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MCID: LRY029
MIFTS: 42

Laryngomalacia

Categories: Rare diseases, Respiratory diseases, Oral diseases, Fetal 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 57 76 53 29
Congenital Laryngeal Stridor 53 29
Congenital Laryngomalacia 53 59
Laryngomalacia Congenital 53

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
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: 34 33
Orphanet: 59  
Rare otorhinolaryngological diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 57 150280
Orphanet 59 ORPHA2373
UMLS via Orphanet 74 C0345160
ICD10 via Orphanet 34 Q31.5
MESH via Orphanet 45 D055092
MedGen 42 C0264303
ICD10 33 Q31.5
Sources

Summaries for Laryngomalacia

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NIH Rare Diseases : 53 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 laryngeal stridor, is related to alopecia universalis congenita, xy gonadal dysgenesis, and laryngomalacia and fontaine progeroid syndrome. An important gene associated with Laryngomalacia is EYA1 (EYA Transcriptional Coactivator And Phosphatase 1). The drugs Proton Pump Inhibitors and Temazepam have been mentioned in the context of this disorder. Affiliated tissues include lung and trachea, and related phenotypes are cleft palate and laryngomalacia

Wikipedia : 76 Laryngomalacia (literally, \"soft larynx\") is the most common cause of chronic stridor in infancy, in... more...

Description 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 all 48)
# Related Disease Score Top Affiliating Genes
1 alopecia universalis congenita, xy gonadal dysgenesis, and laryngomalacia 12.0
2 fontaine progeroid syndrome 11.0
3 sleep apnea 10.3
4 apnea, obstructive sleep 10.2
5 laryngitis 10.1
6 tracheomalacia 10.0
7 epiglottitis 10.0
8 gastroesophageal reflux 9.9
9 pectus excavatum 9.9
10 bronchomalacia 9.9
11 thyroglossal duct cyst, familial 9.8
12 arthrogryposis, distal, type 2a 9.8
13 aging 9.8
14 asthma 9.8
15 brittle bone disorder 9.8
16 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.8
17 cerebral palsy 9.8
18 craniosynostosis 9.8
19 cerebritis 9.8
20 croup 9.8
21 chiari malformation 9.8
22 dysphagia 9.8
23 pfeiffer syndrome 9.7
24 tetralogy of fallot 9.7
25 digeorge syndrome 9.7
26 alopecia universalis congenita 9.7
27 vici syndrome 9.7
28 choanal atresia, posterior 9.7
29 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 9.7
30 alopecia 9.7
31 hemangioma 9.7
32 cardiac arrest 9.7
33 mucositis 9.7
34 sensorineural hearing loss 9.7
35 microcephaly 9.7
36 gonadal dysgenesis 9.7
37 sleep disorder 9.7
38 dystonia 9.7
39 achalasia 9.7
40 central sleep apnea 9.7
41 waardenburg's syndrome 9.7
42 type i 9.7
43 hemangioendothelioma 9.7
44 kaposiform hemangioendothelioma 9.7
45 pulmonary sequestration 9.7
46 isolated pierre robin sequence 9.7
47 encephalopathy 9.7
48 hypoxia 9.7

Graphical network of the top 20 diseases related to Laryngomalacia:



Diseases related to Laryngomalacia
Sources

Symptoms & Phenotypes for Laryngomalacia

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Symptoms via clinical synopsis from OMIM:

57
Resp:
laryngomalacia
congenital stridor
respiratory distress

Lab:
tracheal cartilage hypercellularity and tinctorial peculiarities of the matrix


Clinical features from OMIM:

150280

Human phenotypes related to Laryngomalacia:

59 32 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cleft palate 59 32 frequent (33%) Frequent (79-30%) HP:0000175
2 laryngomalacia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001601
3 abnormality of the voice 59 32 hallmark (90%) Very frequent (99-80%) HP:0001608
4 non-midline cleft lip 59 32 frequent (33%) Frequent (79-30%) HP:0100335
5 respiratory distress 32 HP:0002098
6 abnormal trachea morphology 32 HP:0002778
7 congenital laryngeal stridor 32 HP:0004886

GenomeRNAi Phenotypes related to Laryngomalacia according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased Nanog expression GR00371-A-1 8.8 EYA1
2 Increased Nanog expression GR00371-A-5 8.8 EYA1 MTOR

MGI Mouse Phenotypes related to Laryngomalacia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.13 POMGNT1 EYA1 MTOR
2 muscle MP:0005369 8.8 EYA1 MTOR POMGNT1
Sources

Drugs & Therapeutics for Laryngomalacia

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

(show all 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Proton Pump Inhibitors Phase 1,Not Applicable
2
Temazepam Approved, Investigational Not Applicable 846-50-4 5391
3
Acetaminophen Approved Not Applicable 103-90-2 1983
4
Codeine Approved, Illicit Not Applicable 76-57-3 5284371
5
Ethanol Approved Not Applicable 64-17-5 702
6
Ibuprofen Approved Not Applicable 15687-27-1 3672
7 Analgesics Not Applicable
8 Anesthetics Not Applicable
9 Anti-Bacterial Agents Not Applicable
10 Antibiotics, Antitubercular Not Applicable
11 Narcotics Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Laryngomalacia Study Withdrawn NCT01782560 Phase 1 Omeprazole;Placebo
2 The Yield of Laryngeal Ultrasound in the Diagnosis of Laryngomalacia Unknown status NCT01991964 Not Applicable
3 Treatment of Exercise-induced Laryngomalacia in Elite Athletes Unknown status NCT00520624 Not Applicable
4 The Yield of Laryngeal Ultrasound in the Evaluation of Stridor and Dysphonia in Children Unknown status NCT02244697
5 Discovering Laryngomalacia Completed NCT01165489
6 Laryngomalacia No Longer An Ambiguity Completed NCT00972764
7 Laryngomalacia Exposed Completed NCT01042223
8 Brainstem Dysfunction Involvement in the Pathogenesis of Pierre Robin Sequence Recruiting NCT03423017 Not Applicable
9 Treatment of Children With Obstructive Sleep Apnea and Laryngomalacia: the Role of Laser Supraglottoplasty Active, not recruiting NCT00394550 Not Applicable
10 In Infants With Laryngomalacia, Does Acid-Blocking Medication Improve Respiratory Symptoms? Withdrawn NCT02700087 Not Applicable 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 Congenital Laryngeal Stridor 29
2 Laryngomalacia 29
Sources

Anatomical Context for Laryngomalacia

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MalaCards organs/tissues related to Laryngomalacia:

41
Lung, Trachea
Sources

Publications for Laryngomalacia

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Articles related to Laryngomalacia:

(show top 50) (show all 224)
# Title Authors Year
1
What parents are reading about laryngomalacia: Quality and readability of internet resources on laryngomalacia. ( 29605350 )
2018
2
Supraglottoplasty surgery types 1-3: A practical classification system for laryngomalacia surgery. ( 29958617 )
2018
3
Laryngomalacia presenting as severe uncontrolled asthma. ( 29619222 )
2018
4
Laryngeal ultrasound for the diagnosis of laryngomalacia in infants. ( 29405660 )
2018
5
Supraglottoplasty in children with laryngomalacia: A review and parents' appraisal. ( 29807660 )
2018
6
Cricopharyngeal achalasia associated with laryngomalacia as a cause of failure to thrive. ( 29909783 )
2018
7
Laryngomalacia in Patients With Craniosynostosis. ( 29923418 )
2018
8
Laryngomalacia, Tracheomalacia and Bronchomalacia. ( 29622320 )
2018
9
Hold your horses: A comparison of human laryngomalacia with analogous equine airway pathology. ( 29447808 )
2018
10
Predictors for routine admission to paediatric intensive care for post-supraglottoplasty laryngomalacia patients. ( 28511742 )
2017
11
Laryngomalacia: is there an evidence base for management? ( 29067893 )
2017
12
Pfeiffer syndrome with FGFR2 C342R mutation presenting extreme proptosis, craniosynostosis, hearing loss, ventriculomegaly, broad great toes and thumbs, maxillary hypoplasia, and laryngomalacia. ( 28600064 )
2017
13
Repetitive postoperative extubation failure and cardiac arrest due to laryngomalacia after general anesthesia in an elderly patient: a case report. ( 28508288 )
2017
14
Relative imbalance as etiology of laryngomalacia - A new theory. ( 28012601 )
2017
15
Supraglottoplasty for laryngomalacia: The experience from Concepcion, Chile. ( 29224749 )
2017
16
Utility of polysomnography in determination of laryngomalacia severity. ( 28109487 )
2017
17
Pepsin as a biomarker for laryngopharyngeal reflux in children with laryngomalacia. ( 28224634 )
2017
18
Management Outcome of Severe Laryngomalacia at Queen Sirikit National Institute Child Health. ( 29911790 )
2017
19
Laser supraglottoplasty for laryngomalacia; a 14A year experience of a tertiary referral center. ( 27522662 )
2016
20
A systematic review of the evidence on spontaneous resolution of laryngomalacia and its symptoms. ( 26968058 )
2016
21
Visualization of the Supraglottis in Laryngomalacia With 3-Dimensional Pediatric Endoscopy. ( 26823020 )
2016
22
Laryngomalacia. ( 27301595 )
2016
23
Accuracy of clinical swallowing evaluation for diagnosis of dysphagia in children with laryngomalacia or glossoptosis. ( 27228428 )
2016
24
In reference to supraglottoplasty for laryngomalacia with obstructive sleep apnea: A systematic review and meta-analysis. ( 26925823 )
2016
25
International Pediatric ORL Group (IPOG) laryngomalacia consensus recommendations. ( 27107728 )
2016
26
Congenital laryngomalacia is related to exercise-induced laryngeal obstruction in adolescence. ( 26906070 )
2016
27
Laryngomalacia with Epiglottic Prolapse Obscuring the Laryngeal Inlet. ( 27433749 )
2016
28
Types of laryngomalacia in children: interrelationship between clinical course and comorbid conditions. ( 27722899 )
2016
29
Laryngomalacia: Our Clinical Experience. ( 29392037 )
2016
30
Treatment outcome of supraglottoplasty vs. wait-and-see policy in patients with laryngomalacia. ( 26924742 )
2016
31
Supraglottoplasty for laryngomalacia with obstructive sleep apnea: A systematic review and meta-analysis. ( 26691675 )
2016
32
Recurrent croup and persistent laryngomalacia: Clinical resolution after supraglottoplasty. ( 27063760 )
2016
33
In response to supraglottoplasty for laryngomalacia with obstructive sleep apnea: A systematic review and meta-analysis. ( 26925548 )
2016
34
Topical Lidocaine Does Not Exaggerate Laryngomalacia in Infants During Flexible Bronchoscopy Under Propofol Anesthesia. ( 27261936 )
2016
35
Objective Outcomes of Supraglottoplasty for Children With Laryngomalacia and Obstructive Sleep Apnea: A Meta-analysis. ( 27259063 )
2016
36
Clinical relevance of quality of life in laryngomalacia. ( 26227303 )
2015
37
Laryngomalacia: Review and Summary of Current Clinical Practice in 2015. ( 25802018 )
2015
38
Catch-up growth in infants with laryngomalacia after supraglottoplasty. ( 26096747 )
2015
39
The groningen laryngomalacia classification system-based on systematic review and dynamic airway changes. ( 25825153 )
2015
40
Trends in Inpatient Pediatric Polysomnography for Laryngomalacia and Craniofacial Anomalies. ( 26215726 )
2015
41
Mandibular distraction for Robin sequence associated with laryngomalacia. ( 25915678 )
2015
42
Laryngomalacia and swallowing function in children. ( 26152504 )
2015
43
Surgical treatment of severe laryngomalacia: Sixa88month follow up. ( 25997357 )
2015
44
The incidence of postoperative aspiration among children undergoing supraglottoplasty for laryngomalacia. ( 26322450 )
2015
45
A case of acquired laryngomalacia in an infant, with endoscopy before and after establishing the diagnosis for the first time. ( 26628452 )
2015
46
Surgical treatment of a case of adult epiglottic laryngomalacia. ( 25614370 )
2015
47
Supraglottoplasty for sleep endoscopy diagnosed sleep dependent laryngomalacia. ( 25698459 )
2015
48
Type I Chiari malformation presenting with laryngomalacia and dysphagia. ( 26031456 )
2015
49
Management of laryngomalacia in children with congenital syndrome: The role of supraglottoplasty. ( 25840054 )
2015
50
Factors associated with the morphological type of laryngomalacia and prognostic value for surgical outcomes. ( 25188247 )
2014
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Variations for Laryngomalacia

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Copy number variations for Laryngomalacia from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 30297 1 241700000 247249719 Deletion laryngomalacia
2 51760 11 130300000 134452384 Duplication laryngomalacia
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Expression for Laryngomalacia

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Search GEO for disease gene expression data for Laryngomalacia.
Sources

Pathways for Laryngomalacia

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GO Terms for Laryngomalacia

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

# Name GO ID Score Top Affiliating Genes
1 DNA repair GO:0006281 8.62 EYA1 MTOR
Sources

Sources for Laryngomalacia

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 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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