barakat syndrome | Barakat Syndrome - Symptoms, Causes, Treatment

Keyword	CPC	PCC	Volume	Score	Length of keyword
barakat syndrome	1.47	0.1	4971	83	16
barakat	1.87	0.3	6773	84	7
syndrome	1.85	0.1	5748	49	8

Keyword	CPC	PCC	Volume	Score
barakat syndrome	1.85	0.6	5799	46
barakat syndrome icd 10	0.12	0.3	421	57
barakat syndrome symptoms	1.14	0.1	8909	7
barakat syndrome life expectancy	0.73	0.8	1073	44
what is barakat syndrome	0.65	0.9	5424	66
maternal barakat syndrome hearing loss	0.68	0.7	7772	68
barrett syndrome icd 10	1.71	0.8	3147	26
icd 10 bartter syndrome	0.32	0.8	5423	35
icd 10 bilat bka	1.47	0.2	3360	35
icd 10 code for bartter syndrome	0.35	0.5	2681	93
icd 10 code for barrett's syndrome	1.25	0.2	7141	93
barrett icd 10 code	1.79	0.7	2644	45
icd 10 barretts unspecified	1.5	0.5	5414	25
eagle barrett syndrome icd 10	0.4	0.7	7109	41
icd 10 for barrett's	1.88	0.9	6946	90
icd 10 katarak ods	1.65	0.4	8096	22
icd 10 code for rt bka	0.56	0.5	2242	93
icd 10 code r bka	1.1	0.2	4686	49
icd 10 code katarakt	0.44	0.1	2174	67
terlambat bicara icd 10	1.02	0.5	4416	8

Search Results related to barakat syndrome on Search Engine

Barakat Syndrome - Symptoms, Causes, Treatment | NORD
rarediseases.org

https://rarediseases.org/rare-diseases/barakat-syndrome/

WebMay 11, 2023 · Disease Overview. First described by Barakat, et al in 1977, the Barakat syndrome, also known as HDR syndrome is a clinically variable (heterogeneous), rare genetic disorder characterized by the triad of hypoparathyroidism (decreased function of the parathyroid glands which are small endocrine glands in the neck …

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Barakat syndrome - Wikipedia
wikipedia.org

https://en.wikipedia.org/wiki/Barakat_syndrome

WebBarakat syndrome is a rare disease characterized by hypoparathyroidism, sensorineural deafness and renal disease, and hence also known as HDR syndrome. It is an autosomal dominant condition with incomplete penetrance and variable expressivity that was first described by Amin J. Barakat et al. in 1977.

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GARD Rare Disease Information - Barakat syndrome - National
rarediseases.org

https://rarediseases.org/gard-rare-disease/barakat-syndrome/

WebDisease Overview. Barakat syndrome, also known as HDR syndrome, is a rare, genetic syndrome characterized by h ypoparathyroidism, s ensorineural deafness, and r enal (kidney) disease. However, specific symptoms and severity can vary. About 65% of people with Barakat syndrome have all three of these features, while the others have various ...

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Hypoparathyroidism-sensorineural deafness-renal disease syndrome
nih.gov

https://rarediseases.info.nih.gov/diseases/2911/hypoparathyroidism-sensorineural-deafness-renal-disease-syndrome/

WebHypoparathyroidism-sensorineural deafness-renal disease syndrome (HDR syndrome), also known as Barakat syndrome, is a rare, genetic syndrome characterized by hypoparathyroidism, sensorineural deafness, and renal (kidney) disease. However, specific symptoms and severity can vary.

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What is Barakat Syndrome? - News-Medical.net
news-medical.net

https://www.news-medical.net/health/What-is-Barakat-Syndrome.aspx

WebDec 1, 2021 · The Barakat syndrome, also known as HDR syndrome, is a clinically variable (heterogeneous) rare genetic condition first identified by Barakat et al. in 1977. This clinical entity has a...

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Barakat-Perenthaler syndrome - Wikipedia
wikipedia.org

https://en.wikipedia.org/wiki/Barakat-Perenthaler_syndrome

WebBarakat-Perenthaler syndrome [1] is an autosomal recessive disorder and is caused by a recurrent homozygous mutation [5] of the UDP-glucose pyrophosphorylase ( UGP2) gene. [6] [7] UGP2 encodes an essential protein in nucleotide sugar metabolism, which catabolizes the conversion of glucose-1-phosphate to UDP-glucose.

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Barakat syndrome - Rare Endocrinology News
rareendocrinologynews.com

https://rareendocrinologynews.com/rarediseases/barakat-syndrome/

WebBarakat syndrome, also known as HDR syndrome, is a rare, genetic syndrome characterized by hypoparathyroidism, sensorineural deafness, and renal (kidney) disease. However, specific symptoms and severity can vary.

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Barakat syndrome revisited - Barakat - 2018 - American Journal of
wiley.com

https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.38693

WebApr 16, 2018 · Barakat syndrome also known as HDR syndrome (Online Mendelian Inheritance in Man [OMIM] 146255), was first described by Barakat et al. in 1977. It is a rare genetic disorder characterized by the triad of hypoparathyroidism “H,” sensorineural deafness “D,” and renal disease “R.”.

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HDR SYNDROME (BARAKAT SYNDROME) INFORMATION
chromodisorder.org

https://chromodisorder.org/wp-content/uploads/2020/05/New_HDR.pdf

WebHDR Syndrome. The association of sensori-neural deafness, hypoparathyroidism and renal abnormalities has been known for 50 years, but the etiology of this complex became clear only recently. HDR is an abbreviation based on the first letters of the main symptoms: H (Hypoparathyroidism), D (deafness) and R (renal abnormalities).

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Hypoparathyroidism, Sensorineural deafness and renal disease (Barakat
biomedcentral.com

https://bmcendocrdisord.biomedcentral.com/articles/10.1186/s12902-019-0438-4

WebOct 28, 2019 · Barakat syndrome is an autosomal dominant rare genetic disease caused by haploinsufficiency of the GATA binding protein 3 ( GATA3) gene. It is also known as HDR syndrome, and is characterized by varying degrees of hypoparathyroidism, sensorineural deafness and renal disease.

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