MCID: OCL047
MIFTS: 24

Oculodentodigital Dysplasia, Autosomal Recessive

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

Aliases & Classifications for Oculodentodigital Dysplasia, Autosomal Recessive

MalaCards integrated aliases for Oculodentodigital Dysplasia, Autosomal Recessive:

Name: Oculodentodigital Dysplasia, Autosomal Recessive 53 71 28 13 69
Oculodentoosseous Dysplasia, Autosomal Recessive 53
Autosomal Recessive Oculodentoosseous Dysplasia 71
Autosomal Recessive Odd Syndrome 71
Oddd, Autosomal Recessive 53
Odod, Autosomal Recessive 53
Autosomal Recessive Oddd 71
Autosomal Recessive Odod 71
Oddd-Ar 71

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive


HPO:

31
oculodentodigital dysplasia, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Oculodentodigital Dysplasia, Autosomal Recessive

UniProtKB/Swiss-Prot : 71 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 oculodentoosseous dysplasia, autosomal recessive, 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 via clinical synopsis from OMIM:

53
Head And Neck Ears:
low-set ears
prominent ear lobes

Skeletal Skull:
frontal bossing
brachycephaly
large fontanelles at birth
widely separated sutures at birth

Head And Neck Eyes:
cataract
myopia
telecanthus
microphthalmia
microcornea
more
Head And Neck Head:
brachycephaly

Head And Neck Mouth:
small mouth
thin lips

Skeletal Hands:
small hands
variable cutaneous syndactyly involving fingers 3, 4, and 5
fifth-finger clinodactyly
enlarged distal interphalangeal joints

Head And Neck Nose:
hypoplastic nasal alae
long narrow nose

Neurologic Central Nervous System:
hypotonia at birth
psychomotor retardation, mild
abnormal gray and white matter differentiation in frontal, occipital, and cerebellar regions on ct scan

Head And Neck Face:
frontal bossing
long philtrum
micrognathia
maxillary hypoplasia

Growth Other:
failure to thrive

Growth Height:
short stature

Head And Neck Teeth:
dental crowding
malocclusion
delayed tooth eruption
hypoplastic teeth
prominent upper incisors

Skeletal:
delayed bone age

Skeletal Feet:
small feet
enlarged distal interphalangeal joints

Skin Nails Hair Hair:
sparse fine hair

Endocrine Features:
low insulin-like growth factor-i (igf1 ) levels
abnormal growth hormone response to stimulus


Clinical features from OMIM:

257850

Human phenotypes related to Oculodentodigital Dysplasia, Autosomal Recessive:

31 (show all 39)
# Description HPO Frequency HPO Source Accession
1 low-set ears 31 HP:0000369
2 frontal bossing 31 HP:0002007
3 failure to thrive 31 HP:0001508
4 cataract 31 HP:0000518
5 dental malocclusion 31 HP:0000689
6 delayed skeletal maturation 31 HP:0002750
7 short stature 31 HP:0004322
8 brachycephaly 31 HP:0000248
9 long philtrum 31 HP:0000343
10 micrognathia 31 HP:0000347
11 delayed eruption of teeth 31 HP:0000684
12 epicanthus 31 HP:0000286
13 short foot 31 HP:0001773
14 myopia 31 HP:0000545
15 underdeveloped nasal alae 31 HP:0000430
16 telecanthus 31 HP:0000506
17 microphthalmia 31 HP:0000568
18 small hand 31 HP:0200055
19 hypoplasia of the maxilla 31 HP:0000327
20 dental crowding 31 HP:0000678
21 downslanted palpebral fissures 31 HP:0000494
22 narrow mouth 31 HP:0000160
23 abnormality of dental enamel 31 HP:0000682
24 abnormality of dental morphology 31 HP:0006482
25 broad long bones 31 HP:0005622
26 thin vermilion border 31 HP:0000233
27 microcornea 31 HP:0000482
28 large earlobe 31 HP:0009748
29 long nose 31 HP:0003189
30 mild global developmental delay 31 HP:0011342
31 sparse eyelashes 31 HP:0000653
32 short palpebral fissure 31 HP:0012745
33 narrow nose 31 HP:0000460
34 persistent pupillary membrane 31 HP:0009917
35 hypoplasia of teeth 31 HP:0000685
36 fifth finger distal phalanx clinodactyly 31 HP:0005769
37 macrodontia of permanent maxillary central incisor 31 HP:0000675
38 4-5 finger syndactyly 31 HP:0010705
39 2-4 toe cutaneous syndactyly 31 HP:0005768

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:

# Genetic test Affiliating Genes
1 Oculodentodigital Dysplasia, Autosomal Recessive 28 GJA1

Anatomical Context for Oculodentodigital Dysplasia, Autosomal Recessive

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

38
Eye, Bone

Publications for Oculodentodigital Dysplasia, Autosomal Recessive

Variations for Oculodentodigital Dysplasia, Autosomal Recessive

ClinVar genetic disease variations for Oculodentodigital Dysplasia, Autosomal Recessive:

6
# 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
3 GJA1 NM_000165.4(GJA1): c.140A> T (p.Asp47Val) single nucleotide variant Pathogenic GRCh38 Chromosome 6, 121446987: 121446987
4 GJA1 NM_000165.4(GJA1): c.389T> C (p.Ile130Thr) single nucleotide variant Pathogenic GRCh38 Chromosome 6, 121447236: 121447236
5 GJA1 NM_000165.4(GJA1): c.413G> A (p.Gly138Asp) single nucleotide variant Likely pathogenic GRCh38 Chromosome 6, 121447260: 121447260

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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
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47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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