Hearing Loss Disease Portal


 
Switch to table view
Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandCraniofacial Abnormalities (D019465)
Parent Node:
expandEye Abnormalities (D005124)
Parent Node:
expandSyndactyly (D013576)
Parent Node:
expandTooth Abnormalities (D014071)
..Starting node
..expandOculodentodigital Dysplasia, Autosomal Recessive (C567605)

       Child Nodes:



 Sister Nodes: 
..expandAckerman syndrome (C538170)
..expandAnodontia (D000848) Child29
..expandAREDYLD Syndrome (C537427)
..expandBlepharo-cheilo-dontic syndrome (C536188)
..expandBook Syndrome (C562993)
..expandCarabelli Anomaly of Maxillary Molar Teeth (C566175)
..expandCleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only (C563974)
..expandCODAS syndrome (C536434)
..expandDeafness with Labyrinthine Aplasia Microtia and Microdontia (LAMM) (C548011)
..expandDeafness, Congenital, and Onychodystrophy, Autosomal Dominant (C567274)
..expandDeafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia (C565195)
..expandDens in Dente (D003719) Child1
..expandDental Enamel Hypoplasia (D003744) Child29
..expandDentin Dysplasia (D003805) Child3
..expandDentinogenesis Imperfecta (D003811) Child7
..expandDermoodontodysplasia (C565103)
..expandDiastema, Dental Medial (C565098)
..expandEuhidrotic ectodermal dysplasia (C535763)
..expandFacial Dysmorphism, Selective Tooth Agenesis, and Choroid Calcification (C567039)
..expandFaciocardiomelic Dysplasia, Lethal (C565578)
..expandFused Teeth (D005671)
..expandGrubben de Cock Borghgraef syndrome (C537621)
..expandHypoglossia-Hypodactylia (C566308)
..expandIridogoniodysgenesis, dominant type (C535536)
..expandKallmann Syndrome 2 with Selective Tooth Agenesis (C566948)
..expandKBG syndrome (C537015)
..expandLacrimoauriculodentodigital syndrome (C538132)
..expandLarsen syndrome, dominant type (C537873)
..expandNance-Horan syndrome (C538336)
..expandOculodentodigital Dysplasia (C563160)
..expandOculodentodigital Dysplasia, Autosomal Recessive (C567605)
..expandOculotrichodysplasia (C564934)
..expandOdontodysplasia (D018126) Child3
..expandOdontomicronychial dysplasia (C537741)
..expandOdontotrichoungual-Digital-Palmar Syndrome (C566598)
..expandOroacral Syndrome, Verloes-Koulischer Type (C566374)
..expandOtodental Dysplasia (C563482)
..expandPolydactyly, Postaxial, with Dental and Vertebral Anomalies (C564880)
..expandRodrigues blindness (C535865)
..expandSpondyloepimetaphyseal Dysplasia With Abnormal Dentition (C566644)
..expandTaurodontism (C536946)
..expandTaurodontism, microdontia, and dens invaginatus (C536947)
..expandTeeth noneruption of with maxillary hypoplasia and genu valgum (C536952)
..expandTeeth, Odd Shapes Of (C566076)
..expandTemtamy preaxial brachydactyly syndrome (C536958)
..expandTooth Agenesis, Selective, 2 (C566513)
..expandTooth Agenesis, Selective, 3 (C567036)
..expandTooth Agenesis, Selective, 4 (C563634)
..expandTooth Agenesis, Selective, 5 (C565757)
..expandTooth Agenesis, Selective, 6 (C567755)
..expandTooth Agenesis, Selective, X-Linked, 1 (C567060)
..expandTooth, Supernumerary (D014096) Child3
..expandTricho-dento-osseous syndrome 1 (C536550)
..expandTRICHODENTOOSSEOUS SYNDROME (OMIM:190320)
..expandWeyers acrofacial dysostosis (C536695)
..expandZazam Sheriff Phillips syndrome (C536723)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:8184
Name:Oculodentodigital Dysplasia, Autosomal Recessive
Definition:
Alternative IDs:OMIM:257850
ParentIDs:MESH:D005124|MESH:D013576|MESH:D014071|MESH:D019465
TreeNumbers:C05.116.099.370.894.819/C567605 |C05.660.207/C567605 |C05.660.585.800/C567605 |C05.660.906.819/C567605 |C07.650.800/C567605 |C07.793.700/C567605 |C11.250/C567605 |C16.131.384/C567605 |C16.131.621.207/C567605 |C16.131.621.585.800/C567605 |C16.131.621.906.819/C56760
Synonyms:Oculodentoosseous Dysplasia, Autosomal Recessive |ODDD, AUTOSOMAL RECESSIVE |ODOD, AUTOSOMAL RECESSIVE
Slim Mappings:Congenital abnormality|Eye disease|Mouth disease|Musculoskeletal disease
Reference: MedGen: C567605
MeSH: C567605
OMIM: 257850;

Genes: GJA1;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:00057682-4 toe cutaneous syndactyly
3 HP:00107054-5 finger syndactyly
4 HP:0000682Abnormal dental enamel morphology
5 HP:0000248Brachycephaly
6 HP:0005622Broad long bones
7 HP:0000518Cataract
8 HP:0000684Delayed eruption of teeth
9 HP:0002750Delayed skeletal maturation
10 HP:0000678Dental crowding
11 HP:0000689Dental malocclusion
12 HP:0000494Downslanted palpebral fissures
13 HP:0000286Epicanthus
14 HP:0001508Failure to thrive
15 HP:0005769Fifth finger distal phalanx clinodactyly
16 HP:0002007Frontal bossing
17 HP:0000685Hypoplasia of teeth
18 HP:0000327Hypoplasia of the maxilla
19 HP:0009748Large earlobe
20 HP:0003189Long nose
21 HP:0000343Long philtrum
22 HP:0000369Low-set ears
23 HP:0000675Macrodontia of permanent maxillary central incisor
24 HP:0000482Microcornea
25 HP:0000347Micrognathia
26 HP:0000568Microphthalmia
27 HP:0011342Mild global developmental delay
28 HP:0000545Myopia
29 HP:0000160Narrow mouth
30 HP:0000460Narrow nose
31 HP:0009917Persistent pupillary membrane
32 HP:0001773Short foot
33 HP:0012745Short palpebral fissure
34 HP:0004322Short stature
35 HP:0200055Small hand
36 HP:0000653Sparse eyelashes
37 HP:0000506Telecanthus
38 HP:0000233Thin vermilion border
39 HP:0000430Underdeveloped nasal alae
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_000165.4(GJA1):c.97C>T (p.Arg33Ter)2697GJA1Pathogenic121912970RCV000018518; NMedGen:C2749477,OMIM:2578506121768090121768090NM_000165.4:c.97C>TNP_000156.1:p.Arg33TerNC_000006.11:g.121768090C>TOMIM Allelic Variant:121014.0016C2749477 257850 Oculodentodigital dysplasia, autosomal recessive
NM_000165.4(GJA1):c.227G>A (p.Arg76His)2697GJA1Pathogenic267606844RCV000018519; NMedGen:C2749477,OMIM:2578506121768220121768220NM_000165.4:c.227G>ANP_000156.1:p.Arg76HisNC_000006.11:g.121768220G>AOMIM Allelic Variant:121014.0017C2749477 257850 Oculodentodigital dysplasia, autosomal recessive