ODDD-AR
MCID: OCL047
MIFTS: 22

Oculodentodigital Dysplasia, Autosomal Recessive (ODDD-AR) malady

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

Aliases & Classifications for Oculodentodigital Dysplasia, Autosomal Recessive

Aliases & Descriptions for Oculodentodigital Dysplasia, Autosomal Recessive:

Name: Oculodentodigital Dysplasia, Autosomal Recessive 54 66 29 13 69
Autosomal Recessive Oculodentoosseous Dysplasia 66
Autosomal Recessive Odd Syndrome 66
Autosomal Recessive Oddd 66
Autosomal Recessive Odod 66
Oddd-Ar 66

Characteristics:

HPO:

32
oculodentodigital dysplasia, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 257850
MedGen 40 C2749477

Summaries for Oculodentodigital Dysplasia, Autosomal Recessive

UniProtKB/Swiss-Prot : 66 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 low-set ears, frontal bossing and failure to thrive. 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: 257850

Related Diseases for Oculodentodigital Dysplasia, Autosomal Recessive

Diseases in the Oculodentodigital Dysplasia family:

Oculodentodigital Dysplasia, Autosomal Recessive Oculodentodigital Dysplasia Dominant

Symptoms & Phenotypes for Oculodentodigital Dysplasia, Autosomal Recessive

Symptoms by clinical synopsis from OMIM:

257850

Clinical features from OMIM:

257850

Human phenotypes related to Oculodentodigital Dysplasia, Autosomal Recessive:

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

Drugs & Therapeutics for Oculodentodigital Dysplasia, Autosomal Recessive

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

Genetic Tests for Oculodentodigital Dysplasia, Autosomal Recessive

Genetic tests related to Oculodentodigital Dysplasia, Autosomal Recessive:

id Genetic test Affiliating Genes
1 Oculodentodigital Dysplasia, Autosomal Recessive 29

Anatomical Context for Oculodentodigital Dysplasia, Autosomal Recessive

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

39
Eye, Bone

Publications for Oculodentodigital Dysplasia, Autosomal Recessive

Variations for Oculodentodigital Dysplasia, Autosomal Recessive

ClinVar genetic disease variations for Oculodentodigital Dysplasia, Autosomal Recessive:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 GJA1 NM_000165.4(GJA1): c.97C> T (p.Arg33Ter) single nucleotide variant Pathogenic rs121912970 GRCh37 Chromosome 6, 121768090: 121768090
2 GJA1 NM_000165.4(GJA1): c.227G> A (p.Arg76His) single nucleotide variant Pathogenic rs267606844 GRCh37 Chromosome 6, 121768220: 121768220

Expression for Oculodentodigital Dysplasia, Autosomal Recessive

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

Pathways for Oculodentodigital Dysplasia, Autosomal Recessive

GO Terms for Oculodentodigital Dysplasia, Autosomal Recessive

Sources for Oculodentodigital Dysplasia, Autosomal Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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