ODDD
MCID: OCL013
MIFTS: 55

Oculodentodigital Dysplasia (ODDD) malady

Genetic diseases, Rare diseases, Eye diseases, Bone diseases, Skin diseases, Fetal diseases, Oral diseases categories
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Summaries for Oculodentodigital Dysplasia

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43NIH Rare Diseases, 21Genetics Home Reference, 65Wikipedia, 47OMIM, 33MalaCards
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Genetics Home Reference:21 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.

MalaCards: Oculodentodigital Dysplasia, also known as oculo-dento-digital dysplasia, is related to syndactyly and persistent hyperplastic primary vitreous, and has symptoms including cortical anomaly/thick bone cortical layer, upslanted palpebral fissures/mongoloid slanting palpebral fissures and deepset eyes/enophthalmos. An important gene associated with Oculodentodigital Dysplasia is GJA1 (gap junction protein, alpha 1, 43kDa). The compounds halothane and doxycycline have been mentioned in the context of this disorder. Affiliated tissues include eye, bone and skin.

NIH Rare Diseases:43 Oculodentodigital dysplasia is a condition that affects many parts of the body, particularly the eyes (oculo-), teeth (dento-), and fingers (digital). the condition is caused by mutations in the gja1 gene. most cases are inherited in an autosomal dominant pattern. some cases are caused by a new mutation in the gene. a small number of cases follow an autosomal recessive pattern of inheritance. management is multidisciplinary and based on specific symptoms. early diagnosis is critical for prevention and treatment. last updated: 1/26/2011

Wikipedia:65 Oculodentodigital syndrome (ODD syndrome) is an extremely rare genetic condition that typically results... more...

Description from OMIM:47 164200,257850

Aliases & Classifications for Oculodentodigital Dysplasia

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43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 45Novoseek, 49Orphanet, 62UMLS, 26ICD10 via Orphanet, 63UMLS via Orphanet, 59SNOMED-CT via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
oculodentodigital dysplasia:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Neonatal/infancy


Aliases & Descriptions:

oculodentodigital dysplasia 43 20 22 21 47 45 49
oculo-dento-digital dysplasia 43 21
oculo-dento-digital syndrome 43 62
oculodentoosseous dysplasia 21 49
oculodentodigital syndrome 43 21
odd syndrome 43 21
oddd 43 21
oculodentodigital dysplasia syndrome 45
osseous-oculo-dental dysplasia 21
oculo-dento-osseous dysplasia 21
meyer-schwickerath syndrome 49
oddd syndrome 49
odod 21


External Ids:

ICD10 via Orphanet26 Q87.8
UMLS via Orphanet63 C0812437
SNOMED-CT via Orphanet59 38215007

Related Diseases for Oculodentodigital Dysplasia

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Oculodentodigital Dysplasia:



Diseases related to oculodentodigital dysplasia

Symptoms for Oculodentodigital Dysplasia

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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

164200

Clinical features from OMIM:

164200,257850

Symptoms:

49 (show all 86)
  • cortical anomaly/thick bone cortical layer
  • upslanted palpebral fissures/mongoloid slanting palpebral fissures
  • deepset eyes/enophthalmos
  • micrognathia/retrognathia/micrognathism/retrognathism
  • aniridia/iris hypoplasia
  • strabismus/squint
  • nystagmus
  • blepharophimosis/short palpebral fissures
  • metaphyseal anomaly
  • hyperostosis
  • abnormal gait
  • ataxia/incoordination/trouble of the equilibrium
  • hypertonia/spasticity/rigidity/stiffness
  • hypereflexia
  • hemiplegia/diplegia/hemiparesia/limb palsy
  • seizures/epilepsy/absences/spasms/status epilepticus
  • elocution disorders/dysarthria/dysphonia
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • muscle weakness/flaccidity
  • epicanthic folds
  • lateral cleft lip/gingival cleft/paramedian nasal cleft
  • fine hair
  • brittle hair/distrix/trichorrhexis
  • congenital cardiac anomaly/malformation/cardiopathy
  • ventricular septal defect/interventricular communication
  • cardiac rhythm disorder/arrhythmia
  • hypoglycemia
  • diaphyseal anomaly
  • autosomal recessive inheritance
  • palmoplantar hyperkeratosis/keratoderma
  • short big toe
  • taurodontia
  • hearing loss/hypoacusia/deafness
  • abnormal vertebral size/shape
  • umbilical hernia
  • madelung's deformity
  • short hand/brachydactyly
  • upper limb polydactyly/hexadactyly
  • preaxial polydactyly (hand)
  • clavicle absent/abnormal
  • anophthalmos/anophthalmia/microphthalmos/microphthalmia
  • camptodactyly of some fingers
  • clinodactyly of fifth finger
  • syndactyly of toes
  • autosomal dominant inheritance
  • dense/thickened skull/calvarium/cranial/facial hyperostosis
  • high forehead
  • hypertelorism
  • hypotelorism
  • prognathism/prognathia
  • syndactyly of fingers/interdigital palm
  • premature lost of decidious teeth
  • multiple caries
  • microcornea
  • anomalies of nose and olfaction
  • narrow nasal bridge
  • anteverted nares/nostrils
  • thin/hypoplastic ala nasi
  • thick columella
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • anodontia/oligodontia/hypodontia
  • enamel anomaly
  • enlargment of jaw/large jaw
  • anomalies of eyes and vision
  • camptodactyly of fingers
  • clinodactyly of fingers 1,2,3,4/overlapping fingers
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • slow growth of the hair
  • abnormal hair texture/hair dysplasia
  • nails anomalies
  • abnormal fingernails
  • bladder and ureter anomalies
  • cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia
  • conductive deafness/hearing loss
  • external ear anomalies
  • broad alveolar ridge
  • glaucoma
  • cataract/lens opacification
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • visual loss/blindness/amblyopia
  • hypermetropia
  • myopia
  • short/small nose
  • small/triangular nares/nostrils
  • median cleft lip
  • intracranial/cerebral calcifications

Drugs & Therapeutics for Oculodentodigital Dysplasia

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Oculodentodigital Dysplasia

Search NIH Clinical Center for Oculodentodigital Dysplasia

Genetic Tests for Oculodentodigital Dysplasia

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20GeneTests, 22GTR
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Genetic tests related to Oculodentodigital Dysplasia:

id Genetic test Affiliating Genes
1 Oculodentodigital Dysplasia20 22 GJA1

Anatomical Context for Oculodentodigital Dysplasia

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33MalaCards
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MalaCards organs/tissues related to Oculodentodigital Dysplasia:

33
Eye, Bone, Skin, Cerebellum, Heart, Kidney

Animal Models for Oculodentodigital Dysplasia or affiliated genes

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Publications for Oculodentodigital Dysplasia

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52PubMed
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Articles related to Oculodentodigital Dysplasia:

(show top 50)    (show all 77)
idTitleAuthorsYear
1
Cerebral ischemic injury is enhanced in a model of oculodentodigital dysplasia. (23727526)
2013
2
Congenital heart defects in oculodentodigital dysplasia: Report of two cases. (24115525)
2013
3
Neurological manifestations of oculodentodigital dysplasia: a Cx43 channelopathy of the central nervous system? (24133447)
2013
4
Autosomal recessive GJA1 (Cx43) gene mutations cause oculodentodigital dysplasia by distinct mechanisms. (23606748)
2013
5
Characterization of gap junction proteins in the bladder of Cx43 mutant mouse models of oculodentodigital dysplasia. (22752022)
2012
6
A novel GJA1 mutation in oculodentodigital dysplasia with progressive spastic paraplegia and sensory deficits. (22214631)
2012
7
Human dermal fibroblasts derived from oculodentodigital dysplasia patients suggest that patients may have wound-healing defects. (21305658)
2011
8
Male reproductive system defects and subfertility in a mutant mouse model of oculodentodigital dysplasia. (22004529)
2011
9
The G60S connexin43 mutant regulates hair growth and hair fiber morphology in a mouse model of human oculodentodigital dysplasia. (21716323)
2011
10
A severe progressive oculodentodigital dysplasia due to compound heterozygous GJA1 mutation. (20597923)
2010
11
Dental management of oculodentodigital dysplasia: a case report. (20587963)
2010
12
A novel GJA1 missense mutation in a Polish child with oculodentodigital dysplasia. (19638688)
2009
13
Oogenesis defects in a mutant mouse model of oculodentodigital dysplasia. (19259389)
2009
14
A case of oculodentodigital dysplasia syndrome with novel GJA1 gene mutation. (19847613)
2009
15
GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype. (19338053)
2009
16
Ocular manifestations in oculodentodigital dysplasia resulting from a heterozygous missense mutation (L113P) in GJA1 (connexin 43). (18425059)
2009
17
Decreased levels of connexin43 result in impaired development of the mammary gland in a mouse model of oculodentodigital dysplasia. (18455714)
2008
18
Report of a black South African child with oculodentodigital dysplasia and a novel GJA1 gene mutation. (18412120)
2008
19
Expanding the neurologic phenotype of oculodentodigital dysplasia in a 4-generation Hispanic family. (18660473)
2008
20
Variable expression of neurological phenotype in autosomal recessive oculodentodigital dysplasia of two sibs and review of the literature. (17476528)
2008
21
Some oculodentodigital dysplasia-associated Cx43 mutations cause increased hemichannel activity in addition to deficient gap junction channels. (17687502)
2007
22
A new GJA1 (connexin 43) mutation causing oculodentodigital dysplasia associated to uncommon features. (18161618)
2007
23
Gap junction remodeling and cardiac arrhythmogenesis in a murine model of oculodentodigital dysplasia. (18077386)
