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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

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Tooth Abnormalities (D014071)
..Starting node ..Dentinogenesis Imperfecta (D003811)
Child Nodes:
........Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta (C565734)
........Deafness, Autosomal Dominant 39, with Dentinogenesis Imperfecta 1 (C565316)
........Dentinogenesis imperfecta, shields type 3 (C538216)
........Opalescent dentin (C531665)
........Osteogenesis Imperfecta with Opalescent Teeth, Blue Sclerae and Wormian Bones, but Without Fractures (C563487)
........Osteogenesis imperfecta, type 1A (C536041)
........Spondylometaphyseal dysplasia with dentinogenesis imperfecta (C535792)
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:

3199

Name:

Dentinogenesis Imperfecta

Definition:

An autosomal dominant disorder of tooth development characterized by opalescent dentin resulting in discoloration of the teeth. The dentin develops poorly with low mineral content while the pulp canal is obliterated.

Alternative IDs:

OMIM:125490

ParentIDs:

MESH:D014071

TreeNumbers:

C07.650.800.270 |C07.793.700.270 |C16.131.850.800.270

Synonyms:

Slim Mappings:

Congenital abnormality|Mouth disease

Reference:

MedGen: D003811
MeSH: D003811
OMIM: 125490;

Genes: DSPP;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000703	Dentinogenesis imperfecta

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_014208.3(DSPP):c.44C>T (p.Ala15Val)	1834	DSPP	Pathogenic	121912989	RCV000018355;	N	MedGen:C0205730,OMIM:125490,SNOMED CT:234969005	4	88532104	88532104	NM_014208.3:c.44C>T	NP_055023.2:p.Ala15Val	NC_000004.11:g.88532104C>T	OMIM Allelic Variant:125485.0007	C0205730 125490 Dentinogenesis imperfecta - Shield's type II
NM_014208.3(DSPP):c.52G>T (p.Val18Phe)	1834	DSPP	Pathogenic	121912987	RCV000018351; RCV000018350; RCV000018352;	N	MedGen:C0205730,OMIM:125490,SNOMED CT:234969005; MedGen:C0399378,OMIM:125500,ORPHA:166265,SNOMED CT:234970006; MedGen:C4016014	4	88533257	88533257	NM_014208.3:c.52G>T	NP_055023.2:p.Val18Phe	NC_000004.11:g.88533257G>T	OMIM Allelic Variant:125485.0004	C4016014 Deafness, autosomal dominant nonsyndromic sensorineural 39, with dentinogenesis imperfecta 1; C0205730 125490 Dentinogenesis imperfecta - Shield's type II; C0399378 125500 Dentinogenesis imperfecta - Shield's type III
NM_014208.3(DSPP):c.133C>T (p.Gln45Ter)	1834	DSPP	Pathogenic	121912985	RCV000018347;	N	MedGen:C0205730,OMIM:125490,SNOMED CT:234969005	4	88533338	88533338	NM_014208.3:c.133C>T	NP_055023.2:p.Gln45Ter	NC_000004.11:g.88533338C>T	OMIM Allelic Variant:125485.0001	C0205730 125490 Dentinogenesis imperfecta - Shield's type II
NM_014208.3(DSPP):c.202A>T (p.Arg68Trp)	1834	DSPP	Pathogenic	36094464	RCV000018354;	N	MedGen:C0205730,OMIM:125490,SNOMED CT:234969005	4	88533540	88533540	NM_014208.3:c.202A>T	NP_055023.2:p.Arg68Trp	NC_000004.11:g.88533540A>T	OMIM Allelic Variant:125485.0006	C0205730 125490 Dentinogenesis imperfecta - Shield's type II