MCID: OCL047

Oculodentodigital Dysplasia, Autosomal Recessive malady

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Summaries for Oculodentodigital Dysplasia, Autosomal Recessive

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MalaCards based summary: Oculodentodigital Dysplasia, Autosomal Recessive is related to hypoplastic left heart syndrome 1 and atrioventricular septal defect 3, and has symptoms including An important gene associated with Oculodentodigital Dysplasia, Autosomal Recessive is GJA1 (gap junction protein, alpha 1, 43kDa).

Description from OMIM:46 257850

Aliases & Classifications for Oculodentodigital Dysplasia, Autosomal Recessive

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Oculodentodigital Dysplasia, Autosomal Recessive, Aliases & Descriptions:

Name: Oculodentodigital Dysplasia, Autosomal Recessive 46


Related Diseases for Oculodentodigital Dysplasia, Autosomal Recessive

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

idRelated DiseaseScoreTop Affiliating Genes
1hypoplastic left heart syndrome 110.1GJA1
2atrioventricular septal defect 310.1GJA1
3oculodentodigital dysplasia10.0GJA1

Symptoms for Oculodentodigital Dysplasia, Autosomal Recessive

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Symptoms by clinical synopsis from OMIM:

257850

Clinical features from OMIM:

257850

HPO human phenotypes related to Oculodentodigital Dysplasia, Autosomal Recessive:

(show all 14)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 underdeveloped nasal alae HP:0000430
3 narrow nose HP:0000460
4 microcornea HP:0000482
5 telecanthus HP:0000506
6 microphthalmos HP:0000568
7 abnormality of dental enamel HP:0000682
8 long nose HP:0003189
9 broad long bones HP:0005622
10 2-4 toe cutaneous syndactyly HP:0005768
11 fifth finger distal phalanx clinodactyly HP:0005769
12 abnormality of dental morphology HP:0006482
13 prominent epicanthal folds HP:0007930
14 4-5 finger syndactyly HP:0010705

Drugs & Therapeutics for Oculodentodigital Dysplasia, Autosomal Recessive

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Drug clinical trials:

Search ClinicalTrials for Oculodentodigital Dysplasia, Autosomal Recessive

Search NIH Clinical Center for Oculodentodigital Dysplasia, Autosomal Recessive

Genetic Tests for Oculodentodigital Dysplasia, Autosomal Recessive

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Anatomical Context for Oculodentodigital Dysplasia, Autosomal Recessive

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Animal Models for Oculodentodigital Dysplasia, Autosomal Recessive or affiliated genes

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Publications for Oculodentodigital Dysplasia, Autosomal Recessive

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Variations for Oculodentodigital Dysplasia, Autosomal Recessive

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Clinvar genetic disease variations for Oculodentodigital Dysplasia, Autosomal Recessive:

6
id Gene Name Type Significance SNP ID Assembly Location
1GJA1NM_000165.3(GJA1): c.97C> T (p.Arg33Ter)single nucleotide variantPathogenicrs121912970GRCh37Chr 6, 121768090: 121768090
2GJA1NM_000165.3(GJA1): c.227G> A (p.Arg76His)single nucleotide variantPathogenicrs267606844GRCh37Chr 6, 121768220: 121768220

Expression for genes affiliated with Oculodentodigital Dysplasia, Autosomal Recessive

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Expression patterns in normal tissues for genes affiliated with Oculodentodigital Dysplasia, Autosomal Recessive

Search GEO for disease gene expression data for Oculodentodigital Dysplasia, Autosomal Recessive.

Pathways for genes affiliated with Oculodentodigital Dysplasia, Autosomal Recessive

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Compounds for genes affiliated with Oculodentodigital Dysplasia, Autosomal Recessive

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GO Terms for genes affiliated with Oculodentodigital Dysplasia, Autosomal Recessive

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Products for genes affiliated with Oculodentodigital Dysplasia, Autosomal Recessive

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  • Antibodies
  • Proteins
  • Lysates

Sources for Oculodentodigital Dysplasia, Autosomal Recessive

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet