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 57 12 53 25 59 75 37 29 13 55 6 44 15 40
Odd Syndrome 57 12 53 25 75
Oculodentoosseous Dysplasia 57 25 59 75
Oddd 57 53 25 75
Oculo-Dento-Digital Dysplasia 53 25 75
Oculodentodigital Syndrome 53 25 75
Odod 57 25 75
Oculo-Dento-Digital Syndrome 53 75
Oculodentodigital Dysplasia Syndrome 55
Oculodentoosseous Dysplasia; Odod 57
Osseous-Oculo-Dental Dysplasia 25
Oculo Dento Digital Dysplasia 76
Oculo-Dento-Osseous Dysplasia 25
Meyer-Schwickerath Syndrome 59
Oddd Syndrome 59
Odds 75

Characteristics:

Orphanet epidemiological data:

59
oculodentodigital dysplasia
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

57
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 : 57 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 keratosis and palmoplantar keratosis. 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 G-Beta Gamma Signaling. Affiliated tissues include eye, skin and testes, and related phenotypes are hypertelorism and finger syndactyly

UniProtKB/Swiss-Prot : 75 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.

NIH Rare Diseases : 53 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. 

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 : 76 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)
# Related Disease Score Top Affiliating Genes
1 keratosis 29.3 GJA1 GJB2
2 palmoplantar keratosis 29.0 GJB2 LOR
3 erythrokeratodermia variabilis et progressiva 1 27.8 GJA1 GJB2 GJB4 LOR
4 oculodentodigital dysplasia, autosomal recessive 12.4
5 oculodentoosseous dysplasia recessive 12.0
6 oculodentodigital dysplasia dominant 12.0
7 teeth, odd shapes of 11.9
8 fraser syndrome 1 11.3
9 oppositional defiant disorder 11.2
10 scalp-ear-nipple syndrome 11.1
11 syndactyly, type iii 11.0
12 pseudopapilledema 11.0
13 schizotypal personality disorder 11.0
14 ego-dystonic sexual orientation 11.0
15 optic disk drusen 11.0
16 persistent hyperplastic primary vitreous 10.2
17 cerebritis 10.1
18 spasticity 10.0
19 first-degree atrioventricular block 10.0 GJA5 GJC1
20 hypotrichosis-deafness syndrome 10.0 GJB2 GJB4
21 deafness, autosomal dominant 3a 10.0 GJB2 GJB4
22 kid syndrome 10.0 GJB2 GJB4
23 deafness, autosomal recessive 1a 9.9 GJB2 GJB4
24 hallermann-streiff syndrome 9.9
25 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
26 dilated cardiomyopathy 9.9
27 lymphedema 9.9
28 heart disease 9.9
29 gastroparesis 9.9
30 diarrhea 9.9
31 dysostosis 9.9
32 paraplegia 9.9
33 cleft lip 9.9
34 glioma 9.9
35 spastic paraparesis 9.9
36 mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma 9.8 GJB2 GJB4
37 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.8 GJA1 GJB2
38 sinoatrial node disease 9.7 GJA1 GJA5 GJC1
39 knuckle pads, leukonychia, and sensorineural deafness 9.6 GJA1 GJB2 GJB4
40 knuckle pads 9.6 GJA1 GJB2 GJB4
41 clouston syndrome 9.6 GJA1 GJB2 GJB4
42 vohwinkel syndrome 9.4 GJB2 LOR
43 ainhum 9.2 GJA1 GJB2 LOR
44 congenital ichthyosiform erythroderma 9.1 GJB4 LOR
45 pseudoainhum 8.7 GJA1 GJB2 GJB4 LOR
46 skin disease 8.6 GJA1 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:

57
Skeletal Hands:
clinodactyly
short middle phalanx of the 5th finger
syndactyly of 4th - 5th fingers
fifth finger camptodactyly
midphalangeal hypoplasia

Head And Neck Eyes:
cataract
microphthalmia
glaucoma
microcornea
epicanthal folds
more
Head And Neck Mouth:
cleft palate
broad alveolar ridges
cleft lip

Skeletal Limbs:
cubitus valgus
broad tubular bones

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

Skin Nails Hair Nails:
brittle nails

Abdomen Gastrointestinal:
bowel dysfunction (in some cases)

Skeletal Skull:
skull hyperostosis

Skeletal Feet:
syndactyly of 3rd - 4th toes

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

Neurologic Central Nervous System:
seizures
ataxia
spasticity
dysarthria
paraparesis
more
Head And Neck Head:
microcephaly

Head And Neck Teeth:
microdontia
selective tooth agenesis
premature loss of teeth
enamel hypoplasia
taurodontism (reported in 1 patient)
more
Skeletal Pelvis:
hip dislocation

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

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

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)

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


Clinical features from OMIM:

164200

Human phenotypes related to Oculodentodigital Dysplasia:

59 32 (show top 50) (show all 112)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 frequent (33%) Frequent (79-30%) HP:0000316
2 finger syndactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0006101
3 clinodactyly 59 32 Frequent (79-30%) HP:0030084
4 nystagmus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000639
5 intellectual disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001249
6 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
7 ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0001251
8 spasticity 59 32 Frequent (79-30%) HP:0001257
9 dysarthria 59 32 frequent (33%) Frequent (79-30%) HP:0001260
10 gait disturbance 59 32 frequent (33%) Frequent (79-30%) HP:0001288
11 muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0001324
12 hyperreflexia 59 32 frequent (33%) Frequent (79-30%) HP:0001347
13 cerebral calcification 59 32 frequent (33%) Frequent (79-30%) HP:0002514
14 mandibular prognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000303
15 cataract 59 32 frequent (33%) Frequent (79-30%) HP:0000518
16 carious teeth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000670
17 umbilical hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001537
18 abnormal cortical bone morphology 59 32 frequent (33%) Frequent (79-30%) HP:0003103
19 short nose 59 32 frequent (33%) Frequent (79-30%) HP:0003196
20 visual impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000505
21 optic atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0000648
22 arrhythmia 59 32 occasional (7.5%) Occasional (29-5%) HP:0011675
23 hypoglycemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001943
24 cleft palate 59 32 hallmark (90%) Very frequent (99-80%) HP:0000175
25 micrognathia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000347
26 palmoplantar keratoderma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000982
27 abnormality of the metaphysis 59 32 frequent (33%) Frequent (79-30%) HP:0000944
28 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
29 broad alveolar ridges 59 32 frequent (33%) Frequent (79-30%) HP:0000187
30 epicanthus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000286
31 abnormal form of the vertebral bodies 59 32 occasional (7.5%) Occasional (29-5%) HP:0003312
32 myopia 59 32 frequent (33%) Frequent (79-30%) HP:0000545
33 abnormality of the fingernails 59 32 frequent (33%) Frequent (79-30%) HP:0001231
34 madelung deformity 59 32 occasional (7.5%) Occasional (29-5%) HP:0003067
35 external ear malformation 59 32 frequent (33%) Frequent (79-30%) HP:0008572
36 aplasia/hypoplasia of the cerebellum 59 32 frequent (33%) Frequent (79-30%) HP:0007360
37 underdeveloped nasal alae 59 32 hallmark (90%) Very frequent (99-80%) HP:0000430
38 non-midline cleft lip 59 32 occasional (7.5%) Occasional (29-5%) HP:0100335
39 deeply set eye 59 32 occasional (7.5%) Occasional (29-5%) HP:0000490
40 clinodactyly of the 5th finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0004209
41 glaucoma 59 32 frequent (33%) Frequent (79-30%) HP:0000501
42 conductive hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000405
43 upslanted palpebral fissure 59 32 occasional (7.5%) Occasional (29-5%) HP:0000582
44 hypotrichosis 59 32 frequent (33%) Frequent (79-30%) HP:0001006
45 brachydactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001156
46 abnormality of dental enamel 59 32 hallmark (90%) Very frequent (99-80%) HP:0000682
47 ventricular septal defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0001629
48 taurodontia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000679
49 fine hair 59 32 occasional (7.5%) Occasional (29-5%) HP:0002213
50 reduced number of teeth 59 32 hallmark (90%) Very frequent (99-80%) HP:0009804

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance GR00210-A 8.8 GJA1 GJA5 GJB2

MGI Mouse Phenotypes related to Oculodentodigital Dysplasia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 no phenotypic analysis MP:0003012 8.92 GJA1 GJA5 GJB2 GJC1

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:

# Genetic test Affiliating Genes
1 Oculodentodigital Dysplasia 29 GJA1

Anatomical Context for Oculodentodigital Dysplasia

MalaCards organs/tissues related to Oculodentodigital Dysplasia:

41
Eye, Skin, Testes, Bone, Heart, Cerebellum, Brain

Publications for Oculodentodigital Dysplasia

Articles related to Oculodentodigital Dysplasia:

(show top 50) (show all 97)
# Title Authors Year
1
Autosomal Recessive Oculodentodigital Dysplasia: A Case Report and Review of the Literature. ( 29902798 )
2018
2
A rare symptom of a very rare disease: a case report of a oculodentodigital dysplasia with lymphedema. ( 29624507 )
2018
3
Relative anterior microphthalmos in oculodentodigital dysplasia. ( 29380799 )
2018
4
Mice harbouring an oculodentodigital dysplasia-linked Cx43 G60S mutation have severe hearing loss. ( 29618634 )
2018
5
Oculodentodigital Dysplasia Presenting as Spastic Paraparesis: The First Genetically Confirmed Korean Case and a Literature Review. ( 28950687 )
2017
6
A novel GJA1 mutation in oculodentodigital dysplasia with extensive loss of enamel. ( 28258662 )
2017
7
Specific functional pathologies of Cx43 mutations associated with oculodentodigital dysplasia. ( 27226478 )
2016
8
Case report: imaging and treatment of ophthalmic manifestations in oculodentodigital dysplasia. ( 26743931 )
2016
9
Oculodentodigital dysplasia. ( 27146935 )
2016
10
A novel GJA1 mutation causing familial oculodentodigital dysplasia with dilated cardiomyopathy and arrhythmia. ( 28491627 )
2016
11
Missense and deletion mutations in GJA1 causing oculodentodigital dysplasia in two Indian families. ( 26087145 )
2015
12
Manipulating Cx43 expression triggers gene reprogramming events in dermal fibroblasts from oculodentodigital dysplasia patients. ( 26349540 )
2015
13
Oculodentodigital Dysplasia with Massive Brain Calcification and a New Mutation of GJA1 Gene. ( 26444782 )
2015
14
Myogenic bladder defects in mouse models of human oculodentodigital dysplasia. ( 24228978 )
2014
15
Japanese case of oculodentodigital dysplasia caused by a mutation in the GJA1 gene. ( 25327171 )
2014
16
Dominant De Novo Mutations in GJA1 Cause Erythrokeratodermia Variabilis Et Progressiva, without Features of Oculodentodigital Dysplasia. ( 25398053 )
2014
17
Clinical manifestations of oculodentodigital dysplasia. ( 25231047 )
2014
18
Maxillo-facial radiology case 118. Oculodentodigital dysplasia. ( 24974522 )
2014
19
Palmoplantar keratosis in oculodentodigital dysplasia with a GJA1 point mutation out of the C-terminal region of connexin 43. ( 25388818 )
2014
20
Autosomal recessive GJA1 (Cx43) gene mutations cause oculodentodigital dysplasia by distinct mechanisms. ( 23606748 )
2013
21
Congenital heart defects in oculodentodigital dysplasia: Report of two cases. ( 24115525 )
2013
22
Cerebral ischemic injury is enhanced in a model of oculodentodigital dysplasia. ( 23727526 )
2013
23
