MCID: DFN021
MIFTS: 21

Deafness with Labyrinthine Aplasia Microtia and Microdontia malady

Categories: Rare diseases, Ear diseases, Fetal diseases

Aliases & Classifications for Deafness with Labyrinthine Aplasia Microtia and Microdontia

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Sources:
45NIH Rare Diseases, 51Orphanet, 24GTR, 65UMLS, 37MESH via Orphanet, 66UMLS via Orphanet
See all MalaCards sources

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

Name: Deafness with Labyrinthine Aplasia Microtia and Microdontia 45
Lamm Syndrome 45 51
Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia 65
Deafness Congenital with Inner Ear Agenesis Microtia and Microdontia 45
Congenital Deafness with Inner Ear Agenesis Microtia and Microdontia 45
 
Deafness with Labyrinthine Aplasia, Microtia, and Microdontia 51
Deafness with Labyrinthine Aplasia, Microtia and Microdontia 24
Microdontia-Type I Microtia-Deafness Syndrome 51
Deafness with Lamm 45

Characteristics:

Orphanet epidemiological data:

51
lamm syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

Classifications:



External Ids:

Orphanet51 90024
MESH via Orphanet37 C548011
UMLS via Orphanet66 C2932664
UMLS65 C1853144

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 lamm syndrome, is related to deafness, congenital with inner ear agenesis, microtia, and microdontia and cystic fibrosis, 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 microdontia12.5
2cystic fibrosis10.7

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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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
Pharmacologic Comparison of Clinical Neutral Endopeptidase Inhibitors in a Rat Model of Acute Secretory Diarrhea. (26907621)
2016
2
Relationship between pancreatic perfusion parameters and clinical complications of severe acute pancreatitis. (23254918)
2013

Variations for Deafness with Labyrinthine Aplasia Microtia and Microdontia

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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