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MCID: LRY029
MIFTS: 45

Laryngomalacia

Categories: Fetal diseases, Oral diseases, Rare diseases, Respiratory diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs
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Aliases & Classifications for Laryngomalacia

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MalaCards integrated aliases for Laryngomalacia:

Name: Laryngomalacia 56 74 52 29 6
Congenital Laryngomalacia 52 58 32
Congenital Laryngeal Stridor 52
Laryngomalacia Congenital 52

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
laryngomalacia:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases
Anatomical: Respiratory diseases Oral diseases
See all MalaCards categories (disease lists)
ICD10: 32 33
Orphanet: 58  
Rare otorhinolaryngological diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 150280
ICD10 32 Q31.5
MESH via Orphanet 44 D055092
ICD10 via Orphanet 33 Q31.5
UMLS via Orphanet 72 C0345160
Orphanet 58 ORPHA2373
MedGen 41 C0264303
Sources

Summaries for Laryngomalacia

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NIH Rare Diseases : 52 Laryngomalacia is an abnormality of the voice box (larynx) that leads to the inward collapse of the airway when air is drawn into the lungs (inspiration). It usually becomes apparent at birth or shortly after birth. The most common symptom is noisy breathing (stridor) that is often worse when the infant is on his/her back or crying. In more severe cases, symptoms may include difficulty breathing with the chest pulling inward (retraction), poor weight gain from difficulty feeding, apnea , and cyanosis . The underlying cause of the condition is unknown. Most cases occur sporadically in people with no family history of the condition. In 90% of affected infants, laryngomalacia will resolve on its own by the time an infant is 18 to 20 months old. However, severe cases may require immediate medical treatment such as medication or surgery.

MalaCards based summary : Laryngomalacia, also known as congenital laryngomalacia, is related to alopecia universalis congenita, xy gonadal dysgenesis, and laryngomalacia and fontaine progeroid syndrome. An important gene associated with Laryngomalacia is WFS1 (Wolframin ER Transmembrane Glycoprotein). The drugs Bupivacaine and Anesthetics have been mentioned in the context of this disorder. Affiliated tissues include lung, trachea and heart, and related phenotypes are laryngomalacia and abnormality of the voice

Wikipedia : 74 Laryngomalacia (literally, "soft larynx") is the most common cause of chronic stridor in infancy, in... more...

More information from OMIM: 150280
Sources

Related Diseases for Laryngomalacia

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Diseases related to Laryngomalacia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 107)
# Related Disease Score Top Affiliating Genes
1 alopecia universalis congenita, xy gonadal dysgenesis, and laryngomalacia 12.4
2 fontaine progeroid syndrome 11.3
3 larynx anomaly 10.8
4 sleep apnea 10.6
5 gastroesophageal reflux 10.6
6 tracheomalacia 10.5
7 dysphagia 10.4
8 bronchomalacia 10.4
9 cyanosis, transient neonatal 10.4
10 apnea, obstructive sleep 10.3
11 pectus excavatum 10.3
12 cerebral palsy 10.3
13 hypotonia 10.3
14 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
15 microcephaly 10.2
16 squamous cell papilloma 10.2
17 papilloma 10.2
18 craniosynostosis 10.1
19 croup 10.1
20 arthrogryposis, distal, type 2a 10.1
21 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.1
22 sudden infant death syndrome 10.1
23 brittle bone disorder 10.1
24 choanal atresia, posterior 10.1
25 aspiration pneumonia 10.1
26 ptosis 10.1
27 sensorineural hearing loss 10.1
28 laryngeal disease 10.1
29 cleft lip 10.1
30 chiari malformation 10.1
31 tracheobronchomalacia 10.1
32 macroglossia 10.0
33 hydrocephalus 10.0
34 laryngocele 10.0
35 pfeiffer syndrome 9.9
36 branchiootorenal syndrome 1 9.9
37 cleft palate, isolated 9.9
38 coloboma of macula 9.9
39 hypertelorism 9.9
40 strabismus 9.9
41 tetralogy of fallot 9.9
42 digeorge syndrome 9.9
43 down syndrome 9.9
44 velocardiofacial syndrome 9.9
45 alopecia universalis congenita 9.9
46 charge syndrome 9.9
47 hydrocephalus, congenital, 1 9.9
48 muscular dystrophy-dystroglycanopathy , type a, 1 9.9
49 vici syndrome 9.9
50 ocular motor apraxia 9.9

Graphical network of the top 20 diseases related to Laryngomalacia:



Diseases related to Laryngomalacia
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Symptoms & Phenotypes for Laryngomalacia

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Human phenotypes related to Laryngomalacia:

58 31 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 laryngomalacia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001601
2 abnormality of the voice 58 31 hallmark (90%) Very frequent (99-80%) HP:0001608
3 cleft palate 58 31 frequent (33%) Frequent (79-30%) HP:0000175
4 non-midline cleft lip 58 31 frequent (33%) Frequent (79-30%) HP:0100335
5 respiratory distress 31 HP:0002098
6 abnormal trachea morphology 31 HP:0002778
7 congenital laryngeal stridor 31 HP:0004886

Symptoms via clinical synopsis from OMIM:

56
Resp:
laryngomalacia
respiratory distress
congenital stridor

Lab:
tracheal cartilage hypercellularity and tinctorial peculiarities of the matrix

Clinical features from OMIM:

150280

MGI Mouse Phenotypes related to Laryngomalacia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.91 CHN1 EYA1 KIF1A MTOR NFIX POMGNT1
2 growth/size/body region MP:0005378 9.8 CHN1 EYA1 KIF1A MTOR NFIX POMGNT1
3 mortality/aging MP:0010768 9.7 CHN1 EYA1 KIF1A MTOR NFIX POMGNT1
4 digestive/alimentary MP:0005381 9.62 EYA1 NFIX POMGNT1 WFS1
5 muscle MP:0005369 9.26 CHN1 EYA1 MTOR POMGNT1
6 nervous system MP:0003631 9.1 CHN1 EYA1 KIF1A MTOR NFIX POMGNT1
Sources

Drugs & Therapeutics for Laryngomalacia

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Drugs for Laryngomalacia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 17)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bupivacaine Approved, Investigational Phase 2 2180-92-9, 38396-39-3 2474
2 Anesthetics Phase 2
3 Fibrin Tissue Adhesive Phase 2
4 Anesthetics, Local Phase 2
5 Coagulants Phase 2
6 Hemostatics Phase 2
7 Central Nervous System Depressants Phase 2
8
Ethanol Approved 64-17-5 702
9
Acetaminophen Approved 103-90-2 1983
10
Ibuprofen Approved 15687-27-1 3672
11
Codeine Approved, Illicit 76-57-3 5284371
12 Adrenergic beta-Agonists
13 Adrenergic Agents
14 Narcotics
15 Antibiotics, Antitubercular
16 Analgesics
17 Anti-Bacterial Agents

Interventional clinical trials:

(show all 14)
# Name Status NCT ID Phase Drugs
1 A New Nasopharyngeal pH Probe for Diagnosis of Laryngopharyngeal Reflux Withdrawn NCT01308502 Phase 4
2 Effect of Bupivacaine-infused Fibrin Sealant Application on Post-tonsillectomy Pain & Hemorrhage: a Clinical Trial. Terminated NCT02343263 Phase 2 Bupivacaine
3 Improving Care For Infants With Laryngomalacia: A Pilot Randomized Controlled Trial of Omeprazole Versus Placebo Withdrawn NCT01782560 Phase 1 Omeprazole;Placebo
4 Treatment of Exercise-induced Laryngomalacia in Elite Athletes Unknown status NCT00520624
5 The Yield of Laryngeal Ultrasound in the Diagnosis of Laryngomalacia Unknown status NCT01991964
6 The Yield of Laryngeal Ultrasound in the Evaluation of Stridor and Dysphonia in Children Unknown status NCT02244697
7 Discovering Laryngomalacia Completed NCT01165489
8 Laryngomalacia No Longer An Ambiguity Completed NCT00972764
9 Laryngomalacia Exposed Completed NCT01042223
10 Contribution of Drug Induced Sleep Endoscopy in the Management of Pediatric Obstructive Sleep Apnea Hypopnea Syndrome Completed NCT03845062
11 Role of Sleep Apnea in the Neuropsychological Function in Down Syndrome People Completed NCT03267602
12 The Genetics of Severe Asthma in Children Recruiting NCT01238432
13 Treatment of Children With Obstructive Sleep Apnea and Laryngomalacia: the Role of Laser Supraglottoplasty Active, not recruiting NCT00394550
14 In Infants With Symptoms of Tracheomalacia or Laryngomalacia, Does Acid-Blocking Medication Improve Respiratory Symptoms? A Randomized, Controlled Trial Withdrawn NCT02700087 ranitidine or famotidine;Placebo

Search NIH Clinical Center for Laryngomalacia

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Genetic Tests for Laryngomalacia

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Genetic tests related to Laryngomalacia:

# Genetic test Affiliating Genes
1 Laryngomalacia 29
Sources

Anatomical Context for Laryngomalacia

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MalaCards organs/tissues related to Laryngomalacia:

40
Lung, Trachea, Heart, Thyroid, Tongue, Bone, Thymus
Sources

Publications for Laryngomalacia

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Articles related to Laryngomalacia:

(show top 50) (show all 682)
# Title Authors PMID Year
1
Autosomal dominant congenital laryngomalacia. 56 61
1554019 1992
2
Familial laryngomalacia: a case report. 56 61
1256207 1976
3
Relative imbalance as etiology of laryngomalacia - A new theory. 61 52
28012601 2017
4
Laryngomalacia. 61 52
27301595 2016
5
Pathophysiology and diagnostic approach to laryngomalacia in infants. 61 52
23078980 2012
6
Laryngomalacia and Swallow Dysfunction. 61
31119989 2019
7
Unilateral vs Bilateral Supraglottoplasty: A Meta-analysis of Rates of Return to Surgery and Supraglottic Stenosis. 61
31184252 2019
8
Homozygous missense variant in BMPR1A resulting in BMPR signaling disruption and syndromic features. 61
31493347 2019
9
Airway anomalies in patients with craniosynostosis. 61
30456762 2019
10
Associations between age, respiratory comorbidities, and dysphagia in infants with down syndrome. 61
31402588 2019
11
Decoding supraglottic stenosis. 61
31602523 2019
12
Further phenotypic characterization of Kaufman oculocerebrofacial syndrome: report of five new cases and literature review. 61
31162149 2019
13
Stridor Secondary to Acquired Subglottic Cyst: Rarity Makes it Missed. 61
31741928 2019
14
Coagulation of the lateral surface of aryepiglottic folds as an alternative to aryepiglottic fold release in management of type 2 laryngomalacia. 61
31677853 2019
15
Polysomnography Outcomes after Supraglottoplasty in Children with Obstructive Sleep Apnea. 61
31012379 2019
16
Harmonic Shears in the Surgical Treatment of Laryngomalacia. 61
31772850 2019
17
Detection of Pepsin in Oral Secretions of Infants with and without Laryngomalacia. 61
31631681 2019
18
The role of laryngeal ultrasound in diagnosis of infant laryngomalacia. 61
31176024 2019
19
An Interesting Secondary Airway Lesion in an Infant With Laryngomalacia. 61
31550930 2019
20
Airway Obstruction Caused by Mucinous Material Adherent to the Epiglottis in a Patient with a Progressive Neurological Disorder: An Unusual Case of a Condition Mimicking Acquired Laryngomalacia. 61
31178481 2019
21
Mid-Term Outcome of Mandibular Distraction Osteogenesis in Pierre Robin Sequence. 61
31335579 2019
22
Exercise-induced laryngeal obstruction (EILO) in children and young adults: From referral to diagnosis. 61
31498449 2019
23
Molecular cytogenetic characterization of partial monosomy 2p and trisomy 16q in a newborn: A case report. 61
31363371 2019
24
The Incidence of Sleep Disordered Breathing One Week After Primary Palatoplasty: Evaluation With Overnight Pulse Oximetry. 61
31299769 2019
25
Flexible Fiberoptic Bronchoscopy Directed Interventions in Neonatal Intensive Care Unit. 61
31333210 2019
26
The Incidence of Sleep Disordered Breathing One Week After Primary Palatoplasty: Evaluation With Overnight Pulse Oximetry. 61
30985504 2019
27
Stridor as initial presentation of rolandic epilepsy. 61
30743165 2019
28
Epiglottopexy by external puncture for epiglottic prolapse in severe laryngomalacia. A novel technique. 61
30528156 2019
29
Complete polysomnographic parameters in infants with severe laryngomalacia prior to and after supraglottoplasty. 61
30708179 2019
30
Congenital laryngomalacia: Is it an inflammatory disease? The role of vitamin D. 61
30972761 2019
31
Congenital Vertical Tracheal Septum Misdiagnosed as Laryngomalacia. 61
30407842 2019
32
Extending the phenotype of Xia-Gibbs syndrome in a two-year-old patient with craniosynostosis with a novel de novo AHDC1 missense mutation. 61
30858058 2019
33
Exercise-Induced Dyspnea in Children and Adolescents: Differential Diagnosis. 61
30874820 2019
34
Chemical receptors of the arytenoid: A comparison of human and mouse. 61
30908677 2019
35
Prevalence of voice disturbances in pediatric airway patients: Are we missing anything? 61
30583194 2019
36
Innovative management of severe tracheobronchomalacia using anterior and posterior tracheobronchopexy. 61
30908672 2019
37
Vocal cord immobility as a cause of aphonia in a child with 3p13p12 deletion syndrome encompassing FOXP1 gene. 61
30579078 2019
38
Evaluation of Aspiration in Infants With Laryngomalacia and Recurrent Respiratory and Feeding Difficulties. 61
30589926 2019
39
Silent Aspiration in Laryngomalacia-Not a Hard Concept to Swallow. 61
30589931 2019
40
Does supraglottoplasty improve outcomes in children with laryngomalacia? 61
30329149 2019
41
Neurologically acquired laryngomalacia in a pediatric patient with Moyamoya: A case report and literature review. 61
30554704 2019
42
Microdeletion and microduplication of 1p36.11p35.3 involving AHDC1 contribute to neurodevelopmental disorder. 61
30615951 2019
43
Partial Trisomy of Chromosome 13 with a Novel Translocation (8 ; 13) and Unique Clinical Presentation in a Palestinian Infant. 61
30936921 2019
44
Genotypic and phenotypic correlations of biotinidase deficiency in the Chinese population. 61
30616616 2019
45
Cost-effectiveness of home mechanical ventilation in children living in a developing country. 61
31280550 2019
46
An Unusual Case of Noisy Breathing in an Infant. 61
30621832 2019
47
Case report of a laryngotracheal reconstruction with anterior and posterior costal cartilage graft and stent placement - Surgical technique. 61
31039513 2019
48
Outcomes and swallowing evaluations after injection laryngoplasty for type I laryngeal cleft: Does age matter? 61
30368367 2018
49
Maternally inherited 133kb deletion of 14q32 causing Kagami-Ogata syndrome. 61
30232357 2018
50
A bizarre case of accessory larynx in an infant with OEIS syndrome. 61
30262351 2018
Sources

Variations for Laryngomalacia

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ClinVar genetic disease variations for Laryngomalacia:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 WFS1 NM_006005.3(WFS1):c.1999C>T (p.Gln667Ter)SNV Pathogenic 598973 4:6303521-6303521 4:6301794-6301794
2 NFIX NM_002501.4(NFIX):c.440G>A (p.Gly147Glu)SNV Likely pathogenic 627622 rs1568269273 19:13136247-13136247 19:13025433-13025433
3 CHN1 NM_001822.5(CHN1):c.667G>A (p.Ala223Thr)SNV Likely pathogenic 598971 rs1558939623 2:175689207-175689207 2:174824479-174824479
4 KIF1A NM_004321.7(KIF1A):c.2749C>T (p.His917Tyr)SNV Uncertain significance 598972 rs1356639316 2:241686664-241686664 2:240747247-240747247

Copy number variations for Laryngomalacia from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 30297 1 241700000 247249719 Deletion laryngomalacia
2 51760 11 130300000 134452384 Duplication laryngomalacia
Sources

Expression for Laryngomalacia

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Search GEO for disease gene expression data for Laryngomalacia.
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Pathways for Laryngomalacia

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Sources

GO Terms for Laryngomalacia

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Cellular components related to Laryngomalacia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 dendrite GO:0030425 8.8 WFS1 MTOR KIF1A

Biological processes related to Laryngomalacia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sensory perception of sound GO:0007605 8.96 WFS1 EYA1
2 regulation of GTPase activity GO:0043087 8.62 MTOR CHN1
Sources

Sources for Laryngomalacia

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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