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MCID: LRY029
MIFTS: 43

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 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 Omeprazole and Antacids have been mentioned in the context of this disorder. Affiliated tissues include lung, trachea and bone, and related phenotypes are laryngomalacia and cleft palate

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 40)
# Related Disease Score Top Affiliating Genes
1 alopecia universalis congenita, xy gonadal dysgenesis, and laryngomalacia 12.2
2 fontaine progeroid syndrome 11.1
3 sleep apnea 10.4
4 tracheomalacia 10.1
5 gastroesophageal reflux 10.1
6 pectus excavatum 10.1
7 bronchomalacia 10.1
8 apnea, obstructive sleep 10.0
9 arthrogryposis, distal, type 2a 10.0
10 asthma 10.0
11 brittle bone disorder 10.0
12 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
13 cerebral palsy 10.0
14 craniosynostosis 10.0
15 croup 10.0
16 chiari malformation 10.0
17 dysphagia 10.0
18 pfeiffer syndrome 9.8
19 tetralogy of fallot 9.8
20 digeorge syndrome 9.8
21 alopecia universalis congenita 9.8
22 vici syndrome 9.8
23 choanal atresia, posterior 9.8
24 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 9.8
25 chitayat syndrome 9.8
26 alopecia 9.8
27 cardiac arrest 9.8
28 sensorineural hearing loss 9.8
29 microcephaly 9.8
30 gonadal dysgenesis 9.8
31 laryngitis 9.8
32 dystonia 9.8
33 achalasia 9.8
34 central sleep apnea 9.8
35 waardenburg's syndrome 9.8
36 hemangioendothelioma 9.8
37 kaposiform hemangioendothelioma 9.8
38 pulmonary sequestration 9.8
39 isolated pierre robin sequence 9.8
40 hypoxia 9.8

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
respiratory distress
congenital stridor

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 laryngomalacia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001601
2 cleft palate 59 32 frequent (33%) Frequent (79-30%) HP:0000175
3 non-midline cleft lip 59 32 frequent (33%) Frequent (79-30%) HP:0100335
4 abnormality of the voice 59 32 hallmark (90%) Very frequent (99-80%) HP:0001608
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 EYA1 MTOR POMGNT1
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 27)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Omeprazole Approved, Investigational, Vet_approved Phase 1 73590-58-6 4594
2 Antacids Phase 1,Not Applicable
3 Gastrointestinal Agents Phase 1,Not Applicable
4 Anti-Ulcer Agents Phase 1,Not Applicable
5 Proton Pump Inhibitors Phase 1,Not Applicable
6
Histamine Approved, Investigational Not Applicable 51-45-6, 75614-87-8 774
7
Ranitidine Approved Not Applicable 66357-35-5, 66357-59-3 3001055
8
Famotidine Approved Not Applicable 76824-35-6 3325
9
Codeine Approved, Illicit Not Applicable 76-57-3 5284371
10
Ethanol Approved Not Applicable 64-17-5 702
11
Ibuprofen Approved Not Applicable 15687-27-1 3672
12
Acetaminophen Approved Not Applicable 103-90-2 1983
13
Temazepam Approved, Investigational Not Applicable 846-50-4 5391
14
Citric Acid Approved, Nutraceutical, Vet_approved Not Applicable 77-92-9 311
15
Bismuth Not Applicable 7440-69-9 16682734 105143
16 Bismuth tripotassium dicitrate Not Applicable
17 Histamine Antagonists Not Applicable
18
Histamine Phosphate Not Applicable 51-74-1 65513
19 Ranitidine bismuth citrate Not Applicable
20 Citrate Not Applicable
21 Histamine H2 Antagonists Not Applicable
22 Neurotransmitter Agents Not Applicable
23 Anti-Bacterial Agents Not Applicable
24 Antibiotics, Antitubercular Not Applicable
25 Analgesics Not Applicable
26 Narcotics Not Applicable
27 Anesthetics 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 In Infants With Laryngomalacia, Does Acid-Blocking Medication Improve Respiratory Symptoms? Withdrawn NCT02700087 Not Applicable ranitidine or famotidine;Placebo
8 Treatment of Children With Obstructive Sleep Apnea and Laryngomalacia: the Role of Laser Supraglottoplasty Active, not recruiting NCT00394550 Not Applicable
9 Laryngomalacia Exposed Completed NCT01042223
10 Brainstem Dysfunction Involvement in the Pathogenesis of Pierre Robin Sequence Recruiting NCT03423017 Not Applicable

Search NIH Clinical Center for Laryngomalacia

Sources

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, Bone
Sources

Publications for Laryngomalacia

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Articles related to Laryngomalacia:

