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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: Congenital Microtia (D065817)
Parent Node: Hearing Loss, Sensorineural (D006319)
Parent Node: Tooth Abnormalities (D014071)
..Starting node ..Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia (C565195)
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:

3106

Name:

Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia

Definition:

Alternative IDs:

OMIM:610706

ParentIDs:

MESH:D006319|MESH:D014071|MESH:D065817

TreeNumbers:

C07.650.800/C565195 |C07.793.700/C565195 |C09.218.235/C565195 |C09.218.458.341.887/C565195 |C10.597.751.418.341.887/C565195 |C16.131.287/C565195 |C16.131.850.800/C565195 |C23.888.592.763.393.341.887/C565195

Synonyms:

Deafness, Congenital, with Labyrinthine Aplasia, Microtia, and Microdontia |DEAFNESS WITH LAMM

Slim Mappings:

Congenital abnormality|Ear-nose-throat disease|Mouth disease|Nervous system disease|Signs and symptoms

Reference:

MedGen: C565195
MeSH: C565195
OMIM: 610706;

Genes: FGF3;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0040080	Anteverted ears
3	HP:0011372	Aplasia of the inner ear
4	HP:0000698	Conical tooth
5	HP:0002194	Delayed gross motor development
6	HP:0000276	Long face
7	HP:0000691	Microdontia
8	HP:0000347	Micrognathia
9	HP:0011266	Microtia, first degree
10	HP:0011476	Profound sensorineural hearing impairment
11	HP:0010609	Skin tags
12	HP:0000687	Widely spaced teeth

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_005247.2(FGF3):c.616delG (p.Val206Serfs)	2248	FGF3	Pathogenic	281860305	RCV000014851;	N	MedGen:C1853144,OMIM:610706	11	69625177	69625177	NM_005247.2:c.616delG	NP_005238.1:p.Val206Serfs	NC_000011.9:g.69625177delC	OMIM Allelic Variant:164950.0003	C1853144 610706 Deafness with labyrinthine aplasia microtia and microdontia (LAMM)
NM_005247.2(FGF3):c.466T>C (p.Ser156Pro)	2248	FGF3	Pathogenic	121917703	RCV000014849;	N	MedGen:C1853144,OMIM:610706	11	69625327	69625327	NM_005247.2:c.466T>C	NP_005238.1:p.Ser156Pro	NC_000011.9:g.69625327A>G	OMIM Allelic Variant:164950.0001	C1853144 610706 Deafness with labyrinthine aplasia microtia and microdontia (LAMM)
NM_005247.2(FGF3):c.457_458delTG (p.Trp153Valfs)	2248	FGF3	Pathogenic	281860307	RCV000022694;	N	MedGen:C1853144,OMIM:610706	11	69625335	69625336	NM_005247.2:c.457_458delTG	NP_005238.1:p.Trp153Valfs	NC_000011.9:g.69625335_69625336delCA	OMIM Allelic Variant:164950.0009	C1853144 610706 Deafness with labyrinthine aplasia microtia and microdontia (LAMM)
NM_005247.2(FGF3):c.394delC (p.Arg132Glyfs)	2248	FGF3	Pathogenic	281860304	RCV000031940;	N	MedGen:C1853144,OMIM:610706	11	69625399	69625399	NM_005247.2:c.394delC	NP_005238.1:p.Arg132Glyfs	NC_000011.9:g.69625399delG	-	C1853144 610706 Deafness with labyrinthine aplasia microtia and microdontia (LAMM)
NM_005247.2(FGF3):c.317A>G (p.Tyr106Cys)	2248	FGF3	Pathogenic	281860306	RCV000022693;	N	MedGen:C1853144,OMIM:610706	11	69631095	69631095	NM_005247.2:c.317A>G	NP_005238.1:p.Tyr106Cys	NC_000011.9:g.69631095T>C	OMIM Allelic Variant:164950.0008	C1853144 610706 Deafness with labyrinthine aplasia microtia and microdontia (LAMM)
NM_005247.2(FGF3):c.310C>T (p.Arg104Ter)	2248	FGF3	Pathogenic	121917704	RCV000014850;	N	MedGen:C1853144,OMIM:610706	11	69631102	69631102	NM_005247.2:c.310C>T	NP_005238.1:p.Arg104Ter	NC_000011.9:g.69631102G>A	OMIM Allelic Variant:164950.0002	C1853144 610706 Deafness with labyrinthine aplasia microtia and microdontia (LAMM)
NM_005247.2(FGF3):c.283C>T (p.Arg95Trp)	2248	FGF3	Pathogenic	281860303	RCV000031939;	N	MedGen:C1853144,OMIM:610706	11	69631129	69631129	NM_005247.2:c.283C>T	NP_005238.1:p.Arg95Trp	NC_000011.9:g.69631129G>A	-	C1853144 610706 Deafness with labyrinthine aplasia microtia and microdontia (LAMM)
NM_005247.2(FGF3):c.255delT (p.Ile85Metfs)	2248	FGF3	Pathogenic	281860302	RCV000014854;	N	MedGen:C1853144,OMIM:610706	11	69631157	69631157	NM_005247.2:c.255delT	NP_005238.1:p.Ile85Metfs	NC_000011.9:g.69631157delA	OMIM Allelic Variant:164950.0006	C1853144 610706 Deafness with labyrinthine aplasia microtia and microdontia (LAMM)
NM_005247.2(FGF3):c.196G>T (p.Gly66Cys)	2248	FGF3	Pathogenic	121917705	RCV000014852;	N	MedGen:C1853144,OMIM:610706	11	69633506	69633506	NM_005247.2:c.196G>T	NP_005238.1:p.Gly66Cys	NC_000011.9:g.69633506C>A	OMIM Allelic Variant:164950.0004	C1853144 610706 Deafness with labyrinthine aplasia microtia and microdontia (LAMM)
NM_005247.2(FGF3):c.150C>A (p.Cys50Ter)	2248	FGF3	Pathogenic	281860301	RCV000031938;	N	MedGen:C1853144,OMIM:610706	11	69633552	69633552	NM_005247.2:c.150C>A	NP_005238.1:p.Cys50Ter	NC_000011.9:g.69633552G>T	-	C1853144 610706 Deafness with labyrinthine aplasia microtia and microdontia (LAMM)
NM_005247.2(FGF3):c.146A>G (p.Tyr49Cys)	2248	FGF3	Pathogenic	281860300	RCV000022692;	N	MedGen:C1853144,OMIM:610706	11	69633556	69633556	NM_005247.2:c.146A>G	NP_005238.1:p.Tyr49Cys	NC_000011.9:g.69633556T>C	OMIM Allelic Variant:164950.0007	C1853144 610706 Deafness with labyrinthine aplasia microtia and microdontia (LAMM)
NM_005247.2(FGF3):c.17T>C (p.Leu6Pro)	2248	FGF3	Pathogenic	121917706	RCV000014853;	N	MedGen:C1853144,OMIM:610706	11	69633685	69633685	NM_005247.2:c.17T>C	NP_005238.1:p.Leu6Pro	NC_000011.9:g.69633685A>G	OMIM Allelic Variant:164950.0005	C1853144 610706 Deafness with labyrinthine aplasia microtia and microdontia (LAMM)