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8p23.1 microdeletion syndrome
1 associated gene
30 connected diseases
37 signs/symptoms
Disease Type of connection
Tetralogy of Fallot
Atrial septal defect, ostium secundum type
Familial atrial fibrillation
Single ventricular septal defect
46,XY partial gonadal dysgenesis
Complete atrioventricular canal - Fallot tetralogy
Complete atrioventricular canal - left heart obstruction
Complete atrioventricular canal - ventricle hypoplasia
Partial atrioventricular canal
Athyreosis
Atrial septal defect - atrioventricular conduction defects
Familial isolated congenital asplenia
Familial progressive cardiac conduction defect
Hypoplastic left heart syndrome
Thyroid hypoplasia
Congenital diaphragmatic hernia
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
46,XX gonadal dysgenesis
46,XY complete gonadal dysgenesis
Holt-Oram syndrome
Distal 22q11.2 microdeletion syndrome
17q11 microdeletion syndrome
Frontonasal dysplasia with alopecia and genital anomaly
Isolated scaphocephaly
Kabuki syndrome
Parietal foramina
Potocki-Shaffer syndrome
Weaver syndrome
5q14.3 microdeletion syndrome
Berardinelli-Seip congenital lipodystrophy
Synonym(s):
- Del(8)(p23.1)
- Monosomy 8p23.1
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare urogenital disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: sporadic
External references:
No OMIM references
No MeSH references
Gene symbol UniProt reference OMIM reference
GATA4 P43694600576
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
- Diaphragmatic hernia / defect / agenesis
- 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