ODDD
MCID: OCL013
MIFTS: 49

Oculodentodigital Dysplasia (ODDD) malady

Eye diseases, Bone diseases, Skin diseases, Fetal diseases categories

Summaries for Oculodentodigital Dysplasia

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Sources:
42NIH Rare Diseases, 21Genetics Home Reference, 63Wikipedia, 46OMIM, 32MalaCards
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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 cerebritis, and has symptoms including intracranial/cerebral calcifications, cortical anomaly/thick bone cortical layer and upslanted palpebral fissures/mongoloid slanting palpebral fissures. 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, skin and bone.

NIH Rare Diseases:42 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:63 Oculodentodigital syndrome (ODD syndrome) is an extremely rare genetic condition that typically results... more...

Description from OMIM:46 164200,257850

Aliases & Classifications for Oculodentodigital Dysplasia

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 44Novoseek, 48Orphanet, 60UMLS, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases
Anatomical: Eye diseases, Bone diseases, Skin diseases


Characteristics (Orphanet epidemiological data):

48
oculodentodigital dysplasia:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Neonatal/infancy


Aliases & Descriptions:

oculodentodigital dysplasia 42 20 22 21 46 44 48
oculo-dento-digital dysplasia 42 21
oculo-dento-digital syndrome 42 60
oculodentoosseous dysplasia 21 48
oculodentodigital syndrome 42 21
odd syndrome 42 21
oddd 42 21
oculodentodigital dysplasia syndrome 44
osseous-oculo-dental dysplasia 21
oculo-dento-osseous dysplasia 21
meyer-schwickerath syndrome 48
oddd syndrome 48
odod 21


External Ids:

ICD10 via Orphanet26 Q87.8
SNOMED-CT via Orphanet57 38215007

Related Diseases for Oculodentodigital Dysplasia

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Sources:
17GeneCards, 18GeneDecks
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Diseases in the Oculodentodigital Dysplasia family:

Oculodentodigital Dysplasia Dominant

Diseases related to Oculodentodigital Dysplasia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 17)
idRelated DiseaseScoreTop Affiliating Genes
1syndactyly10.5
2cerebritis10.3
3oculodentoosseous dysplasia recessive10.3
4glaucoma10.3
5oculodentodigital dysplasia dominant10.3
6oculodentodigital dysplasia, autosomal recessive10.3
7syndromic diarrhea10.1
8cleft lip10.1
9hallermann-streiff syndrome10.1
10congenital heart defect10.1
11diarrhea10.1
12dysostosis10.1
13paraplegia10.1
14syndactyly type 310.1
15short stature10.0DSPP
16cadasil10.0DSPP, GJA1
17dental enamel hypoplasia10.0DSPP, GJA1

Graphical network of diseases related to Oculodentodigital Dysplasia:



Diseases related to oculodentodigital dysplasia

Clinical Features for Oculodentodigital Dysplasia

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46OMIM, 48Orphanet
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Clinical features from OMIM:

164200,257850

Clinical synopsis from OMIM:

164200

Symptoms:

48 (show all 86)
  • intracranial/cerebral calcifications
  • 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
  • metaphyseal anomaly
  • hyperostosis
  • muscle weakness/flaccidity
  • 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
  • blepharophimosis/short palpebral fissures
  • 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
  • madelung's deformity
  • hearing loss/hypoacusia/deafness
  • clavicle absent/abnormal
  • abnormal vertebral size/shape
  • umbilical hernia
  • short hand/brachydactyly
  • upper limb polydactyly/hexadactyly
  • preaxial polydactyly (hand)
  • taurodontia
  • anophthalmos/anophthalmia/microphthalmos/microphthalmia
  • syndactyly of fingers/interdigital palm
  • 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
  • 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
  • prognathism/prognathia
  • enlargment of jaw/large jaw
  • anomalies of eyes and vision
  • conductive deafness/hearing loss
  • 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
  • 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
  • cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia

Drugs & Therapeutics for Oculodentodigital Dysplasia

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Oculodentodigital Dysplasia

Drug clinical trials:

Search ClinicalTrials for Oculodentodigital Dysplasia

Search NIH Clinical Center for Oculodentodigital Dysplasia

Search CenterWatch 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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32MalaCards
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MalaCards organs/tissues related to Oculodentodigital Dysplasia:

32
Eye, Skin, Bone, Cerebellum

Animal Models for Oculodentodigital Dysplasia or affiliated genes

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Publications for Oculodentodigital Dysplasia

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Genetic Variations for Oculodentodigital Dysplasia

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Oculodentodigital Dysplasia:

62 (show all 40)
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.Val41LeuVAR_058993
26GJA1p.Gln49ProVAR_058994
27GJA1p.Pro59HisVAR_058996
28GJA1p.His95ArgVAR_058998
29GJA1p.Val96AlaVAR_058999
30GJA1p.Val96GluVAR_059000
31GJA1p.Val96MetVAR_059001rs28931601
32GJA1p.Leu106ProVAR_059002
33GJA1p.Glu110AspVAR_059003
34GJA1p.Met147ThrVAR_059004
35GJA1p.Thr154AlaVAR_059005
36GJA1p.Thr154AsnVAR_059006
37GJA1p.His194ProVAR_059008
38GJA1p.Ser201PheVAR_059009
39GJA1p.Ser220TyrVAR_059010
40GJA1p.Lys206ArgVAR_070440

Expression for genes affiliated with Oculodentodigital Dysplasia

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Oculodentodigital Dysplasia

Search GEO for disease gene expression data for Oculodentodigital Dysplasia.

Pathways for genes affiliated with Oculodentodigital Dysplasia

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Compounds for genes affiliated with Oculodentodigital Dysplasia

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Sources:
44Novoseek, 28IUPHAR, 11DrugBank, 59Tocris Bioscience, 24HMDB
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Compounds related to Oculodentodigital Dysplasia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1halothane44 28 1111.4GJA1, DSPP
2doxycycline44 1110.4GJA1, DSPP
3calcitriol44 59 11 2412.3GJA1, DSPP
4h2o2449.3GJA1, DSPP
5agar449.2DSPP, GJA1
6paraffin449.0GJA1, 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
  • Proteins
  • Lysates
  • Antibodies

Sources for Oculodentodigital Dysplasia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet