HDR
MCID: HYP257
MIFTS: 59

Hypoparathyroidism, Sensorineural Deafness, and Renal Disease (HDR)

Categories: Ear diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Hypoparathyroidism, Sensorineural Deafness, and Renal Disease

MalaCards integrated aliases for Hypoparathyroidism, Sensorineural Deafness, and Renal Disease:

Name: Hypoparathyroidism, Sensorineural Deafness, and Renal Disease 56 12 73
Barakat Syndrome 56 12 52 58 73 43 39 71
Hypoparathyroidism-Deafness-Renal Disease Syndrome 12 29 6 15
Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia 56 52 13
Nephrosis, Nerve Deafness, and Hypoparathyroidism 56 52 73
Hdr Syndrome 12 52 58
Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia Syndrome 56 73
Nephrosis 43 71
Hdr 56 73
Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia Syndrome; Hdrs 56
Hypoparathyroidism-Sensorineural Hearing Loss-Renal Disease Syndrome 58
Hypoparathyroidism with Sensorineural Deafness and Renal Dysplasia 36
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome 58
Nephrotic Syndrome 71
Hdrs 56

Characteristics:

Orphanet epidemiological data:

58
hypoparathyroidism-sensorineural deafness-renal disease syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
hypoparathyroidism, sensorineural deafness, and renal disease:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare renal diseases
Rare otorhinolaryngological diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


Summaries for Hypoparathyroidism, Sensorineural Deafness, and Renal Disease

NIH Rare Diseases : 52 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 combinations of these features. Some people with Barakat syndrome have one or more of these as well as additional features. Hypoparathyroidism leads to low levels of calcium in the blood (hypocalcemia ), which can cause symptoms such as muscle pain, muscle spasms, seizures , and rarely, cardiomyopathy . Hearing loss is the most consistent feature of Barakat syndrome. It is usually bilateral and can range from moderate to profound. The type of kidney disease present can vary from person to person. For example, some people with Barakat syndrome are born with structural kidney or urinary tract abnormalities (underdeveloped or abnormally-formed), while others may have functional abnormalities (such as nephrotic syndrome , hematuria , renal tubular acidosis , or chronic kidney disease ). Various additional features have been reported in some people with Barakat syndrome such as polycystic ovaries, distinctive facial features, ischemic stroke , retinitis pigmentosa , intellectual disability , growth failure, congenital heart disease, and other birth defects . Most cases of Barakat syndrome are caused by mutations in the GATA3 gene , or by a missing piece (deletion ) of genetic material on chromosome 10 that includes the GATA3 gene. Inheritance is autosomal dominant . In some cases, the genetic cause is unknown. Barakat syndrome can be clinically diagnosed (without genetic testing ) in a person with the complete triad of hypoparathyroidism, sensorineural deafness, and renal disease; or, in a person with two of these features who also has a positive family history . For those who have only deafness or renal disease, and for others who do not fit this criteria, genetic testing that identifies a GATA3 mutation is needed to confirm the diagnosis. Treatment for Barakat syndrome depends on the symptoms present and the severity in each person. Hypocalcemia may be treated with oral calcium and calcitriol , intravenous calcium gluconate, or parathyroid hormone injection . Hearing loss may be treated with hearing amplification and/or cochlear implantation . Treatment of kidney disease depends on the abnormality present. Some minor abnormalities may not need to be treated while others may require medications, surgery, or kidney transplantation . The long-term outlook (prognosis ) usually depends on the severity of kidney disease, and those with minor kidney problems have a normal life expectancy.

MalaCards based summary : Hypoparathyroidism, Sensorineural Deafness, and Renal Disease, also known as barakat syndrome, is related to lipoid nephrosis and nephrotic syndrome, type 1. An important gene associated with Hypoparathyroidism, Sensorineural Deafness, and Renal Disease is GATA3 (GATA Binding Protein 3), and among its related pathways/superpathways are Parathyroid hormone synthesis, secretion and action and Primary Focal Segmental Glomerulosclerosis FSGS. The drugs Entecavir and Bupropion have been mentioned in the context of this disorder. Affiliated tissues include kidney, heart and testes, and related phenotypes are hypoparathyroidism and renal dysplasia

Disease Ontology : 12 A chromosomal deletion syndrome that is characterized by autosomal dominant inheritance of hypoparathyroidism, sensorineural deafness and progressive renal failure and that has material basis in chromosome deletion that results in haploinsufficiency of the GATA3 gene on chromosome 10p14.

KEGG : 36 Hypoparathyroidism with sensorineural deafness and renal dysplasia (HDR syndrome) is a DiGeorge-like phenotype that includes hypoparathyroidism, heart defects, immune deficiency, deafness and renal malformations. It has been reported that mutations in GATA3 cause HDR syndrome.

UniProtKB/Swiss-Prot : 73 Hypoparathyroidism, sensorineural deafness, and renal disease: A disease characterized by steroid-resistant nephrosis with progressive renal failure, hypoparathyroidism, sensorineural deafness, and renal dysplasia.

More information from OMIM: 146255

Related Diseases for Hypoparathyroidism, Sensorineural Deafness, and Renal Disease

Diseases related to Hypoparathyroidism, Sensorineural Deafness, and Renal Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 458)
# Related Disease Score Top Affiliating Genes
1 lipoid nephrosis 34.1 NPHS2 NPHS1 ACTN4
2 nephrotic syndrome, type 1 33.2 NPHS2 NPHS1 ACTN4
3 galloway-mowat syndrome 1 33.1 NPHS2 NPHS1 ACTN4
4 familial nephrotic syndrome 32.8 NPHS2 NPHS1 ACTN4
5 galloway-mowat syndrome 32.7 NPHS2 NPHS1 LAMB2 ACTN4
6 pierson syndrome 32.6 NPHS2 NPHS1 LAMB2 ACTN4
7 glomerular disease 31.1 NPHS2 NPHS1
8 focal segmental glomerulosclerosis 30.8 NPHS2 NPHS1 LAMB2 ACTN4
9 diffuse mesangial sclerosis 30.5 NPHS2 NPHS1 LAMB2
10 nephrotic syndrome, type 2 30.4 NPHS2 NPHS1 ACTN4
11 end stage renal disease 30.2 PTH NPHS2 NPHS1 ACTN4
12 congenital syphilis 30.1 NPHS2 NPHS1
13 genetic steroid-resistant nephrotic syndrome 30.0 NPHS2 NPHS1 ACTN4
14 denys-drash syndrome 30.0 NPHS2 NPHS1 ACTN4
15 nail-patella syndrome 29.9 NPHS2 NPHS1 ACTN4
16 acute proliferative glomerulonephritis 29.8 NPHS2 NPHS1
17 nephrotic syndrome 29.8 NPHS2 NPHS1 LAMB2 ACTN4
18 hyperphosphatemia 29.6 PTH GCM2 CASR
19 digeorge syndrome 29.5 PTH GCM2 DGCR2 CASR
20 hypoparathyroidism 29.5 ZFPM2 PTH GCM2 GATA3 CASR
21 chronic kidney disease 28.9 PTH NPHS2 NPHS1 CASR ACTN4
22 kidney disease 28.9 PTH NPHS2 NPHS1 GATA3 CASR ACTN4
23 nephrosis with deafness and urinary tract and digital malformations 12.5
24 pulmonic stenosis and congenital nephrosis 12.2
25 ventriculomegaly with cystic kidney disease 12.1
26 daentl towsend siegel syndrome 12.0
27 congenital nephrotic syndrome finnish type 11.7
28 cervical cancer 10.6
29 prostate cancer 10.5
30 suppressor of tumorigenicity 3 10.4
31 chronic interstitial cystitis 10.4
32 hypercholesterolemia, familial, 1 10.4
33 idiopathic nephrotic syndrome 10.4
34 acute kidney failure 10.4
35 branchiootic syndrome 1 10.4
36 anuria 10.4
37 endometrial cancer 10.4
38 rectum cancer 10.4
39 iga nephropathy 1 10.4 NPHS2 NPHS1
40 measles 10.3
41 amyloidosis 10.3
42 cervix carcinoma 10.3
43 thrombosis 10.3
44 focal segmental glomerulosclerosis 5 10.3 NPHS2 ACTN4
45 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
46 renal dysplasia 10.3
47 kidney hypertrophy 10.3 NPHS2 NPHS1
48 interstitial nephritis 10.3
49 peritonitis 10.3
50 nephrotic syndrome, type 10 10.3 NPHS2 NPHS1

Graphical network of the top 20 diseases related to Hypoparathyroidism, Sensorineural Deafness, and Renal Disease:



Diseases related to Hypoparathyroidism, Sensorineural Deafness, and Renal Disease

Symptoms & Phenotypes for Hypoparathyroidism, Sensorineural Deafness, and Renal Disease

Human phenotypes related to Hypoparathyroidism, Sensorineural Deafness, and Renal Disease:

58 31 (show all 32)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypoparathyroidism 58 31 very rare (1%) Obligate (100%) HP:0000829
2 renal dysplasia 58 31 obligate (100%) Obligate (100%) HP:0000110
3 progressive sensorineural hearing impairment 58 31 obligate (100%) Obligate (100%) HP:0000408
4 renal insufficiency 58 31 frequent (33%) Frequent (79-30%) HP:0000083
5 vesicoureteral reflux 58 31 frequent (33%) Frequent (79-30%) HP:0000076
6 hydronephrosis 58 31 frequent (33%) Frequent (79-30%) HP:0000126
7 polycystic kidney dysplasia 58 31 frequent (33%) Frequent (79-30%) HP:0000113
8 unilateral renal agenesis 58 31 frequent (33%) Frequent (79-30%) HP:0000122
9 hypocalcemic seizures 58 31 frequent (33%) Frequent (79-30%) HP:0002199
10 parathyroid hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0000860
11 diabetes mellitus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000819
12 uterus didelphys 58 31 occasional (7.5%) Occasional (29-5%) HP:0003762
13 septate vagina 58 31 occasional (7.5%) Occasional (29-5%) HP:0001153
14 psoriasiform dermatitis 58 31 very rare (1%) Very rare (<4-1%) HP:0003765
15 cleft palate 58 31 very rare (1%) Very rare (<4-1%) HP:0000175
16 rod-cone dystrophy 58 31 very rare (1%) Very rare (<4-1%) HP:0000510
17 severe postnatal growth retardation 58 31 very rare (1%) Very rare (<4-1%) HP:0008850
18 abnormal heart morphology 58 31 very rare (1%) Very rare (<4-1%) HP:0001627
19 aplasia of the uterus 58 31 very rare (1%) Very rare (<4-1%) HP:0000151
20 vaginal atresia 58 31 very rare (1%) Very rare (<4-1%) HP:0000148
21 sensorineural hearing impairment 31 very rare (1%) HP:0000407
22 abnormality of t cell physiology 31 very rare (1%) HP:0011840
23 proteinuria 31 HP:0000093
24 hematuria 31 HP:0000790
25 nephrotic syndrome 31 HP:0000100
26 nephrocalcinosis 31 HP:0000121
27 proximal renal tubular acidosis 31 HP:0002049
28 hypocalcemia 58 Frequent (79-30%)
29 chronic kidney disease 31 HP:0012622
30 distal renal tubular acidosis 31 HP:0008341
31 primary t-lymphocyte immune abnormalities 58 Very rare (<4-1%)
32 thickening of the glomerular basement membrane 31 HP:0004722

Symptoms via clinical synopsis from OMIM:

56
Endocrine Features:
hypoparathyroidism

Head And Neck Ears:
deafness, sensorineural

Genitourinary Kidneys:
renal dysplasia
renal agenesis, unilateral (in some patients)
nephrosis
progressive renal failure

Genitourinary Internal Genitalia Female:
septate uterus (rare)
uterus didelphys (rare)
uterine agenesis (rare)
septate vagina (rare)
vaginal agenesis (rare)

Clinical features from OMIM:

146255

MGI Mouse Phenotypes related to Hypoparathyroidism, Sensorineural Deafness, and Renal Disease:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.81 ACTN4 CASR CELF2 GATA3 GCM2 LAMB2
2 mortality/aging MP:0010768 9.7 ACTN4 CASR CELF2 GATA3 GCM2 LAMB2
3 renal/urinary system MP:0005367 9.17 ACTN4 CASR GATA3 GCM2 LAMB2 NPHS1

Drugs & Therapeutics for Hypoparathyroidism, Sensorineural Deafness, and Renal Disease

Drugs for Hypoparathyroidism, Sensorineural Deafness, and Renal Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 271)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Entecavir Approved, Investigational Phase 4 142217-69-4 153941
2
Bupropion Approved Phase 4 34911-55-2, 34841-39-9 444
3
Valsartan Approved, Investigational Phase 4 137862-53-4 60846
4
Angiotensin II Approved, Investigational Phase 4 4474-91-3, 11128-99-7, 68521-88-0 172198
5
Acetazolamide Approved, Vet_approved Phase 4 59-66-5 1986
6
Amlodipine Approved Phase 4 88150-42-9 2162
7
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
8
Racepinephrine Approved Phase 4 329-65-7 838
9
Methohexital Approved Phase 4 151-83-7 9034
10
Succinylcholine Approved Phase 4 306-40-1 5314
11
Fluoxetine Approved, Vet_approved Phase 4 54910-89-3 3386
12
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 5754
13
Hydrocortisone acetate Approved, Vet_approved Phase 4 50-03-3
14
Ramipril Approved Phase 4 87333-19-5 5362129
15
Lamotrigine Approved, Investigational Phase 4 84057-84-1 3878
16
Olanzapine Approved, Investigational Phase 4 132539-06-1 4585
17
Memantine Approved, Investigational Phase 4 19982-08-2 4054
18
Cosyntropin Approved Phase 4 16960-16-0 16129617
19
Cycloserine Approved Phase 4 68-41-7 401 6234
20
Phenytoin Approved, Vet_approved Phase 4 57-41-0 1775
21
Tacrolimus Approved, Investigational Phase 4 104987-11-3 445643 439492 6473866
22
Hydrochlorothiazide Approved, Vet_approved Phase 4 58-93-5 3639
23
Amiloride Approved Phase 4 2016-88-8, 2609-46-3 16231
24
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
25
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
26
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
27
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
28 Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
29
Cyclophosphamide Approved, Investigational Phase 4 50-18-0, 6055-19-2 2907
30
Mycophenolic acid Approved Phase 4 24280-93-1 446541
31
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
32
Clotrimazole Approved, Vet_approved Phase 4 23593-75-1 2812
33
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
34
Pravastatin Approved Phase 4 81093-37-0 54687
35
Heparin Approved, Investigational Phase 4 9005-49-6 46507594 772
36
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
37
Pramipexole Approved, Investigational Phase 4 104632-26-0 119570 59868
38
Tocopherol Approved, Investigational Phase 4 1406-66-2, 54-28-4 14986
39
Galantamine Approved Phase 4 357-70-0 9651
40
Vitamin D3 Approved, Nutraceutical Phase 4 67-97-0 5280795 6221
41
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
42
Alfacalcidol Approved, Nutraceutical Phase 4 41294-56-8 5282181
43
Vitamin E Approved, Nutraceutical, Vet_approved Phase 4 59-02-9 14985
44
N,N-dimethylarginine Experimental Phase 4 30315-93-6 123831
45
Resveratrol Investigational Phase 4 501-36-0 445154
46
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
47 Tocotrienol Investigational Phase 4 6829-55-6
48 Antiviral Agents Phase 4
49 Angiotensin II Type 1 Receptor Blockers Phase 4
50 Angiotensinogen Phase 4

Interventional clinical trials:

(show top 50) (show all 308)
# Name Status NCT ID Phase Drugs
1 Long Term Tapering or Standard Steroids for Nephrotic Syndrome Unknown status NCT00308321 Phase 4 long term tapering of prednisolone;standard prednisolone treatment
2 Study of Safety, Immunogenicity and Immunological Memory of 7-valent Pneumococcal Conjugate Vaccine in Children With Idiopathic Nephrotic Syndrome Unknown status NCT01346007 Phase 4
3 Adjusted Steroid Therapy in Children With Idiopathic Nephrotic Syndrome Unknown status NCT02649413 Phase 4 Prednisone
4 Treatment of Nephrotic Syndrome Relapse With Low Steroid Dose Unknown status NCT02216747 Phase 4 prednisone 60 mg/meter square Body Surface Area;prednisone 45 mg;prednisone 30 mg
5 The Therapy of Tacrolimus Combined With Entecavir on HBV Associated Glomerulonephritis : A Multicenter, Prospective, Randomized, Controlled, Single-blind Trial. Unknown status NCT03062813 Phase 4 Tacrolimus &entecavir;placebo & entecavir
6 Intensive Medical Treatment for Nephropathy Caused by Type 2 Diabetes With Hypertension Unknown status NCT00407680 Phase 4 Intensive therapy Valsartan,Fluvastatin
7 Collaborative Care for Depressed Elders in China Unknown status NCT01287494 Phase 4 Sertraline
8 Population Pharmacokinetics of Tacrolimus in Children With Nephrotic Syndrome Completed NCT03347357 Phase 4 Tacrolimus
9 Open-Label, Randomized, Comparative, Multi-Center Clinical Trial on the Therapeutic Effect of Tacrolimus (Prograf Cap.®) in Combination With Low-Dose Corticosteroid Compared With High-Dose Corticosteroid Alone in Patients With Minimal-Change Nephrotic Syndrome (MCNS) Completed NCT01763580 Phase 4 Tacrolimus;Prednisolone
10 A Prospective, Randomized, Open-label Study Evaluating the Efficacy of Mycophenolate Mofetil in the Prevention of Relapse of Steroid Dependent Nephrotic Syndrome in Children Completed NCT01895894 Phase 4 Mycophenolate mofetil
11 The Treatment of Resistant Nephrotic Syndrome With ACTH Gel (ACTHAR) Completed NCT01129284 Phase 4 ACTHAR gel
12 Myfortic® Combined With Low-dose Steroid in Minimal Change Nephrotic Syndrome Completed NCT01185197 Phase 4 Myfortic plus low-dose steroid;Prednisolone
13 Therapeutic Effect of Tacrolimus on Primary Nephrotic Syndrome in Children Completed NCT01162005 Phase 4 Tacrolimus
14 Acetazolamide and Hydrochlorothiazide Followed by Furosemide Versus Hydrochlorothiazide and Furosemide Followed by Furosemide for the Treatment of Adults With Refractory Nephrotic Edema: A Randomized, Double-Blind Trial Completed NCT02427880 Phase 4 Acetazolamide and Hydrochlorothiazide Followed by Furosemide;Furosemide and Hydrochlorothiazide Followed by Furosemide
15 Tacrolimus vs Prednisolone for the Treatment Minimal Change Disease Completed NCT00982072 Phase 4 tacrolimus;prednisolone
16 Prospective Study Evaluating the Effect of Repository Corticotropin in the Treatment of Various Nephrotic Syndromes Completed NCT01021540 Phase 4 Repository corticotrophin
17 HSP-glomerulonephritis Trial: MP vs CyA Completed NCT00425724 Phase 4 Methylprednisolone pulses plus prednisone versus Cyclosporine A
18 "Safety and Efficacy of Acthar Gel on Albuminuria and Urinary Transforming Growth Factor Excretion in Type I or Type II Diabetics Requiring Medical Treatment of Hyperglycemia With Nephrotic Range Proteinuria: A Pilot Study" Completed NCT01028287 Phase 4 ACTH;ACTH
19 A Randomized, Placebo-Controlled, Parallel-Group, Double-Blind Study of H.P. Acthar Gel (Acthar) in Treatment-Resistant Subjects With Persistent Proteinuria and Nephrotic Syndrome Due to Idiopathic Membranous Nephropathy (iMN) Completed NCT01386554 Phase 4 Repository Corticotropin Injection;Placebo
20 Vitamin D Supplementation in Children and Adolescents Seen in the Paediatric Nephrology Service: Study of the Efficacy of Service Usual Care (Cholecalciferol) and Its Impact on Calciuria. Completed NCT02238418 Phase 4 Cholecalciferol vial (100 000 UI)
21 Mycophenolate Mofetil and Tacrolimus vs Tacrolimus Alone for the Treatment of Idiopathic Membranous Glomerulonephritis (IMG) Completed NCT00843856 Phase 4 tacrolimus;tacrolimus and mycophenolate mofetil
22 A Randomised Controlled Trial of Standard Bilateral Electroconvulsive Therapy Versus High-dose Unilateral Electroconvulsive Therapy for Severe Depression Completed NCT01907217 Phase 4 Methohexitone;Suxamethonium
23 The Effect of Renin Angiotensin System Blockage (RAS) Blockade On PTX3 Levels In Diabetic Patients With Proteinuria Completed NCT00674596 Phase 4 ramipril
24 Baseline Insular Dysfunction as a Predictor of Ketamine's Antidepressant Effects in Anxious Depression Completed NCT02544607 Phase 4 Ketamine
25 Double-Blind, Acute Depression Study Comparing Venlafaxine XR and Lamotrigine When Added to Mood Stabilizer in the Treatment of Bipolar Depression Completed NCT00188643 Phase 4 Venlafaxine and Lamotrigine
26 Effect of Calcium Channel Blocker on the Serum Fibrobalst Growth Factor-23 (FGF-23) Levels in Type-2 Diabetic Patients With Proteinuria Purpose Completed NCT01738945 Phase 4 Amlodipine
27 Effect of Renin Angiotensin System Blockade on CD95 and ADMA Levels in Type-2 Diabetic Patients With Proteinuria Completed NCT00893425 Phase 4 ramipril
28 Double-Blind Placebo-Controlled Olanzapine Add-on Therapy in the Treatment of Acute Syndromal and Subsyndromal Exacerbations in Bipolar Disorders Completed NCT00186017 Phase 4 Olanzapine/Zyprexa
29 Memantine Augmentation of Lamotrigine Incomplete Response in Bipolar Depression: A Randomized Placebo Controlled Clinical Trial Completed NCT00305578 Phase 4 Memantine;Placebo
30 Determination of Method-specific Normal Cortisol and Adrenal Hormone Responses to the Short Synacthen Test Completed NCT00851942 Phase 4 Synacthen (Tetracosactrin)
31 FGF-23 and Endothelial Dysfunction in Diabetic Proteinuric Patients Completed NCT01703234 Phase 4 Ramipril
32 The Effects of Renin Angiotensin System Blockage (RAS), Calcium Channel Blocker and Combine Drugs on TWEAK, PTX3 and FMD Levels in Diabetic Proteinuric Patients With Hypertension Completed NCT00921570 Phase 4 Amlodipine;Valsartan
33 NMDA Antagonists in Bipolar Depression Completed NCT01833897 Phase 4 Standard of Care;Ketamine;D-cycloserine
34 A Pilot Study of Cranial Electrotherapy Stimulation[CES] for Generalized Anxiety Disorder Completed NCT00539357 Phase 4
35 Phenytoin as an Augmentation for SSRI Failures: A Controlled Study Completed NCT00146237 Phase 4 phenytoin
36 Study of Tacrolimus vs Mycophenolate Mofetil in Pediatric Patients With Frequently Relapsing or Steroid Dependent Nephrotic Syndrome: a Randomized, Multicenter, Open-label, Parallel-arm Study Recruiting NCT04048161 Phase 4 Tacrolimus;Mycophenolate Mofetil
37 Efficacy and Safety of Rituximab to That of Calcineurin Inhibitors in Children With Steroid Resistant Nephrotic Syndrome Recruiting NCT02382575 Phase 4 Rituximab;Tacrolimus
38 Treatment of Primary Minimal Change Nephropathy: A Randomized Open-labeled Non-inferiority Study on Prednisolone and Vitamin D Recruiting NCT03210688 Phase 4 Prednisolone;Alfacalcidol
39 A Prospective Randomized, Controlled Trial of Mycophenolate Mofetil Plus Steroid in the Treatment Of Patients With Progressive Idiopathic Membranous Nephropathy Recruiting NCT03170323 Phase 4 Mycophenolate Mofetil;Cyclosporins
40 Changes in Autoreactive Memory B Cells as Biomarker of Response to Adrenocorticotropic Hormone in Patients With Membranous Nephropathy Recruiting NCT03025828 Phase 4 ACTHar
41 Efficacy and Safety of Resveratrol in the Treatment of Depression: Double-blind Randomized Placebo-controlled Parallel-group Study. Recruiting NCT03384329 Phase 4 Resveratrol Pill;Placebos
42 The Effect and Safety of Amiloride in Decreasing Proteinuria for Patients With Chronic Kidney Disease in a Prospective , Crossover, Open-label Study. Recruiting NCT03170336 Phase 4 Amiloride;Hydrochlorothiazide
43 Advancing Personalized Antidepressant Treatment Using PET/MRI Recruiting NCT02623205 Phase 4 Escitalopram;Placebo
44 Concurrent fMRI-guided rTMS and Cognitive Therapy for the Treatment of Major Depressive Episodes Recruiting NCT03289923 Phase 4
45 A Multinational Prospective Study on the Duration of Steroid Therapy in Steroid Sensitive Nephrotic Syndrome Not yet recruiting NCT03878914 Phase 4 Corticosteroids
46 Multitarget Therapy for Idiopathic Membranous Nephropathy Not yet recruiting NCT04424862 Phase 4 Prednisone, ciclosporin and mycophenolate mofetil;Ponticelli Regimen
47 Imaging the Nucleus Accumbens in Major Depressed Patients 'Treated With Pramipexole Terminated NCT01066897 Phase 4 Pramipexole
48 Effect of an Oxidative-Stress-Reducing Strategy Consisting of Pravastatin, Vitamin E and Homocysteine-Lowering on Carotid Intima-Media Thickness in Patients With Mild-to-Moderate Chronic Kidney Disease Terminated NCT00384618 Phase 4 pravastatin;vitamin E
49 Response of Recombinant Antithrombin in Heparin Resistant Patients Undergoing Cardiac Surgery Terminated NCT01547728 Phase 4 Recombinant antithrombin (rhAT)
50 Galantamine Augmentation of Escitalopram for Treatment of Depression Associated Cognitive Impairment in Outpatients - A Randomized Single Blind Clinical Trial Terminated NCT00423969 Phase 4 Galantamine;Escitalopram

Search NIH Clinical Center for Hypoparathyroidism, Sensorineural Deafness, and Renal Disease

Inferred drug relations via UMLS 71 / NDF-RT 50 :


Bendroflumethiazide
benzthiazide
Bumetanide
Chlorothiazide
Chlorothiazide sodium
Chlorthalidone
Cyclophosphamide
cyclothiazide
Ethacrynate Sodium
Ethacrynic Acid
Furosemide
Hydrochlorothiazide
Hydroflumethiazide
Indapamide
Methyclothiazide
Metolazone
Polythiazide
quinethazone
torsemide
Trichlormethiazide

Cochrane evidence based reviews: nephrosis

Genetic Tests for Hypoparathyroidism, Sensorineural Deafness, and Renal Disease

Genetic tests related to Hypoparathyroidism, Sensorineural Deafness, and Renal Disease:

# Genetic test Affiliating Genes
1 Hypoparathyroidism-Deafness-Renal Disease Syndrome 29 GATA3

Anatomical Context for Hypoparathyroidism, Sensorineural Deafness, and Renal Disease

MalaCards organs/tissues related to Hypoparathyroidism, Sensorineural Deafness, and Renal Disease:

40
Kidney, Heart, Testes, Ovary, Brain, Uterus, Liver

Publications for Hypoparathyroidism, Sensorineural Deafness, and Renal Disease

Articles related to Hypoparathyroidism, Sensorineural Deafness, and Renal Disease:

