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1 OMIM reference -
1 associated gene
21 signs/symptoms
PROTEIN INTERACTIONS: 1
3 associated genes
4 signs/symptoms
Hypoparathyroidism - deafness - renal disease
Well-differentiated liposarcoma

GATA3 CDK4
HMGA2
MDM2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
GATA3
(0.63)
MDM2



Citations in the biomedical literature:


Hypoparathyroidism - deafness - renal disease
GATA3
Well-differentiated liposarcoma
CDK4 HMGA2 MDM2



Hypoparathyroidism - deafness - renal disease
Well-differentiated liposarcoma

Synonym(s):
- Barakat syndrome
- HDR syndrome

Synonym(s):
- ALT
- Atypical lipoma
- Atypical lipomatous tumor
- WDLS

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

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

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: adulthood
Average age of death: adult
Type of inheritance: sporadic

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

Hypoparathyroidism - deafness - renal disease
Well-differentiated liposarcoma

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


Very frequent
- Soft tissue sarcoma / cancer / tumor / liposarcoma / myosarcoma
- Subcutaneous nodules / lipomas / tumefaction / swelling

Occasional
- Functional anomalies of the kidney and the urinary tract
- Intestinal transit disorder