2007
24
Functional characterization of a GJA1 frameshift mutation causing oculodentodigital dysplasia and palmoplantar keratoderma. (16891658)
2006
25
Clinical and genetic variability of oculodentodigital dysplasia. (16813608)
2006
26
Oculodentodigital dysplasia connexin43 mutations result in non-functional connexin hemichannels and gap junctions in C6 glioma cells. (16418219)
2006
27
Functional characterization of oculodentodigital dysplasia-associated Cx43 mutants. (16531323)
2005
28
Functional characterization of connexin43 mutations found in patients with oculodentodigital dysplasia. (15879313)
2005
29
A Gja1 missense mutation in a mouse model of oculodentodigital dysplasia. (16155213)
2005
30
Gene symbol: GJA1. Disease: oculodentodigital dysplasia. (15818811)
2005
31
Letter to the editor: Novel GJA1 mutation in oculodentodigital dysplasia. (16222672)
2005
32
Oculodentodigital dysplasia-causing connexin43 mutants are non-functional and exhibit dominant effects on wild-type connexin43. (15644317)
2005
33
Oculodentodigital dysplasia: study of ophthalmological and clinical manifestations in three boys with probably autosomal recessive inheritance. (15512999)
2004
34
Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia. (12457340)
2003
35
Linkage analysis narrows the critical region for oculodentodigital dysplasia to chromosome 6q22-q23. (10331943)
1999
36
Type III syndactyly and oculodentodigital dysplasia: a clinical spectrum. (8110413)
1993
37
Oculodentodigital dysplasia syndrome associated with abnormal cerebral white matter. (1659191)
1991
38
Hallermann-Streiff syndrome: clinical and psychological findings in children. Nosologic overlap with oculodentodigital dysplasia? (1663704)
1991
39
Oculodentodigital dysplasia and type III syndactyly: separate genetic entities or disease spectrum? (2157843)
1990
40
Dental management of oculodentodigital dysplasia: report of case. (2937820)
1986
41
Oculodentodigital dysplasia. (3458155)
1986
42
Oculodentodigital dysplasia syndrome with angle-closure glaucoma. (677231)
1978
43
Oculodentodigital dysplasia. (74156)
1977
44
Oculodentodigital dysplasia. (406906)
1977
45
Congenital heart disease in oculodentodigital dysplasia. (403698)
1977
46
Intraoral findings of oculodentodigital dysplasia. (824333)
1976
47
Oculodentodigital dysplasia. Picture of the month. (4209752)
1974
48
Oculodentodigital dysplasia syndrome. (4994052)
1971
49
Oculodentodigital dysplasia. (5820606)
1969
50
Oculodentodigital dysplasia. (13949300)
1963

Variations for Oculodentodigital Dysplasia

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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Oculodentodigital Dysplasia:

64 (show all 42)
id Symbol AA change Variation ID SNP ID
1GJA1p.Tyr17SerVAR_015747
2GJA1p.Ser18ProVAR_015748
3GJA1p.Gly21ArgVAR_015749
4GJA1p.Gly22GluVAR_015750
5GJA1p.Lys23ThrVAR_015751
6GJA1p.Ala40ValVAR_015752
7GJA1p.Gln49LysVAR_015753
8GJA1p.Arg76SerVAR_015755
9GJA1p.Leu90ValVAR_015756
10GJA1p.Tyr98CysVAR_015757
11GJA1p.Lys102AsnVAR_015758
12GJA1p.Ile130ThrVAR_015759
13GJA1p.Lys134GluVAR_015760
14GJA1p.Gly138ArgVAR_015761
15GJA1p.Arg202HisVAR_015762
16GJA1p.Val216LeuVAR_015763
17GJA1p.Ser27ProVAR_038356
18GJA1p.Ile31MetVAR_038357
19GJA1p.Ser69TyrVAR_038358
20GJA1p.Leu113ProVAR_038359
21GJA1p.Lys134AsnVAR_038360
22GJA1p.Gly2ValVAR_058990
23GJA1p.Leu7ValVAR_058991
24GJA1p.Leu11ProVAR_058992
25GJA1p.Gln49ProVAR_058994
26GJA1p.Pro59HisVAR_058996
27GJA1p.His95ArgVAR_058998
28GJA1p.Val96AlaVAR_058999
29GJA1p.Val96GluVAR_059000
30GJA1p.Val96MetVAR_059001rs28931601
31GJA1p.Leu106ProVAR_059002
32GJA1p.Glu110AspVAR_059003
33GJA1p.Met147ThrVAR_059004
34GJA1p.Thr154AlaVAR_059005
35GJA1p.Thr154AsnVAR_059006
36GJA1p.His194ProVAR_059008
37GJA1p.Ser201PheVAR_059009
38GJA1p.Ser220TyrVAR_059010
39GJA1p.Lys206ArgVAR_070440
40GJA1p.Asp47HisVAR_071009
41GJA1p.Ser86TyrVAR_071010
42GJA1p.Leu106ArgVAR_071011

