MCID: DFN021
MIFTS: 12

Deafness with Labyrinthine Aplasia Microtia and Microdontia

Categories: Rare diseases, Ear diseases

Aliases & Classifications for Deafness with Labyrinthine Aplasia Microtia and Microdontia

MalaCards integrated aliases for Deafness with Labyrinthine Aplasia Microtia and Microdontia:

Name: Deafness with Labyrinthine Aplasia Microtia and Microdontia 49 28
Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia 69
Congenital Deafness with Inner Ear Agenesis Microtia and Microdontia 49
Deafness Congenital with Inner Ear Agenesis Microtia and Microdontia 49
Deafness with Lamm 49
Lamm Syndrome 49

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Ear diseases


External Ids:

UMLS 69 C1853144

Summaries for Deafness with Labyrinthine Aplasia Microtia and Microdontia

MalaCards based summary : Deafness with Labyrinthine Aplasia Microtia and Microdontia, also known as deafness, congenital, with inner ear agenesis, microtia, and microdontia, is related to deafness, congenital, with inner ear agenesis, microtia, and microdontia and branchiootic syndrome 1. 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

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

# Related Disease Score Top Affiliating Genes
1 deafness, congenital, with inner ear agenesis, microtia, and microdontia 12.3
2 branchiootic syndrome 1 10.4
3 microtia 10.4
4 cerebellofaciodental syndrome 10.3
5 cerebritis 10.3
6 cerebral folate deficiency 10.3

Graphical network of the top 20 diseases related to Deafness with Labyrinthine Aplasia Microtia and Microdontia:



Diseases related to Deafness with Labyrinthine Aplasia Microtia and Microdontia

Symptoms & Phenotypes for Deafness with Labyrinthine Aplasia Microtia and Microdontia

Drugs & Therapeutics for Deafness with Labyrinthine Aplasia Microtia and Microdontia

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

Genetic Tests for Deafness with Labyrinthine Aplasia Microtia and Microdontia

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

# Genetic test Affiliating Genes
1 Deafness with Labyrinthine Aplasia Microtia and Microdontia (lamm) 28 FGF3

Anatomical Context for Deafness with Labyrinthine Aplasia Microtia and Microdontia

Publications for Deafness with Labyrinthine Aplasia Microtia and Microdontia

Articles related to Deafness with Labyrinthine Aplasia Microtia and Microdontia:

# Title Authors Year
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

ClinVar genetic disease variations for Deafness with Labyrinthine Aplasia Microtia and Microdontia:

6 (show all 13)
# Gene Variation Type Significance SNP ID Assembly Location
1 FGF3 NM_005247.2(FGF3): c.466T> C (p.Ser156Pro) single nucleotide variant Pathogenic rs121917703 GRCh37 Chromosome 11, 69625327: 69625327
2 FGF3 NM_005247.2(FGF3): c.310C> T (p.Arg104Ter) single nucleotide variant Pathogenic rs121917704 GRCh37 Chromosome 11, 69631102: 69631102
3 FGF3 NM_005247.2(FGF3): c.616delG (p.Val206Serfs) deletion Pathogenic rs281860305 GRCh37 Chromosome 11, 69625177: 69625177
4 FGF3 NM_005247.2(FGF3): c.196G> T (p.Gly66Cys) single nucleotide variant Pathogenic rs121917705 GRCh37 Chromosome 11, 69633506: 69633506
5 FGF3 NM_005247.2(FGF3): c.17T> C (p.Leu6Pro) single nucleotide variant Pathogenic rs121917706 GRCh37 Chromosome 11, 69633685: 69633685
6 FGF3 NM_005247.2(FGF3): c.255delT (p.Ile85Metfs) deletion Pathogenic rs281860302 GRCh37 Chromosome 11, 69631157: 69631157
7 FGF3 NM_005247.2(FGF3): c.146A> G (p.Tyr49Cys) single nucleotide variant Pathogenic rs281860300 GRCh37 Chromosome 11, 69633556: 69633556
8 FGF3 NM_005247.2(FGF3): c.317A> G (p.Tyr106Cys) single nucleotide variant Pathogenic rs281860306 GRCh37 Chromosome 11, 69631095: 69631095
9 FGF3 NM_005247.2(FGF3): c.457_458delTG (p.Trp153Valfs) deletion Pathogenic rs281860307 GRCh37 Chromosome 11, 69625335: 69625336
10 FGF3 NM_005247.2(FGF3): c.150C> A (p.Cys50Ter) single nucleotide variant Pathogenic rs281860301 GRCh37 Chromosome 11, 69633552: 69633552
11 FGF3 NM_005247.2(FGF3): c.283C> T (p.Arg95Trp) single nucleotide variant Pathogenic rs281860303 GRCh37 Chromosome 11, 69631129: 69631129
12 FGF3 NM_005247.2(FGF3): c.394delC (p.Arg132Glyfs) deletion Pathogenic rs281860304 GRCh37 Chromosome 11, 69625399: 69625399
13 FGF3 NM_005247.2(FGF3): c.270dupT (p.Leu91Serfs) duplication Pathogenic GRCh37 Chromosome 11, 69631142: 69631142

Expression for Deafness with Labyrinthine Aplasia Microtia and Microdontia

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

Pathways for Deafness with Labyrinthine Aplasia Microtia and Microdontia

GO Terms for Deafness with Labyrinthine Aplasia Microtia and Microdontia

Sources for Deafness with Labyrinthine Aplasia Microtia and Microdontia

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10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
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29 HGMD
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33 ICD10 via Orphanet
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58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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