MCID: OCL047
MIFTS: 18

Oculodentodigital Dysplasia, Autosomal Recessive malady

Genetic diseases, Rare diseases, Eye diseases, Bone diseases, Skin diseases, Fetal diseases, Oral diseases categories

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 autosomal recessive inheritance, underdeveloped nasal alae and narrow nose. An important gene associated with Oculodentodigital Dysplasia, Autosomal Recessive is GJA1 (gap junction protein, alpha 1, 43kDa). Affiliated tissues include bone.

Description from OMIM:45 257850

Aliases & Classifications for Oculodentodigital Dysplasia, Autosomal Recessive

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Oculodentodigital Dysplasia, Autosomal Recessive, Aliases & Descriptions:

Name: Oculodentodigital Dysplasia, Autosomal Recessive 45 10 22


Classifications:



External Ids:

OMIM45 257850

Related Diseases for Oculodentodigital Dysplasia, Autosomal Recessive

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Diseases in the Oculodentodigital Dysplasia family:

oculodentodigital dysplasia, autosomal recessive Oculodentodigital Dysplasia Dominant

Diseases related to Oculodentodigital Dysplasia, Autosomal Recessive via text searches within MalaCards or GeneCards Suite 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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Genetic tests related to Oculodentodigital Dysplasia, Autosomal Recessive:

id Genetic test Affiliating Genes
1 Oculodentodigital Dysplasia, Autosomal Recessive22

Anatomical Context for Oculodentodigital Dysplasia, Autosomal Recessive

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MalaCards organs/tissues related to Oculodentodigital Dysplasia, Autosomal Recessive:

31
Bone

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 Variation 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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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
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Oculodentodigital Dysplasia, Autosomal Recessive

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet