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 52 70 27 12 68
Autosomal Recessive Oculodentoosseous Dysplasia 70
Autosomal Recessive Odd Syndrome 70
 
Autosomal Recessive Oddd 70
Autosomal Recessive Odod 70
Oddd-Ar 70

Characteristics:

HPO:

64
oculodentodigital dysplasia, autosomal recessive:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 257850
MedGen37 C2749477

Summaries for Oculodentodigital Dysplasia, Autosomal Recessive

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UniProtKB/Swiss-Prot:70 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:52 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 & Phenotypes 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:

 64 (show all 39)
id Description HPO Frequency HPO Source Accession
1 narrow mouth64 HP:0000160
2 thin vermilion border64 HP:0000233
3 brachycephaly64 HP:0000248
4 hypoplasia of the maxilla64 HP:0000327
5 long philtrum64 HP:0000343
6 micrognathia64 HP:0000347
7 low-set ears64 HP:0000369
8 underdeveloped nasal alae64 HP:0000430
9 narrow nose64 HP:0000460
10 microcornea64 HP:0000482
11 downslanted palpebral fissures64 HP:0000494
12 telecanthus64 HP:0000506
13 cataract64 HP:0000518
14 myopia64 HP:0000545
15 microphthalmia64 HP:0000568
16 sparse eyelashes64 HP:0000653
17 macrodontia of permanent maxillary central incisor64 HP:0000675
18 dental crowding64 HP:0000678
19 abnormality of dental enamel64 HP:0000682
20 delayed eruption of teeth64 HP:0000684
21 hypoplasia of teeth64 HP:0000685
22 dental malocclusion64 HP:0000689
23 global developmental delay64 HP:0001263
24 failure to thrive64 HP:0001508
25 short foot64 HP:0001773
26 frontal bossing64 HP:0002007
27 delayed skeletal maturation64 HP:0002750
28 long nose64 HP:0003189
29 short stature64 HP:0004322
30 broad long bones64 HP:0005622
31 2-4 toe cutaneous syndactyly64 HP:0005768
32 fifth finger distal phalanx clinodactyly64 HP:0005769
33 abnormality of dental morphology64 HP:0006482
34 prominent epicanthal folds64 HP:0007930
35 large earlobe64 HP:0009748
36 persistent pupillary membrane64 HP:0009917
37 4-5 finger syndactyly64 HP:0010705
38 short palpebral fissure64 HP:0012745
39 small hand64 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 Recessive27

Anatomical Context for Oculodentodigital Dysplasia, Autosomal Recessive

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

36
Eye, Bone

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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet