LAMM
MCID: DFN358
MIFTS: 36

Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia (LAMM)

Categories: Ear diseases, Fetal diseases, Genetic diseases, Rare diseases
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Aliases & Classifications for Deafness, Congenital, with Inner Ear Agenesis, Microtia, and...

MalaCards integrated aliases for Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia:

Name: Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia 57 71
Lamm Syndrome 24 19 42 58
Deafness with Labyrinthine Aplasia, Microtia, and Microdontia 58 28 5
Deafness with Lamm 57 19 42
Congenital Deafness with Labyrinthine Aplasia, Microtia, and Microdontia 24 42
Deafness, Congenital with Inner Ear Agenesis, Microtia, and Microdontia 57 12
Deafness, Congenital, with Labyrinthine Aplasia, Microtia, and Microdontia 57
Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia 42
Congenital Deafness with Inner Ear Agenesis, Microtia and Microdontia 73
Congenital Deafness with Inner Ear Agenesis Microtia and Microdontia 19
Deafness Congenital with Inner Ear Agenesis Microtia and Microdontia 19
Deafness, Congenital, Inner Ear Agenesis, Microtia, and Microdontia 38
Congenital Deafness with Inner Ear Agenesis, Microtia, Microdontia 24
Hearing Loss with Labyrinthine Aplasia, Microtia, and Microdontia 58
Deafness with Labyrinthine Aplasia, Microtia and Microdontia 73
Deafness with Labyrinthine Aplasia Microtia and Microdontia 19
Microdontia-Type I Microtia-Hearing Loss Syndrome 58
Microdontia-Type I Microtia-Deafness Syndrome 58
Lamm 73

Characteristics:


Inheritance:

Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia: Autosomal recessive 57
Deafness with Labyrinthine Aplasia, Microtia, and Microdontia: Autosomal recessive 58

Prevelance:

Deafness with Labyrinthine Aplasia, Microtia, and Microdontia: <1/1000000 (Worldwide) 58

Age Of Onset:

Deafness with Labyrinthine Aplasia, Microtia, and Microdontia: Infancy,Neonatal 58

Classifications:

Orphanet: 58  
Rare otorhinolaryngological diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 610706
MESH via Orphanet 44 C548011
ICD10 via Orphanet 32 Q16.5
UMLS via Orphanet 72 C1853144 C2932664
Orphanet 58 ORPHA90024
MedGen 40 C1853144
UMLS 71 C1853144

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

MedlinePlus Genetics: 42 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 lamm syndrome, is related to microtia and skin tag. An important gene associated with Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia is FGF3 (Fibroblast Growth Factor 3). Affiliated tissues include eye, skin and prostate, and related phenotypes are widely spaced teeth and microtia

UniProtKB/Swiss-Prot: 73 Unique autosomal recessive syndrome characterized by type I microtia, microdontia, and profound congenital deafness associated with a complete absence of inner ear structures (Michel aplasia).

GARD: 19 Deafness with labyrinthine aplasia, microtia, and microdontia (LAMM) is a genetic transmission deafness syndrome.

Orphanet: 58 Deafness with labyrinthine aplasia, microtia, and microdontia (LAMM) is a genetic transmission deafness syndrome.

More information from OMIM: 610706
GeneReviews: NBK100664

Related Diseases for Deafness, Congenital, with Inner Ear Agenesis, Microtia, and...

Diseases related to Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 14)
# Related Disease Score Top Affiliating Genes
1 microtia 10.6
2 skin tag 10.5
3 strabismus 10.5
4 pyridoxamine 5-prime-phosphate oxidase deficiency 10.5
5 neurodegeneration due to cerebral folate transport deficiency 10.5
6 sensorineural hearing loss 10.5
7 visual epilepsy 10.5
8 hypotonia 10.5
9 bladder cancer 10.2
10 otodental dysplasia 10.0
11 otitis media 10.0
12 hypophosphatemic rickets, x-linked recessive 10.0
13 rickets 10.0
14 hypokalemia 9.9

Graphical network of the top 20 diseases related to Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia:



Diseases related to Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia

Symptoms & Phenotypes for Deafness, Congenital, with Inner Ear Agenesis, Microtia, and...

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

58 30 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 widely spaced teeth 58 30 Very rare (1%) Very frequent (99-80%)
HP:0000687
2 microtia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008551
3 sensorineural hearing impairment 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000407
4 microdontia 58 30 Very rare (1%) Very frequent (99-80%)
HP:0000691
5 abnormal cranial nerve morphology 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001291
6 conical tooth 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000698
7 aplasia of the inner ear 58 30 Very rare (1%) Very frequent (99-80%)
HP:0011372
8 wide nasal bridge 58 30 Frequent (33%) Frequent (79-30%)
HP:0000431
9 micrognathia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000347
10 downslanted palpebral fissures 58 30 Frequent (33%) Frequent (79-30%)
HP:0000494
11 long face 58 30 Frequent (33%) Frequent (79-30%)
HP:0000276
12 pointed chin 58 30 Frequent (33%) Frequent (79-30%)
HP:0000307
13 underdeveloped nasal alae 58 30 Frequent (33%) Frequent (79-30%)
HP:0000430
14 hypertelorism 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000316
15 strabismus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000486
16 hypodontia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000668
17 high hypermetropia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0008499
18 tall stature 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000098
19 synophrys 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000664
20 prominent nose 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000448
21 skin tags 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0010609
22 supernumerary tooth 30 Occasional (7.5%) HP:0011069
23 delayed gross motor development 30 Very rare (1%) HP:0002194
24 anteverted ears 30 Very rare (1%) HP:0040080
25 profound sensorineural hearing impairment 30 Very rare (1%) HP:0011476
26 microtia, first degree 30 Very rare (1%) HP:0011266
27 hearing impairment 58 Very frequent (99-80%)
28 increased number of teeth 58 Occasional (29-5%)
29 peg-shaped maxillary lateral incisors 30 HP:0006342

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Head And Neck Teeth:
widely spaced teeth
microdontia
conical teeth

Head And Neck Ears:
anteverted ears
microtia, type i
deafness, profound congenital sensorineural
michel aplasia (complete absence of inner ear structures)
labyrinthine aplasia

Neurologic Central Nervous System:
gross motor skill delay (infancy)
stenosis of the jugular foramen
pontocerebellar arachnoid cyst (reported in 2 patients)

Head And Neck Face:
micrognathia
long face

Skin Nails Hair Skin:
skin tags on the upper part of the auricle

Clinical features from OMIM®:

610706 (Updated 24-Oct-2022)

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

Search Clinical Trials, NIH Clinical Center for Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia

Genetic Tests for Deafness, Congenital, with Inner Ear Agenesis, Microtia, and...

Genetic tests related to Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia:

# Genetic test Affiliating Genes
1 Deafness with Labyrinthine Aplasia, Microtia, and Microdontia 28 FGF3

Anatomical Context for Deafness, Congenital, with Inner Ear Agenesis, Microtia, and...

Organs/tissues related to Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia:

MalaCards : Eye, Skin, Prostate

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

Articles related to Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia:

(show top 50) (show all 142)
# Title Authors PMID Year
1
LAMM syndrome with middle ear dysplasia associated with compound heterozygosity for FGF3 mutations. 62 24 57 5
21480479 2011
2
Homozygous FGF3 mutations result in congenital deafness with inner ear agenesis, microtia, and microdontia. 62 24 57 5
18435799 2008
3
Homozygous mutations in fibroblast growth factor 3 are associated with a new form of syndromic deafness characterized by inner ear agenesis, microtia, and microdontia. 24 57 5
17236138 2007
4
Syndromic congenital sensorineural deafness, microtia and microdontia resulting from a novel homoallelic mutation in fibroblast growth factor 3 (FGF3). 24 57
18701883 2009
5
Genetic Spectrum of Syndromic and Non-Syndromic Hearing Loss in Pakistani Families. 5
33187236 2020
6
LAMM syndrome: two new patients with a novel mutation in FGF3 gene and additional clinical findings. 62 24
30433887 2019
7
Delayed presentation of rickets in a child with labyrinthine aplasia, microtia and microdontia (LAMM) syndrome. 62 24
25432227 2014
8
Pyridoxal phosphate-responsive seizures in a patient with cerebral folate deficiency (CFD) and congenital deafness with labyrinthine aplasia, microtia and microdontia (LAMM). 62 24
21752681 2011
9
Variable expressivity of FGF3 mutations associated with deafness and LAMM syndrome. 62 24
21306635 2011
10
A FGF3 mutation associated with differential inner ear malformation, microtia, and microdontia. 62 24
19950373 2010
11
Michel's anomaly, type I microtia and microdontia. 57
2044484 1991
12
Pediatric pedestrian injuries: emergency care considerations. 24
18090111 2007
13
SNP genome scanning localizes oto-dental syndrome to chromosome 11q13 and microdeletions at this locus implicate FGF3 in dental and inner-ear disease and FADD in ocular coloboma. 24
17656375 2007
14
Differential requirements for FGF3, FGF8 and FGF10 during inner ear development. 24
17601531 2007
15
Fgf signaling is required for zebrafish tooth development. 24
15355794 2004
16
Fgf3 and Fgf10 are required for mouse otic placode induction. 24
12810586 2003
17
Injury prevention for children with disabilities. 24
12465566 2002
18
Associations of FGF-3 and FGF-10 with signaling networks regulating tooth morphogenesis. 24
11066089 2000
19
Induction of inner ear fate by FGF3. 24
10769226 2000
20
Ejiao ameliorates lipopolysaccharide-induced pulmonary inflammation via inhibition of NFκB regulating NLRP3 inflammasome and mitochondrial ROS. 62
35714510 2022
21
Hydrocotyle bonariensis Comm ex Lamm (Araliaceae) leaves extract inhibits IKs not IKr potassium currents: Potential implications for anti-arrhythmic therapy. 62
35747353 2022
22
Lesion-associated microglia and macrophages mediate corralling and react with massive phagocytosis for debris clearance and wound healing after LPS-induced dopaminergic depletion. 62
35490443 2022
23
Experimental evaluation of a linear angular momentum multiplexed radio link for moving platforms. 62
35153586 2021
24
Complete Labyrinthine Aplasia: A Unique Sign for Targeted Genetic Testing in Hearing Loss. 62
33552643 2021
25
Polysaccharide valproates: Structure - property relationships in solution. 62
32747284 2020
26
Low Temperature Characteristics of Hydrogen Storage Alloy LaMm-Ni4.1Al0.3Mn0.4Co0.45 for Ni-MH Batteries. 62
31888168 2019
27
Three New Mutations and Mild, Asymmetrical Phenotype in the Highly Distinctive LAMM Syndrome: A Report of Eight Further Cases. 62
31336982 2019
28
Correction to: The pulvinar nucleus and antidepressant treatment: dynamic modeling of antidepressant response and remission with ultra-high field functional MRI. 62
29520037 2019
29
Corrosion of Hydrogen Storage Metal Alloy LaMm-Ni4.1Al0.3Mn0.4Co0.45 in the Aqueous Solutions of Alkali Metal Hydroxides. 62
30513583 2018
30
Two-dimensional grid optimization for sedimentation velocity analysis in the analytical ultracentrifuge. 62
29777290 2018
31
Multi-speed sedimentation velocity simulations with UltraScan-III. 62
29748855 2018
32
Prediction and analysis of analytical ultracentrifugation experiments for heterogeneous macromolecules and nanoparticles based on Brownian dynamics simulation. 62
30030576 2018
33
I-LAMM FOR SPARSE LEARNING: SIMULTANEOUS CONTROL OF ALGORITHMIC COMPLEXITY AND STATISTICAL ERROR. 62
29930436 2018
34
Allowance for boundary sharpening in the determination of diffusion coefficients by sedimentation velocity: a historical perspective. 62
29380276 2018
35
Brownian dynamics simulations of analytical ultracentrifugation experiments exhibiting hydrodynamic and thermodynamic non-ideality. 62
29131217 2017
36
Microwave-Assisted Synthesis of Nickel Oxide Nanoparticles Using Coriandrum sativum Leaf Extract and Their Structural-Magnetic Catalytic Properties. 62
28772818 2017
37
Quantifying Trace Amounts of Aggregates in Biopharmaceuticals Using Analytical Ultracentrifugation Sedimentation Velocity: Bayesian Analyses and F Statistics. 62
27184576 2016
38
Variable Field Analytical Ultracentrifugation: II. Gravitational Sweep Sedimentation Velocity. 62
26745414 2016
39
Guarding against Spurious Discoveries in High Dimensions. 62
28936128 2016
40
Reply to Stephen B. Williams, Donald L. Lamm, Ashish M. Kamat's Letter to the Editor re: Richard J. Sylvester, Willem Oosterlinck, Sten Holmang, et al. Systematic Review and Individual Patient Data Meta-analysis of Randomized Trials Comparing a Single Immediate Instillation of Chemotherapy After Transurethral Resection with Transurethral Resection Alone in Patients with Stage pTa-pT1 Urothelial Carcinoma of the Bladder: Which Patients Benefit from the Instillation? Eur Urol. In press. http://dx.doi.org/10.1016/j.eururo.2015.05.050. 62
26320375 2015
41
Making the ineffable visible. 62
26348241 2015
42
Variable-Field Analytical Ultracentrifugation: I. Time-Optimized Sedimentation Equilibrium. 62
26287634 2015
43
Peritoneal tuberculosis presenting as recurrent peritonitis secondary to treatment with intravesical Bacillus Calmette-Guérin in a patient receiving peritoneal dialysis. 62
25713719 2015
44
Sedimentation Velocity: A Classical Perspective. 62
26412647 2015
45
Concentration dependence of translational diffusion coefficients for globular proteins. 62
25306977 2014
46
Re: defining progression in nonmuscle invasive bladder cancer: it is time for a new, standard definition. D. Lamm, R. Persad, M. Brausi, R. Buckley, J. A. Witjes, J. Palou, A. Böhle, A. M. Kamat, M. Colombel and M. Soloway J Urol 2014;191:20-27. 62
24625761 2014
47
Acoustic masking disrupts time-dependent mechanisms of memory encoding in word-list recall. 62
24838269 2014
48
A parametrically constrained optimization method for fitting sedimentation velocity experiments. 62
24739173 2014
49
Reply to Donald L. Lamm and Nilay M. Gandhi's letter to the editor re: Behfar Ehdaie, Richard Sylvester, Harry W. Herr. Maintenance bacillus Calmette-Guérin treatment of non-muscle-invasive bladder cancer: a critical evaluation of the evidence. Eur Urol 2013;64:579-85. 62
24113320 2014
50
Treatment efficacy and tolerability of intravesical bacillus Calmette-Guerin (BCG)-RIVM strain: induction and maintenance protocol in high grade and recurrent low grade non-muscle invasive bladder cancer (NMIBC). 62
24468269 2014

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

ClinVar genetic disease variations for Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia:

5 (show all 17)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LOC109115964, FGF3 NM_005247.4(FGF3):c.146A>G (p.Tyr49Cys) SNV Pathogenic
29816 rs281860300 GRCh37: 11:69633556-69633556
GRCh38: 11:69818788-69818788
2 FGF3 NM_005247.4(FGF3):c.317A>G (p.Tyr106Cys) SNV Pathogenic
29817 rs281860306 GRCh37: 11:69631095-69631095
GRCh38: 11:69816327-69816327
3 FGF3 NM_005247.4(FGF3):c.457_458del (p.Trp153fs) MICROSAT Pathogenic
29818 rs281860307 GRCh37: 11:69625335-69625336
GRCh38: 11:69810567-69810568
4 FGF3 NM_005247.4(FGF3):c.270dup (p.Leu91fs) DUP Pathogenic
417891 rs1554981083 GRCh37: 11:69631141-69631142
GRCh38: 11:69816373-69816374
5 FGF3 NM_005247.4(FGF3):c.255del (p.Ile85fs) DEL Pathogenic
13842 rs281860302 GRCh37: 11:69631157-69631157
GRCh38: 11:69816389-69816389
6 LOC109115964, FGF3 NM_005247.4(FGF3):c.17T>C (p.Leu6Pro) SNV Pathogenic
13841 rs121917706 GRCh37: 11:69633685-69633685
GRCh38: 11:69818917-69818917
7 LOC109115964, FGF3 NM_005247.4(FGF3):c.196G>T (p.Gly66Cys) SNV Pathogenic
13840 rs121917705 GRCh37: 11:69633506-69633506
GRCh38: 11:69818738-69818738
8 FGF3 NM_005247.4(FGF3):c.616del (p.Val206fs) DEL Pathogenic
13839 rs281860305 GRCh37: 11:69625177-69625177
GRCh38: 11:69810409-69810409
9 FGF3 NM_005247.4(FGF3):c.310C>T (p.Arg104Ter) SNV Pathogenic
13838 rs121917704 GRCh37: 11:69631102-69631102
GRCh38: 11:69816334-69816334
10 FGF3 NM_005247.4(FGF3):c.466T>C (p.Ser156Pro) SNV Pathogenic
13837 rs121917703 GRCh37: 11:69625327-69625327
GRCh38: 11:69810559-69810559
11 FGF3 NM_005247.4(FGF3):c.462C>G (p.Tyr154Ter) SNV Likely Pathogenic
627444 rs782712529 GRCh37: 11:69625331-69625331
GRCh38: 11:69810563-69810563
12 LOC109115964, FGF3 NM_005247.4(FGF3):c.166C>T (p.Leu56Phe) SNV Likely Pathogenic
996770 rs782324453 GRCh37: 11:69633536-69633536
GRCh38: 11:69818768-69818768
13 FGF3 NM_005247.4(FGF3):c.431del (p.Arg144fs) DEL Likely Pathogenic
1677104 GRCh37: 11:69625362-69625362
GRCh38: 11:69810594-69810594
14 LOC109115964, FGF3 NM_005247.4(FGF3):c.100G>T (p.Gly34Cys) SNV Uncertain Significance
426706 rs1039515359 GRCh37: 11:69633602-69633602
GRCh38: 11:69818834-69818834
15 FGF3 NM_005247.4(FGF3):c.394del (p.Arg132fs) DEL Not Provided
38386 rs281860304 GRCh37: 11:69625399-69625399
GRCh38: 11:69810631-69810631
16 FGF3 NM_005247.4(FGF3):c.283C>T (p.Arg95Trp) SNV Not Provided
38385 rs281860303 GRCh37: 11:69631129-69631129
GRCh38: 11:69816361-69816361
17 LOC109115964, FGF3 NM_005247.4(FGF3):c.150C>A (p.Cys50Ter) SNV Not Provided
38384 rs281860301 GRCh37: 11:69633552-69633552
GRCh38: 11:69818784-69818784

UniProtKB/Swiss-Prot genetic disease variations for Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia:

73
# Symbol AA change Variation ID SNP ID
1 FGF3 p.Ser156Pro VAR_031848 rs121917703
2 FGF3 p.Leu6Pro VAR_060492 rs121917706

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

Search GEO for disease gene expression data for Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia.

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

GO Terms for Deafness, Congenital, with Inner Ear Agenesis, Microtia, and...

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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
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35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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