ODDD
MCID: OCL013
MIFTS: 67

Oculodentodigital Dysplasia (ODDD)

Categories: Bone diseases, Cardiovascular diseases, Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Oral diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Oculodentodigital Dysplasia

MalaCards integrated aliases for Oculodentodigital Dysplasia:

Name: Oculodentodigital Dysplasia 57 11 19 42 58 73 28 12 53 5 43 14 38 75
Odd Syndrome 57 11 19 42 73
Oculodentoosseous Dysplasia 57 42 58 73
Oculodentodigital Syndrome 19 42 75 73
Oddd 57 19 42 73
Oculo-Dento-Digital Dysplasia 19 42 73
Oculo-Dento-Digital Syndrome 19 75 73
Odod 57 42 73
Oculodentodigital Dysplasia Syndrome 53
Osseous-Oculo-Dental Dysplasia 42
Oculo-Dento-Osseous Dysplasia 42
Oculo Dento Digital Dysplasia 75
Meyer-Schwickerath Syndrome 58
Oddd Syndrome 58
Odds 73

Characteristics:


Inheritance:

Autosomal dominant,Autosomal recessive 58 , Autosomal dominant 57

Age Of Onset:

Infancy,Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
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


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare circulatory system diseases
Rare bone diseases
Rare skin diseases
Developmental anomalies during embryogenesis
Rare odontological diseases


Summaries for Oculodentodigital Dysplasia

MedlinePlus Genetics: 42 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.Less common features of oculodentodigital dysplasia include sparse hair growth (hypotrichosis), brittle nails, an unusual curvature of the fingers (camptodactyly), syndactyly of the toes, small head size (microcephaly), and an opening in the roof of the mouth (cleft palate). Some affected individuals experience neurological problems such as a lack of bladder or bowel control, difficulty coordinating movements (ataxia), abnormal muscle stiffness (spasticity), hearing loss, and impaired speech (dysarthria). A few people with oculodentodigital dysplasia also have a skin condition called palmoplantar keratoderma. Palmoplantar keratoderma causes the skin on the palms and the soles of the feet to become thick, scaly, and calloused.Some features of oculodentodigital dysplasia are evident at birth, while others become apparent with age.

MalaCards based summary: Oculodentodigital Dysplasia, also known as odd syndrome, is related to syndactyly, type iii and hypomyelinating leukodystrophy. 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 Gap junction trafficking. The drugs Ethanol and Nivolumab have been mentioned in the context of this disorder. Affiliated tissues include eye, skin and bone, and related phenotypes are carious teeth and cleft palate

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) (Updated 08-Dec-2022)

UniProtKB/Swiss-Prot: 73 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.

GARD: 19 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 genetic change 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.

Orphanet: 58 A rare congenital malformation syndrome characterized by craniofacial, ocular, dental, digital anomalies and neurologic symptoms.

Disease Ontology: 11 A syndrome characterized by craniofacial, neurologic, limb and ocular abnormalities.

Wikipedia: 75 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 790)
# Related Disease Score Top Affiliating Genes
1 syndactyly, type iii 30.7 GJC1 GJB3 GJA8 GJA1
2 hypomyelinating leukodystrophy 30.5 GJC2 GJB1 GJA1
3 palmoplantar keratosis 30.4 GJB4 GJB3 GJB2 GJA1
4 keratosis 30.2 GJB3 GJB2 GJA1
5 nonsyndromic hearing loss and deafness, dfnb1 30.1 GJB6 GJB3 GJB2
6 dfnb1 30.1 GJB6 GJB3 GJB2
7 deafness, autosomal recessive 1a 30.1 GJB6 GJB3 GJB2
8 ectodermal dysplasia 30.1 GJB6 GJB4 GJB3 GJB2 GJA1
9 drug-induced hearing loss 29.8 GJB3 GJB2
10 skin disease 29.6 GJB6 GJB4 GJB3 GJB2 GJA1
11 hallermann-streiff syndrome 29.4 GJC3 GJC2 GJC1 GJB1 GJA4 GJA3
12 brugada syndrome 29.1 GJD3 GJC1 GJA5 GJA1
13 erythrokeratodermia variabilis et progressiva 1 27.2 GJD2 GJC3 GJC2 GJC1 GJB6 GJB5
14 oculodentodigital dysplasia, autosomal recessive 11.6
15 oculodentodigital dysplasia dominant 11.3
16 ego-dystonic sexual orientation 11.1
17 oculodentoosseous dysplasia recessive 11.1
18 chromosome 2q35 duplication syndrome 10.7
19 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.7
20 microphthalmia 10.5
21 cleidocranial dysplasia 1 10.4
22 hereditary spastic paraplegia 10.3
23 spastic paraparesis 10.3
24 hair morphology 2 10.3
25 intraocular pressure quantitative trait locus 10.3
26 colorectal cancer 10.3
27 masa syndrome 10.3
28 ainhum 10.3 GJB4 GJB2
29 congenital cytomegalovirus 10.3 GJB6 GJB2
30 deafness, autosomal dominant 2b 10.3 GJB3 GJB2
31 cataract 30, multiple types 10.3 GJA8 GJA3
32 viral labyrinthitis 10.2 GJB6 GJB2
33 labyrinthitis 10.2 GJB6 GJB2
34 purulent labyrinthitis 10.2 GJB6 GJB2
35 deafness, autosomal dominant 59 10.2 GJB6 GJB2
36 deafness, autosomal recessive 91 10.2 GJB3 GJB2
37 deafness, autosomal dominant 3a 10.2 GJB3 GJB2
38 cataract 14, multiple types 10.2 GJA8 GJA3
39 deafness, autosomal dominant 6 10.2 GJB6 GJB2
40 petroclival meningioma 10.2 GJB6 GJB2
41 body mass index quantitative trait locus 1 10.2
42 deafness, autosomal dominant 12 10.2 GJB6 GJB2
43 early-onset nuclear cataract 10.2 GJA8 GJA3
44 deafness, autosomal dominant 64 10.2 GJB6 GJB2
45 third-degree atrioventricular block 10.2 GJC1 GJA5 GJA1
46 atrioventricular block 10.2 GJC1 GJA5 GJA1
47 persistent hyperplastic primary vitreous 10.2
48 abdominal obesity-metabolic syndrome 1 10.2
49 major depressive disorder 10.2
50 balo concentric sclerosis 10.2 GJC2 GJB1 GJA1

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:

58 30 (show top 50) (show all 115)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 carious teeth 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000670
2 cleft palate 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000175
3 clinodactyly of the 5th finger 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0004209
4 finger syndactyly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0006101
5 narrow nasal bridge 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000446
6 microcornea 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000482
7 toe syndactyly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001770
8 underdeveloped nasal alae 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000430
9 broad columella 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0010761
10 premature loss of primary teeth 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0006323
11 tooth agenesis 30 Hallmark (90%) HP:0009804
12 abnormal dental enamel morphology 30 Hallmark (90%) HP:0000682
13 seizure 58 30 Frequent (33%) Frequent (79-30%)
HP:0001250
14 hyperreflexia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001347
15 ataxia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001251
16 dysarthria 58 30 Frequent (33%) Frequent (79-30%)
HP:0001260
17 gait disturbance 58 30 Frequent (33%) Frequent (79-30%)
HP:0001288
18 cerebral calcification 58 30 Frequent (33%) Frequent (79-30%)
HP:0002514
19 muscle weakness 58 30 Frequent (33%) Frequent (79-30%)
HP:0001324
20 cataract 58 30 Frequent (33%) Frequent (79-30%)
HP:0000518
21 hypertelorism 58 30 Frequent (33%) Frequent (79-30%)
HP:0000316
22 mandibular prognathia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000303
23 abnormal cortical bone morphology 58 30 Frequent (33%) Frequent (79-30%)
HP:0003103
24 short nose 58 30 Frequent (33%) Frequent (79-30%)
HP:0003196
25 visual impairment 58 30 Frequent (33%) Frequent (79-30%)
HP:0000505
26 optic atrophy 58 30 Frequent (33%) Frequent (79-30%)
HP:0000648
27 myopia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000545
28 abnormal fingernail morphology 58 30 Frequent (33%) Frequent (79-30%)
HP:0001231
29 external ear malformation 58 30 Frequent (33%) Frequent (79-30%)
HP:0008572
30 glaucoma 58 30 Frequent (33%) Frequent (79-30%)
HP:0000501
31 conductive hearing impairment 58 30 Frequent (33%) Frequent (79-30%)
HP:0000405
32 aplasia/hypoplasia of the cerebellum 58 30 Frequent (33%) Frequent (79-30%)
HP:0007360
33 high forehead 58 30 Frequent (33%) Frequent (79-30%)
HP:0000348
34 high hypermetropia 58 30 Frequent (33%) Frequent (79-30%)
HP:0008499
35 hypotelorism 58 30 Frequent (33%) Frequent (79-30%)
HP:0000601
36 camptodactyly of finger 58 30 Frequent (33%) Frequent (79-30%)
HP:0100490
37 median cleft lip 58 30 Frequent (33%) Frequent (79-30%)
HP:0000161
38 mild global developmental delay 58 30 Frequent (33%) Frequent (79-30%)
HP:0011342
39 spastic paraparesis 58 30 Frequent (33%) Frequent (79-30%)
HP:0002313
40 cranial hyperostosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0004437
41 slow-growing hair 58 30 Frequent (33%) Frequent (79-30%)
HP:0002217
42 broad alveolar ridges 58 30 Frequent (33%) Frequent (79-30%)
HP:0000187
43 neurogenic bladder 58 30 Occasional (7.5%) Frequent (79-30%)
HP:0000011
44 curly hair 58 30 Frequent (33%) Frequent (79-30%)
HP:0002212
45 thin anteverted nares 58 30 Frequent (33%) Frequent (79-30%)
HP:0004495
46 aplasia/hypoplasia of the middle phalanges of the hand 58 30 Frequent (33%) Frequent (79-30%)
HP:0009843
47 sparse hair 30 Frequent (33%) HP:0008070
48 abnormal metaphysis morphology 30 Frequent (33%) HP:0000944
49 intellectual disability 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001249
50 nystagmus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000639

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Neurologic Central Nervous System:
spasticity
ataxia
dysarthria
hyperactive deep tendon reflexes
paraparesis
more
Head And Neck Head:
microcephaly

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

Skeletal Pelvis:
hip dislocation

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

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 Feet:
syndactyly of 3rd - 4th toes

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

Head And Neck Eyes:
cataract
glaucoma
microphthalmia
microcornea
epicanthal folds
more
Head And Neck Teeth:
microdontia
premature loss of teeth
selective tooth agenesis
enamel hypoplasia
taurodontism (reported in 1 patient)
more
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

Skeletal Spine:
vertebral hyperostosis

Skin Nails Hair Nails:
brittle nails

Abdomen Gastrointestinal:
bowel dysfunction (in some cases)

Skeletal Skull:
skull 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 (Updated 08-Dec-2022)

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.15 GJA1 GJA3 GJA4 GJA5 GJA8 GJB1
2 no effect GR00402-S-2 10.15 GJA1 GJA5 GJA8 GJB3 GJB4 GJB5

MGI Mouse Phenotypes related to Oculodentodigital Dysplasia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.11 GJA1 GJB1 GJB2 GJB6 GJC1 GJC2
2 no phenotypic analysis MP:0003012 10.01 GJA1 GJA5 GJB2 GJB3 GJB6 GJC1
3 cardiovascular system MP:0005385 9.96 GJA1 GJA4 GJA5 GJB2 GJB3 GJB6
4 immune system MP:0005387 9.9 GJA1 GJA5 GJB1 GJB2 GJB4 GJB6
5 hearing/vestibular/ear MP:0005377 9.8 GJA1 GJB2 GJB3 GJB6 GJC3 PANX1
6 vision/eye MP:0005391 9.65 GJA1 GJA3 GJA8 GJB1 GJB2 GJC1
7 hematopoietic system MP:0005397 9.36 GJA1 GJA5 GJB1 GJB3 GJB4 GJC1

Drugs & Therapeutics for Oculodentodigital Dysplasia

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ethanol Approved 64-17-5 702
2
Nivolumab Approved 946414-94-4
3
Pembrolizumab Approved 1374853-91-4 254741536

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 STRONG for Surgery & Strong for Life - Against All Odds: Intensive Prehabilitation Including Smoking, Nutrition, Alcohol and Physical Activity for Risk Reduction in Cancer Surgery Recruiting NCT04088968
2 BLood Groups as Biomarker to Optimize Odds of Response to Anti-PD-1 Drugs (BLOOD Trial) Terminated NCT04473027

Search 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

Organs/tissues related to Oculodentodigital Dysplasia:

MalaCards : Eye, Skin, Bone, Heart, Breast, Kidney, Lymph Node

Publications for Oculodentodigital Dysplasia

Articles related to Oculodentodigital Dysplasia:

(show top 50) (show all 30255)
# Title Authors PMID Year
1
A novel GJA1 mutation causes oculodentodigital dysplasia without syndactyly. 53 62 57 5
15637728 2005
2
Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia. 53 62 57 5
12457340 2003
3
A novel mutation in GJA1 causing oculodentodigital syndrome and primary lymphoedema in a three generation family. 62 57 5
23550541 2013
4
Oculodentodigital dysplasia: new ocular findings and a novel connexin 43 mutation. 62 57 5
21670345 2011
5
Skin changes in oculo-dento-digital dysplasia are correlated with C-terminal truncations of connexin 43. 62 57 5
17256797 2007
6
A novel GJA 1 mutation in oculo-dento-digital dysplasia with curly hair and hyperkeratosis. 62 57 5
16709485 2006
7
A 2-bp deletion in the GJA1 gene is associated with oculo-dento-digital dysplasia with palmoplantar keratoderma. 62 57 5
15551259 2005
8
Novel Connexin 43 (GJA1) mutation causes oculo-dento-digital dysplasia with curly hair. 62 57 5
15108203 2004
9
Oculodentodigital dysplasia. Four new reports and a literature review. 62 57 5
220941 1979
10
Autosomal dominant simple microphthalmos. 57 5
7815444 1994
11
GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype. 53 62 57
19338053 2009
12
A novel GJA1 missense mutation in a Polish child with oculodentodigital dysplasia. 53 62 5
19638688 2009
13
Gap junction remodeling and cardiac arrhythmogenesis in a murine model of oculodentodigital dysplasia. 53 62 57
18077386 2007
14
Neurological manifestations of oculodentodigital dysplasia: a Cx43 channelopathy of the central nervous system? 62 57
24133447 2013
15
Ocular pathology relevant to glaucoma in a Gja1(Jrt/+) mouse model of human oculodentodigital dysplasia. 62 57
21273537 2011
16
Report of a black South African child with oculodentodigital dysplasia and a novel GJA1 gene mutation. 62 57
18412120 2008
17
Neurological manifestations of the oculodentodigital dysplasia syndrome. 62 57
12021949 2002
18
Oculo-dento-digital dysplasia (OMIM *164200). Full manifestation of the syndrome in a 9.5 year-old girl and type III syndactyly in the father. 62 57
12150221 2002
19
Linkage analysis narrows the critical region for oculodentodigital dysplasia to chromosome 6q22-q23. 62 5
10331943 1999
20
Localization of a gene for oculodentodigital syndrome to human chromosome 6q22-q24. 62 57
9002680 1997
21
Central nervous system abnormalities in oculodentodigital dysplasia. 62 57
8897047 1996
22
Oculodentodigital dysplasia with cerebral white matter abnormalities in a two-generation family. 62 57
7677152 1995
23
Type III syndactyly and oculodentodigital dysplasia: a clinical spectrum. 62 57
8110413 1993
24
Oculodentodigital dysplasia syndrome associated with abnormal cerebral white matter. 62 57
1659191 1991
25
Oculodentodigital dysplasia and type III syndactyly: separate genetic entities or disease spectrum? 62 57
2157843 1990
26
Glaucoma in oculo-dento-osseous dysplasia. 62 5
2309863 1990
27
Three new cases of oculodentodigital (ODD) syndrome: development of the facial phenotype. 62 57
3935793 1985
28
Intracranial calcification in oculodento-osseous dysplasia. 62 57
6262936 1981
29
The question of hypertelorism in oculodentoosseous dysplasia. 62 57
6794368 1981
30
Oculodentodigital dysplasia syndrome. Report of four cases. 62 57
197779 1977
31
A family with oculodentodigital dysplasia. 62 5
1057461 1975
32
Oculodentodigital dysplasia. Picture of the month. 62 5
4209752 1974
33
Oculodentodigital dysplasia. 62 57
5820606 1969
34
The oculo-dento-digital dysplasia syndrome. 62 57
4957134 1966
35
Oculodentodigital dysplasia. 62 57
13949300 1963
36
Hereditary spastic paraplegia with neurogenic bladder disturbances and syndactylia. 57
6249060 1980
37
Older paternal age and fresh gene mutation: data on additional disorders. 57
1110452 1975
38
A HEREDITARY SYNDROME: "DYSPLASIA OCULODENTODIGITALIS. 57
14089388 1964
39
The Holmes-Adie syndrome in a body with acute juvenile rheumatism and bilateral syndactyly. 57
13930991 1963
40
Familial metaphysial dysplasia. 57
13513655 1958
41
A case of oculodentodigital dysplasia syndrome with novel GJA1 gene mutation. 53 62
19847613 2009
42
Loss of connexin43-mediated gap junctional coupling in the mesenchyme of limb buds leads to altered expression of morphogens in mice. 53 62
19439426 2009
43
A dominant loss-of-function GJA1 (Cx43) mutant impairs parturition in the mouse. 53 62
19176884 2009
44
Oogenesis defects in a mutant mouse model of oculodentodigital dysplasia. 53 62
19259389 2009
45
Ocular manifestations in oculodentodigital dysplasia resulting from a heterozygous missense mutation (L113P) in GJA1 (connexin 43). 53 62
18425059 2009
46
Oculodentodigital dysplasia: disease spectrum in an eight-year-old boy, his parents and a sibling. 53 62
19725242 2009
47
ODDD-linked Cx43 mutants reduce endogenous Cx43 expression and function in osteoblasts and inhibit late stage differentiation. 53 62
18269311 2008
48
The conditional connexin43G138R mouse mutant represents a new model of hereditary oculodentodigital dysplasia in humans. 53 62
18003637 2008
49
Closing the gap on autosomal dominant connexin-26 and connexin-43 mutants linked to human disease. 53 62
18089569 2008
50
A new GJA1 (connexin 43) mutation causing oculodentodigital dysplasia associated to uncommon features. 53 62
18161618 2007

Variations for Oculodentodigital Dysplasia

ClinVar genetic disease variations for Oculodentodigital Dysplasia:

5 (show top 50) (show all 89)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GJA1 NM_000165.5(GJA1):c.50A>C (p.Tyr17Ser) SNV Pathogenic
16982 rs104893961 GRCh37: 6:121768043-121768043
GRCh38: 6:121446897-121446897
2 GJA1 NM_000165.5(GJA1):c.52T>C (p.Ser18Pro) SNV Pathogenic
16983 rs104893962 GRCh37: 6:121768045-121768045
GRCh38: 6:121446899-121446899
3 GJA1 NM_000165.5(GJA1):c.61G>A (p.Gly21Arg) SNV Pathogenic
16984 rs104893963 GRCh37: 6:121768054-121768054
GRCh38: 6:121446908-121446908
4 GJA1 NM_000165.5(GJA1):c.154_156dup (p.Phe52dup) DUP Pathogenic
16986 rs1582558097 GRCh37: 6:121768146-121768147
GRCh38: 6:121447000-121447001
5 GJA1 NM_000165.5(GJA1):c.286G>A (p.Val96Met) SNV Pathogenic
16988 rs28931601 GRCh37: 6:121768279-121768279
GRCh38: 6:121447133-121447133
6 GJA1 NM_000165.5(GJA1):c.780_781del (p.Cys260fs) MICROSAT Pathogenic
16989 rs1582558666 GRCh37: 6:121768771-121768772
GRCh38: 6:121447625-121447626
7 GJA1 NM_000165.5(GJA1):c.581A>C (p.His194Pro) SNV Pathogenic
16992 rs104893966 GRCh37: 6:121768574-121768574
GRCh38: 6:121447428-121447428
8 GJA1 NM_000165.5(GJA1):c.32T>C (p.Leu11Pro) SNV Pathogenic
16993 rs121912969 GRCh37: 6:121768025-121768025
GRCh38: 6:121446879-121446879
9 GJA1 NM_000165.5(GJA1):c.689_690del (p.Tyr230fs) DEL Pathogenic
16994 rs1582558514 GRCh37: 6:121768681-121768682
GRCh38: 6:121447535-121447536
10 GJA1 NM_000165.5(GJA1):c.31C>T (p.Leu11Phe) SNV Pathogenic
29668 rs387906616 GRCh37: 6:121768024-121768024
GRCh38: 6:121446878-121446878
11 GJA1 NM_000165.5(GJA1):c.617A>G (p.Lys206Arg) SNV Pathogenic
88726 rs397518464 GRCh37: 6:121768610-121768610
GRCh38: 6:121447464-121447464
12 GJA1 NM_000165.5(GJA1):c.93T>G (p.Ile31Met) SNV Pathogenic
989202 GRCh37: 6:121768086-121768086
GRCh38: 6:121446940-121446940
13 GJA1 NM_000165.5(GJA1):c.646G>T (p.Val216Leu) SNV Pathogenic
435325 rs1554201043 GRCh37: 6:121768639-121768639
GRCh38: 6:121447493-121447493
14 GJA1 NM_000165.5(GJA1):c.119C>T (p.Ala40Val) SNV Pathogenic
435323 rs1554200992 GRCh37: 6:121768112-121768112
GRCh38: 6:121446966-121446966
15 GJA1 NM_000165.5(GJA1):c.65G>A (p.Gly22Glu) SNV Pathogenic
16985 rs104893964 GRCh37: 6:121768058-121768058
GRCh38: 6:121446912-121446912
16 GJA1 NM_000165.5(GJA1):c.120_131del (p.Val41_Ala44del) DEL Pathogenic
576300 rs1562173999 GRCh37: 6:121768109-121768120
GRCh38: 6:121446963-121446974
17 GJA1 NM_000165.5(GJA1):c.142G>A (p.Glu48Lys) SNV Pathogenic
1028586 rs1773899790 GRCh37: 6:121768135-121768135
GRCh38: 6:121446989-121446989
18 GJA1 NM_000165.5(GJA1):c.602C>A (p.Ser201Tyr) SNV Likely Pathogenic
1184546 GRCh37: 6:121768595-121768595
GRCh38: 6:121447449-121447449
19 GJA1 NM_000165.5(GJA1):c.416T>A (p.Ile139Asn) SNV Likely Pathogenic
1320166 GRCh37: 6:121768409-121768409
GRCh38: 6:121447263-121447263
20 GJA1 NM_000165.5(GJA1):c.436_441del (p.Lys146_Met147del) DEL Likely Pathogenic
1330230 GRCh37: 6:121768427-121768432
GRCh38: 6:121447281-121447286
21 GJA1 NM_000165.5(GJA1):c.226C>A (p.Arg76Ser) SNV Likely Pathogenic
16997 rs267606845 GRCh37: 6:121768219-121768219
GRCh38: 6:121447073-121447073
22 GJA1 NM_000165.5(GJA1):c.443G>A (p.Arg148Gln) SNV Likely Pathogenic
435324 rs962041031 GRCh37: 6:121768436-121768436
GRCh38: 6:121447290-121447290
23 GJA1 NM_000165.5(GJA1):c.860A>G (p.Lys287Arg) SNV Uncertain Significance
1693303 GRCh37: 6:121768853-121768853
GRCh38: 6:121447707-121447707
24 GJA1 NM_000165.5(GJA1):c.1015G>A (p.Asp339Asn) SNV Uncertain Significance
355162 rs772121642 GRCh37: 6:121769008-121769008
GRCh38: 6:121447862-121447862
25 GJA1 NM_000165.5(GJA1):c.*694T>C SNV Uncertain Significance
355175 rs886061016 GRCh37: 6:121769836-121769836
GRCh38: 6:121448690-121448690
26 GJA1 NM_000165.5(GJA1):c.*1020_*1021del DEL Uncertain Significance
355181 rs375943953 GRCh37: 6:121770155-121770156
GRCh38: 6:121449009-121449010
27 GJA1 NM_000165.5(GJA1):c.*635C>T SNV Uncertain Significance
355174 rs886061015 GRCh37: 6:121769777-121769777
GRCh38: 6:121448631-121448631
28 GJA1 NM_000165.5(GJA1):c.*1077T>C SNV Uncertain Significance
355184 rs528853645 GRCh37: 6:121770219-121770219
GRCh38: 6:121449073-121449073
29 GJA1 NM_000165.5(GJA1):c.*1043T>C SNV Uncertain Significance
355183 rs886061021 GRCh37: 6:121770185-121770185
GRCh38: 6:121449039-121449039
30 GJA1 NM_000165.5(GJA1):c.*285A>T SNV Uncertain Significance
355171 rs72548748 GRCh37: 6:121769427-121769427
GRCh38: 6:121448281-121448281
31 GJA1 NM_000165.5(GJA1):c.*214G>A SNV Uncertain Significance
355169 rs549064986 GRCh37: 6:121769356-121769356
GRCh38: 6:121448210-121448210
32 GJA1 NM_000165.5(GJA1):c.*47A>G SNV Uncertain Significance
355164 rs886061010 GRCh37: 6:121769189-121769189
GRCh38: 6:121448043-121448043
33 GJA1 NM_000165.5(GJA1):c.*529C>G SNV Uncertain Significance
355172 rs886061013 GRCh37: 6:121769671-121769671
GRCh38: 6:121448525-121448525
34 GJA1 NM_000165.5(GJA1):c.*926A>T SNV Uncertain Significance
906697 rs765290352 GRCh37: 6:121770068-121770068
GRCh38: 6:121448922-121448922
35 GJA1 NM_000165.5(GJA1):c.*992G>A SNV Uncertain Significance
906698 rs903940354 GRCh37: 6:121770134-121770134
GRCh38: 6:121448988-121448988
36 GJA1 NM_000165.5(GJA1):c.*1334T>C SNV Uncertain Significance
905181 rs749953074 GRCh37: 6:121770476-121770476
GRCh38: 6:121449330-121449330
37 GJA1 NM_000165.5(GJA1):c.-87C>T SNV Uncertain Significance
906469 rs1263521795 GRCh37: 6:121756908-121756908
GRCh38: 6:121435762-121435762
38 GJA1 NM_000165.5(GJA1):c.*521G>C SNV Uncertain Significance
907650 rs1270925038 GRCh37: 6:121769663-121769663
GRCh38: 6:121448517-121448517
39 GJA1 NM_000165.5(GJA1):c.1111G>A (p.Ala371Thr) SNV Uncertain Significance
1028585 rs1773918972 GRCh37: 6:121769104-121769104
GRCh38: 6:121447958-121447958
40 GJA1 NM_000165.5(GJA1):c.*916_*918del DEL Uncertain Significance
355179 rs886061018 GRCh37: 6:121770058-121770060
GRCh38: 6:121448912-121448914
41 GJA1 NM_000165.5(GJA1):c.*773del DEL Uncertain Significance
355178 rs397698276 GRCh37: 6:121769906-121769906
GRCh38: 6:121448760-121448760
42 GJA1 NM_000165.5(GJA1):c.270C>G (p.Leu90=) SNV Uncertain Significance
355159 rs886061009 GRCh37: 6:121768263-121768263
GRCh38: 6:121447117-121447117
43 GJA1 NM_000165.5(GJA1):c.*1101T>C SNV Uncertain Significance
355185 rs886061022 GRCh37: 6:121770243-121770243
GRCh38: 6:121449097-121449097
44 GJA1 NM_000165.5(GJA1):c.*191G>A SNV Uncertain Significance
355168 rs886061012 GRCh37: 6:121769333-121769333
GRCh38: 6:121448187-121448187
45 GJA1 NM_000165.5(GJA1):c.-161G>T SNV Uncertain Significance
355155 rs764033415 GRCh37: 6:121756834-121756834
GRCh38: 6:121435688-121435688
46 GJA1 NM_000165.5(GJA1):c.-188G>T SNV Uncertain Significance
355154 rs886061008 GRCh37: 6:121756807-121756807
GRCh38: 6:121435661-121435661
47 GJA1 NM_000165.5(GJA1):c.*538G>A SNV Uncertain Significance
355173 rs886061014 GRCh37: 6:121769680-121769680
GRCh38: 6:121448534-121448534
48 GJA1 NM_000165.5(GJA1):c.*163G>A SNV Uncertain Significance
355166 rs886061011 GRCh37: 6:121769305-121769305
GRCh38: 6:121448159-121448159
49 GJA1 NM_000165.5(GJA1):c.565del (p.Arg189fs) DEL Uncertain Significance
802259 rs1582558420 GRCh37: 6:121768555-121768555
GRCh38: 6:121447409-121447409
50 GJA1 NM_000165.5(GJA1):c.129A>G (p.Ser43=) SNV Uncertain Significance
904141 rs749135596 GRCh37: 6:121768122-121768122
GRCh38: 6:121446976-121446976

