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MCID: LRY029
MIFTS: 49

Laryngomalacia

Categories: Fetal diseases, Oral diseases, Rare diseases, Respiratory diseases
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Aliases & Classifications for Laryngomalacia

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MalaCards integrated aliases for Laryngomalacia:

IMPROVED
Name: Laryngomalacia 57 11 19 75 14
Congenital Laryngomalacia 11 19 58 28 5 31 33
Congenital Laryngeal Stridor 19
Laryngomalacia Congenital 19
Floppy Epiglottis 33

Characteristics:


Inheritance:

Autosomal dominant 57

Age Of Onset:

Congenital Laryngomalacia: Infancy,Neonatal 58

Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases
Anatomical: Respiratory diseases Oral diseases
See all MalaCards categories (disease lists)
ICD10: 31 32
ICD11: 33
Orphanet: 58  
Rare otorhinolaryngological diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 11 DOID:0080833
OMIM® 57 150280
SNOMED-CT 68 253737007
ICD10 31 Q31.5
MESH via Orphanet 44 D055092
ICD10 via Orphanet 32 Q31.5
UMLS via Orphanet 72 C0345160
Orphanet 58 ORPHA2373
MedGen 40 C0264303
ICD11 33 64182721
UMLS 71 C0345160
Sources

Summaries for Laryngomalacia

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GARD: 19 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.

MalaCards based summary: Laryngomalacia, also known as congenital laryngomalacia, is related to acquired laryngomalacia and tracheomalacia. An important gene associated with Laryngomalacia is WFS1 (Wolframin ER Transmembrane Glycoprotein). The drugs Famotidine and Histamine have been mentioned in the context of this disorder. Affiliated tissues include tongue, heart and tonsil, and related phenotypes are laryngomalacia and abnormality of the voice

Orphanet: 58 A rare larynx anomaly characterized by an inward collapse of supraglottic airway during inspiration, which manifests with an inspiratory stridor and might be associated with feeding difficulties, swallowing dysfunction, failure to thrive, and respiratory distress.

Disease Ontology: 11 A laryngeal disease that is characterized by inward collapse of flaccid supraglottic structures during inspiration. The most common symptom is noisy breathing (stridor) that is often worse when the infant is on his/her back or crying.

Wikipedia: 75 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 in the Laryngomalacia family:

Acquired Laryngomalacia

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

(show top 50) (show all 275)
# Related Disease Score Top Affiliating Genes
1 acquired laryngomalacia 32.2 ATP4A ATP12A
2 tracheomalacia 30.8 ATP4A ATP12A
3 laryngitis 30.3 ATP4A ATP12A
4 acute laryngitis 30.0 ATP4A ATP12A
5 esophageal atresia 29.8 CHD7 ATP4A ATP12A
6 chromosome 22q11.2 deletion syndrome, distal 29.7 MECP2 LL22NC03-63E9.3 CHD7
7 strabismus 29.7 PHOX2B NFIX MECP2 CHN1 CHD7
8 laryngeal abductor paralysis-intellectual disability syndrome 11.2
9 alopecia universalis congenita, xy gonadal dysgenesis, and laryngomalacia 11.0
10 buratti-harel syndrome 11.0
11 congenital laryngeal cyst 11.0
12 mixed sclerosing bone dystrophy with extra-skeletal manifestations 11.0
13 apnea, obstructive sleep 10.6
14 gastroesophageal reflux 10.5
15 sleep apnea 10.4
16 duane retraction syndrome 1 10.4 WFS1 CHN1
17 larynx anomaly 10.3
18 deafness, autosomal dominant 4a 10.3 WFS1 CHD7
19 pancreatic vasoactive intestinal peptide producing tumor 10.3 ATP4A ATP12A
20 scalp dermatosis 10.3 ATP4A ATP12A
21 acquired gastric outlet stenosis 10.3 ATP4A ATP12A
22 lingual goiter 10.3 ATP4A ATP12A
23 esophageal diverticulosis 10.3 ATP4A ATP12A
24 displacement of cardia through esophageal hiatus 10.3 ATP4A ATP12A
25 wiedemann-steiner syndrome 10.3 CHD7 ARID1B
26 cornelia de lange syndrome 5 10.3 NFIX KAT6B
27 benign shuddering attacks 10.3 ATP4A ATP12A
28 persistent moderate asthma 10.3 ATP4A ATP12A
29 rare genetic intellectual disability 10.3 MTOR ARID1B
30 viral esophagitis 10.3 ATP4A ATP12A
31 cervix erosion 10.3 ATP4A ATP12A
32 bacterial esophagitis 10.3 ATP4A ATP12A
33 chronic duodenal ileus 10.3 ATP4A ATP12A
34 duane retraction syndrome 10.3 WFS1 CHN1 CHD7
35 angiodysplasia of intestine 10.3 ATP4A ATP12A
36 angiodysplasia 10.3 ATP4A ATP12A
37 benzylpenicillin allergy 10.3 ATP4A ATP12A
38 penicillin allergy 10.3 ATP4A ATP12A
39 granulomatous gastritis 10.3 ATP4A ATP12A
40 fungal gastritis 10.3 ATP4A ATP12A
41 fungal esophagitis 10.3 ATP4A ATP12A
42 esophagus melanoma 10.3 ATP4A ATP12A
43 emphysematous cholecystitis 10.3 ATP4A ATP12A
44 afferent loop syndrome 10.3 ATP4A ATP12A
45 laryngeal tuberculosis 10.3 ATP4A ATP12A
46 gastrojejunal ulcer 10.3 ATP4A ATP12A
47 cefuroxime allergy 10.3 ATP4A ATP12A
48 median arcuate ligament syndrome 10.3 ATP4A ATP12A
49 bacterial gastritis 10.3 ATP4A ATP12A
50 pneumatosis cystoides intestinalis 10.3 ATP4A ATP12A

Graphical network of the top 20 diseases related to Laryngomalacia:



Diseases related to Laryngomalacia
Sources

Symptoms & Phenotypes for Laryngomalacia

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Human phenotypes related to Laryngomalacia:

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Resp:
laryngomalacia
respiratory distress
congenital stridor

Lab:
tracheal cartilage hypercellularity and tinctorial peculiarities of the matrix

Clinical features from OMIM®:

150280 (Updated 24-Oct-2022)

MGI Mouse Phenotypes related to Laryngomalacia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10 ARID1B CHD7 CHN1 IQSEC2 KAT6B MECP2
2 growth/size/body region MP:0005378 10 ARID1B ATP12A ATP4A CHD7 CHN1 IQSEC2
3 behavior/neurological MP:0005386 9.73 ARID1B ATP12A CHD7 CHN1 IQSEC2 MECP2
4 mortality/aging MP:0010768 9.47 ARID1B ATP4A CHD7 CHN1 IQSEC2 KAT6B
Sources

Drugs & Therapeutics for Laryngomalacia

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

(show all 18)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Famotidine Approved Phase 1, Phase 2 76824-35-6 3325 5702160
2
Histamine Approved, Investigational Phase 1, Phase 2 51-45-6 774
3 Gastrointestinal Agents Phase 1, Phase 2
4 Anti-Ulcer Agents Phase 1, Phase 2
5
Histamine phosphate Phase 1, Phase 2 51-74-1 134614
6 Histamine H2 Antagonists Phase 1, Phase 2
7 Histamine Antagonists Phase 1, Phase 2
8 Antacids Phase 1, Phase 2
9 Neurotransmitter Agents Phase 1, Phase 2
10
Acetaminophen Approved 103-90-2 1983
11
Ethanol Approved 64-17-5 702
12
Codeine Approved, Illicit 76-57-3, 6854-40-6 5284371 5362471
13
Ibuprofen Approved 15687-27-1 3672
14 Narcotics
15 Anesthetics
16 Antibiotics, Antitubercular
17 Anti-Bacterial Agents
18 Analgesics

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Initiation of Acid Suppression Therapy Prospective Outcomes for Laryngomalacia Recruiting NCT04614974 Phase 1, Phase 2 Famotidine
2 Improving Care For Infants With Laryngomalacia: A Pilot Randomized Controlled Trial of Omeprazole Versus Placebo Withdrawn NCT01782560 Phase 1 Omeprazole;Placebo
3 The Yield of Laryngeal Ultrasound in the Diagnosis of Laryngomalacia Unknown status NCT01991964
4 Laryngomalacia No Longer An Ambiguity Completed NCT00972764
5 Discovering Laryngomalacia Completed NCT01165489
6 Laryngomalacia Exposed Completed NCT01042223
7 Feeding and Swallowing Problems in Infants With Laryngomalacia Recruiting NCT05337475
8 Treatment of Children With Obstructive Sleep Apnea and Laryngomalacia: the Role of Laser Supraglottoplasty Terminated NCT00394550
9 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
10 Treatment of Exercise-induced Laryngo Obstruction in Elite Athletes Withdrawn NCT00520624

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 Laryngomalacia 28
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Anatomical Context for Laryngomalacia

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Organs/tissues related to Laryngomalacia:

MalaCards : Tongue, Heart, Tonsil, Thyroid, Thymus, Brain, Breast
Sources

Publications for Laryngomalacia

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Articles related to Laryngomalacia:

(show top 50) (show all 846)
# Title Authors PMID Year
1
Autosomal dominant congenital laryngomalacia. 62 57
1554019 1992
2
Familial laryngomalacia: a case report. 62 57
1256207 1976
3
Whole-genome sequencing of patients with rare diseases in a national health system. 5
32581362 2020
4
Clinical presentation of paradoxical vocal fold motion or laryngeal dyskinesia in infants. 62
36084476 2022
5
Diagnosis of infantile subglottic hemangioma and the effect of oral propranolol. 62
35988523 2022
6
Systematic review of pediatric postcricoid cushion and postcricoid lesions. 62
36044795 2022
7
Quality of life in children with diseases causing central airway obstruction: Reliability and validity of the TAPQOL questionnaire. 62
36207999 2022
8
Association Between Neonates With Laryngomalacia and Neonatal Abstinence Syndrome. 62
34595938 2022
9
Noninvasive Respiratory Support as an Alternative to Tracheostomy in Severe Laryngomalacia. 62
34713900 2022
10
A novel sleep oximetry scoring tool for pediatric laryngomalacia. 62
35816969 2022
11
Transcervical Epiglottopexy for the Management of Type 3 Laryngomalacia. 62
33147060 2022
12
Videofluoroscopic Swallow Studies and Diagnostic Outcomes in Otherwise Healthy Infants With Dysphagia. 62
34553623 2022
13
Clinical Significance of Mast Cells in the Supraglottic Larynx of Children With Aerodigestive Disease. 62
34699295 2022
14
Use of Awake C-MAC Videolaryngoscope in Spontaneous Breathing for the Diagnosis and Intubation of a Patient With Upper Airway Obstruction due to Floppy Epiglottis. 62
36156255 2022
15
Updated clinical and glycomic features of mannosyl-oligosaccharide glucosidase deficiency: Two case reports. 62
36158009 2022
16
Poor correlation between airway fluoroscopy and rigid bronchoscopic evaluation in paediatric tracheomalacia. 62
35504226 2022
17
The "Hand as Foot" teaching method in laryngomalacia. 62
35922252 2022
18
Prevalence and Management of Laryngomalacia in Patients With Pierre Robin Sequence. 62
35668613 2022
19
Laryngeal pathologies in dysphonic children with Down Syndrome. 62
35405441 2022
20
Initiation of acid suppression therapy for laryngomalacia. 62
35483169 2022
21
The changing face of paediatric airway endoscopic surgery: An 8-year single surgeon review. 62
35334239 2022
22
Laryngeal surgery for congenital laryngomalacia: NSQIP-P analysis of complications. 62
35405494 2022
23
[Analysis of clinical characteristics and surgical efficiency of severe laryngomalacia in children]. 62
35511616 2022
24
Subglottic Hemangioma: Now You See it, Now You Don't. 62
35633017 2022
25
Stridor in the Infant Patient. 62
35337541 2022
26
[Perioperative management of cochlear implantation for CHARGE syndrome]. 62
35193342 2022
27
Endoscopic treatment of paediatric subglottic stenosis and cyst (with video). 62
34972003 2022
28
[Genetic and clinical analysis of KIF2A gene variant in a Chinese patient with complex cortical dysplasia and other brain malformations]. 62
35315043 2022
29
What are the Soft Tissue Risk Factors for Obstructive Sleep Apnea in Patients with Down's Syndrome? 62
35306875 2022
30
Oral appliance therapy for obstructive sleep apnea in multiple system atrophy with floppy epiglottis: a case series of three patients. 62
35352265 2022
31
Nocturnal pulse oximetry as a possible screening method for obstructive sleep apnea in infants with laryngomalacia. 62
35131546 2022
32
Childhood Respiratory Conditions: Stridor. 62
35143152 2022
33
Coblation supraglottoplasty: a ten-year experience in a tertiary referral hospital. 62
34654950 2022
34
Spectrum of upper airway pathology in children with Down syndrome in a single tertiary centre. 62
35107400 2022
35
[Clinical characteristics and outcomes of 111 neonates with upper airway obstruction admitted via transportation]. 62
35090223 2022
36
Clinical Study of Human Coronavirus NL63, OC43, 229E, HKU1 Infentions in Hospitalized Children from 2015 to 2020. 62
35321083 2022
37
Endoscopic coblation-assisted and partial arytenoidectomy for infants with idiopathic bilateral vocal cord paralysis. 62
35089194 2022
38
Synchronous airway lesions in children with severe, progressive and atypical laryngomalacia - Experience of a UK tertiary referral centre. 62
34838327 2022
39
[Analysis of OCRL gene variant in a Chinese pedigree affected with Lowe syndrome]. 62
34964968 2022
40
Acquired laryngomalacia as a cause of post-extubation respiratory failure in patient with postoperative seizure and central pontine myelinolysis after craniotomy. 62
36244788 2022
41
Characterization of cyclic alternating pattern in infants with laryngomalacia. 62
35273771 2022
42
Symptomatic Lingual Thyroglossal Duct Cyst in Children: A Laryngomalacia Phenotype. 62
35100842 2022
43
Anesthetic management of a child with Cornelia de Lange Syndrome undergoing open heart surgery: A case report. 62
35126872 2022
44
Mandibular Distraction Osteogenesis for Tongue-Based Airway Obstruction Without Micrognathia. 62
34176894 2022
45
Xia-Gibbs Syndrome 62
34902026 2021
46
High-flow nasal cannula application in an infant patient with laryngomalacia during general anesthesia: A case report. 62
34889265 2021
47
Pharyngomalacia diagnosed by laryngo-tracheo-bronchoscopy in the neonatal intensive care unit. 62
33788356 2021
48
Innovative surgical solutions for laryngeal stenoses in newborns and infants 62
34962487 2021
49
Changes in Breathing Patterns after Surgery in Severe Laryngomalacia. 62
34943316 2021
50
Clinical predictors of laryngotracheoesophageal clefts and tracheoesophageal fistulae in children with dysphagia. 62
34387933 2021
Sources

Variations for Laryngomalacia

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ClinVar genetic disease variations for Laryngomalacia:

IMPROVED
5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 WFS1 NM_006005.3(WFS1):c.1999C>T (p.Gln667Ter) SNV Pathogenic
 598973 rs771409809 GRCh37: 4:6303521-6303521
GRCh38: 4:6301794-6301794
2 NFIX NM_001365902.3(NFIX):c.440G>A (p.Gly147Glu) SNV Likely Pathogenic
 627622 rs1568269273 GRCh37: 19:13136247-13136247
GRCh38: 19:13025433-13025433
3 MECP2 NM_001110792.2(MECP2):c.148_152del (p.Glu50fs) DEL Likely Pathogenic
 813009 rs1603310867 GRCh37: X:153297919-153297923
GRCh38: X:154032468-154032472
4 CHN1 NM_001822.7(CHN1):c.667G>A (p.Ala223Thr) SNV Likely Pathogenic
 598971 rs1558939623 GRCh37: 2:175689207-175689207
GRCh38: 2:174824479-174824479
5 KIF1A NM_001244008.2(KIF1A):c.3052C>T (p.His1018Tyr) SNV Uncertain Significance
 598972 rs1356639316 GRCh37: 2:241686664-241686664
GRCh38: 2:240747247-240747247

Copy number variations for Laryngomalacia from CNVD:

6
# 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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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 establishment or maintenance of transmembrane electrochemical gradient GO:0010248 9.26 ATP4A ATP12A
2 olfactory behavior GO:0042048 8.92 WFS1 CHD7

Molecular functions related to Laryngomalacia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 P-type sodium:potassium-exchanging transporter activity GO:0005391 9.46 ATP4A ATP12A
2 P-type potassium transmembrane transporter activity GO:0008556 8.96 ATP4A ATP12A
3 P-type potassium:proton transporter activity GO:0008900 8.92 ATP4A ATP12A
Sources

Sources for Laryngomalacia

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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
34 ICD9CM
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
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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