(show top 50) (show all 245)
# Title Authors Year
1
Neurologically acquired laryngomalacia in a pediatric patient with Moyamoya: A case report and literature review. ( 30554704 )
2019
2
What parents are reading about laryngomalacia: Quality and readability of internet resources on laryngomalacia. ( 29605350 )
2018
3
Supraglottoplasty surgery types 1-3: A practical classification system for laryngomalacia surgery. ( 29958617 )
2018
4
Laryngomalacia presenting as severe uncontrolled asthma. ( 29619222 )
2018
5
Laryngeal ultrasound for the diagnosis of laryngomalacia in infants. ( 29405660 )
2018
6
Supraglottoplasty in children with laryngomalacia: A review and parents' appraisal. ( 29807660 )
2018
7
Cricopharyngeal achalasia associated with laryngomalacia as a cause of failure to thrive. ( 29909783 )
2018
8
Laryngomalacia in Patients With Craniosynostosis. ( 29923418 )
2018
9
Laryngomalacia, Tracheomalacia and Bronchomalacia. ( 29622320 )
2018
10
Hold your horses: A comparison of human laryngomalacia with analogous equine airway pathology. ( 29447808 )
2018
11
Anesthesia challenges for emergency surgery in a pediatric patient with congenital laryngomalacia. ( 30100863 )
2018
12
Does supraglottoplasty improve outcomes in children with laryngomalacia? ( 30329149 )
2018
13
Congenital Vertical Tracheal Septum Misdiagnosed as Laryngomalacia. ( 30407842 )
2018
14
Epiglottopexy by external puncture for epiglottic prolapse in severe laryngomalacia. A novel technique. ( 30528156 )
2018
15
Predictors for routine admission to paediatric intensive care for post-supraglottoplasty laryngomalacia patients. ( 28511742 )
2017
16
Laryngomalacia: is there an evidence base for management? ( 29067893 )
2017
17
Pfeiffer syndrome with FGFR2 C342R mutation presenting extreme proptosis, craniosynostosis, hearing loss, ventriculomegaly, broad great toes and thumbs, maxillary hypoplasia, and laryngomalacia. ( 28600064 )
2017
18
Repetitive postoperative extubation failure and cardiac arrest due to laryngomalacia after general anesthesia in an elderly patient: a case report. ( 28508288 )
2017
19
Relative imbalance as etiology of laryngomalacia - A new theory. ( 28012601 )
2017
20
Supraglottoplasty for laryngomalacia: The experience from Concepcion, Chile. ( 29224749 )
2017
21
Utility of polysomnography in determination of laryngomalacia severity. ( 28109487 )
2017
22
Pepsin as a biomarker for laryngopharyngeal reflux in children with laryngomalacia. ( 28224634 )
2017
23
Management Outcome of Severe Laryngomalacia at Queen Sirikit National Institute Child Health. ( 29911790 )
2017
24
Laser supraglottoplasty for laryngomalacia; a 14A year experience of a tertiary referral center. ( 27522662 )
2016
25
A systematic review of the evidence on spontaneous resolution of laryngomalacia and its symptoms. ( 26968058 )
2016
26
Visualization of the Supraglottis in Laryngomalacia With 3-Dimensional Pediatric Endoscopy. ( 26823020 )
2016
27
Laryngomalacia. ( 27301595 )
2016
28
Accuracy of clinical swallowing evaluation for diagnosis of dysphagia in children with laryngomalacia or glossoptosis. ( 27228428 )
2016
29
In reference to supraglottoplasty for laryngomalacia with obstructive sleep apnea: A systematic review and meta-analysis. ( 26925823 )
2016
30
International Pediatric ORL Group (IPOG) laryngomalacia consensus recommendations. ( 27107728 )
2016
31
Congenital laryngomalacia is related to exercise-induced laryngeal obstruction in adolescence. ( 26906070 )
2016
32
Laryngomalacia with Epiglottic Prolapse Obscuring the Laryngeal Inlet. ( 27433749 )
2016
33
Types of laryngomalacia in children: interrelationship between clinical course and comorbid conditions. ( 27722899 )
2016
34
Laryngomalacia: Our Clinical Experience. ( 29392037 )
2016
35
Treatment outcome of supraglottoplasty vs. wait-and-see policy in patients with laryngomalacia. ( 26924742 )
2016
36
Supraglottoplasty for laryngomalacia with obstructive sleep apnea: A systematic review and meta-analysis. ( 26691675 )
2016
37
Recurrent croup and persistent laryngomalacia: Clinical resolution after supraglottoplasty. ( 27063760 )
2016
38
In response to supraglottoplasty for laryngomalacia with obstructive sleep apnea: A systematic review and meta-analysis. ( 26925548 )
2016
39
Topical Lidocaine Does Not Exaggerate Laryngomalacia in Infants During Flexible Bronchoscopy Under Propofol Anesthesia. ( 27261936 )
2016
40
Objective Outcomes of Supraglottoplasty for Children With Laryngomalacia and Obstructive Sleep Apnea: A Meta-analysis. ( 27259063 )
2016
41
Clinical relevance of quality of life in laryngomalacia. ( 26227303 )
2015
42
Laryngomalacia: Review and Summary of Current Clinical Practice in 2015. ( 25802018 )
2015
43
Catch-up growth in infants with laryngomalacia after supraglottoplasty. ( 26096747 )
2015
44
The groningen laryngomalacia classification system-based on systematic review and dynamic airway changes. ( 25825153 )
2015
45
Trends in Inpatient Pediatric Polysomnography for Laryngomalacia and Craniofacial Anomalies. ( 26215726 )
2015
46
Mandibular distraction for Robin sequence associated with laryngomalacia. ( 25915678 )
2015
47
Laryngomalacia and swallowing function in children. ( 26152504 )
2015
48
Surgical treatment of severe laryngomalacia: Sixa88month follow up. ( 25997357 )
2015
49
The incidence of postoperative aspiration among children undergoing supraglottoplasty for laryngomalacia. ( 26322450 )
2015
50
A case of acquired laryngomalacia in an infant, with endoscopy before and after establishing the diagnosis for the first time. ( 26628452 )
2015
Sources

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
Sources

Expression for Laryngomalacia

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Search GEO for disease gene expression data for Laryngomalacia.
Sources

Pathways for Laryngomalacia

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Sources

GO Terms for Laryngomalacia

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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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