Clinvar genetic disease variations for Oculodentodigital Dysplasia:

1 (show all 14)
id Gene Name Type Significance SNP ID Assembly Location
1GJA1NM_000165.3(GJA1): c.50A> C (p.Tyr17Ser)single nucleotide variantPathogenicrs104893961GRCh37Chr 6, 121768043: 121768043
2GJA1NM_000165.3(GJA1): c.52T> C (p.Ser18Pro)single nucleotide variantPathogenicrs104893962GRCh37Chr 6, 121768045: 121768045
3GJA1NM_000165.3(GJA1): c.61G> A (p.Gly21Arg)single nucleotide variantPathogenicrs104893963GRCh37Chr 6, 121768054: 121768054
4GJA1NM_000165.3(GJA1): c.65G> A (p.Gly22Glu)single nucleotide variantPathogenicrs104893964GRCh37Chr 6, 121768058: 121768058
5GJA1GJA1, 3-BP DUP, 154TTTduplicationPathogenic
6GJA1NM_000165.3(GJA1): c.286G> A (p.Val96Met)single nucleotide variantPathogenicrs28931601GRCh37Chr 6, 121768279: 121768279
7GJA1GJA1, 2-BP DEL, 780T-GdeletionPathogenic
8GJA1NM_000165.3(GJA1): c.581A> C (p.His194Pro)single nucleotide variantPathogenicrs104893966GRCh37Chr 6, 121768574: 121768574
9GJA1NM_000165.3(GJA1): c.32T> C (p.Leu11Pro)single nucleotide variantPathogenicrs121912969GRCh37Chr 6, 121768025: 121768025
10GJA1GJA1, 2-BP DEL, 679ATdeletionPathogenic
11GJA1NM_000165.3(GJA1): c.226C> A (p.Arg76Ser)single nucleotide variantPathogenicrs267606845GRCh37Chr 6, 121768219: 121768219
12GJA1GJA1, 12-BP DEL, NT120deletionPathogenic
13GJA1NM_000165.3(GJA1): c.31C> T (p.Leu11Phe)single nucleotide variantPathogenicrs387906616GRCh37Chr 6, 121768024: 121768024
14GJA1NM_000165.3(GJA1): c.617A> G (p.Lys206Arg)single nucleotide variantPathogenicrs397518464GRCh37Chr 6, 121768610: 121768610

Expression for genes affiliated with Oculodentodigital Dysplasia

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Oculodentodigital Dysplasia

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Pathways for genes affiliated with Oculodentodigital Dysplasia

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Compounds for genes affiliated with Oculodentodigital Dysplasia

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45Novoseek, 51PharmGKB, 29IUPHAR, 11DrugBank, 61Tocris Bioscience, 24HMDB
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Compounds related to Oculodentodigital Dysplasia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1halothane45 51 29 1112.6GJA1, DSPP
2doxycycline45 1110.5GJA1, DSPP
3calcitriol45 61 24 1112.5DSPP, GJA1
4agar459.5GJA1, DSPP
5paraffin459.4GJA1, DSPP
6h2o2459.4DSPP, GJA1
7dexamethasone45 51 29 1112.3GJA1, DSPP
8estrogen459.3GJA1, DSPP
9glutamate459.2GJA1, DSPP
10alanine459.0GJA1, DSPP

GO Terms for genes affiliated with Oculodentodigital Dysplasia

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Products for genes affiliated with Oculodentodigital Dysplasia

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  • Antibodies
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Sources for Oculodentodigital Dysplasia

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet