MCID: DFN021
MIFTS: 21

Deafness with Labyrinthine Aplasia Microtia and Microdontia malady

Rare diseases, Ear diseases, Fetal diseases categories

Aliases & Classifications for Deafness with Labyrinthine Aplasia Microtia and Microdontia

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Sources:
45NIH Rare Diseases, 51Orphanet, 24GTR, 37MESH via Orphanet, 66UMLS via Orphanet
See all sources

Aliases & Descriptions for Deafness with Labyrinthine Aplasia Microtia and Microdontia:

Name: Deafness with Labyrinthine Aplasia Microtia and Microdontia 45
Deafness with Labyrinthine Aplasia, Microtia, and Microdontia 51 24
Lamm Syndrome 45 51
Congenital Deafness with Inner Ear Agenesis Microtia and Microdontia 45
 
Deafness Congenital with Inner Ear Agenesis Microtia and Microdontia 45
Microdontia - Type I Microtia - Deafness 51
Deafness with Lamm 45


Classifications:



Characteristics (Orphanet epidemiological data):

51
deafness with labyrinthine aplasia, microtia, and microdontia:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal


External Ids:

Orphanet51 90024
MESH via Orphanet37 C548011
UMLS via Orphanet66 C2932664

Summaries for Deafness with Labyrinthine Aplasia Microtia and Microdontia

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MalaCards based summary: Deafness with Labyrinthine Aplasia Microtia and Microdontia, also known as deafness with labyrinthine aplasia, microtia, and microdontia, is related to deafness, congenital with inner ear agenesis, microtia, and microdontia and microtia, and has symptoms including tooth shape anomaly, complete/partial microdontia and abnormal dentition/dental position/implantation/unerupted/dental ankylosis. An important gene associated with Deafness with Labyrinthine Aplasia Microtia and Microdontia is FGF3 (Fibroblast Growth Factor 3).

Related Diseases for Deafness with Labyrinthine Aplasia Microtia and Microdontia

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Diseases related to Deafness with Labyrinthine Aplasia Microtia and Microdontia via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1deafness, congenital with inner ear agenesis, microtia, and microdontia11.1
2microtia10.7
3cerebritis10.6
4cerebral folate deficiency10.6
5pyridoxal phosphate-responsive seizures10.6
6rickets10.2

Graphical network of diseases related to Deafness with Labyrinthine Aplasia Microtia and Microdontia:



Diseases related to deafness with labyrinthine aplasia microtia and microdontia

Symptoms for Deafness with Labyrinthine Aplasia Microtia and Microdontia

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Symptoms:

 51 (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

Drugs & Therapeutics for Deafness with Labyrinthine Aplasia Microtia and Microdontia

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Deafness with Labyrinthine Aplasia Microtia and Microdontia

Genetic Tests for Deafness with Labyrinthine Aplasia Microtia and Microdontia

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Genetic tests related to Deafness with Labyrinthine Aplasia Microtia and Microdontia:

id Genetic test Affiliating Genes
1 Deafness with Labyrinthine Aplasia Microtia and Microdontia (lamm)24

Anatomical Context for Deafness with Labyrinthine Aplasia Microtia and Microdontia

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Animal Models for Deafness with Labyrinthine Aplasia Microtia and Microdontia or affiliated genes

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Publications for Deafness with Labyrinthine Aplasia Microtia and Microdontia

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Articles related to Deafness with Labyrinthine Aplasia Microtia and Microdontia:

idTitleAuthorsYear
1
Pyridoxal phosphate-responsive seizures in a patient with cerebral folate deficiency (CFD) and congenital deafness with labyrinthine aplasia, microtia and microdontia (LAMM). (21752681)
2011
2
Congenital Deafness with Labyrinthine Aplasia, Microtia, and Microdontia (22993869)
1993

Variations for Deafness with Labyrinthine Aplasia Microtia and Microdontia

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Clinvar genetic disease variations for Deafness with Labyrinthine Aplasia 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 with Labyrinthine Aplasia Microtia and Microdontia

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Search GEO for disease gene expression data for Deafness with Labyrinthine Aplasia Microtia and Microdontia.

Pathways for genes affiliated with Deafness with Labyrinthine Aplasia Microtia and Microdontia

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GO Terms for genes affiliated with Deafness with Labyrinthine Aplasia Microtia and Microdontia

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Sources for Deafness with Labyrinthine Aplasia Microtia and Microdontia

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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