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 53 12 49 24 55 71 36 28 13 51 41 14
Odd Syndrome 53 12 49 24 71
Oculodentoosseous Dysplasia 53 24 55 71
Oddd 53 49 24 71
Oculo-Dento-Digital Dysplasia 49 24 71
Oculodentodigital Syndrome 49 24 71
Odod 53 24 71
Oculo-Dento-Digital Syndrome 49 71
Oculodentodigital Dysplasia Syndrome 51
Oculodentoosseous Dysplasia; Odod 53
Osseous-Oculo-Dental Dysplasia 24
Oculo Dento Digital Dysplasia 72
Oculo-Dento-Osseous Dysplasia 24
Meyer-Schwickerath Syndrome 55
Oddd Syndrome 55
Odds 71

Characteristics:

Orphanet epidemiological data:

55
oculodentodigital dysplasia
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

53
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:

31
oculodentodigital dysplasia:
Onset and clinical course phenotypic variability
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Oculodentodigital Dysplasia

OMIM : 53 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 hallermann-streiff syndrome and palmoplantar keratosis, and has symptoms including ataxia, seizures and muscle weakness. 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 phenotype is Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance.

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.

NIH Rare Diseases : 49 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

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.

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 43)
# Related Disease Score Top Affiliating Genes
1 hallermann-streiff syndrome 29.8 GJA1 GJC2
2 palmoplantar keratosis 29.4 GJB2 LOR
3 erythrokeratodermia variabilis et progressiva 1 28.9 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 oppositional defiant disorder 11.3
9 fraser syndrome 1 11.3
10 scalp-ear-nipple syndrome 11.1
11 syndactyly, type iii 11.1
12 pseudopapilledema 11.0
13 schizotypal personality disorder 11.0
14 ego-dystonic sexual orientation 11.0
15 optic disk drusen 11.0
16 chromosome 2q35 duplication syndrome 10.3
17 persistent hyperplastic primary vitreous 10.2
18 cerebritis 10.1
19 pelizaeus-merzbacher-like disease 10.1 GJA1 GJC2
20 hypotrichosis-deafness syndrome 10.1 GJB2 GJB4
21 kid syndrome 10.1 GJB2 GJB4
22 sinoatrial node disease 10.1 GJA1 GJA5
23 hypomyelinating leukoencephalopathy 10.1 GJA1 GJC2
24 heart disease 10.0
25 spasticity 10.0
26 mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma 10.0 GJB2 GJB4
27 dilated cardiomyopathy 9.9
28 diarrhea 9.9
29 keratosis 9.9
30 dysostosis 9.9
31 paraplegia 9.9
32 cleft lip 9.9
33 glioma 9.9
34 spastic paraparesis 9.9
35 vohwinkel syndrome 9.9 GJB2 LOR
36 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.8 GJA1 GJB2
37 knuckle pads, leukonychia, and sensorineural deafness 9.8 GJA1 GJB2 GJB4
38 knuckle pads 9.8 GJA1 GJB2 GJB4
39 clouston syndrome 9.8 GJA1 GJB2 GJB4
40 ainhum 9.7 GJA1 GJB2 LOR
41 congenital ichthyosiform erythroderma 9.6 GJB4 LOR
42 pseudoainhum 9.4 GJA1 GJB2 GJB4 LOR
43 skin disease 9.4 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:

53
Neurologic Central Nervous System:
ataxia
seizures
paraparesis
quadriparesis
spasticity
more
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 Gastroin testinal:
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

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

Head And Neck Head:
microcephaly

Head And Neck Teeth:
microdontia
premature loss of teeth
selective tooth agenesis
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:

55 31 (show top 50) (show all 112)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 55 31 frequent (33%) Frequent (79-30%) HP:0001251
2 seizures 55 31 frequent (33%) Frequent (79-30%) HP:0001250
3 muscle weakness 55 31 frequent (33%) Frequent (79-30%) HP:0001324
4 hypertelorism 55 31 frequent (33%) Frequent (79-30%) HP:0000316
5 finger syndactyly 55 31 hallmark (90%) Very frequent (99-80%) HP:0006101
6 clinodactyly 55 31 Frequent (79-30%) HP:0030084
7 nystagmus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000639
8 intellectual disability 55 31 occasional (7.5%) Occasional (29-5%) HP:0001249
9 spasticity 55 31 Frequent (79-30%) HP:0001257
10 dysarthria 55 31 frequent (33%) Frequent (79-30%) HP:0001260
11 gait disturbance 55 31 frequent (33%) Frequent (79-30%) HP:0001288
12 hyperreflexia 55 31 frequent (33%) Frequent (79-30%) HP:0001347
13 cerebral calcification 55 31 frequent (33%) Frequent (79-30%) HP:0002514
14 mandibular prognathia 55 31 frequent (33%) Frequent (79-30%) HP:0000303
15 cataract 55 31 frequent (33%) Frequent (79-30%) HP:0000518
16 carious teeth 55 31 hallmark (90%) Very frequent (99-80%) HP:0000670
17 umbilical hernia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001537
18 abnormal cortical bone morphology 55 31 frequent (33%) Frequent (79-30%) HP:0003103
19 short nose 55 31 frequent (33%) Frequent (79-30%) HP:0003196
20 visual impairment 55 31 frequent (33%) Frequent (79-30%) HP:0000505
21 optic atrophy 55 31 frequent (33%) Frequent (79-30%) HP:0000648
22 arrhythmia 55 31 occasional (7.5%) Occasional (29-5%) HP:0011675
23 hypoglycemia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001943
24 cleft palate 55 31 hallmark (90%) Very frequent (99-80%) HP:0000175
25 micrognathia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000347
26 palmoplantar keratoderma 55 31 occasional (7.5%) Occasional (29-5%) HP:0000982
27 abnormality of the metaphysis 55 31 frequent (33%) Frequent (79-30%) HP:0000944
28 strabismus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000486
29 broad alveolar ridges 55 31 frequent (33%) Frequent (79-30%) HP:0000187
30 epicanthus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000286
31 abnormal form of the vertebral bodies 55 31 occasional (7.5%) Occasional (29-5%) HP:0003312
32 myopia 55 31 frequent (33%) Frequent (79-30%) HP:0000545
33 abnormality of the fingernails 55 31 frequent (33%) Frequent (79-30%) HP:0001231
34 madelung deformity 55 31 occasional (7.5%) Occasional (29-5%) HP:0003067
35 external ear malformation 55 31 frequent (33%) Frequent (79-30%) HP:0008572
36 aplasia/hypoplasia of the cerebellum 55 31 frequent (33%) Frequent (79-30%) HP:0007360
37 underdeveloped nasal alae 55 31 hallmark (90%) Very frequent (99-80%) HP:0000430
38 non-midline cleft lip 55 31 occasional (7.5%) Occasional (29-5%) HP:0100335
39 deeply set eye 55 31 occasional (7.5%) Occasional (29-5%) HP:0000490
40 clinodactyly of the 5th finger 55 31 hallmark (90%) Very frequent (99-80%) HP:0004209
41 glaucoma 55 31 frequent (33%) Frequent (79-30%) HP:0000501
42 conductive hearing impairment 55 31 frequent (33%) Frequent (79-30%) HP:0000405
43 upslanted palpebral fissure 55 31 occasional (7.5%) Occasional (29-5%) HP:0000582
44 hypotrichosis 55 31 frequent (33%) Frequent (79-30%) HP:0001006
45 brachydactyly 55 31 occasional (7.5%) Occasional (29-5%) HP:0001156
46 abnormality of dental enamel 55 31 hallmark (90%) Very frequent (99-80%) HP:0000682
47 ventricular septal defect 55 31 occasional (7.5%) Occasional (29-5%) HP:0001629
48 taurodontia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000679
49 fine hair 55 31 occasional (7.5%) Occasional (29-5%) HP:0002213
50 reduced number of teeth 55 31 hallmark (90%) Very frequent (99-80%) HP:0009804

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

25
# 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

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 28 GJA1

Anatomical Context for Oculodentodigital Dysplasia

MalaCards organs/tissues related to Oculodentodigital Dysplasia:

38
Eye, Skin, Testes, Bone, Heart, Cerebellum, Brain

Publications for Oculodentodigital Dysplasia

Articles related to Oculodentodigital Dysplasia:

(show top 50) (show all 93)
# Title Authors Year
1
Relative anterior microphthalmos in oculodentodigital dysplasia. ( 29380799 )
2018
2
Oculodentodigital Dysplasia Presenting as Spastic Paraparesis: The First Genetically Confirmed Korean Case and a Literature Review. ( 28950687 )
2017
3
A novel GJA1 mutation in oculodentodigital dysplasia with extensive loss of enamel. ( 28258662 )
2017
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
A novel GJA1 mutation causing familial oculodentodigital dysplasia with dilated cardiomyopathy and arrhythmia. ( 28491627 )
2016
8
Oculodentodigital Dysplasia with Massive Brain Calcification and a New Mutation of GJA1 Gene. ( 26444782 )
2015
9
Missense and deletion mutations in GJA1 causing oculodentodigital dysplasia in two Indian families. ( 26087145 )
2015
10
Manipulating Cx43 expression triggers gene reprogramming events in dermal fibroblasts from oculodentodigital dysplasia patients. ( 26349540 )
2015
11
Palmoplantar keratosis in oculodentodigital dysplasia with a GJA1 point mutation out of the C-terminal region of connexin 43. ( 25388818 )
2014
12
Japanese case of oculodentodigital dysplasia caused by a mutation in the GJA1 gene. ( 25327171 )
2014
13
Clinical manifestations of oculodentodigital dysplasia. ( 25231047 )
2014
14
Dominant De Novo Mutations in GJA1 Cause Erythrokeratodermia Variabilis Et Progressiva, without Features of Oculodentodigital Dysplasia. ( 25398053 )
2014
15
Myogenic bladder defects in mouse models of human oculodentodigital dysplasia. ( 24228978 )
2014
16
Maxillo-facial radiology case 118. Oculodentodigital dysplasia. ( 24974522 )
2014
17
Neurological manifestations of oculodentodigital dysplasia: a Cx43 channelopathy of the central nervous system? ( 24133447 )
2013
18
Cerebral ischemic injury is enhanced in a model of oculodentodigital dysplasia. ( 23727526 )
2013
19
Autosomal recessive GJA1 (Cx43) gene mutations cause oculodentodigital dysplasia by distinct mechanisms. ( 23606748 )
2013
20
Congenital heart defects in oculodentodigital dysplasia: Report of two cases. ( 24115525 )
2013
21
Teaching neuroimages: oculodentodigital dysplasia: hypomyelination and syndactyly. ( 23071171 )
2012
22
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
23
Structure and functional studies of N-terminal Cx43 mutants linked to oculodentodigital dysplasia. ( 22809623 )
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
A novel GJA1 mutation in oculodentodigital dysplasia with progressive spastic paraplegia and sensory deficits. ( 22214631 )
2012
27
Ocular pathology relevant to glaucoma in a Gja1(Jrt/+) mouse model of human oculodentodigital dysplasia. ( 21273537 )
2011
28
Oculodentodigital dysplasia: ulnar-sided syndactyly and its associated disorders. ( 22036282 )
2011
29
The G60S connexin43 mutant regulates hair growth and hair fiber morphology in a mouse model of human oculodentodigital dysplasia. ( 21716323 )
2011
30
Human dermal fibroblasts derived from oculodentodigital dysplasia patients suggest that patients may have wound-healing defects. ( 21305658 )
2011
31
Oculodentodigital dysplasia: new ocular findings and a novel connexin 43 mutation. ( 21670345 )
2011
32
Male reproductive system defects and subfertility in a mutant mouse model of oculodentodigital dysplasia. ( 22004529 )
2011
33
Atrial tachycardia/fibrillation in the connexin 43 G60S mutant (Oculodentodigital dysplasia) mouse. ( 21239638 )
2011
34
A severe progressive oculodentodigital dysplasia due to compound heterozygous GJA1 mutation. ( 20597923 )
2010
35
Dental management of oculodentodigital dysplasia: a case report. ( 20587963 )
2010
36
Oogenesis defects in a mutant mouse model of oculodentodigital dysplasia. ( 19259389 )
2009
37
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
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
A novel GJA1 missense mutation in a Polish child with oculodentodigital dysplasia. ( 19638688 )
2009
41
Ocular manifestations in oculodentodigital dysplasia resulting from a heterozygous missense mutation (L113P) in GJA1 (connexin 43). ( 18425059 )
2009
42
GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype. ( 19338053 )
2009
43
Report of a black South African child with oculodentodigital dysplasia and a novel GJA1 gene mutation. ( 18412120 )
2008
44
Variable expression of neurological phenotype in autosomal recessive oculodentodigital dysplasia of two sibs and review of the literature. ( 17476528 )
2008
45
Expanding the neurologic phenotype of oculodentodigital dysplasia in a 4-generation Hispanic family. ( 18660473 )
2008
46
The conditional connexin43G138R mouse mutant represents a new model of hereditary oculodentodigital dysplasia in humans. ( 18003637 )
2008
47
Decreased levels of connexin43 result in impaired development of the mammary gland in a mouse model of oculodentodigital dysplasia. ( 18455714 )
2008
48
Gap junction remodeling and cardiac arrhythmogenesis in a murine model of oculodentodigital dysplasia. ( 18077386 )
2007
49
Some oculodentodigital dysplasia-associated Cx43 mutations cause increased hemichannel activity in addition to deficient gap junction channels. ( 17687502 )
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 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 all 17)
# 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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.82 GJA1 GJA5 GJB2 GJB4 GJC2
2
Show member pathways
12.42 GJA1 GJA5 GJB2 GJB4 GJC2
3
Show member pathways
12.07 GJA1 GJA5 GJB2
4
Show member pathways
11.84 GJA1 GJA5 GJB2 GJB4 GJC2
5 11.18 GJA1 GJA5
6
Show member pathways
11.01 GJA1 GJA5 GJB2 GJB4 GJC2
7 10.87 GJA1 GJA5
8
Show member pathways
10.21 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 GJC2
2 gap junction GO:0005921 9.35 GJA1 GJA5 GJB2 GJB4 GJC2
3 lateral plasma membrane GO:0016328 9.32 GJA1 GJB2
4 intercalated disc GO:0014704 9.26 GJA1 GJA5
5 connexin complex GO:0005922 9.02 GJA1 GJA5 GJB2 GJB4 GJC2

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.85 GJA1 GJA5 GJB2 GJC2
2 cell-cell signaling GO:0007267 9.77 GJA1 GJB2 GJC2
3 protein oligomerization GO:0051259 9.61 GJA1 GJA5
4 cardiac conduction GO:0061337 9.6 GJA1 GJA5
5 response to retinoic acid GO:0032526 9.58 GJA1 GJB2
6 response to ischemia GO:0002931 9.58 GJA1 GJB2
7 positive regulation of vasoconstriction GO:0045907 9.57 GJA1 GJA5
8 positive regulation of blood vessel diameter GO:0097755 9.56 GJA1 GJA5
9 decidualization GO:0046697 9.54 GJA1 GJB2
10 embryonic heart tube development GO:0035050 9.52 GJA1 GJA5
11 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.51 GJA1 GJA5
12 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.49 GJA1 GJA5
13 regulation of atrial cardiac muscle cell membrane depolarization GO:0060371 9.48 GJA1 GJA5
14 regulation of ventricular cardiac muscle cell membrane depolarization GO:0060373 9.46 GJA1 GJA5
15 endothelium development GO:0003158 9.43 GJA1 GJA5
16 epididymis development GO:1905867 9.4 GJA1 GJB2
17 cell communication by chemical coupling GO:0010643 9.37 GJA1 GJA5
18 gap junction assembly GO:0016264 9.33 GJA1 GJA5 GJB2
19 atrial ventricular junction remodeling GO:0003294 9.32 GJA1 GJA5
20 positive regulation of cell communication by chemical coupling GO:0010652 9.26 GJA1 GJA5
21 cell communication by electrical coupling GO:0010644 9.13 GJA1 GJA5 GJC2
22 cell communication GO:0007154 9.02 GJA1 GJA5 GJB2 GJB4 GJC2

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 9.32 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 involved in cell communication by electrical coupling GO:1903763 8.96 GJA1 GJC2
5 gap junction channel activity GO:0005243 8.92 GJA1 GJA5 GJB2 GJC2

Sources for Oculodentodigital Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....