ODDD-AR
MCID: OCL047
MIFTS: 28

Oculodentodigital Dysplasia, Autosomal Recessive (ODDD-AR)

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

Aliases & Classifications for Oculodentodigital Dysplasia, Autosomal Recessive

MalaCards integrated aliases for Oculodentodigital Dysplasia, Autosomal Recessive:

Name: Oculodentodigital Dysplasia, Autosomal Recessive 57 72 29 13 6 39 70
Oculodentoosseous Dysplasia, Autosomal Recessive 57
Autosomal Recessive Oculodentoosseous Dysplasia 72
Autosomal Recessive Odd Syndrome 72
Oddd, Autosomal Recessive 57
Odod, Autosomal Recessive 57
Autosomal Recessive Oddd 72
Autosomal Recessive Odod 72
Oddd-Ar 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive


HPO:

31
oculodentodigital dysplasia, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Oculodentodigital Dysplasia, Autosomal Recessive

UniProtKB/Swiss-Prot : 72 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 failure to thrive and frontal bossing

More information 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

Human phenotypes related to Oculodentodigital Dysplasia, Autosomal Recessive:

31 (show all 40)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 31 HP:0001508
2 frontal bossing 31 HP:0002007
3 cataract 31 HP:0000518
4 delayed skeletal maturation 31 HP:0002750
5 dental malocclusion 31 HP:0000689
6 short stature 31 HP:0004322
7 brachycephaly 31 HP:0000248
8 micrognathia 31 HP:0000347
9 low-set ears 31 HP:0000369
10 epicanthus 31 HP:0000286
11 myopia 31 HP:0000545
12 hypoplasia of the maxilla 31 HP:0000327
13 dental crowding 31 HP:0000678
14 downslanted palpebral fissures 31 HP:0000494
15 delayed eruption of teeth 31 HP:0000684
16 narrow mouth 31 HP:0000160
17 microphthalmia 31 HP:0000568
18 long philtrum 31 HP:0000343
19 abnormality of dental enamel 31 HP:0000682
20 fine hair 31 HP:0002213
21 telecanthus 31 HP:0000506
22 large fontanelles 31 HP:0000239
23 small hand 31 HP:0200055
24 thin vermilion border 31 HP:0000233
25 microcornea 31 HP:0000482
26 large earlobe 31 HP:0009748
27 underdeveloped nasal alae 31 HP:0000430
28 long nose 31 HP:0003189
29 short foot 31 HP:0001773
30 mild global developmental delay 31 HP:0011342
31 sparse eyelashes 31 HP:0000653
32 broad long bones 31 HP:0005622
33 short palpebral fissure 31 HP:0012745
34 persistent pupillary membrane 31 HP:0009917
35 hypoplasia of teeth 31 HP:0000685
36 4-5 finger syndactyly 31 HP:0010705
37 narrow nose 31 HP:0000460
38 fifth finger distal phalanx clinodactyly 31 HP:0005769
39 macrodontia of permanent maxillary central incisor 31 HP:0000675
40 2-4 toe cutaneous syndactyly 31 HP:0005768

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Growth Other:
failure to thrive

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

Growth Height:
short stature

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

Head And Neck Mouth:
small mouth
thin lips

Skeletal Hands:
small hands
fifth-finger clinodactyly
variable cutaneous syndactyly involving fingers 3, 4, and 5
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
micrognathia
long philtrum
maxillary hypoplasia

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

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 (Updated 20-May-2021)

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:

40
Eye, Bone

Publications for Oculodentodigital Dysplasia, Autosomal Recessive

Articles related to Oculodentodigital Dysplasia, Autosomal Recessive:

(show all 16)
# Title Authors PMID Year
1
A nonsense mutation in the first transmembrane domain of connexin 43 underlies autosomal recessive oculodentodigital syndrome. 6 57
16816024 2006
2
A homozygous GJA1 gene mutation causes a Hallermann-Streiff/ODDD spectrum phenotype. 57 6
14974090 2004
3
Hallerman-Streiff syndrome: patient with decreased GH and insulin-like growth factor-1. 6 57
14981729 2004
4
Specific functional pathologies of Cx43 mutations associated with oculodentodigital dysplasia. 6
27226478 2016
5
Palmoplantar keratosis in oculodentodigital dysplasia with a GJA1 point mutation out of the C-terminal region of connexin 43. 6
25388818 2014
6
Autosomal recessive GJA1 (Cx43) gene mutations cause oculodentodigital dysplasia by distinct mechanisms. 6
23606748 2013
7
GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype. 6
19338053 2009
8
Novel mutations in GJA1 cause oculodentodigital syndrome. 6
18946008 2008
9
The conditional connexin43G138R mouse mutant represents a new model of hereditary oculodentodigital dysplasia in humans. 6
18003637 2008
10
Identification of the calmodulin binding domain of connexin 43. 6
17901047 2007
11
Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia. 6
12457340 2003
12
Persistent hyperplastic primary vitreous and recessive oculo-dento-osseous dysplasia. 57
3085500 1986
13
Oculodento-osseous dysplasia: heterogeneity or variable expression? 57
226298 1979
14
Orodigitofacial dysostosis and oculodentodigital dysplasia. Two distinct syndromes with some similarities. 57
4959813 1967
15
A HEREDITARY SYNDROME: "DYSPLASIA OCULODENTODIGITALIS. 57
14089388 1964
16
Closing the gap on autosomal dominant connexin-26 and connexin-43 mutants linked to human disease. 61
18089569 2008

Variations for Oculodentodigital Dysplasia, Autosomal Recessive

ClinVar genetic disease variations for Oculodentodigital Dysplasia, Autosomal Recessive:

6 (show all 35)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GJA1 NM_000165.5(GJA1):c.140A>T (p.Asp47Val) SNV Pathogenic 470213 rs1554200995 GRCh37: 6:121768133-121768133
GRCh38: 6:121446987-121446987
2 GJA1 NM_000165.5(GJA1):c.306G>C (p.Lys102Asn) SNV Pathogenic 537755 rs1554201011 GRCh37: 6:121768299-121768299
GRCh38: 6:121447153-121447153
3 GJA1 NM_000165.5(GJA1):c.412G>A (p.Gly138Ser) SNV Pathogenic 537756 rs1554201018 GRCh37: 6:121768405-121768405
GRCh38: 6:121447259-121447259
4 GJA1 NM_000165.5(GJA1):c.97C>T (p.Arg33Ter) SNV Pathogenic 16995 rs121912970 GRCh37: 6:121768090-121768090
GRCh38: 6:121446944-121446944
5 GJA1 NM_000165.5(GJA1):c.227G>A (p.Arg76His) SNV Pathogenic 16996 rs267606844 GRCh37: 6:121768220-121768220
GRCh38: 6:121447074-121447074
6 GJA1 NM_000165.5(GJA1):c.64G>A (p.Gly22Arg) SNV Pathogenic 844190 GRCh37: 6:121768057-121768057
GRCh38: 6:121446911-121446911
7 GJA1 NM_000165.5(GJA1):c.53C>A (p.Ser18Ter) SNV Pathogenic 941060 GRCh37: 6:121768046-121768046
GRCh38: 6:121446900-121446900
8 GJA1 NM_000165.5(GJA1):c.389T>C (p.Ile130Thr) SNV Pathogenic 470215 rs1554201017 GRCh37: 6:121768382-121768382
GRCh38: 6:121447236-121447236
9 GJA1 NM_000165.5(GJA1):c.413G>A (p.Gly138Asp) SNV Likely pathogenic 470216 rs1554201019 GRCh37: 6:121768406-121768406
GRCh38: 6:121447260-121447260
10 GJA1 NM_000165.5(GJA1):c.296T>A (p.Val99Glu) SNV Uncertain significance 470214 rs1554201009 GRCh37: 6:121768289-121768289
GRCh38: 6:121447143-121447143
11 GJA1 NM_000165.5(GJA1):c.577C>G (p.Pro193Ala) SNV Uncertain significance 941061 GRCh37: 6:121768570-121768570
GRCh38: 6:121447424-121447424
12 GJA1 NM_000165.5(GJA1):c.748A>G (p.Thr250Ala) SNV Uncertain significance 945923 GRCh37: 6:121768741-121768741
GRCh38: 6:121447595-121447595
13 GJA1 NM_000165.5(GJA1):c.743A>G (p.His248Arg) SNV Uncertain significance 961692 GRCh37: 6:121768736-121768736
GRCh38: 6:121447590-121447590
14 GJA1 NM_000165.5(GJA1):c.732C>A (p.Ser244Arg) SNV Uncertain significance 963921 GRCh37: 6:121768725-121768725
GRCh38: 6:121447579-121447579
15 GJA1 NM_000165.5(GJA1):c.905A>G (p.Asn302Ser) SNV Uncertain significance 1026214 GRCh37: 6:121768898-121768898
GRCh38: 6:121447752-121447752
16 GJA1 NM_000165.5(GJA1):c.162dup (p.Asn55Ter) Duplication Uncertain significance 1051914 GRCh37: 6:121768154-121768155
GRCh38: 6:121447008-121447009
17 GJA1 NM_000165.5(GJA1):c.353C>T (p.Thr118Ile) SNV Uncertain significance 1054914 GRCh37: 6:121768346-121768346
GRCh38: 6:121447200-121447200
18 GJA1 NM_000165.5(GJA1):c.1033A>G (p.Lys345Glu) SNV Uncertain significance 1056274 GRCh37: 6:121769026-121769026
GRCh38: 6:121447880-121447880
19 GJA1 NC_000006.11:g.(?_121767974)_(121769162_?)dup Duplication Uncertain significance 1063984 GRCh37: 6:121767974-121769162
GRCh38:
20 GJA1 NM_000165.5(GJA1):c.634T>A (p.Phe212Ile) SNV Uncertain significance 846056 GRCh37: 6:121768627-121768627
GRCh38: 6:121447481-121447481
21 GJA1 NM_000165.5(GJA1):c.526A>G (p.Ile176Val) SNV Uncertain significance 237121 rs878853696 GRCh37: 6:121768519-121768519
GRCh38: 6:121447373-121447373
22 GJA1 NM_000165.5(GJA1):c.65G>A (p.Gly22Glu) SNV Uncertain significance 16985 rs104893964 GRCh37: 6:121768058-121768058
GRCh38: 6:121446912-121446912
23 GJA1 NM_000165.5(GJA1):c.605G>A (p.Arg202His) SNV Uncertain significance 372744 rs750294638 GRCh37: 6:121768598-121768598
GRCh38: 6:121447452-121447452
24 GJA1 NM_000165.5(GJA1):c.120_131del (p.Val41_Ala44del) Deletion Uncertain significance 576300 rs1562173999 GRCh37: 6:121768109-121768120
GRCh38: 6:121446963-121446974
25 GJA1 NM_000165.5(GJA1):c.681A>T (p.Glu227Asp) SNV Uncertain significance 203468 rs875989815 GRCh37: 6:121768674-121768674
GRCh38: 6:121447528-121447528
26 GJA1 NM_000165.5(GJA1):c.814T>C (p.Ser272Pro) SNV Uncertain significance 580391 rs376074787 GRCh37: 6:121768807-121768807
GRCh38: 6:121447661-121447661
27 GJA1 NM_000165.5(GJA1):c.643G>A (p.Val215Met) SNV Uncertain significance 580570 rs1390364475 GRCh37: 6:121768636-121768636
GRCh38: 6:121447490-121447490
28 GJA1 NM_000165.5(GJA1):c.896G>T (p.Arg299Leu) SNV Uncertain significance 645312 rs778457698 GRCh37: 6:121768889-121768889
GRCh38: 6:121447743-121447743
29 GJA1 NM_000165.5(GJA1):c.365A>G (p.Asn122Ser) SNV Uncertain significance 651676 rs769704488 GRCh37: 6:121768358-121768358
GRCh38: 6:121447212-121447212
30 GJA1 NM_000165.5(GJA1):c.1127G>A (p.Arg376Gln) SNV Likely benign 16991 rs104893965 GRCh37: 6:121769120-121769120
GRCh38: 6:121447974-121447974
31 GJA1 NM_000165.5(GJA1):c.1128G>A (p.Arg376=) SNV Likely benign 355163 rs145215218 GRCh37: 6:121769121-121769121
GRCh38: 6:121447975-121447975
32 GJA1 NM_000165.5(GJA1):c.1085G>A (p.Arg362Gln) SNV Likely benign 16990 rs2227885 GRCh37: 6:121769078-121769078
GRCh38: 6:121447932-121447932
33 GJA1 NM_000165.5(GJA1):c.758C>T (p.Ala253Val) SNV Benign 137483 rs17653265 GRCh37: 6:121768751-121768751
GRCh38: 6:121447605-121447605
34 GJA1 NM_000165.5(GJA1):c.717G>A (p.Arg239=) SNV Benign 137482 rs57946868 GRCh37: 6:121768710-121768710
GRCh38: 6:121447564-121447564
35 GJA1 NM_000165.5(GJA1):c.837G>A (p.Ser279=) SNV Benign 355161 rs67407537 GRCh37: 6:121768830-121768830
GRCh38: 6:121447684-121447684

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

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33 ICD10 via Orphanet
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45 MESH via Orphanet
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71 UMLS via Orphanet
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