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

73 (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 rs1554200992
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 rs1554201011
13 GJA1 p.Ile130Thr VAR_015759 rs1554201017
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 rs1554201043
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 rs1057518872
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

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
13.25 GJD2 GJC2 GJC1 GJB6 GJB5 GJB4
2
Show member pathways
12.43 GJD3 GJD2 GJC2 GJC1 GJB6 GJB5
3
Show member pathways
12.39 GJA1 GJA3 GJA4 GJA5 GJA8 GJB1
4
Show member pathways
11.95 GJA1 GJA3 GJA4 GJA5 GJA8 GJB1
5 11.37 GJD3 GJA5 GJA1
6 11.13 GJA8 GJA5 GJA3 GJA1
7 11.11 GJA5 GJA4 GJA1
8
Show member pathways
10.62 PANX2 PANX1 GJD2 GJC1
9
Show member pathways
10.36 GJB2 GJB1 GJA1

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 membrane GO:0016020 10.85 GJA1 GJA3 GJA4 GJA5 GJA8 GJB1
2 membrane GO:0016021 10.85 GJA1 GJA3 GJA4 GJA5 GJA8 GJB1
3 plasma membrane GO:0005886 10.83 GJA1 GJA3 GJA4 GJA5 GJA8 GJB2
4 plasma membrane GO:0005887 10.83 GJA1 GJA3 GJA4 GJA5 GJA8 GJB2
5 anchoring junction GO:0070161 10.13 GJB5 GJB4 GJB3 GJB2 GJB1 GJA8
6 gap junction GO:0005921 10.13 PANX3 PANX2 PANX1 GJD3 GJD2 GJC3
7 cell junction GO:0030054 10.02 GJB6 GJB4 GJB3 GJB2 GJA1
8 intercalated disc GO:0014704 9.88 GJC1 GJA5 GJA1
9 connexin complex GO:0005922 9.83 GJD3 GJD2 GJC3 GJC2 GJC1 GJB6

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 10.49 GJB2 GJB1 GJA8 GJA5 GJA4 GJA3
2 cell-cell signaling GO:0007267 10.43 PANX3 PANX2 PANX1 GJD3 GJD2 GJC3
3 cell communication by electrical coupling GO:0010644 10.02 GJC2 GJB6 GJB2 GJA5 GJA1
4 gap junction-mediated intercellular transport GO:1990349 10.02 GJA3 GJA8 GJB2 GJB4 GJB6
5 response to ischemia GO:0002931 9.99 PANX2 PANX1 GJB2
6 monoatomic cation transport GO:0006812 9.97 PANX3 PANX2 PANX1
7 AV node cell to bundle of His cell communication by electrical coupling GO:0086053 9.95 GJD3 GJC3 GJC1 GJA5
8 epididymis development GO:1905867 9.91 GJB5 GJB2 GJB1
9 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.85 GJA5 GJA1
10 positive regulation of interleukin-1 production GO:0032732 9.85 PANX1 PANX2 PANX3
11 atrial cardiac muscle cell action potential GO:0086014 9.84 GJC1 GJA1
12 endothelium development GO:0003158 9.83 GJA5 GJA4
13 gap junction assembly GO:0016264 9.8 GJD3 GJC1 GJB6 GJB2 GJB1 GJA5
14 SA node cell to atrial cardiac muscle cell communication by electrical coupling GO:0086021 9.78 GJC1 GJA5
15 cell communication GO:0007154 9.55 GJD3 GJD2 GJC3 GJC2 GJC1 GJB6

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

# Name GO ID Score Top Affiliating Genes
1 gap junction channel activity GO:0005243 10.17 GJA1 GJA3 GJA4 GJA5 GJA8 GJB1
2 gap junction channel activity involved in cell communication by electrical coupling GO:1903763 9.86 GJC2 GJB6 GJB2 GJA1
3 wide pore channel activity GO:0022829 9.85 PANX3 PANX2 PANX1
4 gap junction channel activity involved in cardiac conduction electrical coupling GO:0086075 9.72 GJD3 GJA5 GJA1
5 gap junction channel activity involved in SA node cell-atrial cardiac muscle cell electrical coupling GO:0086020 9.71 GJC1 GJA5
6 gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling GO:0086077 9.63 GJA5 GJC1 GJC3 GJD3
7 channel activity GO:0015267 9.61 PANX3 PANX2 PANX1
8 gap junction hemi-channel activity GO:0055077 9.28 GJA1 GJA3 GJA5 PANX1 PANX2 PANX3

Sources for Oculodentodigital Dysplasia

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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