Neurological manifestations of oculodentodigital dysplasia: a Cx43 channelopathy of the central nervous system? ( 24133447 )
2013
24
Cleft lip in oculodentodigital dysplasia suggests novel roles for connexin43. ( 22699666 )
2012
25
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
26
Characterization of gap junction proteins in the bladder of Cx43 mutant mouse models of oculodentodigital dysplasia. ( 22752022 )
2012
27
Teaching neuroimages: oculodentodigital dysplasia: hypomyelination and syndactyly. ( 23071171 )
2012
28
A novel GJA1 mutation in oculodentodigital dysplasia with progressive spastic paraplegia and sensory deficits. ( 22214631 )
2012
29
Structure and functional studies of N-terminal Cx43 mutants linked to oculodentodigital dysplasia. ( 22809623 )
2012
30
Oculodentodigital dysplasia: ulnar-sided syndactyly and its associated disorders. ( 22036282 )
2011
31
Male reproductive system defects and subfertility in a mutant mouse model of oculodentodigital dysplasia. ( 22004529 )
2011
32
The G60S connexin43 mutant regulates hair growth and hair fiber morphology in a mouse model of human oculodentodigital dysplasia. ( 21716323 )
2011
33
Ocular pathology relevant to glaucoma in a Gja1(Jrt/+) mouse model of human oculodentodigital dysplasia. ( 21273537 )
2011
34
Oculodentodigital dysplasia: new ocular findings and a novel connexin 43 mutation. ( 21670345 )
2011
35
Atrial tachycardia/fibrillation in the connexin 43 G60S mutant (Oculodentodigital dysplasia) mouse. ( 21239638 )
2011
36
Human dermal fibroblasts derived from oculodentodigital dysplasia patients suggest that patients may have wound-healing defects. ( 21305658 )
2011
37
[Hereditary glaucoma associated with oculodentodigital dysplasia]. ( 21893263 )
2011
38
A severe progressive oculodentodigital dysplasia due to compound heterozygous GJA1 mutation. ( 20597923 )
2010
39
Dental management of oculodentodigital dysplasia: a case report. ( 20587963 )
2010
40
GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype. ( 19338053 )
2009
41
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
42
A novel GJA1 missense mutation in a Polish child with oculodentodigital dysplasia. ( 19638688 )
2009
43
Oogenesis defects in a mutant mouse model of oculodentodigital dysplasia. ( 19259389 )
2009
44
A case of oculodentodigital dysplasia syndrome with novel GJA1 gene mutation. ( 19847613 )
2009
45
Oculodentodigital dysplasia: disease spectrum in an eight-year-old boy, his parents and a sibling. ( 19725242 )
2009
46
Ocular manifestations in oculodentodigital dysplasia resulting from a heterozygous missense mutation (L113P) in GJA1 (connexin 43). ( 18425059 )
2009
47
Variable expression of neurological phenotype in autosomal recessive oculodentodigital dysplasia of two sibs and review of the literature. ( 17476528 )
2008
48
Decreased levels of connexin43 result in impaired development of the mammary gland in a mouse model of oculodentodigital dysplasia. ( 18455714 )
2008
49
The conditional connexin43G138R mouse mutant represents a new model of hereditary oculodentodigital dysplasia in humans. ( 18003637 )
2008
50
Report of a black South African child with oculodentodigital dysplasia and a novel GJA1 gene mutation. ( 18412120 )
2008

Variations for Oculodentodigital Dysplasia

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

75 (show all 44)
# Symbol AA change Variation ID SNP ID
1 GJA1 p.Arg148Gln VAR_014095 rs962041031
2 GJA1 p.Tyr17Ser VAR_015747 rs104893961
3 GJA1 p.Ser18Pro VAR_015748 rs104893962
4 GJA1 p.Gly21Arg VAR_015749 rs104893963
5 GJA1 p.Gly22Glu VAR_015750 rs104893964
6 GJA1 p.Lys23Thr VAR_015751
7 GJA1 p.Ala40Val VAR_015752
8 GJA1 p.Gln49Lys VAR_015753
9 GJA1 p.Arg76Ser VAR_015755 rs267606845
10 GJA1 p.Leu90Val VAR_015756
11 GJA1 p.Tyr98Cys VAR_015757
12 GJA1 p.Lys102Asn VAR_015758
13 GJA1 p.Ile130Thr VAR_015759
14 GJA1 p.Lys134Glu VAR_015760
15 GJA1 p.Gly138Arg VAR_015761
16 GJA1 p.Arg202His VAR_015762 rs750294638
17 GJA1 p.Val216Leu VAR_015763
18 GJA1 p.Ser27Pro VAR_038356
19 GJA1 p.Ile31Met VAR_038357
20 GJA1 p.Ser69Tyr VAR_038358
21 GJA1 p.Leu113Pro VAR_038359
22 GJA1 p.Lys134Asn VAR_038360
23 GJA1 p.Gly2Val VAR_058990
24 GJA1 p.Leu7Val VAR_058991
25 GJA1 p.Leu11Pro VAR_058992 rs121912969
26 GJA1 p.Gln49Pro VAR_058994
27 GJA1 p.Pro59His VAR_058996
28 GJA1 p.His95Arg VAR_058998
29 GJA1 p.Val96Ala VAR_058999
30 GJA1 p.Val96Glu VAR_059000
31 GJA1 p.Val96Met VAR_059001 rs28931601
32 GJA1 p.Leu106Pro VAR_059002
33 GJA1 p.Glu110Asp VAR_059003
34 GJA1 p.Met147Thr VAR_059004 rs1057518872Oculodentodigital
35 GJA1 p.Thr154Ala VAR_059005
36 GJA1 p.Thr154Asn VAR_059006
37 GJA1 p.His194Pro VAR_059008 rs104893966
38 GJA1 p.Ser201Phe VAR_059009
39 GJA1 p.Ser220Tyr VAR_059010
40 GJA1 p.Lys206Arg VAR_070440 rs397518464
41 GJA1 p.Asp47His VAR_071009
42 GJA1 p.Ser86Tyr VAR_071010
43 GJA1 p.Leu106Arg VAR_071011
44 GJA1 p.Leu11Ile VAR_078238

ClinVar genetic disease variations for Oculodentodigital Dysplasia:

6
(show top 50) (show all 100)
# 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.50A> C (p.Tyr17Ser) single nucleotide variant Pathogenic rs104893961 GRCh38 Chromosome 6, 121446897: 121446897
3 GJA1 NM_000165.4(GJA1): c.52T> C (p.Ser18Pro) single nucleotide variant Pathogenic rs104893962 GRCh37 Chromosome 6, 121768045: 121768045
4 GJA1 NM_000165.4(GJA1): c.52T> C (p.Ser18Pro) single nucleotide variant Pathogenic rs104893962 GRCh38 Chromosome 6, 121446899: 121446899
5 GJA1 NM_000165.4(GJA1): c.61G> A (p.Gly21Arg) single nucleotide variant Pathogenic rs104893963 GRCh37 Chromosome 6, 121768054: 121768054
6 GJA1 NM_000165.4(GJA1): c.61G> A (p.Gly21Arg) single nucleotide variant Pathogenic rs104893963 GRCh38 Chromosome 6, 121446908: 121446908
7 GJA1 NM_000165.4(GJA1): c.65G> A (p.Gly22Glu) single nucleotide variant Pathogenic rs104893964 GRCh37 Chromosome 6, 121768058: 121768058
8 GJA1 NM_000165.4(GJA1): c.65G> A (p.Gly22Glu) single nucleotide variant Pathogenic rs104893964 GRCh38 Chromosome 6, 121446912: 121446912
9 GJA1 GJA1, 3-BP DUP, 154TTT duplication Pathogenic
10 GJA1 NM_000165.4(GJA1): c.286G> A (p.Val96Met) single nucleotide variant Pathogenic rs28931601 GRCh37 Chromosome 6, 121768279: 121768279
11 GJA1 NM_000165.4(GJA1): c.286G> A (p.Val96Met) single nucleotide variant Pathogenic rs28931601 GRCh38 Chromosome 6, 121447133: 121447133
12 GJA1 GJA1, 2-BP DEL, 780T-G deletion Pathogenic
13 GJA1 NM_000165.4(GJA1): c.581A> C (p.His194Pro) single nucleotide variant Pathogenic rs104893966 GRCh37 Chromosome 6, 121768574: 121768574
14 GJA1 NM_000165.4(GJA1): c.581A> C (p.His194Pro) single nucleotide variant Pathogenic rs104893966 GRCh38 Chromosome 6, 121447428: 121447428
15 GJA1 NM_000165.4(GJA1): c.32T> C (p.Leu11Pro) single nucleotide variant Pathogenic rs121912969 GRCh37 Chromosome 6, 121768025: 121768025
16 GJA1 NM_000165.4(GJA1): c.32T> C (p.Leu11Pro) single nucleotide variant Pathogenic rs121912969 GRCh38 Chromosome 6, 121446879: 121446879
17 GJA1 GJA1, 2-BP DEL, 679AT deletion Pathogenic
18 GJA1 NM_000165.4(GJA1): c.226C> A (p.Arg76Ser) single nucleotide variant Likely pathogenic rs267606845 GRCh37 Chromosome 6, 121768219: 121768219
19 GJA1 NM_000165.4(GJA1): c.226C> A (p.Arg76Ser) single nucleotide variant Likely pathogenic rs267606845 GRCh38 Chromosome 6, 121447073: 121447073
20 GJA1 GJA1, 12-BP DEL, NT120 deletion Pathogenic
21 GJA1 NM_000165.4(GJA1): c.31C> T (p.Leu11Phe) single nucleotide variant Pathogenic rs387906616 GRCh37 Chromosome 6, 121768024: 121768024
22 GJA1 NM_000165.4(GJA1): c.31C> T (p.Leu11Phe) single nucleotide variant Pathogenic rs387906616 GRCh38 Chromosome 6, 121446878: 121446878
23 GJA1 NM_000165.4(GJA1): c.617A> G (p.Lys206Arg) single nucleotide variant Pathogenic rs397518464 GRCh37 Chromosome 6, 121768610: 121768610
24 GJA1 NM_000165.4(GJA1): c.617A> G (p.Lys206Arg) single nucleotide variant Pathogenic rs397518464 GRCh38 Chromosome 6, 121447464: 121447464
25 GJA1 NM_000165.4(GJA1): c.*3dupA duplication Benign rs397824185 GRCh37 Chromosome 6, 121769145: 121769145
26 GJA1 NM_000165.4(GJA1): c.*3dupA duplication Benign rs397824185 GRCh38 Chromosome 6, 121447999: 121447999
