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6 OMIM references -
4 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
21 signs/symptoms
Hereditary breast cancer
Hypoparathyroidism - deafness - renal disease

BRCA1 GATA3
BRCA2
KLLN
XRCC2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
BRCA1
(0.63)
GATA3



Citations in the biomedical literature:


Hereditary breast cancer
BRCA1 BRCA2 KLLN XRCC2
Hypoparathyroidism - deafness - renal disease
GATA3



Hereditary breast cancer
Hypoparathyroidism - deafness - renal disease

Synonym(s):
- Familial breast cancer
- Familial breast carcinoma
- Hereditary breast carcinoma

Synonym(s):
- Barakat syndrome
- HDR syndrome

Classification (Orphanet):
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare oncologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare otorhinolaryngologic disease
- Rare renal disease

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

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant

External references:
6 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references

Hypoparathyroidism - deafness - renal disease

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


Hereditary breast cancer

(no data available)