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Hypoparathyroidism - deafness - renal disease
1 OMIM reference -
1 associated gene
21 connected diseases
21 signs/symptoms
Disease Type of connection
Precursor B-cell acute lymphoblastic leukemia
Precursor T-cell acute lymphoblastic leukemia
Congenital diaphragmatic hernia
Tetralogy of Fallot
2q37 microdeletion syndrome
Acute basophilic leukemia
Atelosteogenesis type I
Atelosteogenesis type III
Autosomal dominant Larsen syndrome
Boomerang dysplasia
Dedifferentiated liposarcoma
Familial pancreatic carcinoma
Familial prostate cancer
Hereditary breast and ovarian cancer syndrome
Hereditary breast cancer
Hereditary site-specific ovarian cancer syndrome
Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
Matthew-Wood syndrome
Primary peritoneal carcinoma
Spondylocarpotarsal synostosis
Well-differentiated liposarcoma
Synonym(s):
- Barakat syndrome
- HDR syndrome
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare otorhinolaryngologic disease
- Rare renal disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
GATA3 P23771131320
Very frequent
- Autosomal dominant inheritance
- Hypocalcemia
- Hypoparathyroidy
- Sensorineural deafness / hearing loss

Frequent
- Agenesis / hypoplasia / aplasia of kidneys
- Contractures / cramps / trismus / tetania / claudication / opisthotonos
- Humour troubles / anxiety / depression / apathy / euphoria / irritability
- Seizures / epilepsy / absences / spasms / status epilepticus

Occasional
- Ectopic / horseshoe / fused kidneys
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Gastric / pyloric stenosis
- Hematuria / microhematuria
- Multicystic kidney / renal dysplasia
- Nystagmus
- Proteinuria
- Psoriasis
- Ptosis
- Renal failure
- Retinitis pigmentosa / retinal pigmentary changes
- Ventricular septal defect / interventricular communication
- Vesicorenal / vesicoureteral reflux