27 GJA1 NM_000165.4(GJA1): c.-135C> T single nucleotide variant Likely benign rs539558089 GRCh37 Chromosome 6, 121756860: 121756860
28 GJA1 NM_000165.4(GJA1): c.-135C> T single nucleotide variant Likely benign rs539558089 GRCh38 Chromosome 6, 121435714: 121435714
29 GJA1 NM_000165.4(GJA1): c.-67C> G single nucleotide variant Likely benign rs111581053 GRCh37 Chromosome 6, 121756928: 121756928
30 GJA1 NM_000165.4(GJA1): c.-67C> G single nucleotide variant Likely benign rs111581053 GRCh38 Chromosome 6, 121435782: 121435782
31 GJA1 NM_000165.4(GJA1): c.*47A> G single nucleotide variant Uncertain significance rs886061010 GRCh37 Chromosome 6, 121769189: 121769189
32 GJA1 NM_000165.4(GJA1): c.*47A> G single nucleotide variant Uncertain significance rs886061010 GRCh38 Chromosome 6, 121448043: 121448043
33 GJA1 NM_000165.4(GJA1): c.*191G> A single nucleotide variant Uncertain significance rs886061012 GRCh37 Chromosome 6, 121769333: 121769333
34 GJA1 NM_000165.4(GJA1): c.*191G> A single nucleotide variant Uncertain significance rs886061012 GRCh38 Chromosome 6, 121448187: 121448187
35 GJA1 NM_000165.4(GJA1): c.*243A> G single nucleotide variant Likely benign rs139128953 GRCh37 Chromosome 6, 121769385: 121769385
36 GJA1 NM_000165.4(GJA1): c.*243A> G single nucleotide variant Likely benign rs139128953 GRCh38 Chromosome 6, 121448239: 121448239
37 GJA1 NM_000165.4(GJA1): c.*285A> T single nucleotide variant Likely benign rs72548748 GRCh37 Chromosome 6, 121769427: 121769427
38 GJA1 NM_000165.4(GJA1): c.*285A> T single nucleotide variant Likely benign rs72548748 GRCh38 Chromosome 6, 121448281: 121448281
39 GJA1 NM_000165.4(GJA1): c.*1077T> C single nucleotide variant Likely benign rs528853645 GRCh37 Chromosome 6, 121770219: 121770219
40 GJA1 NM_000165.4(GJA1): c.*1077T> C single nucleotide variant Likely benign rs528853645 GRCh38 Chromosome 6, 121449073: 121449073
41 GJA1 NM_000165.4(GJA1): c.*1101T> C single nucleotide variant Uncertain significance rs886061022 GRCh38 Chromosome 6, 121449097: 121449097
42 GJA1 NM_000165.4(GJA1): c.*1101T> C single nucleotide variant Uncertain significance rs886061022 GRCh37 Chromosome 6, 121770243: 121770243
43 GJA1 NM_000165.4(GJA1): c.-161G> T single nucleotide variant Uncertain significance rs764033415 GRCh37 Chromosome 6, 121756834: 121756834
44 GJA1 NM_000165.4(GJA1): c.-161G> T single nucleotide variant Uncertain significance rs764033415 GRCh38 Chromosome 6, 121435688: 121435688
45 GJA1 NM_000165.4(GJA1): c.-16-12T> A single nucleotide variant Likely benign rs56199702 GRCh37 Chromosome 6, 121767966: 121767966
46 GJA1 NM_000165.4(GJA1): c.-16-12T> A single nucleotide variant Likely benign rs56199702 GRCh38 Chromosome 6, 121446820: 121446820
47 GJA1 NM_000165.4(GJA1): c.*163G> A single nucleotide variant Uncertain significance rs886061011 GRCh37 Chromosome 6, 121769305: 121769305
48 GJA1 NM_000165.4(GJA1): c.*163G> A single nucleotide variant Uncertain significance rs886061011 GRCh38 Chromosome 6, 121448159: 121448159
49 GJA1 NM_000165.4(GJA1): c.*772_*773dupTT duplication Likely benign rs397698276 GRCh38 Chromosome 6, 121448768: 121448769
50 GJA1 NM_000165.4(GJA1): c.*772_*773dupTT duplication Likely benign rs397698276 GRCh37 Chromosome 6, 121769914: 121769915

