ORPHA:2140
Congenital diaphragmatic hernia
Synonyms: CDH
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Multigenic/multifactorial, Not applicable
- Age of onset
- Neonatal
- Status
- active
A rare developmental defect during embryogenesis which can be a non-syndromic (70%) or syndromic (30%) diaphragmatic malformation characterized by a posterolateral defect of the diaphragm that allows passage of abdominal viscera into the thorax, leading to respiratory insufficiency and persistent pulmonary hypertension.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital diaphragmatic hernia | CDH |
| fr | Hernie de coupole diaphragmatique | HCD · Hernie diaphragmatique congénitale |
| de | Zwerchfellhernie, kongenitale | = en |
| es | Hernia diafragmática congénita | = en |
| it | Ernia diaframmatica congenita | Agenesia diaframmatica · CDH |
| nl | Congenitale hernia diaphragmatica | CHD · Congenitale middenrifbreuk |
| pt | Hérnia diafragmática congénita | Agenesia diafragmática |
| pl | Wrodzona przepuklina przeponowa | Agenezja przepony · CDH |
| cs | Vrozená brániční kýla | = en |
| uk | Вроджена діафрагмальна грижа | = en |
| zh | 先天性膈疝 | = en |
| tr | Doğumsal diyafragma fıtığı | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 142340 | E | validated | |
| OMIM | 222400 | BTNT | validated | |
| OMIM | 306950 | BTNT | validated | |
| OMIM | 610187 | BTNT | validated | |
| ICD-10 | Q79.0 | E | specific | validated |
| ICD-11 | LB00.0 | E | specific | validated |
| MONDO | 0005711 | E | validated | |
| MeSH | D065630 | E | validated | |
| UMLS | C0235833 | E | validated | |
| GARD | 1481 | E | validated | |
| MedDRA | 10010439 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:108977Non-syndromic diaphragmatic or abdominal wall malformation
rare developmental anomalies during embryogenesis; rare abdominal surgical diseases - ORPHA:180776Non-syndromic diaphragmatic or thoracic malformation
rare surgical thoracic diseases - ORPHA:101944Rare pulmonary disease
rare respiratory diseases
No children.
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Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GATA6 | Major susceptibility factor in | Assessed | HGNC:4174 | ENSG00000141448 | 601656 | 18q11.2 | GATA binding protein 6 | 24385578[PMID] |
| LONP1 | Major susceptibility factor in | Assessed | HGNC:9479 | ENSG00000196365 | 605490 | 19p13.2 | lon peptidase 1, mitochondrial | 34547244[PMID] |
| ZFPM2 | Major susceptibility factor in | Assessed | HGNC:16700 | ENSG00000169946 | 603693 | 8q23 | zinc finger protein, FOG family member 2 | 21525063[PMID] |
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Prevalence and incidence
22 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-5 / 10 000 | 30 / 100 000 | Worldwide | Value and class | Validated | 8982563[PMID]_[EXPERT]_ ORPHANET |
| Prevalence at birth | 1-5 / 10 000 | 21.2 / 100 000 | Europe | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 39.3 / 100 000 | Austria | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2009[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 14.6 / 100 000 | Belgium | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2011[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 11.4 / 100 000 | Croatia | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 19.8 / 100 000 | Denmark | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 23.6 / 100 000 | France | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2011[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 5.9 / 100 000 | Germany | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2011[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 23.2 / 100 000 | Hungary | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 21.7 / 100 000 | Ireland | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2011[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 22.6 / 100 000 | Italy | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2011[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 49.8 / 100 000 | Malta | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 29.2 / 100 000 | Netherlands | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2011[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 22.9 / 100 000 | Norway | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2011[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 8.2 / 100 000 | Poland | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 18.9 / 100 000 | Portugal | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 9.4 / 100 000 | Spain | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 38.9 / 100 000 | Switzerland | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 19.7 / 100 000 | United Kingdom | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2011[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 22.3 / 100 000 | Ukraine | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2011[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 33 / 100 000 | United States | Value and class | Validated | 1290156[PMID] |
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
8 annotations · validated 2016-06-12| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000776 | Congenital diaphragmatic hernia | |
| Frequent (79-30%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0010315 | Aplasia/Hypoplasia of the diaphragm | |
| HP:0012418 | Hypoxemia | |
| HP:0002566 | Intestinal malrotation | |
| HP:0000884 | Prominent sternum | |
| HP:0002089 | Pulmonary hypoplasia | |
| HP:0002098 | Respiratory distress | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 22214468[PMID]_1907381[PMID]_15937941[PMID]_7815446[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2140
- This record as JSON: /data/d/2140.json