MCID: OCL047
MIFTS: 26

Oculodentodigital Dysplasia, Autosomal Recessive malady

Categories: Genetic diseases, Rare diseases, Eye diseases, Bone diseases, Skin diseases, Fetal diseases, Oral diseases

Aliases & Classifications for Oculodentodigital Dysplasia, Autosomal Recessive

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Aliases & Descriptions for Oculodentodigital Dysplasia, Autosomal Recessive:

Name: Oculodentodigital Dysplasia, Autosomal Recessive 50 68 25 12
Autosomal Recessive Oculodentoosseous Dysplasia 68
Autosomal Recessive Odd Syndrome 68
 
Autosomal Recessive Oddd 68
Autosomal Recessive Odod 68
Oddd-Ar 68

Characteristics:

HPO:

62
oculodentodigital dysplasia, autosomal recessive:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 257850
MedGen35 C2749477

Summaries for Oculodentodigital Dysplasia, Autosomal Recessive

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UniProtKB/Swiss-Prot:68 Oculodentodigital dysplasia, autosomal recessive: 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.

MalaCards based summary: Oculodentodigital Dysplasia, Autosomal Recessive, also known as autosomal recessive oculodentoosseous dysplasia, is related to chromosome 6pter-p24 deletion syndrome and craniometaphyseal dysplasia, autosomal recessive, and has symptoms including narrow mouth, thin vermilion border and brachycephaly. An important gene associated with Oculodentodigital Dysplasia, Autosomal Recessive is GJA1 (Gap Junction Protein Alpha 1). Affiliated tissues include eye and bone.

Description from OMIM:50 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
1chromosome 6pter-p24 deletion syndrome9.7GFER, GJA1
2craniometaphyseal dysplasia, autosomal recessive9.7GFER, GJA1
3atrioventricular septal defect 39.6GFER, GJA1
4oculodentodigital dysplasia, autosomal recessive9.6GFER, GJA1
5palmoplantar keratoderma with congenital alopecia9.5GFER, GJA1
6erythrokeratodermia variabilis et progressiva9.5GFER, GJA1
7hypoplastic left heart syndrome 19.4GFER, GJA1
8syndactyly, type iii9.2GFER, GJA1

Graphical network of diseases related to Oculodentodigital Dysplasia, Autosomal Recessive:



Diseases related to oculodentodigital dysplasia, autosomal recessive

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 39)
id Description Frequency HPO Source Accession
1 narrow mouth HP:0000160
2 thin vermilion border HP:0000233
3 brachycephaly HP:0000248
4 hypoplasia of the maxilla HP:0000327
5 long philtrum HP:0000343
6 micrognathia HP:0000347
7 low-set ears HP:0000369
8 underdeveloped nasal alae HP:0000430
9 narrow nose HP:0000460
10 microcornea HP:0000482
11 downslanted palpebral fissures HP:0000494
12 telecanthus HP:0000506
13 cataract HP:0000518
14 myopia HP:0000545
15 microphthalmia HP:0000568
16 sparse eyelashes HP:0000653
17 macrodontia of permanent maxillary central incisor HP:0000675
18 dental crowding HP:0000678
19 abnormality of dental enamel HP:0000682
20 delayed eruption of teeth HP:0000684
21 hypoplasia of teeth HP:0000685
22 dental malocclusion HP:0000689
23 global developmental delay HP:0001263
24 failure to thrive HP:0001508
25 short foot HP:0001773
26 frontal bossing HP:0002007
27 delayed skeletal maturation HP:0002750
28 long nose HP:0003189
29 short stature HP:0004322
30 broad long bones HP:0005622
31 2-4 toe cutaneous syndactyly HP:0005768
32 fifth finger distal phalanx clinodactyly HP:0005769
33 abnormality of dental morphology HP:0006482
34 prominent epicanthal folds HP:0007930
35 large earlobe HP:0009748
36 persistent pupillary membrane HP:0009917
37 4-5 finger syndactyly HP:0010705
38 short palpebral fissure HP:0012745
39 small hand HP:0200055

Drugs & Therapeutics for Oculodentodigital Dysplasia, Autosomal Recessive

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Interventional clinical trials:

Search ClinicalTrials, 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 Recessive25

Anatomical Context for Oculodentodigital Dysplasia, Autosomal Recessive

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

34
Eye, 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:

5
id Gene Variation Type Significance SNP ID Assembly Location
1GJA1NM_000165.4(GJA1): c.97C> T (p.Arg33Ter)single nucleotide variantPathogenicrs121912970GRCh37Chr 6, 121768090: 121768090
2GJA1NM_000165.4(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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GO Terms for genes affiliated with Oculodentodigital Dysplasia, Autosomal Recessive

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Sources for Oculodentodigital Dysplasia, Autosomal Recessive

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet