MCID: DFN206
MIFTS: 25

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

Genetic diseases (common), Ear diseases categories

Aliases & Classifications for Deafness, Congenital with Inner Ear Agenesis, Microtia, and...

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Aliases & Descriptions for Deafness, Congenital with Inner Ear Agenesis, Microtia, and Microdontia:

Name: Deafness, Congenital with Inner Ear Agenesis, Microtia, and Microdontia 49 11
Congenital Deafness with Labyrinthine Aplasia, Microtia, and Microdontia 21 22 23
Lamm Syndrome 22 23
Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia 65
Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia 23
Congenital Deafness with Inner Ear Agenesis, Microtia and Microdontia 67
 
Deafness Congenital with Inner Ear Agenesis Microtia and Microdontia 22
Deafness with Labyrinthine Aplasia, Microtia and Microdontia 67
Congenital Deafness with Inner Ear Agenesis 21
Microtia,microdontia; Lamm Syndrome 21
Deafness with Lamm 23
Lamm 67


Classifications:



External Ids:

OMIM49 610706
MedGen34 C1853144

Summaries for Deafness, Congenital with Inner Ear Agenesis, Microtia, and...

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Genetics Home Reference:23 Congenital deafness with labyrinthine aplasia, microtia, and microdontia (also called LAMM syndrome) is a condition that affects development of the ears and teeth. In people with this condition, the structures that form the inner ear are usually completely absent (labyrinthine aplasia). Rarely, affected individuals have some underdeveloped inner ear structures in one or both ears. The abnormalities of the inner ear cause a form of hearing loss called sensorineural deafness that is present from birth (congenital). Because the inner ear is important for balance as well as hearing, development of motor skills, such as sitting and crawling, may be delayed in affected infants. In addition, people with LAMM syndrome often have abnormally small outer ears (microtia) with narrow ear canals. They can also have unusually small, widely spaced teeth (microdontia).

MalaCards based summary: Deafness, Congenital with Inner Ear Agenesis, Microtia, and Microdontia, also known as congenital deafness with labyrinthine aplasia, microtia, and microdontia, is related to microtia and deafness with labyrinthine aplasia microtia and microdontia, and has symptoms including microdontia, abnormality of the cranial nerves and long face. An important gene associated with Deafness, Congenital with Inner Ear Agenesis, Microtia, and Microdontia is FGF3 (Fibroblast Growth Factor 3). Affiliated tissues include skin.

UniProtKB/Swiss-Prot:67 Deafness with labyrinthine aplasia, microtia and microdontia: Unique autosomal recessive syndrome characterized by type I microtia, microdontia, and profound congenital deafness associated with a complete absence of inner ear structures (Michel aplasia).

Description from OMIM:49 610706

GeneReviews summary for df-lamm

Related Diseases for Deafness, Congenital with Inner Ear Agenesis, Microtia, and...

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Diseases related to Deafness, Congenital with Inner Ear Agenesis, Microtia, and Microdontia via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1microtia10.8
2deafness with labyrinthine aplasia microtia and microdontia10.6
3cerebritis10.6
4cerebral folate deficiency10.6
5pyridoxal phosphate-responsive seizures10.6
6rickets10.2

Graphical network of diseases related to Deafness, Congenital with Inner Ear Agenesis, Microtia, and Microdontia:



Diseases related to deafness, congenital with inner ear agenesis, microtia, and microdontia

Symptoms for Deafness, Congenital with Inner Ear Agenesis, Microtia, and...

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Symptoms by clinical synopsis from OMIM:

610706

Clinical features from OMIM:

610706

HPO human phenotypes related to Deafness, Congenital with Inner Ear Agenesis, Microtia, and Microdontia:

(show all 30)
id Description Frequency HPO Source Accession
1 microdontia hallmark (90%) HP:0000691
2 abnormality of the cranial nerves hallmark (90%) HP:0001291
3 long face typical (50%) HP:0000276
4 pointed chin typical (50%) HP:0000307
5 micrognathia typical (50%) HP:0000347
6 wide nasal bridge typical (50%) HP:0000431
7 downslanted palpebral fissures typical (50%) HP:0000494
8 abnormality of the nares typical (50%) HP:0005288
9 tall stature occasional (7.5%) HP:0000098
10 hypertelorism occasional (7.5%) HP:0000316
11 preauricular skin tag occasional (7.5%) HP:0000384
12 strabismus occasional (7.5%) HP:0000486
13 hypermetropia occasional (7.5%) HP:0000540
14 synophrys occasional (7.5%) HP:0000664
15 abnormal nasal morphology occasional (7.5%) HP:0005105
16 reduced number of teeth occasional (7.5%) HP:0009804
17 anterior creases of earlobe occasional (7.5%) HP:0009908
18 increased number of teeth occasional (7.5%) HP:0011069
19 autosomal recessive inheritance HP:0000007
20 long face HP:0000276
21 micrognathia HP:0000347
22 widely spaced teeth HP:0000687
23 microdontia HP:0000691
24 conical tooth HP:0000698
25 delayed gross motor development HP:0002194
26 skin tags HP:0010609
27 microtia, first degree HP:0011266
28 aplasia of the inner ear HP:0011372
29 profound sensorineural hearing impairment HP:0011476
30 anteverted ears HP:0040080

Drugs & Therapeutics for Deafness, Congenital with Inner Ear Agenesis, Microtia, and...

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Deafness, Congenital with Inner Ear Agenesis, Microtia, and Microdontia

Genetic Tests for Deafness, Congenital with Inner Ear Agenesis, Microtia, and...

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Genetic tests related to Deafness, Congenital with Inner Ear Agenesis, Microtia, and Microdontia:

id Genetic test Affiliating Genes
1 Congenital Deafness with Labyrinthine Aplasia, Microtia, and Microdontia22 FGF3

Anatomical Context for Deafness, Congenital with Inner Ear Agenesis, Microtia, and...

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MalaCards organs/tissues related to Deafness, Congenital with Inner Ear Agenesis, Microtia, and Microdontia:

33
Skin

Animal Models for Deafness, Congenital with Inner Ear Agenesis, Microtia, and... or affiliated genes

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Publications for Deafness, Congenital with Inner Ear Agenesis, Microtia, and...

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Variations for Deafness, Congenital with Inner Ear Agenesis, Microtia, and...

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UniProtKB/Swiss-Prot genetic disease variations for Deafness, Congenital with Inner Ear Agenesis, Microtia, and Microdontia:

67
id Symbol AA change Variation ID SNP ID
1FGF3p.Ser156ProVAR_031848
2FGF3p.Leu6ProVAR_060492

Clinvar genetic disease variations for Deafness, Congenital with Inner Ear Agenesis, Microtia, and Microdontia:

5 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1FGF3NM_005247.2(FGF3): c.466T> C (p.Ser156Pro)single nucleotide variantPathogenicrs121917703GRCh37Chr 11, 69625327: 69625327
2FGF3NM_005247.2(FGF3): c.310C> T (p.Arg104Ter)single nucleotide variantPathogenicrs121917704GRCh37Chr 11, 69631102: 69631102
3FGF3NM_005247.2(FGF3): c.616delG (p.Val206Serfs)deletionPathogenicrs281860305GRCh37Chr 11, 69625177: 69625177
4FGF3NM_005247.2(FGF3): c.196G> T (p.Gly66Cys)single nucleotide variantPathogenicrs121917705GRCh37Chr 11, 69633506: 69633506
5FGF3NM_005247.2(FGF3): c.17T> C (p.Leu6Pro)single nucleotide variantPathogenicrs121917706GRCh37Chr 11, 69633685: 69633685
6FGF3NM_005247.2(FGF3): c.255delT (p.Ile85Metfs)deletionPathogenicrs281860302GRCh37Chr 11, 69631157: 69631157
7FGF3NM_005247.2(FGF3): c.146A> G (p.Tyr49Cys)single nucleotide variantPathogenicrs281860300GRCh37Chr 11, 69633556: 69633556
8FGF3NM_005247.2(FGF3): c.317A> G (p.Tyr106Cys)single nucleotide variantPathogenicrs281860306GRCh37Chr 11, 69631095: 69631095
9FGF3NM_005247.2(FGF3): c.457_458delTG (p.Trp153Valfs)deletionPathogenicrs281860307GRCh37Chr 11, 69625335: 69625336
10FGF3NM_005247.2(FGF3): c.150C> A (p.Cys50Ter)single nucleotide variantPathogenicrs281860301GRCh37Chr 11, 69633552: 69633552
11FGF3NM_005247.2(FGF3): c.283C> T (p.Arg95Trp)single nucleotide variantPathogenicrs281860303GRCh37Chr 11, 69631129: 69631129
12FGF3NM_005247.2(FGF3): c.394delC (p.Arg132Glyfs)deletionPathogenicrs281860304GRCh37Chr 11, 69625399: 69625399

Expression for genes affiliated with Deafness, Congenital with Inner Ear Agenesis, Microtia, and...

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Search GEO for disease gene expression data for Deafness, Congenital with Inner Ear Agenesis, Microtia, and Microdontia.

Pathways for genes affiliated with Deafness, Congenital with Inner Ear Agenesis, Microtia, and...

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GO Terms for genes affiliated with Deafness, Congenital with Inner Ear Agenesis, Microtia, and...

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Sources for Deafness, Congenital with Inner Ear Agenesis, Microtia, and...

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet