MCID: DFN021
MIFTS: 15

Deafness with Labyrinthine Aplasia Microtia and Microdontia malady

Genetic diseases, Rare diseases, Ear diseases, Fetal diseases categories
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Summaries for Deafness with Labyrinthine Aplasia Microtia and Microdontia

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33MalaCards
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MalaCards: Deafness with Labyrinthine Aplasia Microtia and Microdontia, also known as congenital deafness with inner ear agenesis microtia and microdontia, is related to congenital deafness with labyrinthine aplasia, microtia, and microdontia and microtia.

Aliases & Classifications for Deafness with Labyrinthine Aplasia Microtia and Microdontia

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43NIH Rare Diseases, 22GTR, 62UMLS
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Classifications:

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


Aliases & Descriptions:

deafness with labyrinthine aplasia microtia and microdontia 43 22
congenital deafness with inner ear agenesis microtia and microdontia 43
deafness congenital with inner ear agenesis microtia and microdontia 43
complete hearing loss 62
deafness with lamm 43
lamm syndrome 43


Related Diseases for Deafness with Labyrinthine Aplasia Microtia and Microdontia

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17GeneCards, 18GeneDecks
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Diseases in the Congenital Deafness with Labyrinthine Aplasia, Microtia, and Microdontia family:

deafness with labyrinthine aplasia microtia and microdontia

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

idRelated DiseaseScoreTop Affiliating Genes
1congenital deafness with labyrinthine aplasia, microtia, and microdontia11.1
2microtia10.7
3cerebritis10.6
4cerebral folate deficiency10.6

Symptoms for Deafness with Labyrinthine Aplasia Microtia and Microdontia

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Drugs & Therapeutics for Deafness with Labyrinthine Aplasia Microtia and Microdontia

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Deafness with Labyrinthine Aplasia Microtia and Microdontia

Search 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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22GTR
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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)22

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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52PubMed
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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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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Deafness with Labyrinthine Aplasia Microtia and Microdontia:

1 (show all 12)
id Gene Name 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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15Gene Expression Omnibus DataSets
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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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Compounds 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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Products for genes affiliated with Deafness with Labyrinthine Aplasia Microtia and Microdontia

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Deafness with Labyrinthine Aplasia Microtia and Microdontia

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet