TLPD
MCID: THR032
MIFTS: 26

Thoracolaryngopelvic Dysplasia (TLPD)

Categories: Bone diseases, Fetal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Thoracolaryngopelvic Dysplasia

MalaCards integrated aliases for Thoracolaryngopelvic Dysplasia:

Name: Thoracolaryngopelvic Dysplasia 57 20 58 70
Barnes Syndrome 57 20 58
Tlpd 57 20
Autosomal Dominant Thoracolaryngopelvic Dysplasia 20

Characteristics:

Orphanet epidemiological data:

58
thoracolaryngopelvic dysplasia
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
thoracolaryngopelvic dysplasia:
Inheritance autosomal dominant inheritance


Classifications:

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


External Ids:

OMIM® 57 187760
MESH via Orphanet 45 C536517
ICD10 via Orphanet 33 Q77.2
UMLS via Orphanet 71 C1861197
Orphanet 58 ORPHA3317
MedGen 41 C1861197
UMLS 70 C1861197

Summaries for Thoracolaryngopelvic Dysplasia

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3317 Definition Thoracolaryngopelvic dysplasia is a short-rib dysplasia characterized by thoracic dystrophy, laryngeal stenosis and a small pelvis. Epidemiology Prevalence is unknown but less than 10 cases have been reported in the literature so far. Clinical description Patients present with severe respiratory distress (requiring intubation) during the neonatal period. The rib shortening is less severe than in Jeune syndrome (see this term) and the thorax is characteristically small, narrow and bell-shaped. The pelvis is reduced in all dimensions and the combination of the thorax anomalies and the small pelvis give the appearance of a protruding abdomen. Subglottic stenosis has also been described but it remains unclear whether this is a congenital anomaly or is secondary to long-term intubation. In addition, several cases of thoracopelvic dysostosis (without laryngeal involvement) have been described, which could represent heterogeneous expression of the same syndrome or a distinct entity. Genetic counseling Transmission is autosomal dominant.

MalaCards based summary : Thoracolaryngopelvic Dysplasia, also known as barnes syndrome, is related to thoracopelvic dysostosis and short-rib thoracic dysplasia 1 with or without polydactyly. Affiliated tissues include bone, eye and liver, and related phenotypes are scoliosis and slender build

More information from OMIM: 187760

Related Diseases for Thoracolaryngopelvic Dysplasia

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

# Related Disease Score Top Affiliating Genes
1 thoracopelvic dysostosis 10.2
2 short-rib thoracic dysplasia 1 with or without polydactyly 10.0
3 bronchomalacia 10.0
4 tracheomalacia 10.0
5 dysostosis 10.0
6 helicobacter pylori infection 10.0

Graphical network of the top 20 diseases related to Thoracolaryngopelvic Dysplasia:



Diseases related to Thoracolaryngopelvic Dysplasia

Symptoms & Phenotypes for Thoracolaryngopelvic Dysplasia

Human phenotypes related to Thoracolaryngopelvic Dysplasia:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 scoliosis 31 HP:0002650
2 slender build 31 HP:0001533
3 narrow pelvis bone 31 HP:0003275
4 laryngeal stenosis 31 HP:0001602
5 bell-shaped thorax 31 HP:0001591
6 short ribs 31 HP:0000773
7 hypoplastic iliac wing 31 HP:0002866
8 irregular vertebral endplates 31 HP:0003301
9 hypoplastic pelvis 31 HP:0008839
10 horizontal ribs 31 HP:0000888
11 metaphyseal widening 31 HP:0003016
12 prenatal maternal abnormality 31 HP:0002686
13 irregular chondrocostal junctions 31 HP:0006606

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skeletal Spine:
scoliosis
irregular endplates

Chest Ribs Sternum Clavicles And Scapulae:
irregular chondrocostal junctions
widened metaphyses
short, horizontal ribs

Skeletal Pelvis:
small iliac wings
narrow pelvis
flared iliac crest
shallow sacroiliac notch

Chest External Features:
small, rigid chest
bell-shaped chest

Respiratory Larynx:
laryngeal stenosis

Growth Height:
normal height

Growth Other:
asthenic habitus

Prenatal Manifestations Maternal:
small pelvis necessitates caesarean section

Clinical features from OMIM®:

187760 (Updated 05-Apr-2021)

Drugs & Therapeutics for Thoracolaryngopelvic Dysplasia

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Total Laparoscopic Pancreaticoduodenectomy Versus Open Pancreaticoduodenectomy for Pancreatic Carcinoma(TJDBPS07) a Multicenter Randomized Controlled Trial Not yet recruiting NCT03785743

Search NIH Clinical Center for Thoracolaryngopelvic Dysplasia

Genetic Tests for Thoracolaryngopelvic Dysplasia

Anatomical Context for Thoracolaryngopelvic Dysplasia

MalaCards organs/tissues related to Thoracolaryngopelvic Dysplasia:

40
Bone, Eye, Liver, Breast

Publications for Thoracolaryngopelvic Dysplasia

Articles related to Thoracolaryngopelvic Dysplasia:

(show top 50) (show all 74)
# Title Authors PMID Year
1
Autosomal dominant thoracolaryngopelvic dysplasia: Barnes syndrome. 57 61
3746836 1986
2
Thoracic-pelvic dysostosis: a 'new' autosomal dominant form. 57
6620328 1983
3
Chest reconstruction in thoracic dystrophy. 57
4942944 1971
4
Thoracic dystrophy. 57
5765978 1969
5
Feline low-grade intestinal T cell lymphoma: a unique natural model of human indolent T cell lymphoproliferative disorder of the gastrointestinal tract. 61
33692440 2021
6
Correlation between ocular perfusion pressure and translaminar pressure difference in glaucoma: Evidence for a three-pressure disease? 61
32985242 2020
7
Modeling a potential SANS countermeasure by experimental manipulation of the translaminar pressure difference in mice. 61
33574290 2020
8
Comparison of Perioperative and Oncological Outcomes of Hybrid and Totally Laparoscopic Pancreatoduodenectomy. 61
32335577 2020
9
Total laparoscopic pancreaticoduodenectomy versus open pancreaticoduodenectomy (TJDBPS01): study protocol for a multicentre, randomised controlled clinical trial. 61
32047015 2020
10
Modeling a potential SANS countermeasure by experimental manipulation of the translaminar pressure difference in mice. 61
32821777 2020
11
Is total laparoscopic pancreaticoduodenectomy superior to open procedure? A meta-analysis. 61
31602170 2019
12
Helicobacter pylori Uses the TlpB Receptor To Sense Sites of Gastric Injury. 61
31262979 2019
13
Helicobacter pylori senses bleach (HOCl) as a chemoattractant using a cytosolic chemoreceptor. 61
31465435 2019
14
Primary cutaneous CD4+ small/medium pleomorphic T-cell lymphoproliferative disorder: Where do we stand? A systematic review. 61
30506921 2019
15
Parturient With Barnes Syndrome (Thoracolaryngopelvic Dysplasia) Undergoing Cesarean Delivery of a Neonate With Barnes Syndrome: A Case Report. 61
29634523 2018
16
Selective Early Glial Reactivity in the Visual Pathway Precedes Axonal Loss, Following Short-Term Cerebrospinal Fluid Pressure Reduction. 61
30025070 2018
17
Descending genicular artery injury following transient lateral patellar dislocation. 61
29928103 2018
18
[Clinicopathologic features of primary mucosal CD30-positive T-cell lymphoproliferative disorders in head and neck region]. 61
29886583 2018
19
Laparoscopic pancreaticoduodenectomy in Brisbane, Australia: an initial experience. 61
29024280 2018
20
Chemotaxis Allows Bacteria To Overcome Host-Generated Reactive Oxygen Species That Constrain Gland Colonization. 61
29507083 2018
21
Comparison of Totally 3-Dimensional Laparoscopic Pancreaticoduodenectomy and Open Pancreaticoduodenectomy. 61
29683967 2018
22
A comprehensive approach to assigning periodontal prognosis. 61
29247450 2018
23
Minimally Invasive Pancreaticoduodenectomy: What is the Best "Choice"? A Systematic Review and Network Meta-analysis of Non-randomized Comparative Studies. 61
28799046 2018
24
Laparoscopic pancreaticoduodenectomy: changing the management of ampullary neoplasms. 61
28779245 2018
25
Introduction of a prediction model to assigning periodontal prognosis based on survival time. 61
28871596 2018
26
Totally laparoscopic or robot-assisted pancreaticoduodenectomy versus open surgery for periampullary neoplasms: separate systematic reviews and meta-analyses. 61
28039645 2017
27
Effects of short-term mild hypercapnia during head-down tilt on intracranial pressure and ocular structures in healthy human subjects. 61
28611153 2017
28
Predictors of long-term outcomes in patients undergoing periodontal maintenance. 61
28419497 2017
29
Anterior lamina cribrosa surface position in idiopathic intracranial hypertension and glaucoma. 61
27198638 2017
30
Multiple Acid Sensors Control Helicobacter pylori Colonization of the Stomach. 61
28103315 2017
31
The difficulties encountered in conversion from classic pancreaticoduodenectomy to total laparoscopic pancreaticoduodenectomy. 61
27251830 2016
32
The Helicobacter pylori CZB Cytoplasmic Chemoreceptor TlpD Forms an Autonomous Polar Chemotaxis Signaling Complex That Mediates a Tactic Response to Oxidative Stress. 61
27002127 2016
33
Localisation and protein-protein interactions of the Helicobacter pylori taxis sensor TlpD and their connection to metabolic functions. 61
27045738 2016
34
Total Laparoscopic Pancreaticoduodenectomy Using a New Technique of Pancreaticojejunostomy with Two Transpancreatic Sutures with Buttresses. 61
26717322 2016
35
Metal-only Lewis pairs between group 10 metals and Tl(i) or Ag(i): insights into the electronic consequences of Z-type ligand binding. 61
29861954 2015
36
Predictors of tooth loss due to periodontal disease in patients following long-term periodontal maintenance. 61
26498672 2015
37
Total Laparoscopic Pancreaticoduodenectomy: A Single-Institutional Experience. 61
25893407 2015
38
Laparoscopic pancreatoduodenectomy does not completely mitigate increased perioperative risks in elderly patients. 61
26294338 2015
39
Getting Started with Minimally Invasive Pancreaticoduodenectomy: Is It Worth It? 61
26375771 2015
40
An adult case of systemic Epstein-Barr virus-positive T-cell lymphoproliferative disorder with severe hepatic dysfunction and megalosplenia. 61
26031871 2015
41
Facts and myths of cerebrospinal fluid pressure for the physiology of the eye. 61
25619727 2015
42
Influence of translaminar pressure dynamics on the position of the anterior lamina cribrosa surface. 61
25829411 2015
43
Outcome and costs of laparoscopic pancreaticoduodenectomy during the initial learning curve vs laparotomy. 61
25954105 2015
44
Pancreaticoduodenectomy with major vascular resection: a comparison of laparoscopic versus open approaches. 61
25274069 2015
45
Defining the learning curve for team-based laparoscopic pancreaticoduodenectomy. 61
24923222 2014
46
Total laparoscopic pancreaticoduodenectomy for pancreatic ductal adenocarcinoma: oncologic advantages over open approaches? 61
25203880 2014
47
The first total laparoscopic pancreatoduodenectomy in Poland. 61
25337173 2014
48
Systemic Epstein-Barr virus positive T-cell lymphoproliferative disease of childhood with hemophagocytic syndrome. 61
25400806 2014
49
Inhibition of hepatocellular carcinoma growth using immunoliposomes for co-delivery of adriamycin and ribonucleotide reductase M2 siRNA. 61
24060417 2013
50
Role of energy sensor TlpD of Helicobacter pylori in gerbil colonization and genome analyses after adaptation in the gerbil. 61
23836820 2013

Variations for Thoracolaryngopelvic Dysplasia

Expression for Thoracolaryngopelvic Dysplasia

Search GEO for disease gene expression data for Thoracolaryngopelvic Dysplasia.

Pathways for Thoracolaryngopelvic Dysplasia

GO Terms for Thoracolaryngopelvic Dysplasia

Sources for Thoracolaryngopelvic Dysplasia

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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