MCID: DFN206
MIFTS: 26

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

Genetic diseases, Rare diseases, Ear diseases, Fetal diseases categories

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

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Sources:
45OMIM, 10diseasecard, 19GeneReviews, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 47Orphanet, 22GTR, 60UMLS, 34MESH via Orphanet, 61UMLS via Orphanet
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Deafness, Congenital with Inner Ear Agenesis, Microtia, and Microdontia, Aliases & Descriptions:

Name: Deafness, Congenital with Inner Ear Agenesis, Microtia, and Microdontia 45 10
Congenital Deafness with Labyrinthine Aplasia, Microtia, and Microdontia 19 20 21
Lamm Syndrome 41 21 47
Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia 45 60
Deafness with Labyrinthine Aplasia, Microtia, and Microdontia 47 22
Deafness with Lamm 41 21
Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia 21
 
Deafness Congenital with Inner Ear Agenesis Microtia and Microdontia 41
Congenital Deafness with Inner Ear Agenesis Microtia and Microdontia 41
Deafness with Labyrinthine Aplasia Microtia and Microdontia 41
Congenital Deafness with Inner Ear Agenesis 19
Microdontia - Type I Microtia - Deafness 47
Microtia,microdontia; Lamm Syndrome 19


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Ear diseases


Characteristics (Orphanet epidemiological data):

47
lamm syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal


External Ids:

OMIM45 610706
Orphanet47 90024
MESH via Orphanet34 C548011
UMLS via Orphanet61 C2932664

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

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Genetics Home Reference:21 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 cerebritis, and has symptoms including sensorineural hearing impairment, microdontia and abnormality of the cranial nerves. An important gene associated with Deafness, Congenital with Inner Ear Agenesis, Microtia, and Microdontia is FGF3 (fibroblast growth factor 3). Affiliated tissues include skin.

Description from OMIM:45 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
2cerebritis10.6
3cerebral folate deficiency10.6
4rickets10.1

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

Symptoms:

 47 (show all 24)
  • tooth shape anomaly
  • complete/partial microdontia
  • abnormal dentition/dental position/implantation/unerupted/dental ankylosis
  • microtia/cryptomicrotia/anotia/external auditory canal/pinnae aplasia/hypoplasia
  • structural anomalies of inner ear/cochlea/vestible/semicircular canals
  • sensorineural deafness/hearing loss
  • cranial nerve anomalies
  • autosomal recessive inheritance
  • long face
  • downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures
  • micrognathia/retrognathia/micrognathism/retrognathism
  • pointed chin
  • broad nasal root
  • small/triangular nares/nostrils
  • hypertelorism
  • hypermetropia
  • strabismus/squint
  • synophris/synophrys
  • long/large/bulbous nose
  • supernumerary teeth/polyodontia
  • anodontia/oligodontia/hypodontia
  • bifid/cleft ear lobe/ear lobe pits
  • preauricular/branchial tags/appendages
  • tall stature/gigantism/growth acceleration

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

(show all 30)
id Description Frequency HPO Source Accession
1 sensorineural hearing impairment hallmark (90%) HP:0000407
2 microdontia hallmark (90%) HP:0000691
3 abnormality of the cranial nerves hallmark (90%) HP:0001291
4 long face typical (50%) HP:0000276
5 pointed chin typical (50%) HP:0000307
6 micrognathia typical (50%) HP:0000347
7 wide nasal bridge typical (50%) HP:0000431
8 downslanted palpebral fissures typical (50%) HP:0000494
9 abnormality of the nares typical (50%) HP:0005288
10 tall stature occasional (7.5%) HP:0000098
11 hypertelorism occasional (7.5%) HP:0000316
12 preauricular skin tag occasional (7.5%) HP:0000384
13 strabismus occasional (7.5%) HP:0000486
14 hypermetropia occasional (7.5%) HP:0000540
15 synophrys occasional (7.5%) HP:0000664
16 abnormal nasal morphology occasional (7.5%) HP:0005105
17 reduced number of teeth occasional (7.5%) HP:0009804
18 anterior creases of earlobe occasional (7.5%) HP:0009908
19 increased number of teeth occasional (7.5%) HP:0011069
20 autosomal recessive inheritance HP:0000007
21 long face HP:0000276
22 micrognathia HP:0000347
23 widely spaced teeth HP:0000687
24 microdontia HP:0000691
25 conical tooth HP:0000698
26 delayed gross motor development HP:0002194
27 skin tags HP:0010609
28 microtia, first degree HP:0011266
29 aplasia of the inner ear HP:0011372
30 profound sensorineural hearing impairment HP:0011476

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

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Drug clinical trials:

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

Search 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 Microdontia20 FGF3
2 Deafness with Labyrinthine Aplasia Microtia and Microdontia (lamm)22

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:

31
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:

62
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:

6 (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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Compounds 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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Products for genes affiliated with Deafness, Congenital with Inner Ear Agenesis, Microtia, and...

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  • Antibodies
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  • Kits and Assays

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

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet