MCID: OCL047
MIFTS: 24

Oculodentodigital Dysplasia, Autosomal Recessive

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

Aliases & Classifications for Oculodentodigital Dysplasia, Autosomal Recessive

MalaCards integrated aliases for Oculodentodigital Dysplasia, Autosomal Recessive:

Name: Oculodentodigital Dysplasia, Autosomal Recessive 57 75 29 13 6 40 73
Oculodentoosseous Dysplasia, Autosomal Recessive 57
Autosomal Recessive Oculodentoosseous Dysplasia 75
Autosomal Recessive Odd Syndrome 75
Oddd, Autosomal Recessive 57
Odod, Autosomal Recessive 57
Autosomal Recessive Oddd 75
Autosomal Recessive Odod 75
Oddd-Ar 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
oculodentodigital dysplasia, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Oculodentodigital Dysplasia, Autosomal Recessive

UniProtKB/Swiss-Prot : 75 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. An important gene associated with Oculodentodigital Dysplasia, Autosomal Recessive is GJA1 (Gap Junction Protein Alpha 1). Affiliated tissues include eye and bone, and related phenotypes are low-set ears and frontal bossing

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:

57
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:

32 (show all 38)
# 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 delayed skeletal maturation 32 HP:0002750
7 short stature 32 HP:0004322
8 brachycephaly 32 HP:0000248
9 long philtrum 32 HP:0000343
10 micrognathia 32 HP:0000347
11 delayed eruption of teeth 32 HP:0000684
12 epicanthus 32 HP:0000286
13 short foot 32 HP:0001773
14 myopia 32 HP:0000545
15 underdeveloped nasal alae 32 HP:0000430
16 telecanthus 32 HP:0000506
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 broad long bones 32 HP:0005622
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 mild global developmental delay 32 HP:0011342
30 sparse eyelashes 32 HP:0000653
31 short palpebral fissure 32 HP:0012745
32 narrow nose 32 HP:0000460
33 persistent pupillary membrane 32 HP:0009917
34 hypoplasia of teeth 32 HP:0000685
35 fifth finger distal phalanx clinodactyly 32 HP:0005769
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

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 29 GJA1

Anatomical Context for Oculodentodigital Dysplasia, Autosomal Recessive

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

41
Eye, Bone

Publications for Oculodentodigital Dysplasia, Autosomal Recessive

Variations for Oculodentodigital Dysplasia, Autosomal Recessive

ClinVar genetic disease variations for Oculodentodigital Dysplasia, Autosomal Recessive:

6
(show all 20)
# 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.97C> T (p.Arg33Ter) single nucleotide variant Pathogenic rs121912970 GRCh38 Chromosome 6, 121446944: 121446944
3 GJA1 NM_000165.4(GJA1): c.227G> A (p.Arg76His) single nucleotide variant Pathogenic rs267606844 GRCh37 Chromosome 6, 121768220: 121768220
4 GJA1 NM_000165.4(GJA1): c.227G> A (p.Arg76His) single nucleotide variant Pathogenic rs267606844 GRCh38 Chromosome 6, 121447074: 121447074
5 GJA1 NM_000165.4(GJA1): c.526A> G (p.Ile176Val) single nucleotide variant Uncertain significance rs878853696 GRCh38 Chromosome 6, 121447373: 121447373
6 GJA1 NM_000165.4(GJA1): c.526A> G (p.Ile176Val) single nucleotide variant Uncertain significance rs878853696 GRCh37 Chromosome 6, 121768519: 121768519
7 GJA1 NM_000165.4(GJA1): c.1128G> A (p.Arg376=) single nucleotide variant Likely benign rs145215218 GRCh37 Chromosome 6, 121769121: 121769121
8 GJA1 NM_000165.4(GJA1): c.1128G> A (p.Arg376=) single nucleotide variant Likely benign rs145215218 GRCh38 Chromosome 6, 121447975: 121447975
9 GJA1 NM_000165.4(GJA1): c.140A> T (p.Asp47Val) single nucleotide variant Pathogenic GRCh37 Chromosome 6, 121768133: 121768133
10 GJA1 NM_000165.4(GJA1): c.140A> T (p.Asp47Val) single nucleotide variant Pathogenic GRCh38 Chromosome 6, 121446987: 121446987
11 GJA1 NM_000165.4(GJA1): c.296T> A (p.Val99Glu) single nucleotide variant Uncertain significance GRCh37 Chromosome 6, 121768289: 121768289
12 GJA1 NM_000165.4(GJA1): c.296T> A (p.Val99Glu) single nucleotide variant Uncertain significance GRCh38 Chromosome 6, 121447143: 121447143
13 GJA1 NM_000165.4(GJA1): c.389T> C (p.Ile130Thr) single nucleotide variant Pathogenic GRCh37 Chromosome 6, 121768382: 121768382
14 GJA1 NM_000165.4(GJA1): c.389T> C (p.Ile130Thr) single nucleotide variant Pathogenic GRCh38 Chromosome 6, 121447236: 121447236
15 GJA1 NM_000165.4(GJA1): c.413G> A (p.Gly138Asp) single nucleotide variant Likely pathogenic GRCh38 Chromosome 6, 121447260: 121447260
16 GJA1 NM_000165.4(GJA1): c.413G> A (p.Gly138Asp) single nucleotide variant Likely pathogenic GRCh37 Chromosome 6, 121768406: 121768406
17 GJA1 NM_000165.4(GJA1): c.412G> A (p.Gly138Ser) single nucleotide variant Pathogenic GRCh38 Chromosome 6, 121447259: 121447259
18 GJA1 NM_000165.4(GJA1): c.412G> A (p.Gly138Ser) single nucleotide variant Pathogenic GRCh37 Chromosome 6, 121768405: 121768405
19 GJA1 NM_000165.4(GJA1): c.306G> C (p.Lys102Asn) single nucleotide variant Uncertain significance GRCh37 Chromosome 6, 121768299: 121768299
20 GJA1 NM_000165.4(GJA1): c.306G> C (p.Lys102Asn) single nucleotide variant Uncertain significance GRCh38 Chromosome 6, 121447153: 121447153

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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
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40 LOVD
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44 MeSH
45 MESH via Orphanet
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49 NCI
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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