Disease browser and phenotype portal

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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: Craniofacial Abnormalities (D019465)
Parent Node: Eye Abnormalities (D005124)
Parent Node: Foot Deformities, Congenital (D005532)
Parent Node: Syndactyly (D013576)
Parent Node: Tooth Abnormalities (D014071)
..Starting node ..Oculodentodigital Dysplasia (C563160)
Child Nodes:
Sister Nodes:
..Ackerman syndrome (C538170)
..Anodontia (D000848) 29
..AREDYLD Syndrome (C537427)
..Blepharo-cheilo-dontic syndrome (C536188)
..Book Syndrome (C562993)
..Carabelli Anomaly of Maxillary Molar Teeth (C566175)
..Cleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only (C563974)
..CODAS syndrome (C536434)
..Deafness with Labyrinthine Aplasia Microtia and Microdontia (LAMM) (C548011)
..Deafness, Congenital, and Onychodystrophy, Autosomal Dominant (C567274)
..Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia (C565195)
..Dens in Dente (D003719) 1
..Dental Enamel Hypoplasia (D003744) 29
..Dentin Dysplasia (D003805) 3
..Dentinogenesis Imperfecta (D003811) 7
..Dermoodontodysplasia (C565103)
..Diastema, Dental Medial (C565098)
..Euhidrotic ectodermal dysplasia (C535763)
..Facial Dysmorphism, Selective Tooth Agenesis, and Choroid Calcification (C567039)
..Faciocardiomelic Dysplasia, Lethal (C565578)
..Fused Teeth (D005671)
..Grubben de Cock Borghgraef syndrome (C537621)
..Hypoglossia-Hypodactylia (C566308)
..Iridogoniodysgenesis, dominant type (C535536)
..Kallmann Syndrome 2 with Selective Tooth Agenesis (C566948)
..KBG syndrome (C537015)
..Lacrimoauriculodentodigital syndrome (C538132)
..Larsen syndrome, dominant type (C537873)
..Nance-Horan syndrome (C538336)
..Oculodentodigital Dysplasia (C563160)
..Oculodentodigital Dysplasia, Autosomal Recessive (C567605)
..Oculotrichodysplasia (C564934)
..Odontodysplasia (D018126) 3
..Odontomicronychial dysplasia (C537741)
..Odontotrichoungual-Digital-Palmar Syndrome (C566598)
..Oroacral Syndrome, Verloes-Koulischer Type (C566374)
..Otodental Dysplasia (C563482)
..Polydactyly, Postaxial, with Dental and Vertebral Anomalies (C564880)
..Rodrigues blindness (C535865)
..Spondyloepimetaphyseal Dysplasia With Abnormal Dentition (C566644)
..Taurodontism (C536946)
..Taurodontism, microdontia, and dens invaginatus (C536947)
..Teeth noneruption of with maxillary hypoplasia and genu valgum (C536952)
..Teeth, Odd Shapes Of (C566076)
..Temtamy preaxial brachydactyly syndrome (C536958)
..Tooth Agenesis, Selective, 2 (C566513)
..Tooth Agenesis, Selective, 3 (C567036)
..Tooth Agenesis, Selective, 4 (C563634)
..Tooth Agenesis, Selective, 5 (C565757)
..Tooth Agenesis, Selective, 6 (C567755)
..Tooth Agenesis, Selective, X-Linked, 1 (C567060)
..Tooth, Supernumerary (D014096) 3
..Tricho-dento-osseous syndrome 1 (C536550)
..TRICHODENTOOSSEOUS SYNDROME (OMIM:190320)
..Weyers acrofacial dysostosis (C536695)
..Zazam Sheriff Phillips syndrome (C536723)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

8183

Name:

Oculodentodigital Dysplasia

Definition:

Alternative IDs:

OMIM:164200

ParentIDs:

MESH:D005124|MESH:D005532|MESH:D013576|MESH:D014071|MESH:D019465

TreeNumbers:

C05.116.099.370.894.819/C563160 |C05.330.495/C563160 |C05.660.207/C563160 |C05.660.585.512.380/C563160 |C05.660.585.800/C563160 |C05.660.906.819/C563160 |C07.650.800/C563160 |C07.793.700/C563160 |C11.250/C563160 |C16.131.384/C563160 |C16.131.621.207/C563160 |C16.13

Synonyms:

Slim Mappings:

Congenital abnormality|Eye disease|Mouth disease|Musculoskeletal disease

Reference:

MedGen: C563160
MeSH: C563160
OMIM: 164200;

Genes: GJA1;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0009779	3-4 toe syndactyly
3	HP:0010705	4-5 finger syndactyly
4	HP:0002500	Abnormal cerebral white matter morphology
5	HP:0000377	Abnormality of the pinna	HP:0040283
6	HP:0011675	Arrhythmia	HP:0040283
7	HP:0001251	Ataxia
8	HP:0001631	Atrial septal defect	HP:0040283
9	HP:0002135	Basal ganglia calcification
10	HP:0000581	Blepharophimosis
11	HP:0000187	Broad alveolar ridges
12	HP:0000670	Carious teeth
13	HP:0000518	Cataract
14	HP:0000175	Cleft palate
15	HP:0000204	Cleft upper lip
16	HP:0030084	Clinodactyly
17	HP:0000405	Conductive hearing impairment
18	HP:0002967	Cubitus valgus
19	HP:0011359	Dry hair
20	HP:0001260	Dysarthria
21	HP:0006297	Enamel hypoplasia
22	HP:0000286	Epicanthus
23	HP:0002213	Fine hair
24	HP:0001808	Fragile nails
25	HP:0000501	Glaucoma
26	HP:0002827	Hip dislocation
27	HP:0006801	Hyperactive deep tendon reflexes
28	HP:0001249	Intellectual disability
29	HP:0009183	Joint contracture of the 5th finger
30	HP:0000252	Microcephaly
31	HP:0000482	Microcornea
32	HP:0000691	Microdontia
33	HP:0000568	Microphthalmia
34	HP:0000446	Narrow nasal bridge
35	HP:0000011	Neurogenic bladder	HP:0040283
36	HP:0000011	Neurogenic bladder
37	HP:0002385	Paraparesis
38	HP:0003812	Phenotypic variability
39	HP:0006480	Premature loss of teeth
40	HP:0001250	Seizure
41	HP:0001592	Selective tooth agenesis
42	HP:0004220	Short middle phalanx of the 5th finger
43	HP:0012745	Short palpebral fissure
44	HP:0002217	Slow-growing hair
45	HP:0008070	Sparse hair
46	HP:0001257	Spasticity
47	HP:0000679	Taurodontia	HP:0040283
48	HP:0002273	Tetraparesis
49	HP:0004495	Thin anteverted nares
50	HP:0000430	Underdeveloped nasal alae
51	HP:0008442	Vertebral hyperostosis

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_000165.4(GJA1):c.31C>T (p.Leu11Phe)	2697	GJA1	Pathogenic	387906616	RCV000022517;	N	MedGen:C0812437,OMIM:164200,ORPHA:2710	6	121768024	121768024	NM_000165.4:c.31C>T	NP_000156.1:p.Leu11Phe	NC_000006.11:g.121768024C>T	OMIM Allelic Variant:121014.0020	C0812437 164200 Oculodentodigital dysplasia
NM_000165.4(GJA1):c.32T>C (p.Leu11Pro)	2697	GJA1	Pathogenic	121912969	RCV000018516;	N	MedGen:C0812437,OMIM:164200,ORPHA:2710	6	121768025	121768025	NM_000165.4:c.32T>C	NP_000156.1:p.Leu11Pro	NC_000006.11:g.121768025T>C	OMIM Allelic Variant:121014.0014	C0812437 164200 Oculodentodigital dysplasia
NM_000165.4(GJA1):c.50A>C (p.Tyr17Ser)	2697	GJA1	Pathogenic	104893961	RCV000018503;	N	MedGen:C0812437,OMIM:164200,ORPHA:2710	6	121768043	121768043	NM_000165.4:c.50A>C	NP_000156.1:p.Tyr17Ser	NC_000006.11:g.121768043A>C	OMIM Allelic Variant:121014.0003	C0812437 164200 Oculodentodigital dysplasia
NM_000165.4(GJA1):c.52T>C (p.Ser18Pro)	2697	GJA1	Pathogenic	104893962	RCV000018504;	N	MedGen:C0812437,OMIM:164200,ORPHA:2710	6	121768045	121768045	NM_000165.4:c.52T>C	NP_000156.1:p.Ser18Pro	NC_000006.11:g.121768045T>C	OMIM Allelic Variant:121014.0004	C0812437 164200 Oculodentodigital dysplasia
NM_000165.4(GJA1):c.61G>A (p.Gly21Arg)	2697	GJA1	Pathogenic	104893963	RCV000018505;	N	MedGen:C0812437,OMIM:164200,ORPHA:2710	6	121768054	121768054	NM_000165.4:c.61G>A	NP_000156.1:p.Gly21Arg	NC_000006.11:g.121768054G>A	OMIM Allelic Variant:121014.0005	C0812437 164200 Oculodentodigital dysplasia
NM_000165.4(GJA1):c.65G>A (p.Gly22Glu)	2697	GJA1	Pathogenic	104893964	RCV000018506;	N	MedGen:C0812437,OMIM:164200,ORPHA:2710	6	121768058	121768058	NM_000165.4:c.65G>A	NP_000156.1:p.Gly22Glu	NC_000006.11:g.121768058G>A	OMIM Allelic Variant:121014.0006	C0812437 164200 Oculodentodigital dysplasia
NM_000165.4(GJA1):c.226C>A (p.Arg76Ser)	2697	GJA1	Likely pathogenic;Pathogenic	267606845	RCV000018520;	N	MedGen:C0812437,OMIM:164200,ORPHA:2710	6	121768219	121768219	NM_000165.4:c.226C>A	NP_000156.1:p.Arg76Ser	NC_000006.11:g.121768219C>A	OMIM Allelic Variant:121014.0018	C0812437 164200 Oculodentodigital dysplasia
NM_000165.4(GJA1):c.286G>A (p.Val96Met)	2697	GJA1	Pathogenic	28931601	RCV000018509;	N	MedGen:C0812437,OMIM:164200,ORPHA:2710	6	121768279	121768279	NM_000165.4:c.286G>A	NP_000156.1:p.Val96Met	NC_000006.11:g.121768279G>A	OMIM Allelic Variant:121014.0009	C0812437 164200 Oculodentodigital dysplasia
NM_000165.4(GJA1):c.581A>C (p.His194Pro)	2697	GJA1	Pathogenic	104893966	RCV000018515;	N	MedGen:C0812437,OMIM:164200,ORPHA:2710	6	121768574	121768574	NM_000165.4:c.581A>C	NP_000156.1:p.His194Pro	NC_000006.11:g.121768574A>C	OMIM Allelic Variant:121014.0013	C0812437 164200 Oculodentodigital dysplasia
NM_000165.4(GJA1):c.617A>G (p.Lys206Arg)	2697	GJA1	Pathogenic	397518464	RCV000074385;	N	MedGen:C0812437,OMIM:164200,ORPHA:2710	6	121768610	121768610	NM_000165.4:c.617A>G	NP_000156.1:p.Lys206Arg	NC_000006.11:g.121768610A>G	OMIM Allelic Variant:121014.0022	C0812437 164200 Oculodentodigital dysplasia