MCID: LRY029
MIFTS: 47

Laryngomalacia

Categories: Fetal diseases, Oral diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Laryngomalacia

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:

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

Summaries for Laryngomalacia

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), and among its related pathways/superpathways is MECP2 and Associated Rett Syndrome. 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

Related Diseases for Laryngomalacia

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

(show top 50) (show all 113)
# 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 cyanosis, transient neonatal 10.4
9 bronchomalacia 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 tukel syndrome 10.0 KIF1A CHN1
36 pfeiffer syndrome 9.9
37 branchiootorenal syndrome 1 9.9
38 cleft palate, isolated 9.9
39 coloboma of macula 9.9
40 hypertelorism 9.9
41 strabismus 9.9
42 tetralogy of fallot 9.9
43 digeorge syndrome 9.9
44 down syndrome 9.9
45 velocardiofacial syndrome 9.9
46 alopecia universalis congenita 9.9
47 charge syndrome 9.9
48 hydrocephalus, congenital, 1 9.9
49 muscular dystrophy-dystroglycanopathy , type a, 1 9.9
50 vici syndrome 9.9

Graphical network of the top 20 diseases related to Laryngomalacia:



Diseases related to Laryngomalacia

Symptoms & Phenotypes for Laryngomalacia

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 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.08 CHN1 EYA1 KIF1A MECP2 MTOR NFIX
2 growth/size/body region MP:0005378 10.03 CHN1 EYA1 KIF1A MECP2 MTOR NFIX
3 mortality/aging MP:0010768 9.92 CHN1 EYA1 KIF1A MECP2 MTOR NFIX
4 homeostasis/metabolism MP:0005376 9.91 CHN1 EYA1 MECP2 MTOR NFIX POMGNT1
5 adipose tissue MP:0005375 9.89 CHN1 EYA1 MECP2 MTOR NFIX
6 nervous system MP:0003631 9.8 CHN1 EYA1 KIF1A MECP2 MTOR NFIX
7 craniofacial MP:0005382 9.76 EYA1 MECP2 NFIX POMGNT1
8 hearing/vestibular/ear MP:0005377 9.71 EYA1 KIF1A MECP2 NFIX
9 normal MP:0002873 9.55 CHN1 EYA1 MECP2 MTOR NFIX
10 skeleton MP:0005390 9.35 CHN1 EYA1 MECP2 MTOR NFIX
11 vision/eye MP:0005391 9.02 CHN1 EYA1 MECP2 NFIX POMGNT1

Drugs & Therapeutics for Laryngomalacia

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

(show all 16)
# 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 Hemostatics Phase 2
5 Anesthetics, Local Phase 2
6 Coagulants Phase 2
7
Acetaminophen Approved 103-90-2 1983
8
Ibuprofen Approved 15687-27-1 3672
9
Codeine Approved, Illicit 76-57-3 5284371
10
Ethanol Approved 64-17-5 702
11 Adrenergic beta-Agonists
12 Adrenergic Agents
13 Narcotics
14 Analgesics
15 Anti-Bacterial Agents
16 Antibiotics, Antitubercular

Interventional clinical trials:

(show all 15)
# 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 Efficacy of Transgastrostomal Esophagogastroduodenoscopies in Children Not yet recruiting NCT04309825
14 Treatment of Children With Obstructive Sleep Apnea and Laryngomalacia: the Role of Laser Supraglottoplasty Terminated NCT00394550
15 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

Genetic Tests for Laryngomalacia

Genetic tests related to Laryngomalacia:

# Genetic test Affiliating Genes
1 Laryngomalacia 29

Anatomical Context for Laryngomalacia

MalaCards organs/tissues related to Laryngomalacia:

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

Publications for Laryngomalacia

Articles related to Laryngomalacia:

(show top 50) (show all 704)
# 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. 52 61
23078980 2012
6
Validity of laryngomalacia classification systems: A multi-institutional agreement study. 61
32198979 2020
7
Vallecular cyst with coexisting laryngomalacia: Successful diagnosis and laser therapy by flexible endoscopy with a novel noninvasive ventilation support in infants. 61
32343051 2020
8
Laryngomalacia in Neonates Versus Older Infants: HCUP-KID Perspective. 61
32111124 2020
9
Three-dimensional finite element modeling for evaluation of laryngomalacia severity in infants and children. 61
32493145 2020
10
Prevalence and natural history of obstructive sleep apnea in pediatric patients with laryngomalacia. 61
32120133 2020
11
Prematurity and associated future paediatric airway pathology: experience from a single tertiary paediatric ENT centre. 61
32556789 2020
12
Exercise-induced laryngeal obstruction (EILO) in children and young adults: From referral to diagnosis. 61
31498449 2020
13
Sleep disordered breathing in children with trisomy 13 and trisomy 18. 61
32522368 2020
14
Surgical Intervention for Laryngomalacia: Age-Related Differences in Postoperative Sequelae. 61
32468827 2020
15
Supraglottoplasty in Neonates under One Month of Age. 61
31875410 2020
16
Age and Upper Airway Obstruction: A Challenge to the Clinical Approach in Pediatric Patients. 61
32443526 2020
17
Office-Based Lower Airway Endoscopy: Feasibility and Safety. 61
32413163 2020
18
De novo variants in SIAH1, encoding an E3 ubiquitin ligase, are associated with developmental delay, hypotonia and dysmorphic features. 61
32430360 2020
19
A seven-month-old with chronic intermittent biphasic stridor. 61
32320263 2020
20
Correlation between the clinical severity of laryngomalacia and endoscopic findings. 61
32291428 2020
21
Differential diagnosis and management of adult-onset laryngomalacia. 61
32278471 2020
22
Update on Pregnancy after Heart Transplantation. 61
32464898 2020
23
Side effects and complications of injection laryngoplasty for treatment of congenital type 1 laryngeal clefts. 61
31968273 2020
24
Carbon dioxide laser versus cold-steel supraglottoplasty: A comparison of post-operative outcomes. 61
31884047 2020
25
Update on protracted bacterial bronchitis in children. 61
32228653 2020
26
Detection of Pepsin in Oral Secretions of Infants with and without Laryngomalacia. 61
31631681 2020
27
Congenital laryngomalacia: Is it an inflammatory disease? The role of vitamin D. 61
30972761 2020
28
Chemical receptors of the arytenoid: A comparison of human and mouse. 61
30908677 2020
29
Innovative management of severe tracheobronchomalacia using anterior and posterior tracheobronchopexy. 61
30908672 2020
30
Microdeletion and microduplication of 1p36.11p35.3 involving AHDC1 contribute to neurodevelopmental disorder. 61
30615951 2020
31
Decoding supraglottic stenosis. 61
31602523 2020
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 2020
33
Optimal duration of mechanical ventilation and influencing factors following mandibular distraction osteogenesis in infants with Pierre Robin sequence. 61
31860988 2019
34
Laryngomalacia and Swallow Dysfunction. 61
31119989 2019
35
[Therapeutic evaluation of modified supraglottoplasty for laryngomalacia]. 61
31914298 2019
36
Homozygous missense variant in BMPR1A resulting in BMPR signaling disruption and syndromic features. 61
31493347 2019
37
Unilateral vs Bilateral Supraglottoplasty: A Meta-analysis of Rates of Return to Surgery and Supraglottic Stenosis. 61
31184252 2019
38
Airway anomalies in patients with craniosynostosis. 61
30456762 2019
39
Associations between age, respiratory comorbidities, and dysphagia in infants with down syndrome. 61
31402588 2019
40
Further phenotypic characterization of Kaufman oculocerebrofacial syndrome: report of five new cases and literature review. 61
31162149 2019
41
Stridor Secondary to Acquired Subglottic Cyst: Rarity Makes it Missed. 61
31741928 2019
42
Coagulation of the lateral surface of aryepiglottic folds as an alternative to aryepiglottic fold release in management of type 2 laryngomalacia. 61
31677853 2019
43
Polysomnography Outcomes after Supraglottoplasty in Children with Obstructive Sleep Apnea. 61
31012379 2019
44
Harmonic Shears in the Surgical Treatment of Laryngomalacia. 61
31772850 2019
45
An Interesting Secondary Airway Lesion in an Infant With Laryngomalacia. 61
31550930 2019
46
The role of laryngeal ultrasound in diagnosis of infant laryngomalacia. 61
31176024 2019
47
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
48
Mid-Term Outcome of Mandibular Distraction Osteogenesis in Pierre Robin Sequence. 61
31335579 2019
49
Molecular cytogenetic characterization of partial monosomy 2p and trisomy 16q in a newborn: A case report. 61
31363371 2019
50
Flexible Fiberoptic Bronchoscopy Directed Interventions in Neonatal Intensive Care Unit. 61
31333210 2019

Variations for Laryngomalacia

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 rs771409809 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 MECP2 NM_001110792.2(MECP2):c.148_152del (p.Glu50fs)deletion Likely pathogenic 813009 X:153297919-153297923 X:154032468-154032472
4 CHN1 NM_001822.7(CHN1):c.667G>A (p.Ala223Thr)SNV Likely pathogenic 598971 rs1558939623 2:175689207-175689207 2:174824479-174824479
5 KIF1A NM_001244008.1(KIF1A):c.3052C>T (p.His1018Tyr)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

Expression for Laryngomalacia

Search GEO for disease gene expression data for Laryngomalacia.

Pathways for Laryngomalacia

Pathways related to Laryngomalacia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.42 MTOR MECP2

GO Terms for Laryngomalacia

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 regulation of GTPase activity GO:0043087 9.32 MTOR CHN1
2 post-embryonic development GO:0009791 9.26 MTOR MECP2
3 social behavior GO:0035176 9.16 MTOR MECP2
4 visual learning GO:0008542 8.96 MTOR MECP2
5 long-term memory GO:0007616 8.62 MTOR MECP2

Sources for Laryngomalacia

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
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