Expression for Oculodentodigital Dysplasia

Search GEO for disease gene expression data for Oculodentodigital Dysplasia.

Pathways for Oculodentodigital Dysplasia

Pathways related to Oculodentodigital Dysplasia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.87 GJA1 GJA5 GJB2 GJB4 GJC1
2
Show member pathways
12.42 GJA1 GJA5 GJB2 GJB4 GJC1
3
Show member pathways
12.05 GJA1 GJA5 GJB2 GJC1
4
Show member pathways
11.84 GJA1 GJA5 GJB2 GJB4 GJC1
5 11.18 GJA1 GJA5
6
Show member pathways
11.01 GJA1 GJA5 GJB2 GJB4 GJC1
7 10.91 GJA1 GJA5
8
Show member pathways
10.28 GJA1 GJB2

GO Terms for Oculodentodigital Dysplasia

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

# Name GO ID Score Top Affiliating Genes
1 cell junction GO:0030054 9.63 ESCO2 GJA1 GJA5 GJB2 GJB4 GJC1
2 intercalated disc GO:0014704 9.43 GJA1 GJA5 GJC1
3 gap junction GO:0005921 9.35 GJA1 GJA5 GJB2 GJB4 GJC1
4 lateral plasma membrane GO:0016328 9.32 GJA1 GJB2
5 connexin complex GO:0005922 9.02 GJA1 GJA5 GJB2 GJB4 GJC1

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

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 cell-cell signaling GO:0007267 9.78 GJA1 GJB2 GJC1
2 heart development GO:0007507 9.76 GJA1 GJA5 GJC1
3 muscle contraction GO:0006936 9.62 GJA1 GJC1
4 protein complex oligomerization GO:0051259 9.62 GJA1 GJA5
5 cardiac conduction GO:0061337 9.61 GJA1 GJA5
6 response to retinoic acid GO:0032526 9.6 GJA1 GJB2
7 positive regulation of vasoconstriction GO:0045907 9.59 GJA1 GJA5
8 positive regulation of blood vessel diameter GO:0097755 9.58 GJA1 GJA5
9 decidualization GO:0046697 9.57 GJA1 GJB2
10 embryonic heart tube development GO:0035050 9.56 GJA1 GJA5
11 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.55 GJA1 GJA5
12 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.54 GJA1 GJA5
13 regulation of atrial cardiac muscle cell membrane depolarization GO:0060371 9.52 GJA1 GJA5
14 atrial cardiac muscle cell action potential GO:0086014 9.51 GJA1 GJC1
15 regulation of ventricular cardiac muscle cell membrane depolarization GO:0060373 9.49 GJA1 GJA5
16 endothelium development GO:0003158 9.48 GJA1 GJA5
17 cell communication by electrical coupling GO:0010644 9.46 GJA1 GJA5
18 epididymis development GO:1905867 9.43 GJA1 GJB2
19 cell communication by chemical coupling GO:0010643 9.4 GJA1 GJA5
20 AV node cell to bundle of His cell communication by electrical coupling GO:0086053 9.37 GJA5 GJC1
21 cell communication GO:0007154 9.35 GJA1 GJA5 GJB2 GJB4 GJC1
22 atrial ventricular junction remodeling GO:0003294 9.32 GJA1 GJA5
23 positive regulation of cell communication by chemical coupling GO:0010652 9.26 GJA1 GJA5
24 SA node cell to atrial cardiac muscle cell communication by electrical coupling GO:0086021 9.16 GJA5 GJC1
25 gap junction assembly GO:0016264 8.92 GJA1 GJA5 GJB2 GJC1

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

# Name GO ID Score Top Affiliating Genes
1 disordered domain specific binding GO:0097718 9.37 GJA1 GJA5
2 connexin binding GO:0071253 9.32 GJA1 GJA5
3 gap junction channel activity involved in cardiac conduction electrical coupling GO:0086075 9.26 GJA1 GJA5
4 gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling GO:0086077 9.16 GJA5 GJC1
5 gap junction channel activity involved in SA node cell-atrial cardiac muscle cell electrical coupling GO:0086020 8.96 GJA5 GJC1
6 gap junction channel activity GO:0005243 8.92 GJA1 GJA5 GJB2 GJC1

Sources for Oculodentodigital Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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