MCID: OCL047
MIFTS: 21

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 51 69 26 12 67
Autosomal Recessive Oculodentoosseous Dysplasia 69
Autosomal Recessive Odd Syndrome 69
 
Autosomal Recessive Oddd 69
Autosomal Recessive Odod 69
Oddd-Ar 69

Characteristics:

HPO:

63
oculodentodigital dysplasia, autosomal recessive:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 257850
MedGen36 C2749477

Summaries for Oculodentodigital Dysplasia, Autosomal Recessive

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UniProtKB/Swiss-Prot:69 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, is also known as autosomal recessive oculodentoosseous dysplasia, 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:51 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

Symptoms for Oculodentodigital Dysplasia, Autosomal Recessive

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Symptoms by clinical synopsis from OMIM:

257850

Clinical features from OMIM:

257850

Human phenotypes related to Oculodentodigital Dysplasia, Autosomal Recessive:

 63 (show all 39)
id Description HPO Frequency HPO Source Accession
1 narrow mouth63 HP:0000160
2 thin vermilion border63 HP:0000233
3 brachycephaly63 HP:0000248
4 hypoplasia of the maxilla63 HP:0000327
5 long philtrum63 HP:0000343
6 micrognathia63 HP:0000347
7 low-set ears63 HP:0000369
8 underdeveloped nasal alae63 HP:0000430
9 narrow nose63 HP:0000460
10 microcornea63 HP:0000482
11 downslanted palpebral fissures63 HP:0000494
12 telecanthus63 HP:0000506
13 cataract63 HP:0000518
14 myopia63 HP:0000545
15 microphthalmia63 HP:0000568
16 sparse eyelashes63 HP:0000653
17 macrodontia of permanent maxillary central incisor63 HP:0000675
18 dental crowding63 HP:0000678
19 abnormality of dental enamel63 HP:0000682
20 delayed eruption of teeth63 HP:0000684
21 hypoplasia of teeth63 HP:0000685
22 dental malocclusion63 HP:0000689
23 global developmental delay63 HP:0001263
24 failure to thrive63 HP:0001508
25 short foot63 HP:0001773
26 frontal bossing63 HP:0002007
27 delayed skeletal maturation63 HP:0002750
28 long nose63 HP:0003189
29 short stature63 HP:0004322
30 broad long bones63 HP:0005622
31 2-4 toe cutaneous syndactyly63 HP:0005768
32 fifth finger distal phalanx clinodactyly63 HP:0005769
33 abnormality of dental morphology63 HP:0006482
34 prominent epicanthal folds63 HP:0007930
35 large earlobe63 HP:0009748
36 persistent pupillary membrane63 HP:0009917
37 4-5 finger syndactyly63 HP:0010705
38 short palpebral fissure63 HP:0012745
39 small hand63 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 Recessive26

Anatomical Context for Oculodentodigital Dysplasia, Autosomal Recessive

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

35
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)SNVPathogenicrs121912970GRCh37Chr 6, 121768090: 121768090
2GJA1NM_000165.4(GJA1): c.227G> A (p.Arg76His)SNVPathogenicrs267606844GRCh37Chr 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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet