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Congenital diaphragmatic hernia

4 OMIM references -
3 associated genes
1 sign/symptom

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

8p23.1 microdeletion syndrome

1 associated gene
37 signs/symptoms

Congenital diaphragmatic hernia

8p23.1 microdeletion syndrome

FREM1	(UniProt - OMIM)		GATA4	(UniProt - OMIM)
GATA6	(UniProt - OMIM)
ZFPM2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	ZFPM2	(0.9)	GATA4

Citations in the biomedical literature:

Congenital diaphragmatic hernia		8p23.1 microdeletion syndrome
	Synonym(s): - CDH - Diaphragmatic agenesia		Synonym(s): - Del(8)(p23.1) - Monosomy 8p23.1

	Classification (Orphanet): - Rare abdominal surgical disease - Rare developmental defect during embryogenesis - Rare respiratory disease - Rare surgical thoracic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare urogenital disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: multigenic/multifactorial		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: sporadic

	External references: 4 OMIM references - 1 MeSH reference: C538080		External references: No OMIM references No MeSH references


COMMON SIGNS	- Diaphragmatic hernia / defect / agenesis

Congenital diaphragmatic hernia		8p23.1 microdeletion syndrome
	(no more signs)		Very frequent - Autosomal dominant inheritance - Insterstitial / subtelomeric microdeletion / deletion - Intellectual deficit / mental / psychomotor retardation / learning disability - Intrauterine growth retardation Frequent - Atrioventricular canal - Broad nose / nasal bridge - Cardiac septal defect - Congenital cardiac anomaly / malformation / cardiopathy - Epicanthic folds - External ear anomalies - Failure to thrive / difficulties for feeding in infancy / growth delay - High forehead - High vaulted / narrow palate - Humour troubles / anxiety / depression / apathy / euphoria / irritability - Hyperactivity / attention deficit - Hypospadias / epispadias / bent penis - Microcephaly - Narrow forehead - Pulmonary artery stenosis / absence / hypoplasia of the pulmonary branches - Seizures / epilepsy / absences / spasms / status epilepticus - Short neck - Short stature / dwarfism / nanism - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Undescended / ectopic testes / cryptorchidia / unfixed testes - Weight loss / loss of appetite / break in weight curve / general health alteration Occasional - Broad / bifid big toe - Broad / bifid thumb - Cardiomyopathy / hypertrophic / dilated - Deepset eyes / enophthalmos - Generalized obesity - Hypoplastic aorta / coarctation / stenosis / anomaly / aortic arch interruption - Hypoplastic left heart / ventricle - Patent ductus arteriosus - Proximally set thumb - Tetralogy of Fallot / trilogy of Fallot - Transposition of great vessels