ODDD
MCID: OCL013
MIFTS: 58

Oculodentodigital Dysplasia (ODDD)

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

Aliases & Classifications for Oculodentodigital Dysplasia

MalaCards integrated aliases for Oculodentodigital Dysplasia:

Name: Oculodentodigital Dysplasia 58 12 54 26 60 76 38 30 13 56 6 45 15 41
Odd Syndrome 58 12 54 26 76
Oculodentoosseous Dysplasia 58 26 60 76
Oddd 58 54 26 76
Oculo-Dento-Digital Dysplasia 54 26 76
Oculodentodigital Syndrome 54 26 76
Odod 58 26 76
Oculo-Dento-Digital Syndrome 54 76
Oculodentodigital Dysplasia Syndrome 56
Oculodentoosseous Dysplasia; Odod 58
Osseous-Oculo-Dental Dysplasia 26
Oculo Dento Digital Dysplasia 77
Oculo-Dento-Osseous Dysplasia 26
Meyer-Schwickerath Syndrome 60
Oddd Syndrome 60
Odds 76

Characteristics:

Orphanet epidemiological data:

60
oculodentodigital dysplasia
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

58
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:

33
oculodentodigital dysplasia:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Oculodentodigital Dysplasia

OMIM : 58 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 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, heart and skin, and related phenotypes are finger syndactyly and carious teeth

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

Genetics Home Reference : 26 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 : 54 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. 

UniProtKB/Swiss-Prot : 76 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 : 77 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 top 50) (show all 328)
# Related Disease Score Top Affiliating Genes
1 hallermann-streiff syndrome 30.1 GJA1 GJC2
2 keratosis 30.0 GJA1 GJB2
3 palmoplantar keratosis 29.9 GJB2 LOR
4 erythrokeratodermia variabilis et progressiva 1 29.3 GJA1 GJB2 GJB4 LOR
5 skin disease 28.6 GJA1 GJB2 GJB4 LOR
6 oculodentodigital dysplasia, autosomal recessive 12.6
7 oculodentoosseous dysplasia recessive 12.2
8 oculodentodigital dysplasia dominant 12.2
9 teeth, odd shapes of 12.1
10 syndactyly, type iii 11.6
11 fraser syndrome 1 11.5
12 oppositional defiant disorder 11.4
13 trichodentoosseous syndrome 11.3
14 scalp-ear-nipple syndrome 11.3
15 pseudopapilledema 11.2
16 schizotypal personality disorder 11.2
17 ego-dystonic sexual orientation 11.2
18 optic disk drusen 11.2
19 dysgraphia 11.0
20 delusional disorder 11.0
21 visual snow syndrome 11.0
22 cerebral atrophy 11.0
23 colorectal adenoma 10.6
24 chromosome 2q35 duplication syndrome 10.4
25 persistent hyperplastic primary vitreous 10.4
26 bowenoid papulosis 10.2
27 hypertelorism 10.2
28 heart disease 10.2
29 polycystic kidney disease 10.2
30 hypotrichosis-deafness syndrome 10.1 GJB2 GJB4
31 deafness, autosomal dominant 3a 10.1 GJB2 GJB4
32 kid syndrome 10.1 GJB2 GJB4
33 myocardial infarction 10.1
34 pelizaeus-merzbacher-like disease 10.1 GJA1 GJC2
35 deafness, autosomal recessive 1a 10.1 GJB2 GJB4
36 hypomyelinating leukoencephalopathy 10.1 GJA1 GJC2
37 first-degree atrioventricular block 10.1 GJA5 GJC1
38 mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma 10.1 GJB2 GJB4
39 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
40 erythrokeratodermia variabilis et progressiva 3 10.0
41 dilated cardiomyopathy 10.0
42 lymphedema 10.0
43 hypomyelinating leukodystrophy 10.0
44 leukodystrophy 10.0
45 microphthalmia 10.0
46 gastroparesis 10.0
47 diarrhea 10.0
48 dysostosis 10.0
49 paraplegia 10.0
50 cleft lip 10.0

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



Diseases related to Oculodentodigital Dysplasia

Symptoms & Phenotypes for Oculodentodigital Dysplasia

Human phenotypes related to Oculodentodigital Dysplasia:

60 33 (show top 50) (show all 114)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 finger syndactyly 60 33 hallmark (90%) Very frequent (99-80%) HP:0006101
2 carious teeth 60 33 hallmark (90%) Very frequent (99-80%) HP:0000670
3 cleft palate 60 33 hallmark (90%) Very frequent (99-80%) HP:0000175
4 underdeveloped nasal alae 60 33 hallmark (90%) Very frequent (99-80%) HP:0000430
5 clinodactyly of the 5th finger 60 33 hallmark (90%) Very frequent (99-80%) HP:0004209
6 abnormality of dental enamel 60 33 hallmark (90%) Very frequent (99-80%) HP:0000682
7 reduced number of teeth 60 33 hallmark (90%) Very frequent (99-80%) HP:0009804
8 narrow nasal bridge 60 33 hallmark (90%) Very frequent (99-80%) HP:0000446
9 toe syndactyly 60 33 hallmark (90%) Very frequent (99-80%) HP:0001770
10 microcornea 60 33 hallmark (90%) Very frequent (99-80%) HP:0000482
11 broad columella 60 33 hallmark (90%) Very frequent (99-80%) HP:0010761
12 premature loss of primary teeth 60 33 hallmark (90%) Very frequent (99-80%) HP:0006323
13 hypertelorism 60 33 frequent (33%) Frequent (79-30%) HP:0000316
14 seizures 60 33 frequent (33%) Frequent (79-30%) HP:0001250
15 ataxia 60 33 frequent (33%) Frequent (79-30%) HP:0001251
16 dysarthria 60 33 frequent (33%) Frequent (79-30%) HP:0001260
17 gait disturbance 60 33 frequent (33%) Frequent (79-30%) HP:0001288
18 muscle weakness 60 33 frequent (33%) Frequent (79-30%) HP:0001324
19 hyperreflexia 60 33 frequent (33%) Frequent (79-30%) HP:0001347
20 cerebral calcification 60 33 frequent (33%) Frequent (79-30%) HP:0002514
21 mandibular prognathia 60 33 frequent (33%) Frequent (79-30%) HP:0000303
22 cataract 60 33 frequent (33%) Frequent (79-30%) HP:0000518
23 abnormal cortical bone morphology 60 33 frequent (33%) Frequent (79-30%) HP:0003103
24 short nose 60 33 frequent (33%) Frequent (79-30%) HP:0003196
25 visual impairment 60 33 frequent (33%) Frequent (79-30%) HP:0000505
26 optic atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0000648
27 abnormality of the metaphysis 60 33 frequent (33%) Frequent (79-30%) HP:0000944
28 broad alveolar ridges 60 33 frequent (33%) Frequent (79-30%) HP:0000187
29 myopia 60 33 frequent (33%) Frequent (79-30%) HP:0000545
30 external ear malformation 60 33 frequent (33%) Frequent (79-30%) HP:0008572
31 aplasia/hypoplasia of the cerebellum 60 33 frequent (33%) Frequent (79-30%) HP:0007360
32 glaucoma 60 33 frequent (33%) Frequent (79-30%) HP:0000501
33 conductive hearing impairment 60 33 frequent (33%) Frequent (79-30%) HP:0000405
34 hypotrichosis 60 33 frequent (33%) Frequent (79-30%) HP:0001006
35 high forehead 60 33 frequent (33%) Frequent (79-30%) HP:0000348
36 curly hair 60 33 frequent (33%) Frequent (79-30%) HP:0002212
37 hypotelorism 60 33 frequent (33%) Frequent (79-30%) HP:0000601
38 camptodactyly of finger 60 33 frequent (33%) Frequent (79-30%) HP:0100490
39 mild global developmental delay 60 33 frequent (33%) Frequent (79-30%) HP:0011342
40 median cleft lip 60 33 frequent (33%) Frequent (79-30%) HP:0000161
41 slow-growing hair 60 33 frequent (33%) Frequent (79-30%) HP:0002217
42 cranial hyperostosis 60 33 frequent (33%) Frequent (79-30%) HP:0004437
43 neurogenic bladder 60 33 occasional (7.5%) Frequent (79-30%) HP:0000011
44 spastic paraparesis 60 33 frequent (33%) Frequent (79-30%) HP:0002313
45 aplasia/hypoplasia of the middle phalanges of the hand 60 33 frequent (33%) Frequent (79-30%) HP:0009843
46 thin anteverted nares 60 33 frequent (33%) Frequent (79-30%) HP:0004495
47 high hypermetropia 33 frequent (33%) HP:0008499
48 abnormal fingernail morphology 33 frequent (33%) HP:0001231
49 nystagmus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000639
50 intellectual disability 60 33 occasional (7.5%) Occasional (29-5%) HP:0001249

Symptoms via clinical synopsis from OMIM:

58
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 columella

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
hyperactive deep tendon reflexes
more
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

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

27
# 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:

47
# 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 30 GJA1

Anatomical Context for Oculodentodigital Dysplasia

MalaCards organs/tissues related to Oculodentodigital Dysplasia:

42
Eye, Heart, Skin, Liver, Testes, Bone, Kidney

Publications for Oculodentodigital Dysplasia

Articles related to Oculodentodigital Dysplasia:

(show top 50) (show all 109)
# Title Authors Year
1
Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement. ( 31048294 )
2019
2
Clinical Characteristics of Autosomal Dominant GJA1 Missense Mutation Linked to Oculodentodigital Dysplasia in a Korean Family. ( 30628995 )
2019
3
Novel ocular findings in oculodentodigital dysplasia (ODDD): a case report and literature review. ( 30767687 )
2019
4
A rare symptom of a very rare disease: a case report of a oculodentodigital dysplasia with lymphedema. ( 29624507 )
2018
5
Relative anterior microphthalmos in oculodentodigital dysplasia. ( 29380799 )
2018
6
Mice harbouring an oculodentodigital dysplasia-linked Cx43 G60S mutation have severe hearing loss. ( 29618634 )
2018
7
Autosomal Recessive Oculodentodigital Dysplasia: A Case Report and Review of the Literature. ( 29902798 )
2018
8
Oculodentodigital Dysplasia with a Novel Mutation in GJA1 Diagnosed by Targeted Gene Panel Sequencing: A Case Report and Literature Review. ( 30610049 )
2018
9
A novel GJA1 mutation in oculodentodigital dysplasia with extensive loss of enamel. ( 28258662 )
2017
10
Oculodentodigital Dysplasia Presenting as Spastic Paraparesis: The First Genetically Confirmed Korean Case and a Literature Review. ( 28950687 )
2017
11
A novel GJA1 mutation causing familial oculodentodigital dysplasia with dilated cardiomyopathy and arrhythmia. ( 28491627 )
2016
12
Oculodentodigital dysplasia with massive brain calcification and a new mutation of GJA1 gene. ( 26444782 )
2016
13
Case report: imaging and treatment of ophthalmic manifestations in oculodentodigital dysplasia. ( 26743931 )
2016
14
Oculodentodigital dysplasia. ( 27146935 )
2016
15
Specific functional pathologies of Cx43 mutations associated with oculodentodigital dysplasia. ( 27226478 )
2016
16
Dominant De Novo Mutations in GJA1 Cause Erythrokeratodermia Variabilis et Progressiva, without Features of Oculodentodigital Dysplasia. ( 25398053 )
2015
17
Missense and deletion mutations in GJA1 causing oculodentodigital dysplasia in two Indian families. ( 26087145 )
2015
18
Manipulating Cx43 expression triggers gene reprogramming events in dermal fibroblasts from oculodentodigital dysplasia patients. ( 26349540 )
2015
19
Palmoplantar keratosis in oculodentodigital dysplasia with a GJA1 point mutation out of the C-terminal region of connexin 43. ( 25388818 )
2014
20
Myogenic bladder defects in mouse models of human oculodentodigital dysplasia. ( 24228978 )
2014
21
Maxillo-facial radiology case 118. Oculodentodigital dysplasia. ( 24974522 )
2014
22
Clinical manifestations of oculodentodigital dysplasia. ( 25231047 )
2014
23
Japanese case of oculodentodigital dysplasia caused by a mutation in the GJA1 gene. ( 25327171 )
2014
24
Congenital heart defects in oculodentodigital dysplasia: Report of two cases. ( 24115525 )
2013
25
Neurological manifestations of oculodentodigital dysplasia: a Cx43 channelopathy of the central nervous system? ( 24133447 )
2013
26
Autosomal recessive GJA1 (Cx43) gene mutations cause oculodentodigital dysplasia by distinct mechanisms. ( 23606748 )
2013
27
Cerebral ischemic injury is enhanced in a model of oculodentodigital dysplasia. ( 23727526 )
2013
28
A novel mutation in GJA1 causing oculodentodigital syndrome and primary lymphoedema in a three generation family. ( 23550541 )
2013
29
Cleft lip in oculodentodigital dysplasia suggests novel roles for connexin43. ( 22699666 )
2012
30
A novel GJA1 mutation in oculodentodigital dysplasia with progressive spastic paraplegia and sensory deficits. ( 22214631 )
2012
31
Characterization of gap junction proteins in the bladder of Cx43 mutant mouse models of oculodentodigital dysplasia. ( 22752022 )
2012
32
Structure and functional studies of N-terminal Cx43 mutants linked to oculodentodigital dysplasia. ( 22809623 )
2012
33
Teaching neuroimages: oculodentodigital dysplasia: hypomyelination and syndactyly. ( 23071171 )
2012
34
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
35
Atrial tachycardia/fibrillation in the connexin 43 G60S mutant (Oculodentodigital dysplasia) mouse. ( 21239638 )
2011
36
Ocular pathology relevant to glaucoma in a Gja1(Jrt/+) mouse model of human oculodentodigital dysplasia. ( 21273537 )
2011
37
Human dermal fibroblasts derived from oculodentodigital dysplasia patients suggest that patients may have wound-healing defects. ( 21305658 )
2011
38
Oculodentodigital dysplasia: new ocular findings and a novel connexin 43 mutation. ( 21670345 )
2011
39
The G60S connexin43 mutant regulates hair growth and hair fiber morphology in a mouse model of human oculodentodigital dysplasia. ( 21716323 )
2011
40
Male reproductive system defects and subfertility in a mutant mouse model of oculodentodigital dysplasia. ( 22004529 )
2011
41
Oculodentodigital dysplasia: ulnar-sided syndactyly and its associated disorders. ( 22036282 )
2011
42
[Hereditary glaucoma associated with oculodentodigital dysplasia]. ( 21893263 )
2011
43
Dental management of oculodentodigital dysplasia: a case report. ( 20587963 )
2010
44
A severe progressive oculodentodigital dysplasia due to compound heterozygous GJA1 mutation. ( 20597923 )
2010
45
Ocular manifestations in oculodentodigital dysplasia resulting from a heterozygous missense mutation (L113P) in GJA1 (connexin 43). ( 18425059 )
2009
46
Oogenesis defects in a mutant mouse model of oculodentodigital dysplasia. ( 19259389 )
2009
47
GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype. ( 19338053 )
2009
48
A novel GJA1 missense mutation in a Polish child with oculodentodigital dysplasia. ( 19638688 )
2009
49
Oculodentodigital dysplasia: disease spectrum in an eight-year-old boy, his parents and a sibling. ( 19725242 )
2009
50
A case of oculodentodigital dysplasia syndrome with novel GJA1 gene mutation. ( 19847613 )
2009

Variations for Oculodentodigital Dysplasia

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

76 (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 rs105751887
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 104)
# Gene Variation Type Significance SNP ID Assembly Location
1 GJA1 NM_000165.5(GJA1): c.50A> C (p.Tyr17Ser) single nucleotide variant Pathogenic rs104893961 GRCh37 Chromosome 6, 121768043: 121768043
2 GJA1 NM_000165.5(GJA1): c.50A> C (p.Tyr17Ser) single nucleotide variant Pathogenic rs104893961 GRCh38 Chromosome 6, 121446897: 121446897
3 GJA1 NM_000165.5(GJA1): c.52T> C (p.Ser18Pro) single nucleotide variant Pathogenic rs104893962 GRCh37 Chromosome 6, 121768045: 121768045
4 GJA1 NM_000165.5(GJA1): c.52T> C (p.Ser18Pro) single nucleotide variant Pathogenic rs104893962 GRCh38 Chromosome 6, 121446899: 121446899
5 GJA1 NM_000165.5(GJA1): c.61G> A (p.Gly21Arg) single nucleotide variant Pathogenic rs104893963 GRCh37 Chromosome 6, 121768054: 121768054
6 GJA1 NM_000165.5(GJA1): c.61G> A (p.Gly21Arg) single nucleotide variant Pathogenic rs104893963 GRCh38 Chromosome 6, 121446908: 121446908
7 GJA1 NM_000165.5(GJA1): c.65G> A (p.Gly22Glu) single nucleotide variant Uncertain significance rs104893964 GRCh37 Chromosome 6, 121768058: 121768058
8 GJA1 NM_000165.5(GJA1): c.65G> A (p.Gly22Glu) single nucleotide variant Uncertain significance rs104893964 GRCh38 Chromosome 6, 121446912: 121446912
9 GJA1 GJA1, 3-BP DUP, 154TTT duplication Pathogenic
10 GJA1 NM_000165.5(GJA1): c.286G> A (p.Val96Met) single nucleotide variant Pathogenic rs28931601 GRCh37 Chromosome 6, 121768279: 121768279
11 GJA1 NM_000165.5(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_000165.5(GJA1): c.581A> C (p.His194Pro) single nucleotide variant Pathogenic rs104893966 GRCh37 Chromosome 6, 121768574: 121768574
14 GJA1 NM_000165.5(GJA1): c.581A> C (p.His194Pro) single nucleotide variant Pathogenic rs104893966 GRCh38 Chromosome 6, 121447428: 121447428
15 GJA1 NM_000165.5(GJA1): c.32T> C (p.Leu11Pro) single nucleotide variant Pathogenic rs121912969 GRCh37 Chromosome 6, 121768025: 121768025
16 GJA1 NM_000165.5(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_000165.5(GJA1): c.226C> A (p.Arg76Ser) single nucleotide variant Likely pathogenic rs267606845 GRCh37 Chromosome 6, 121768219: 121768219
19 GJA1 NM_000165.5(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_000165.5(GJA1): c.31C> T (p.Leu11Phe) single nucleotide variant Pathogenic rs387906616 GRCh37 Chromosome 6, 121768024: 121768024
22 GJA1 NM_000165.5(GJA1): c.31C> T (p.Leu11Phe) single nucleotide variant Pathogenic rs387906616 GRCh38 Chromosome 6, 121446878: 121446878
23 GJA1 NM_000165.5(GJA1): c.617A> G (p.Lys206Arg) single nucleotide variant Pathogenic rs397518464 GRCh37 Chromosome 6, 121768610: 121768610
24 GJA1 NM_000165.5(GJA1): c.617A> G (p.Lys206Arg) single nucleotide variant Pathogenic rs397518464 GRCh38 Chromosome 6, 121447464: 121447464
25 GJA1 NM_000165.5(GJA1): c.717G> A (p.Arg239=) single nucleotide variant Benign/Likely benign rs57946868 GRCh37 Chromosome 6, 121768710: 121768710
26 GJA1 NM_000165.5(GJA1): c.717G> A (p.Arg239=) single nucleotide variant Benign/Likely benign rs57946868 GRCh38 Chromosome 6, 121447564: 121447564
27 GJA1 NM_000165.5(GJA1): c.758C> T (p.Ala253Val) single nucleotide variant Benign/Likely benign rs17653265 GRCh37 Chromosome 6, 121768751: 121768751
28 GJA1 NM_000165.5(GJA1): c.758C> T (p.Ala253Val) single nucleotide variant Benign/Likely benign rs17653265 GRCh38 Chromosome 6, 121447605: 121447605
29 GJA1 NM_000165.5(GJA1): c.*3dup duplication Benign rs397824185 GRCh37 Chromosome 6, 121769145: 121769145
30 GJA1 NM_000165.5(GJA1): c.*3dup duplication Benign rs397824185 GRCh38 Chromosome 6, 121447999: 121447999
31 GJA1 NM_000165.5(GJA1): c.-135C> T single nucleotide variant Likely benign rs539558089 GRCh37 Chromosome 6, 121756860: 121756860
32 GJA1 NM_000165.5(GJA1): c.-135C> T single nucleotide variant Likely benign rs539558089 GRCh38 Chromosome 6, 121435714: 121435714
33 GJA1 NM_000165.5(GJA1): c.-67C> G single nucleotide variant Likely benign rs111581053 GRCh37 Chromosome 6, 121756928: 121756928
34 GJA1 NM_000165.5(GJA1): c.-67C> G single nucleotide variant Likely benign rs111581053 GRCh38 Chromosome 6, 121435782: 121435782
35 GJA1 NM_000165.5(GJA1): c.*47A> G single nucleotide variant Uncertain significance rs886061010 GRCh38 Chromosome 6, 121448043: 121448043
36 GJA1 NM_000165.5(GJA1): c.*47A> G single nucleotide variant Uncertain significance rs886061010 GRCh37 Chromosome 6, 121769189: 121769189
37 GJA1 NM_000165.5(GJA1): c.*191G> A single nucleotide variant Uncertain significance rs886061012 GRCh38 Chromosome 6, 121448187: 121448187
38 GJA1 NM_000165.5(GJA1): c.*191G> A single nucleotide variant Uncertain significance rs886061012 GRCh37 Chromosome 6, 121769333: 121769333
39 GJA1 NM_000165.5(GJA1): c.*243A> G single nucleotide variant Likely benign rs139128953 GRCh38 Chromosome 6, 121448239: 121448239
40 GJA1 NM_000165.5(GJA1): c.*243A> G single nucleotide variant Likely benign rs139128953 GRCh37 Chromosome 6, 121769385: 121769385
41 GJA1 NM_000165.5(GJA1): c.*285A> T single nucleotide variant Likely benign rs72548748 GRCh38 Chromosome 6, 121448281: 121448281
42 GJA1 NM_000165.5(GJA1): c.-188G> T single nucleotide variant Uncertain significance rs886061008 GRCh37 Chromosome 6, 121756807: 121756807
43 GJA1 NM_000165.5(GJA1): c.-188G> T single nucleotide variant Uncertain significance rs886061008 GRCh38 Chromosome 6, 121435661: 121435661
44 GJA1 NM_000165.5(GJA1): c.270C> G (p.Leu90=) single nucleotide variant Uncertain significance rs886061009 GRCh38 Chromosome 6, 121447117: 121447117
45 GJA1 NM_000165.5(GJA1): c.270C> G (p.Leu90=) single nucleotide variant Uncertain significance rs886061009 GRCh37 Chromosome 6, 121768263: 121768263
46 GJA1 NM_000165.5(GJA1): c.456G> A (p.Leu152=) single nucleotide variant Likely benign rs72548741 GRCh38 Chromosome 6, 121447303: 121447303
47 GJA1 NM_000165.5(GJA1): c.456G> A (p.Leu152=) single nucleotide variant Likely benign rs72548741 GRCh37 Chromosome 6, 121768449: 121768449
48 GJA1 NM_000165.5(GJA1): c.*1733C> T single nucleotide variant Benign rs78394273 GRCh38 Chromosome 6, 121449729: 121449729
49 GJA1 NM_000165.5(GJA1): c.*1733C> T single nucleotide variant Benign rs78394273 GRCh37 Chromosome 6, 121770875: 121770875
50 GJA1 NM_000165.5(GJA1): c.646G> T (p.Val216Leu) single nucleotide variant Pathogenic rs1554201043 GRCh37 Chromosome 6, 121768639: 121768639

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:

# Name GO ID Score Top Affiliating Genes
1 cell junction GO:0030054 9.7 ESCO2 GJA1 GJA5 GJB2 GJB4 GJC1
2 intercalated disc GO:0014704 9.43 GJA1 GJA5 GJC1
3 gap junction GO:0005921 9.43 GJA1 GJA5 GJB2 GJB4 GJC1 GJC2
4 lateral plasma membrane GO:0016328 9.32 GJA1 GJB2
5 connexin complex GO:0005922 9.1 GJA1 GJA5 GJB2 GJB4 GJC1 GJC2

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

(show all 26)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.8 GJA1 GJA5 GJB2 GJC1 GJC2
2 heart development GO:0007507 9.79 GJA1 GJA5 GJC1
3 cell-cell signaling GO:0007267 9.78 GJA1 GJB2 GJC1 GJC2
4 protein complex oligomerization GO:0051259 9.63 GJA1 GJA5
5 response to retinoic acid GO:0032526 9.62 GJA1 GJB2
6 response to ischemia GO:0002931 9.62 GJA1 GJB2
7 positive regulation of vasoconstriction GO:0045907 9.61 GJA1 GJA5
8 positive regulation of blood vessel diameter GO:0097755 9.6 GJA1 GJA5
9 decidualization GO:0046697 9.59 GJA1 GJB2
10 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.58 GJA1 GJA5
11 embryonic heart tube development GO:0035050 9.58 GJA1 GJA5
12 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.57 GJA1 GJA5
13 cardiac conduction GO:0061337 9.56 GJA1 GJA5
14 regulation of atrial cardiac muscle cell membrane depolarization GO:0060371 9.55 GJA1 GJA5
15 atrial cardiac muscle cell action potential GO:0086014 9.54 GJA1 GJC1
16 regulation of ventricular cardiac muscle cell membrane depolarization GO:0060373 9.52 GJA1 GJA5
17 endothelium development GO:0003158 9.51 GJA1 GJA5
18 epididymis development GO:1905867 9.49 GJA1 GJB2
19 AV node cell to bundle of His cell communication by electrical coupling GO:0086053 9.46 GJA5 GJC1
20 cell communication by chemical coupling GO:0010643 9.43 GJA1 GJA5
21 atrial ventricular junction remodeling GO:0003294 9.37 GJA1 GJA5
22 cell communication by electrical coupling GO:0010644 9.33 GJA1 GJA5 GJC2
23 positive regulation of cell communication by chemical coupling GO:0010652 9.32 GJA1 GJA5
24 SA node cell to atrial cardiac muscle cell communication by electrical coupling GO:0086021 9.26 GJA5 GJC1
25 gap junction assembly GO:0016264 9.26 GJA1 GJA5 GJB2 GJC1
26 cell communication GO:0007154 9.1 GJA1 GJA5 GJB2 GJB4 GJC1 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 9.4 GJA1 GJA5
2 connexin binding GO:0071253 9.37 GJA1 GJA5
3 gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling GO:0086077 9.32 GJA5 GJC1
4 gap junction channel activity involved in cardiac conduction electrical coupling GO:0086075 9.26 GJA1 GJA5
5 gap junction channel activity involved in cell communication by electrical coupling GO:1903763 9.16 GJA1 GJC2
6 gap junction channel activity GO:0005243 9.02 GJA1 GJA5 GJB2 GJC1 GJC2
7 gap junction channel activity involved in SA node cell-atrial cardiac muscle cell electrical coupling GO:0086020 8.96 GJA5 GJC1

Sources for Oculodentodigital Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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