Endocrinology · Endocrinology / Bone and mineral disorders
Barakat syndrome
also: HDR syndrome; hypoparathyroidism, deafness and renal dysplasia
Triad of hypoparathyroidism, sensorineural deafness and renal anomalies.
- Specialty
- Endocrinology
- Subspecialty
- Endocrinology / Bone and mineral disorders
- Sex & age distribution
- Male: affected; Female: affected equally; Children: yes
- Gene(s) involved
- GATA3
- Alternative names & eponyms
- HDR syndrome; hypoparathyroidism, deafness and renal dysplasia
Etiology & mechanism
GATA3 haploinsufficiency.
Gene(s) involved (1)
Symptoms & signs (6)
In plain terms, someone with Barakat syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
Drag nodes, scroll to zoom, click a node to open that syndrome.
Shares symptoms with
3 shared
Hungry bone syndrome
hypocalcemia, seizures, tetany
2 shared
Branchio-oto-renal syndrome
renal dysplasia, vesicoureteral reflux
2 shared
EAST syndrome
seizures, sensorineural deafness
2 shared
MELAS syndrome
seizures, sensorineural deafness
2 shared
Sanjad–Sakati syndrome
hypocalcemia, seizures
2 shared
Tumor lysis syndrome
hypocalcemia, seizures
1 shared
Action myoclonus–renal failure syndrome
seizures
1 shared
Alcohol withdrawal syndrome
seizures
1 shared
Amniotic fluid embolism syndrome
seizures
1 shared
Angelman syndrome
seizures
Shares genes with
None.
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