MCID: OCL047
MIFTS: 27

Oculodentodigital Dysplasia, Autosomal Recessive malady

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

Aliases & Classifications for Oculodentodigital Dysplasia, Autosomal Recessive

About this section

Aliases & Descriptions for Oculodentodigital Dysplasia, Autosomal Recessive:

Name: Oculodentodigital Dysplasia, Autosomal Recessive 49 11 24 67
Autosomal Recessive Oculodentoosseous Dysplasia 67
Autosomal Recessive Odd Syndrome 67
 
Autosomal Recessive Oddd 67
Autosomal Recessive Odod 67
Oddd-Ar 67


Classifications:



External Ids:

OMIM49 257850
MedGen34 C2749477

Summaries for Oculodentodigital Dysplasia, Autosomal Recessive

About this section
UniProtKB/Swiss-Prot:67 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 palmoplantar keratoderma with congenital alopecia and oculodentodigital dysplasia, autosomal recessive, and has symptoms including autosomal recessive inheritance, narrow mouth and thin vermilion border. An important gene associated with Oculodentodigital Dysplasia, Autosomal Recessive is GJA1 (Gap Junction Protein, Alpha 1, 43kDa). Affiliated tissues include eye, bone and skin.

Description from OMIM:49 257850

Related Diseases for Oculodentodigital Dysplasia, Autosomal Recessive

About this section

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
1palmoplantar keratoderma with congenital alopecia9.9GFER, GJA1
2oculodentodigital dysplasia, autosomal recessive9.9GFER, GJA1
3hypoplastic left heart syndrome 19.9GFER, GJA1
4atrioventricular septal defect 39.8GFER, GJA1
5craniometaphyseal dysplasia, autosomal recessive9.8GFER, GJA1
6erythrokeratodermia variabilis et progressiva9.8GFER, GJA1
7syndactyly, type iii9.8GFER, GJA1
8oculodentodigital dysplasia9.7GFER, GJA1

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



Diseases related to oculodentodigital dysplasia, autosomal recessive

Symptoms for Oculodentodigital Dysplasia, Autosomal Recessive

About this section

Symptoms by clinical synopsis from OMIM:

257850

Clinical features from OMIM:

257850

HPO human phenotypes related to Oculodentodigital Dysplasia, Autosomal Recessive:

(show all 40)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 narrow mouth HP:0000160
3 thin vermilion border HP:0000233
4 brachycephaly HP:0000248
5 hypoplasia of the maxilla HP:0000327
6 long philtrum HP:0000343
7 micrognathia HP:0000347
8 low-set ears HP:0000369
9 underdeveloped nasal alae HP:0000430
10 narrow nose HP:0000460
11 microcornea HP:0000482
12 downslanted palpebral fissures HP:0000494
13 telecanthus HP:0000506
14 cataract HP:0000518
15 myopia HP:0000545
16 microphthalmos HP:0000568
17 sparse eyelashes HP:0000653
18 macrodontia of permanent maxillary central incisor HP:0000675
19 dental crowding HP:0000678
20 abnormality of dental enamel HP:0000682
21 delayed eruption of teeth HP:0000684
22 hypoplasia of teeth HP:0000685
23 dental malocclusion HP:0000689
24 global developmental delay HP:0001263
25 failure to thrive HP:0001508
26 short foot HP:0001773
27 frontal bossing HP:0002007
28 delayed skeletal maturation HP:0002750
29 long nose HP:0003189
30 short stature HP:0004322
31 broad long bones HP:0005622
32 2-4 toe cutaneous syndactyly HP:0005768
33 fifth finger distal phalanx clinodactyly HP:0005769
34 abnormality of dental morphology HP:0006482
35 prominent epicanthal folds HP:0007930
36 large earlobe HP:0009748
37 persistent pupillary membrane HP:0009917
38 4-5 finger syndactyly HP:0010705
39 short palpebral fissure HP:0012745
40 small hand HP:0200055

Drugs & Therapeutics for Oculodentodigital Dysplasia, Autosomal Recessive

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Oculodentodigital Dysplasia, Autosomal Recessive

Genetic Tests for Oculodentodigital Dysplasia, Autosomal Recessive

About this section

Genetic tests related to Oculodentodigital Dysplasia, Autosomal Recessive:

id Genetic test Affiliating Genes
1 Oculodentodigital Dysplasia, Autosomal Recessive24

Anatomical Context for Oculodentodigital Dysplasia, Autosomal Recessive

About this section

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

33
Eye, Bone, Skin

Animal Models for Oculodentodigital Dysplasia, Autosomal Recessive or affiliated genes

About this section

Publications for Oculodentodigital Dysplasia, Autosomal Recessive

About this section

Variations for Oculodentodigital Dysplasia, Autosomal Recessive

About this section

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

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

Pathways for genes affiliated with Oculodentodigital Dysplasia, Autosomal Recessive

About this section

GO Terms for genes affiliated with Oculodentodigital Dysplasia, Autosomal Recessive

About this section

Sources for Oculodentodigital Dysplasia, Autosomal Recessive

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet