LC
MCID: CLF051
MIFTS: 27

Cleft Larynx, Posterior (LC)

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

Aliases & Classifications for Cleft Larynx, Posterior

MalaCards integrated aliases for Cleft Larynx, Posterior:

Name: Cleft Larynx, Posterior 57
Laryngo-Tracheo-Esophageal Cleft Type 3 58
Laryngotracheoesophageal Cleft Type 3 58
Laryngo-Tracheo-Esophageal Diastema 58
Laryngo-Tracheo-Esophageal Cleft 58
Laryngotracheoesophageal Cleft 58
Cleft, Larynx Posterior 6
Ltec Iii 58
Ltec3 58
Ltec 58
Lc 58

Characteristics:

Orphanet epidemiological data:

58
laryngotracheoesophageal cleft
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Antenatal,Neonatal; Age of death: any age;
laryngotracheoesophageal cleft type 3
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
? autosomal recessive


HPO:

31
cleft larynx, posterior:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare otorhinolaryngological diseases
Rare respiratory diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 215800
ICD10 via Orphanet 33 Q32.1
MedGen 41 C1859083

Summaries for Cleft Larynx, Posterior

MalaCards based summary : Cleft Larynx, Posterior, also known as laryngo-tracheo-esophageal cleft type 3, is related to laryngeal cleft and laryngotracheoesophageal cleft type 0. Affiliated tissues include trachea, lymph node and heart, and related phenotypes are abnormality of the voice and cyanosis

More information from OMIM: 215800

Related Diseases for Cleft Larynx, Posterior

Graphical network of the top 20 diseases related to Cleft Larynx, Posterior:



Diseases related to Cleft Larynx, Posterior

Symptoms & Phenotypes for Cleft Larynx, Posterior

Human phenotypes related to Cleft Larynx, Posterior:

58 31 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the voice 58 31 Frequent (79-30%) HP:0001608
2 cyanosis 58 31 Frequent (79-30%) HP:0000961
3 aspiration 58 31 Frequent (79-30%) HP:0002835
4 recurrent respiratory infections 58 Frequent (79-30%)
5 neonatal respiratory distress 58 Occasional (29-5%)
6 dyspnea 58 Frequent (79-30%)
7 laryngomalacia 58 Frequent (79-30%)
8 cough 58 Frequent (79-30%)
9 stridor 58 Frequent (79-30%)
10 hoarse cry 58 Frequent (79-30%)
11 laryngeal cleft 58 Obligate (100%)
12 choking episodes 58 Frequent (79-30%)
13 impaired oropharyngeal swallow response 58 Frequent (79-30%)
14 laryngeal stridor 31 HP:0006511

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skin:
cyanosis

Voice:
abnormal

Pulmonary:
aspiration
laryngeal stridor
choking
cleft larynx
persistent esophagotrachea

Clinical features from OMIM®:

215800 (Updated 20-May-2021)

Drugs & Therapeutics for Cleft Larynx, Posterior

Search Clinical Trials , NIH Clinical Center for Cleft Larynx, Posterior

Genetic Tests for Cleft Larynx, Posterior

Anatomical Context for Cleft Larynx, Posterior

MalaCards organs/tissues related to Cleft Larynx, Posterior:

40
Trachea, Lymph Node, Heart

Publications for Cleft Larynx, Posterior

Articles related to Cleft Larynx, Posterior:

(show top 50) (show all 60)
# Title Authors PMID Year
1
Asymptomatic laryngeal malformations are common in patients with Pallister-Hall syndrome. 57
10982485 2000
2
Familial occurrence of congenital laryngeal clefts. 57
7717756 1995
3
Laryngeal cleft: report of eight patients and a review of the literature. 57
4003449 1985
4
The G syndrome of dysphagia, ocular hypertelorism and hypospadias. 57
7296939 1981
5
Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus and postaxial polydactyly--a new syndrome? Part I: clinical, causal, and pathogenetic considerations. 57
7211952 1980
6
Familial occurrence of congenital laryngeal clefts. 57
4705933 1973
7
Failure of separation of larynx and trachea from the esophagus: persistent esophagotrachea. 57
13787605 1961
8
Non-inflammatory laryngeal stridor in infants. 57
13149192 1954
9
Familial congenital stridor. 57
18149234 1949
10
Comorbidity and long-term clinical outcome of laryngotracheal clefts types III and IV: Systematic analysis of new cases. 61
33095514 2021
11
Current management of type III and IV laryngotracheoesophageal clefts: the case for a revised cleft classification. 61
33109943 2020
12
Current management of type III and IV laryngotracheoesophageal clefts: the case for a revised cleft classification. 61
33148962 2020
13
Purification of Lumbricus terrestris Mega-Hemoglobin for Diverse Oxygen Therapeutic Applications. 61
33313397 2020
14
Purification of Lumbricus terrestris erythrocruorin (LtEc) with anion exchange chromatography. 61
32505113 2020
15
Should the clinical significance of supraclavicular and celiac lymph node metastasis in thoracic esophageal cancer be reevaluated? 61
31293066 2019
16
Repair of type IV laryngotracheoesophageal cleft (LTEC) on ECMO. 61
30783751 2019
17
Diagnosis and Management of Laryngotracheoesophageal Cleft. 61
29571545 2018
18
Glutaraldehyde cross-linking increases the stability of Lumbricus terrestris erythrocruorin. 61
29226612 2018
19
Prolonging the shelf life of Lumbricus terrestris erythrocruorin for use as a novel blood substitute. 61
28278582 2018
20
Laryngotracheoesophageal Cleft Type 3 and Severe Laryngotracheomalacia; Delayed Surgical Repair, a Treatment Challenge with an Excellent Outcome. 61
29201636 2018
21
Increasing the stability of Lumbricus terrestris erythrocruorin via poly(acrylic acid) conjugation. 61
29916733 2018
22
Type IV Laryngotracheoesophageal Cleft Associated with Type III Esophageal Atresia in 1p36 Deletions Containing the RERE Gene: Is There a Causal Role for the Genetic Alteration? 61
30245899 2018
23
Direct comparison of oligochaete erythrocruorins as potential blood substitutes. 61
29313031 2017
24
Our experience in two cases of type IV laryngotracheoesophageal cleft (LTEC) with a diagnosis of antenatal esophageal atresia. 61
28451032 2017
25
Polyethylene Glycol Camouflaged Earthworm Hemoglobin. 61
28099525 2017
26
Purification of diverse hemoglobins by metal salt precipitation. 61
26363116 2016
27
Extracellular matrix for repair of type IV laryngotracheo-esophageal cleft. 61
26616544 2015
28
Endoscopic repair of laryngotracheoesophageal clefts. 61
26392060 2015
29
Decreasing mechanical ventilator support in medically fragile children with bronchopulmonary dysplasia: A step-by-step weaning protocol at a pediatric long term extended care facility. 61
26409868 2015
30
Unexpected presentation of a type IV laryngo-tracheo-oesophageal cleft: Anaesthetic implications of a rare case. 61
25624542 2014
31
Type IV laryngotracheoesophageal cleft repair by a new combination of lateral thoraco-cervical and laryngoscopic approaches. 61
25092487 2014
32
Endoscopic repair of laryngotracheoesophageal clefts: experience in 17 cases. 61
24332198 2014
33
Anesthetic challenges in managing a case of type III laryngo-tracheo-esophageal cleft. 61
23225937 2012
34
Oxygen delivery during extreme anemia with ultra-pure earthworm hemoglobin. 61
22982347 2012
35
Hypervolemic infusion of Lumbricus terrestris erythrocruorin purified by tangential-flow filtration. 61
22304397 2012
36
Biophysical Properties of Lumbricus terrestris Erythrocruorin and Its Potential Use as a Red Blood Cell Substitute. 61
24956515 2012
37
Type IV laryngotracheoesophageal cleft: report of long-term survivor successfully decannulated. 61
21752479 2011
38
Ephrin-B reverse signaling controls septation events at the embryonic midline through separate tyrosine phosphorylation-independent signaling avenues. 61
21539827 2011
39
Deterioration of executive functioning in chronic ecstasy users; evidence for multiple drugs effects. 61
21054259 2010
40
Surgical management of type III and IV laryngotracheoesophageal clefts: the three-layered approach. 61
20416955 2010
41
Investigation of chemical bond characteristics, thermal expansion coefficients and bulk moduli of alpha-R2MoO6 and R2Mo2O7 (R = rare earths) by using a dielectric chemical bond method. 61
19115283 2009
42
Bonding characteristics, thermal expansibility, and compressibility of RXO(4) (R = rare earths, X = P, As) within monazite and zircon structures. 61
19323526 2009
43
Successful reconstruction of communicating bronchopulmonary foregut malformation associated with laryngotracheoesophageal cleft. 61
19433157 2009
44
[Enzymatic (plasmin) blood system in patients with acute virus myocarditis and its medical correction]. 61
19253736 2008
45
[Anterior approach for the surgical treatment of a laryngotracheoesophageal cleft]. 61
17650725 2007
46
Endoscopic laryngotracheal cleft repair without tracheotomy or intubation. 61
16585871 2006
47
Management and long-term follow-up of patients with types III and IV laryngotracheoesophageal clefts. 61
15868578 2005
48
Evaluation of neonates with esophageal atresia using chest CT scan. 61
15517291 2004
49
Anterior approach bilateral musculomucosal flaps repair for laryngotracheoesophageal clefts. 61
14666451 2003
50
Successful repair of the esophagus in type-IV laryngo-tracheo-esophageal cleft using interposed jejunum. 61
12687396 2003

Variations for Cleft Larynx, Posterior

ClinVar genetic disease variations for Cleft Larynx, Posterior:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 overlap with 2 genes GRCh37/hg19 7q36.3(chr7:156333296-156556779) copy number gain Uncertain significance 523286 GRCh37: 7:156333296-156556779
GRCh38:
2 overlap with 3 genes GRCh37/hg19 7q36.3(chr7:156656444-156866708) copy number gain Uncertain significance 523287 GRCh37: 7:156656444-156866708
GRCh38:

Expression for Cleft Larynx, Posterior

Search GEO for disease gene expression data for Cleft Larynx, Posterior.

Pathways for Cleft Larynx, Posterior

GO Terms for Cleft Larynx, Posterior

Sources for Cleft Larynx, Posterior

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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