MCID: OCL047
MIFTS: 27

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 49 11 67 24 65
Autosomal Recessive Oculodentoosseous Dysplasia 67
Autosomal Recessive Odd Syndrome 67
 
Autosomal Recessive Oddd 67
Autosomal Recessive Odod 67
Oddd-Ar 67

Characteristics:

HPO:

61
oculodentodigital dysplasia, autosomal recessive:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 257850
MedGen34 C2749477
UMLS65 C2749477

Summaries for Oculodentodigital Dysplasia, Autosomal Recessive

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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 chromosome 6pter-p24 deletion syndrome and craniometaphyseal dysplasia, autosomal recessive, and has symptoms including small hand, short palpebral fissure and 4-5 finger syndactyly. An important gene associated with Oculodentodigital Dysplasia, Autosomal Recessive is GJA1 (Gap Junction Protein Alpha 1). Affiliated tissues include eye, bone and skin.

Description from OMIM:49 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 iii9.3GFER, 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 small hand HP:0200055
2 short palpebral fissure HP:0012745
3 4-5 finger syndactyly HP:0010705
4 persistent pupillary membrane HP:0009917
5 large earlobe HP:0009748
6 prominent epicanthal folds HP:0007930
7 abnormality of dental morphology HP:0006482
8 fifth finger distal phalanx clinodactyly HP:0005769
9 2-4 toe cutaneous syndactyly HP:0005768
10 broad long bones HP:0005622
11 short stature HP:0004322
12 long nose HP:0003189
13 delayed skeletal maturation HP:0002750
14 frontal bossing HP:0002007
15 short foot HP:0001773
16 failure to thrive HP:0001508
17 global developmental delay HP:0001263
18 dental malocclusion HP:0000689
19 hypoplasia of teeth HP:0000685
20 delayed eruption of teeth HP:0000684
21 abnormality of dental enamel HP:0000682
22 dental crowding HP:0000678
23 macrodontia of permanent maxillary central incisor HP:0000675
24 sparse eyelashes HP:0000653
25 microphthalmia HP:0000568
26 myopia HP:0000545
27 cataract HP:0000518
28 telecanthus HP:0000506
29 downslanted palpebral fissures HP:0000494
30 microcornea HP:0000482
31 narrow nose HP:0000460
32 underdeveloped nasal alae HP:0000430
33 low-set ears HP:0000369
34 micrognathia HP:0000347
35 long philtrum HP:0000343
36 hypoplasia of the maxilla HP:0000327
37 brachycephaly HP:0000248
38 thin vermilion border HP:0000233
39 narrow mouth HP:0000160

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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Anatomical Context for Oculodentodigital Dysplasia, Autosomal Recessive

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

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Eye, Bone, Skin, Heart

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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Cellular components related to Oculodentodigital Dysplasia, Autosomal Recessive according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1mitochondrionGO:00057399.1GFER, GJA1

Sources for Oculodentodigital Dysplasia, Autosomal Recessive

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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