (dento-), and fingers (digital). symptoms of the condition include having small eyes, vision loss, missing teeth, frequent cavities, and bony growths in the fingers. the condition is caused by a mutation in gja1 and is most typically inherited in an autosomal dominant manner. oculodentodigital dysplasia can be diagnosed by a clinical examination and confirmed with genetic testing. management is based on treating the specific symptoms that each affected person exhibits. early diagnosis can help ensure that the best treatment is available and that steps can be taken to prevent more symptoms from developing.  last updated: 2/19/2017

UniProtKB/Swiss-Prot : 71 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.

Disease Ontology : 12 A syndrome characterized by craniofacial, neurologic, limb and ocular abnormalities.

Wikipedia : 72 Oculodentodigital syndrome (ODD syndrome) is an extremely rare genetic condition that typically results... more...

Related Diseases for Oculodentodigital Dysplasia

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 46)
id Related Disease Score Top Affiliating Genes
1 syndactyly, type iii 27.6 GJA1 GJA4 GJA5 GJB2 GJB4 GJC2
2 oculodentodigital dysplasia, autosomal recessive 12.2
3 oculodentoosseous dysplasia recessive 11.9
4 oculodentodigital dysplasia dominant 11.9
5 oppositional defiant disorder 11.2
6 fraser syndrome 1 11.2
7 scalp-ear-nipple syndrome 11.0
8 ego-dystonic sexual orientation 10.9
9 optic disk drusen 10.9
10 pseudopapilledema 10.9
11 schizotypal personality disorder 10.9
12 hystrix-like ichthyosis with deafness 10.2 GJA1 GJB2
13 transient neonatal multiple acyl-coa dehydrogenase deficiency 10.2 GJB2 GJB4
14 kikuchi disease 10.2 GJB2 GJB4
15 persistent hyperplastic primary vitreous 10.1
16 tricuspid valve disease 10.1 GJA1 GJA5
17 third-degree atrioventricular block 10.1 GJA4 GJA5
18 spastic paraplegia 50, autosomal recessive 10.1 GJB2 GJB4
19 cerebritis 10.0
20 spasticity 9.9
21 prostate malignant phyllodes tumor 9.9 GJA1 GJA5
22 keratoderma, palmoplantar, with deafness 9.9 GJB2 LOR
23 pemphigoid gestationis 9.9 GJA1 GJC2
24 troyer syndrome 9.9 GJA1 GJB2 GJB4
25 dementia, familial british 9.8 GJA1 GJB2 GJB4
26 cerebellar ataxia, mental retardation and dysequlibrium syndrome 9.8 GJA1 GJC2
27 richter's syndrome 9.8 GJB4 LOR
28 keratosis 9.8
29 dysostosis 9.8
30 palmoplantar keratosis 9.8
31 paraplegia 9.8
32 cleft lip 9.8
33 hallermann-streiff syndrome 9.8
34 glioma 9.8
35 dilated cardiomyopathy 9.8
36 spastic paraparesis 9.8
37 cardiomyopathy 9.8
38 heart disease 9.8
39 diarrhea 9.8
40 hallux varus and preaxial polysyndactyly 9.7 GJA1 GJC2
41 carotid artery disease 9.7 GJB2 LOR
42 discrete papular lichen myxedematosus 9.7 GJA1 GJB2
43 lemierre's syndrome 9.7 GJA1 GJB2 LOR
44 pseudocholinesterase deficiency 9.3 GJA1 GJB2 GJB4 LOR
45 small non-cleaved cell lymphoma 9.2 GJA1 GJB2 GJB4 LOR
46 erythrokeratodermia variabilis et progressiva 1 8.7 GJA1 GJA4 GJB2 GJB4 LOR

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



Diseases related to Oculodentodigital Dysplasia

Symptoms & Phenotypes for Oculodentodigital Dysplasia

Symptoms via clinical synopsis from OMIM:

54

Neurologic- Central Nervous System:
dysarthria
ataxia
spasticity
seizures
neurogenic bladder
more
Head And Neck- Eyes:
epicanthal folds
short palpebral fissures
microphthalmia
glaucoma
microcornea
more
Skeletal- Pelvis:
hip dislocation

Head And Neck- Ears:
hearing loss, conductive
dysplastic ears (in some patients)

Cardiovascular- Heart:
atrial septal defect (uncommon)
endocardial cushion defects (uncommon)
ventral septal defect (uncommon)
cardiac conduction defects (uncommon)

Head And Neck- Nose:
small nares
thin hypoplastic alae nasi
narrow nasal bridge
thin anteverted nares
prominent columnella

Genitourinary- Bladder:
neurogenic bladder (in some patients)

Skeletal- Spine:
vertebral hyperostosis

Skin Nails & Hair- Skin:
diffuse yellow-orange non-epidermolytic hyperkeratosis on palms and soles (palmoplantar keratoderma)

Skin Nails & Hair- Hair:
fine, dry hair
sparse, slow-growing hair

Head And Neck- Head:
microcephaly

Head And Neck- Mouth:
cleft palate
cleft lip
broad alveolar ridges

Skeletal- Hands:
clinodactyly
fifth finger camptodactyly
syndactyly of 4th - 5th fingers
short middle phalanx of the 5th finger
midphalangeal hypoplasia

Head And Neck- Teeth:
enamel hypoplasia
dental caries
taurodontism (reported in 1 patient)
microdontia
selective tooth agenesis
more
Skeletal- Limbs:
cubitus valgus
broad tubular bones

Abdomen- Gastroin testinal:
bowel dysfunction (in some cases)

Skeletal- Skull:
skull hyperostosis

Skeletal- Feet:
syndactyly of 3rd - 4th toes

Skin Nails & Hair- Nails:
brittle nails

Muscle Soft Tissue:
lymphedema of lower limbs (in some patients)


Clinical features from OMIM:

164200

Human phenotypes related to Oculodentodigital Dysplasia:

56 32 (show top 50) (show all 112)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 visual impairment 56 32 frequent (33%) Frequent (79-30%) HP:0000505
2 optic atrophy 56 32 frequent (33%) Frequent (79-30%) HP:0000648
3 nystagmus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000639
4 dysarthria 56 32 frequent (33%) Frequent (79-30%) HP:0001260
5 ataxia 56 32 frequent (33%) Frequent (79-30%) HP:0001251
6 palmoplantar keratoderma 56 32 occasional (7.5%) Occasional (29-5%) HP:0000982
7 strabismus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000486
8 umbilical hernia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001537
9 myopia 56 32 frequent (33%) Frequent (79-30%) HP:0000545
10 hyperreflexia 56 32 frequent (33%) Frequent (79-30%) HP:0001347
11 spasticity 56 32 Frequent (79-30%) HP:0001257
12 seizures 56 32 frequent (33%) Frequent (79-30%) HP:0001250
13 high forehead 56 32 frequent (33%) Frequent (79-30%) HP:0000348
14 micrognathia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000347
15 hypertelorism 56 32 frequent (33%) Frequent (79-30%) HP:0000316
16 brittle hair 56 32 occasional (7.5%) Occasional (29-5%) HP:0002299
17 cleft palate 56 32 hallmark (90%) Very frequent (99-80%) HP:0000175
18 glaucoma 56 32 frequent (33%) Frequent (79-30%) HP:0000501
19 short nose 56 32 frequent (33%) Frequent (79-30%) HP:0003196
20 muscle weakness 56 32 frequent (33%) Frequent (79-30%) HP:0001324
21 microcornea 56 32 hallmark (90%) Very frequent (99-80%) HP:0000482
22 intellectual disability 56 32 occasional (7.5%) Occasional (29-5%) HP:0001249
23 hypoglycemia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001943
24 cataract 56 32 frequent (33%) Frequent (79-30%) HP:0000518
25 ventricular septal defect 56 32 occasional (7.5%) Occasional (29-5%) HP:0001629
26 median cleft lip 56 32 frequent (33%) Frequent (79-30%) HP:0000161
27 clinodactyly 56 32 Frequent (79-30%) HP:0030084
28 curly hair 56 32 frequent (33%) Frequent (79-30%) HP:0002212
29 neurogenic bladder 56 32 occasional (7.5%) Frequent (79-30%) HP:0000011
30 finger syndactyly 56 32 hallmark (90%) Very frequent (99-80%) HP:0006101
31 toe syndactyly 56 32 hallmark (90%) Very frequent (99-80%) HP:0001770
32 spastic paraparesis 56 32 frequent (33%) Frequent (79-30%) HP:0002313
33 arrhythmia 56 32 occasional (7.5%) Occasional (29-5%) HP:0011675
34 hypotelorism 56 32 frequent (33%) Frequent (79-30%) HP:0000601
35 epicanthus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000286
36 fine hair 56 32 occasional (7.5%) Occasional (29-5%) HP:0002213
37 slow-growing hair 56 32 frequent (33%) Frequent (79-30%) HP:0002217
38 hypotrichosis 56 32 frequent (33%) Frequent (79-30%) HP:0001006
39 short hallux 56 32 occasional (7.5%) Occasional (29-5%) HP:0010109
40 gait disturbance 56 32 frequent (33%) Frequent (79-30%) HP:0001288
41 narrow nasal bridge 56 32 hallmark (90%) Very frequent (99-80%) HP:0000446
42 thin anteverted nares 56 32 frequent (33%) Frequent (79-30%) HP:0004495
43 broad alveolar ridges 56 32 frequent (33%) Frequent (79-30%) HP:0000187
44 cerebral calcification 56 32 frequent (33%) Frequent (79-30%) HP:0002514
45 cranial hyperostosis 56 32 frequent (33%) Frequent (79-30%) HP:0004437
46 carious teeth 56 32 hallmark (90%) Very frequent (99-80%) HP:0000670
47 premature loss of primary teeth 56 32 hallmark (90%) Very frequent (99-80%) HP:0006323
48 mild global developmental delay 56 32 frequent (33%) Frequent (79-30%) HP:0011342
49 madelung deformity 56 32 occasional (7.5%) Occasional (29-5%) HP:0003067
50 broad columella 56 32 hallmark (90%) Very frequent (99-80%) HP:0010761

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.23 GJA5
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 9.23 GJA4
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-200 9.23 GJA5
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-211 9.23 GJA5
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-61 9.23 GJA5
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-62 9.23 GJA4 GJA5
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-89 9.23 GJA4
8 Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance GR00210-A 9.13 GJA1 GJA5 GJB2

MGI Mouse Phenotypes related to Oculodentodigital Dysplasia:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 reproductive system MP:0005389 9.02 GJA1 GJA4 GJA5 GJB2 GJB4

Drugs & Therapeutics for Oculodentodigital Dysplasia

Search Clinical Trials , NIH Clinical Center for Oculodentodigital Dysplasia

Cochrane evidence based reviews: oculodentodigital dysplasia

Genetic Tests for Oculodentodigital Dysplasia

Genetic tests related to Oculodentodigital Dysplasia:

id Genetic test Affiliating Genes
1 Oculodentodigital Dysplasia 29 24 GJA1

Anatomical Context for Oculodentodigital Dysplasia

MalaCards organs/tissues related to Oculodentodigital Dysplasia:

39
Eye, Skin, Testes, Bone, Heart, Cerebellum, Brain

Publications for Oculodentodigital Dysplasia

Articles related to Oculodentodigital Dysplasia:

(show top 50) (show all 92)
id Title Authors Year
1
A novel GJA1 mutation in oculodentodigital dysplasia with extensive loss of enamel. ( 28258662 )
2017
2
Oculodentodigital Dysplasia Presenting as Spastic Paraparesis: The First Genetically Confirmed Korean Case and a Literature Review. ( 28950687 )
2017
3
A novel GJA1 mutation causing familial oculodentodigital dysplasia with dilated cardiomyopathy and arrhythmia. ( 28491627 )
2016
4
Case report: imaging and treatment of ophthalmic manifestations in oculodentodigital dysplasia. ( 26743931 )
2016
5
Oculodentodigital dysplasia. ( 27146935 )
2016
6
Specific functional pathologies of Cx43 mutations associated with oculodentodigital dysplasia. ( 27226478 )
2016
7
Missense and deletion mutations in GJA1 causing oculodentodigital dysplasia in two Indian families. ( 26087145 )
2015
8
Oculodentodigital Dysplasia with Massive Brain Calcification and a New Mutation of GJA1 Gene. ( 26444782 )
2015
9
Manipulating Cx43 expression triggers gene reprogramming events in dermal fibroblasts from oculodentodigital dysplasia patients. ( 26349540 )
2015
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
Japanese case of oculodentodigital dysplasia caused by a mutation in the GJA1 gene. ( 25327171 )
2014
13
Palmoplantar keratosis in oculodentodigital dysplasia with a GJA1 point mutation out of the C-terminal region of connexin 43. ( 25388818 )
2014
14
Clinical manifestations of oculodentodigital dysplasia. ( 25231047 )
2014
15
Maxillo-facial radiology case 118. Oculodentodigital dysplasia. ( 24974522 )
2014
16
Cerebral ischemic injury is enhanced in a model of oculodentodigital dysplasia. ( 23727526 )
2013
17
Neurological manifestations of oculodentodigital dysplasia: a Cx43 channelopathy of the central nervous system? ( 24133447 )
2013
18
Congenital heart defects in oculodentodigital dysplasia: Report of two cases. ( 24115525 )
2013
19
Autosomal recessive GJA1 (Cx43) gene mutations cause oculodentodigital dysplasia by distinct mechanisms. ( 23606748 )
2013
20
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
21
Structure and functional studies of N-terminal Cx43 mutants linked to oculodentodigital dysplasia. ( 22809623 )
2012
22
A novel GJA1 mutation in oculodentodigital dysplasia with progressive spastic paraplegia and sensory deficits. ( 22214631 )
2012
23
Teaching neuroimages: oculodentodigital dysplasia: hypomyelination and syndactyly. ( 23071171 )
2012
24
Cleft lip in oculodentodigital dysplasia suggests novel roles for connexin43. ( 22699666 )
2012
25
Characterization of gap junction proteins in the bladder of Cx43 mutant mouse models of oculodentodigital dysplasia. ( 22752022 )
2012
26
Oculodentodigital dysplasia: new ocular findings and a novel connexin 43 mutation. ( 21670345 )
2011
27
The G60S connexin43 mutant regulates hair growth and hair fiber morphology in a mouse model of human oculodentodigital dysplasia. ( 21716323 )
2011
28
Oculodentodigital dysplasia: ulnar-sided syndactyly and its associated disorders. ( 22036282 )
2011
29
Human dermal fibroblasts derived from oculodentodigital dysplasia patients suggest that patients may have wound-healing defects. ( 21305658 )
2011
30
Ocular pathology relevant to glaucoma in a Gja1(Jrt/+) mouse model of human oculodentodigital dysplasia. ( 21273537 )
2011
31
Atrial tachycardia/fibrillation in the connexin 43 G60S mutant (Oculodentodigital dysplasia) mouse. ( 21239638 )
2011
32
Male reproductive system defects and subfertility in a mutant mouse model of oculodentodigital dysplasia. ( 22004529 )
2011
33
Dental management of oculodentodigital dysplasia: a case report. ( 20587963 )
2010
34
A severe progressive oculodentodigital dysplasia due to compound heterozygous GJA1 mutation. ( 20597923 )
2010
35
A novel GJA1 missense mutation in a Polish child with oculodentodigital dysplasia. ( 19638688 )
2009
36
Oogenesis defects in a mutant mouse model of oculodentodigital dysplasia. ( 19259389 )
2009
37
GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype. ( 19338053 )
2009
38
Oculodentodigital dysplasia: disease spectrum in an eight-year-old boy, his parents and a sibling. ( 19725242 )
2009
39
A case of oculodentodigital dysplasia syndrome with novel GJA1 gene mutation. ( 19847613 )
2009
40
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
41
Ocular manifestations in oculodentodigital dysplasia resulting from a heterozygous missense mutation (L113P) in GJA1 (connexin 43). ( 18425059 )
2009
42
Expanding the neurologic phenotype of oculodentodigital dysplasia in a 4-generation Hispanic family. ( 18660473 )
2008
43
Report of a black South African child with oculodentodigital dysplasia and a novel GJA1 gene mutation. ( 18412120 )
2008
44
Decreased levels of connexin43 result in impaired development of the mammary gland in a mouse model of oculodentodigital dysplasia. ( 18455714 )
2008
45
Variable expression of neurological phenotype in autosomal recessive oculodentodigital dysplasia of two sibs and review of the literature. ( 17476528 )
2008
46
The conditional connexin43G138R mouse mutant represents a new model of hereditary oculodentodigital dysplasia in humans. ( 18003637 )
2008
47
Oculodentodigital dysplasia with mandibular retrognathism and absence of syndactyly: a case report with a novel mutation in the connexin 43 gene. ( 17509830 )
2007
48
Differential potency of dominant negative connexin43 mutants in oculodentodigital dysplasia. ( 17420259 )
2007
49
Gap junction remodeling and cardiac arrhythmogenesis in a murine model of oculodentodigital dysplasia. ( 18077386 )
2007
50
A new GJA1 (connexin 43) mutation causing oculodentodigital dysplasia associated to uncommon features. ( 18161618 )
2007

Variations for Oculodentodigital Dysplasia

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

71 (show all 43)
id Symbol AA change Variation ID SNP ID
1 GJA1 p.Tyr17Ser VAR_015747 rs104893961
2 GJA1 p.Ser18Pro VAR_015748 rs104893962
3 GJA1 p.Gly21Arg VAR_015749 rs104893963
4 GJA1 p.Gly22Glu VAR_015750 rs104893964
5 GJA1 p.Lys23Thr VAR_015751
6 GJA1 p.Ala40Val VAR_015752
7 GJA1 p.Gln49Lys VAR_015753
8 GJA1 p.Arg76Ser VAR_015755 rs267606845
9 GJA1 p.Leu90Val VAR_015756
10 GJA1 p.Tyr98Cys VAR_015757
11 GJA1 p.Lys102Asn VAR_015758
12 GJA1 p.Ile130Thr VAR_015759
13 GJA1 p.Lys134Glu VAR_015760
14 GJA1 p.Gly138Arg VAR_015761
15 GJA1 p.Arg202His VAR_015762 rs750294638
16 GJA1 p.Val216Leu VAR_015763
17 GJA1 p.Ser27Pro VAR_038356
18 GJA1 p.Ile31Met VAR_038357
19 GJA1 p.Ser69Tyr VAR_038358
20 GJA1 p.Leu113Pro VAR_038359
21 GJA1 p.Lys134Asn VAR_038360
22 GJA1 p.Gly2Val VAR_058990
23 GJA1 p.Leu7Val VAR_058991
24 GJA1 p.Leu11Pro VAR_058992 rs121912969
25 GJA1 p.Gln49Pro VAR_058994
26 GJA1 p.Pro59His VAR_058996
27 GJA1 p.His95Arg VAR_058998
28 GJA1 p.Val96Ala VAR_058999
29 GJA1 p.Val96Glu VAR_059000
30 GJA1 p.Val96Met VAR_059001 rs28931601
31 GJA1 p.Leu106Pro VAR_059002
32 GJA1 p.Glu110Asp VAR_059003
33 GJA1 p.Met147Thr VAR_059004
34 GJA1 p.Thr154Ala VAR_059005
35 GJA1 p.Thr154Asn VAR_059006
36 GJA1 p.His194Pro VAR_059008 rs104893966
37 GJA1 p.Ser201Phe VAR_059009
38 GJA1 p.Ser220Tyr VAR_059010
39 GJA1 p.Lys206Arg VAR_070440 rs397518464
40 GJA1 p.Asp47His VAR_071009
41 GJA1 p.Ser86Tyr VAR_071010
42 GJA1 p.Leu106Arg VAR_071011
43 GJA1 p.Leu11Ile VAR_078238

ClinVar genetic disease variations for Oculodentodigital Dysplasia:

6 (show all 17)
id Gene Variation Type Significance SNP ID Assembly Location
1 GJA1 NM_000165.4(GJA1): c.50A> C (p.Tyr17Ser) single nucleotide variant Pathogenic rs104893961 GRCh37 Chromosome 6, 121768043: 121768043
2 GJA1 NM_000165.4(GJA1): c.52T> C (p.Ser18Pro) single nucleotide variant Pathogenic rs104893962 GRCh37 Chromosome 6, 121768045: 121768045
3 GJA1 NM_000165.4(GJA1): c.61G> A (p.Gly21Arg) single nucleotide variant Pathogenic rs104893963 GRCh37 Chromosome 6, 121768054: 121768054
4 GJA1 NM_000165.4(GJA1): c.65G> A (p.Gly22Glu) single nucleotide variant Pathogenic rs104893964 GRCh37 Chromosome 6, 121768058: 121768058
5 GJA1 GJA1, 3-BP DUP, 154TTT duplication Pathogenic
6 GJA1 NM_000165.4(GJA1): c.286G> A (p.Val96Met) single nucleotide variant Pathogenic rs28931601 GRCh37 Chromosome 6, 121768279: 121768279
7 GJA1 GJA1, 2-BP DEL, 780T-G deletion Pathogenic
8 GJA1 NM_000165.4(GJA1): c.581A> C (p.His194Pro) single nucleotide variant Pathogenic rs104893966 GRCh37 Chromosome 6, 121768574: 121768574
9 GJA1 NM_000165.4(GJA1): c.32T> C (p.Leu11Pro) single nucleotide variant Pathogenic rs121912969 GRCh37 Chromosome 6, 121768025: 121768025
10 GJA1 GJA1, 2-BP DEL, 679AT deletion Pathogenic
11 GJA1 NM_000165.4(GJA1): c.226C> A (p.Arg76Ser) single nucleotide variant Pathogenic/Likely pathogenic rs267606845 GRCh37 Chromosome 6, 121768219: 121768219
12 GJA1 GJA1, 12-BP DEL, NT120 deletion Pathogenic
13 GJA1 NM_000165.4(GJA1): c.31C> T (p.Leu11Phe) single nucleotide variant Pathogenic rs387906616 GRCh37 Chromosome 6, 121768024: 121768024
14 GJA1 NM_000165.4(GJA1): c.617A> G (p.Lys206Arg) single nucleotide variant Pathogenic rs397518464 GRCh37 Chromosome 6, 121768610: 121768610
15 GJA1 NM_000165.4(GJA1): c.119C> T (p.Ala40Val) single nucleotide variant Pathogenic GRCh37 Chromosome 6, 121768112: 121768112
16 GJA1 NM_000165.4(GJA1): c.443G> A (p.Arg148Gln) single nucleotide variant Likely pathogenic rs962041031 GRCh37 Chromosome 6, 121768436: 121768436
17 GJA1 NM_000165.4(GJA1): c.646G> T (p.Val216Leu) single nucleotide variant Pathogenic GRCh38 Chromosome 6, 121447493: 121447493

Expression for Oculodentodigital Dysplasia

Search GEO for disease gene expression data for Oculodentodigital Dysplasia.

Pathways for Oculodentodigital Dysplasia

GO Terms for Oculodentodigital Dysplasia

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

id Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.8 GJA1 GJA4 GJA5 GJB2 GJB4 GJC2
2 cell junction GO:0030054 9.63 GJA1 GJA4 GJA5 GJB2 GJB4 GJC2
3 gap junction GO:0005921 9.43 GJA1 GJA4 GJA5 GJB2 GJB4 GJC2
4 intercalated disc GO:0014704 9.26 GJA1 GJA5
5 connexin complex GO:0005922 9.1 GJA1 GJA4 GJA5 GJB2 GJB4 GJC2

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

(show all 14)
id Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.73 GJA1 GJA5 GJB2 GJC2
2 cell-cell signaling GO:0007267 9.67 GJA1 GJA4 GJB2 GJC2
3 protein oligomerization GO:0051259 9.54 GJA1 GJA5
4 blood vessel development GO:0001568 9.52 GJA4 GJA5
5 response to retinoic acid GO:0032526 9.51 GJA1 GJB2
6 response to ischemia GO:0002931 9.49 GJA1 GJB2
7 positive regulation of vasoconstriction GO:0045907 9.48 GJA1 GJA5
8 decidualization GO:0046697 9.46 GJA1 GJB2
9 gap junction assembly GO:0016264 9.43 GJA1 GJA5 GJB2
10 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.4 GJA1 GJA5
11 endothelium development GO:0003158 9.33 GJA1 GJA4 GJA5
12 positive regulation of cell communication by chemical coupling GO:0010652 9.32 GJA1 GJA5
13 cell communication GO:0007154 9.1 GJA1 GJA4 GJA5 GJB2 GJB4 GJC2
14 cell communication by electrical coupling GO:0010644 8.96 GJA1 GJA5

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

id Name GO ID Score Top Affiliating Genes
1 disordered domain specific binding GO:0097718 9.32 GJA1 GJA5
2 connexin binding GO:0071253 9.26 GJA1 GJA5
3 gap junction channel activity involved in cardiac conduction electrical coupling GO:0086075 9.16 GJA1 GJA5
4 gap junction channel activity GO:0005243 8.8 GJA1 GJA5 GJB2
5 gap junction channel activity involved in cell communication by electrical coupling GO:1903763 8.65 GJA1

Sources for Oculodentodigital Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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