Diaphragm disorder

Summary

Diaphragm disorder (MONDO:0005728) is a disease (an umbrella term covering 5 Mondo subtypes) with 4 GWAS associations across 5 studies and 17 clinical trials. A subtype of respiratory system disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Umbrella term: 5 Mondo subtypes
• GWAS associations: 4
• Clinical trials: 17

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	diaphragm disorder
Mondo ID	MONDO:0005728
EFO	EFO:0007233
DOID	DOID:10481
SNOMED CT	48475001
UMLS	C0152097
MedGen	508886
GARD	0024224
Anatomy (UBERON)	UBERON:0001103
Is cancer (heuristic)	no

Also known as: diaphragm disease · diaphragm disease or disorder · disease of diaphragm · disease or disorder of diaphragm · disorder of diaphragm

Data availability: 4 GWAS associations (5 studies).

Disease family

This is a subtype of respiratory system disorder. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by body system or component › respiratory system disorder › diaphragm disorder

Related subtypes (58): lower respiratory tract disorder, respiratory system cancer, respiratory system benign neoplasm, allergic respiratory disease, paranasal sinus disorder, upper respiratory tract disorder, pertussis, severe acute respiratory syndrome, sleep apnea syndrome, pulmonary tuberculosis, altitude sickness, perinatal asphyxia, pulmonary nodular lymphoid hyperplasia, tracheobronchopathia osteochondroplastica, Williams-Campbell syndrome, cystic fibrosis, growth delay-hydrocephaly-lung hypoplasia syndrome, laryngo-onycho-cutaneous syndrome, congenital pulmonary lymphangiectasia, familial primary pulmonary hypoplasia, Mounier-Kuhn syndrome, Young syndrome, lung agenesis-heart defect-thumb anomalies syndrome, sudden infant death-dysgenesis of the testes syndrome, alpha 1-antitrypsin deficiency, hereditary sclerosing poikiloderma with tendon and pulmonary involvement, autoimmune interstitial lung disease-arthritis syndrome, mucopolysaccharidosis-plus syndrome, congenital bronchobiliary fistula, bronchogenic cyst, primary ciliary dyskinesia, congenital pulmonary airway malformation, transient hyperammonemia of the newborn, congenital pulmonary sequestration, Siegler-Brewer-Carey syndrome, tracheal agenesis, 16q24.1 microdeletion syndrome, staphylococcal necrotizing pneumonia, pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis, plastic bronchitis, recurrent respiratory papillomatosis, IgG4-related mediastinitis, bronchopulmonary dysplasia, infantile apnea, diffuse alveolar hemorrhage, respiratory or thoracic malformation, pulmonary agenesis, eosinophilic granuloma, disorder of pharynx, respiratory tract neoplasm, pulmonary alveolar proteinosis with hypogammaglobulinemia, respiratory tract infectious disorder, Middle East respiratory syndrome, reactive airway disease, acinar dysplasia, pulmonary hypoplasia, isolated left bronchial isomerism, bronchiectasis and nasal polyposis

Subtypes (5): congenital diaphragmatic hernia, diaphragmatic eventration, diaphragmitis, respiratory paralysis, diaphragmatic malformation

Genetics & variants

GWAS landscape

4 GWAS associations across 5 studies. Top hits map to 3 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs184420123	2e-12	LINC01790 - RNU6-169P	T	2.52
rs116521069	1e-11	WNT5B	C	4.77
rs575815358	1e-11	MIR3171HG	A	2.6
rs992064069	4e-11	WNT3A	C	3.52

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90478204	Verma A	2024	1,683	446,887	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90478203	Verma A	2024	757	120,037	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90480272	Verma A	2024	757	120,037	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90482097	Verma A	2024	214	59,348	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90436252	Zhou W	2018	153	408,350	Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

Tier	Variants
Tier 1: coding	0
Tier 2: splice/UTR	0
Tier 3: regulatory	0
Tier 4: intronic/intergenic	4

MAF distribution

Bucket	Variants
common (>=0.05)	0
low_freq (0.01-0.05)	0
rare (<0.01)	4
unknown	0

Functional consequences

Consequence	Count
intron_variant	3
intergenic_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs184420123	2	195048854	T>C	0.002	intergenic_variant	LINC01790 - RNU6-169P	2e-12	Tier 4: intronic/intergenic
rs116521069	12	1534039	C>G,T	0	intron_variant	WNT5B	1e-11	Tier 4: intronic/intergenic
rs575815358	14	27789985	A>T	0.001	intron_variant	MIR3171HG	1e-11	Tier 4: intronic/intergenic
rs992064069	1	228037636	C>A,G,T	0	intron_variant	WNT3A	4e-11	Tier 4: intronic/intergenic

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 17.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	17

Top trials by phase / activity

NCT	Phase	Status	Title
NCT05875883	Not specified	ACTIVE_NOT_RECRUITING	Phrenic Identification in the ICU
NCT06684392	Not specified	RECRUITING	Assessment of the Effect of an Inspiratory Muscle Training Regimen on Decannulation Time in Tracheostomized Subjects
NCT02474797	Not specified	COMPLETED	Ultrasound Diaphragmatic Thickening to Monitor Its Dysfunction in Patients With Sepsis
NCT03126838	Not specified	UNKNOWN	Diaphragmatic Dysfunction and Cardiac Surgery; Perioperative Assessment and Effect on Outcome
NCT03266016	Not specified	COMPLETED	Real-time Effort Driven VENTilator Management
NCT03539640	Not specified	COMPLETED	Effect PEEP on Diaphragm
NCT03704129	Not specified	COMPLETED	Educational Programme in Diaphragm Ultrasonographic Assessment
NCT04098939	Not specified	COMPLETED	Replaceability of Fluoroscopy and Ultrasound in the Evaluation of Hemidiaphragm Excursion
NCT04444934	Not specified	COMPLETED	Intra-operative Visual Examination at IDS
NCT04716504	Not specified	COMPLETED	Surgical Anatomy of the Distal Portion of the Phrenic Nerve
NCT04735757	Not specified	UNKNOWN	Effects of COVID-19 Infection and Critical Illness on Diaphragm Tissue Characteristics and Movement, Visualized With MRI
NCT04828408	Not specified	COMPLETED	Diaphragm Functions in Bariatric Surgeries
NCT05019313	Not specified	UNKNOWN	Diaphragm Ultrasound Evaluation During Weaning From Mechanical Ventilation in the Positive COVID-19 Patient
NCT05467332	Not specified	UNKNOWN	Tracheal Positive Pressure During High Flow Nasal Oxygen Administration in Critically Ill Patients: a Physiologic Study.
NCT05670327	Not specified	COMPLETED	Diaphragmatic Ultrasound and Weaning After Lung Transplant.
NCT05682027	Not specified	COMPLETED	Ultrasound as Diagnostic Tool in Diaphragm Dysfunction
NCT05869045	Not specified	UNKNOWN	POCUS and Respiratory Failure Prognosis Based on Diaphragmatic Dysfunction