(show all 47)
# Title Authors PMID Year
1
A new case of HDR syndrome with severe female genital tract malformation: comment on "Novel mutation in the gene encoding the GATA3 transcription factor in a Spanish familial case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with female genital tract malformations" by Hernández et al. 6 56
21834031 2011
2
HDR syndrome: a novel "de novo" mutation in GATA3 gene. 6 56
19248180 2009
3
Germinal mosaicism of GATA3 in a family with HDR syndrome. 56 6
19253381 2009
4
Novel mutation in the gene encoding the GATA3 transcription factor in a Spanish familial case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with female genital tract malformations. 56 6
17309062 2007
5
GATA3 abnormalities and the phenotypic spectrum of HDR syndrome. 6 56
11389161 2001
6
GATA3 haplo-insufficiency causes human HDR syndrome. 6 56
10935639 2000
7
HDR (Hypoparathyroidism, Deafness, Renal dysplasia) syndrome associated to GATA3 gene duplication. 56
19659764 2009
8
Identification of three novel mutations in the GATA3 gene responsible for familial hypoparathyroidism and deafness in the Chinese population. 6
16912130 2006
9
An HDR (hypoparathyroidism, deafness, renal dysplasia) syndrome locus maps distal to the DiGeorge syndrome region on 10p13/14. 56
10633131 2000
10
Recurrent cerebral infarctions and del(10)(p14p15.1) de novo in HDR (hypoparathyroidism, sensorineural deafness, renal dysplasia) syndrome. 56
10508983 1999
11
Partial DiGeorge syndrome in two patients with a 10p rearrangement. 56
10361989 1999
12
Autosomal dominant familial hypoparathyroidism and sensorineural deafness without renal dysplasia. 56
9916869 1998
13
HDR syndrome (hypoparathyroidism, sensorineural deafness, renal dysplasia) associated with del(10)(p13). 56
9415468 1997
14
Brief report: autosomal dominant familial hypoparathyroidism, sensorineural deafness, and renal dysplasia. 56
1522843 1992
15
Autosomal recessive hypoparathyroidism with renal insufficiency and developmental delay. 56
1719942 1991
16
Familial idiopathic hypoparathyroidism and progressive sensorineural deafness. 56
3961795 1986
17
Familial nephrosis, nerve deafness, and hypoparathyroidism. 56
874665 1977
18
Novel heterozygous GATA3 and SLC34A3 variants in a 6-year-old boy with Barakat syndrome and hypercalciuria. 61
32155322 2020
19
Hyperkalemia Unveiled: A Case of Barakat Syndrome. 61
32269443 2020
20
Hypoparathyroidism, Sensorineural deafness and renal disease (Barakat syndrome) caused by a reduced gene dosage in GATA3: a case report and review of literature. 61
31660939 2019
21
HDR Syndrome Accompanying Type 1 Diabetes Mellitus and Hypopituitarism. 61
31223507 2019
22
A Unique Genomic Variant of HDR Syndrome in Newborn. 61
30218523 2018
23
Barakat syndrome revisited. 61
29663634 2018
24
HDR syndrome with a novel mutation in GATA3 mimicking a congenital X-linked stapes gusher: a case report. 61
29073906 2017
25
Interstitial 10p deletion derived from a maternal ins(16;10)(q22;p13p15.2): Report of the first familial case of 10p monosomy affecting to two familial members of different generations. 61
26762557 2016
26
Barakat syndrome or HDR syndrome: Another association of kidney disease and deafness. 61
26651600 2016
27
Vitamin D deficiency in a patient with HDR syndrome. 61
26156834 2015
28
GATA3 controls the specification of prosensory domain and neuronal survival in the mouse cochlea. 61
23666531 2013
29
Seizure, deafness, and renal failure: a case of barakat syndrome. 61
24527244 2013
30
Seizure, deafness and renal agenesis: A rare case of barakat syndrome. 61
23661972 2013
31
Unique phenotype in a patient with CHARGE syndrome. 61
21995344 2011
32
HDR Syndrome (Hypoparathyroidism, Sensorineural Deafness and Renal Disease) Accompanied by Hirschsprung Disease. 61
23056694 2010
33
Phosphorylation status of nephrin in human membranous nephropathy. 54
19882202 2010
34
Expression of galectin-1, a new component of slit diaphragm, is altered in minimal change nephrotic syndrome. 54
19079321 2009
35
The association of podocin R229Q polymorphism with increased albuminuria or reduced estimated GFR in a large population-based sample of US adults. 54
18499321 2008
36
Concomitant hypoparathyroidism, sensorineural deafness, and renal agenesis: a case of Barakat syndrome. 61
18426329 2008
37
Connecting the interpodocyte slit diaphragm and actin dynamics: Emerging role for the nephrin signaling complex. 54
18379524 2008
38
Decreased tyrosine phosphorylation of nephrin in rat and human nephrosis. 54
18256598 2008
39
HDR syndrome (hypoparathyroidism, sensorineural deafness and renal disease) accompanied by renal tubular acidosis and endocrine abnormalities. 61
18520110 2008
40
Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders. 54
16912710 2006
41
Expression of alpha-actinin-4 in acquired human nephrotic syndrome: a quantitative immunoelectron microscopy study. 54
15031339 2004
42
[A genetic viewpoint of focal glomerular sclerosis: fom genes to glomerular pathophysiology [corrected]]. 54
14523896 2003
43
Retinoids regulate the repairing process of the podocytes in puromycin aminonucleoside-induced nephrotic rats. 54
12660332 2003
44
Increased expression of heparanase in puromycin aminonucleoside nephrosis. 54
11576343 2001
45
Expression of nephrin in pediatric kidney diseases. 54
11158218 2001
46
The renal glomerulus of mice lacking s-laminin/laminin beta 2: nephrosis despite molecular compensation by laminin beta 1. 54
7670489 1995
47
The prolonged thrombin time of nephrotic syndrome. 54
7749766 1995

Variations for Hypoparathyroidism, Sensorineural Deafness, and Renal Disease

ClinVar genetic disease variations for Hypoparathyroidism, Sensorineural Deafness, and Renal Disease:

6 (show top 50) (show all 101) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GATA3 NM_001002295.2(GATA3):c.961T>A (p.Cys321Ser)SNV Pathogenic 869468 10:8111472-8111472 10:8069509-8069509
2 GATA3 NM_001002295.2(GATA3):c.431dup (p.His145fs)duplication Pathogenic 870395 10:8100451-8100452 10:8058488-8058489
3 GATA3 GATA3, 900-KB DELdeletion Pathogenic 16619
4 GATA3 GATA3, 250-KB DELdeletion Pathogenic 16620
5 GATA3 GATA3, 49-BP DEL, NT465-513deletion Pathogenic 16621
6 GATA3 GATA3, 12-BP DEL, NT946-957deletion Pathogenic 16622
7 GATA3 NM_001002295.2(GATA3):c.829C>T (p.Arg277Ter)SNV Pathogenic 16623 rs104894162 10:8106006-8106006 10:8064043-8064043
8 GATA3 NM_001002295.2(GATA3):c.823T>A (p.Trp275Arg)SNV Pathogenic 16624 rs104894163 10:8106000-8106000 10:8064037-8064037
9 GATA3 GATA3, 2-BP INS, 3-BP INSinsertion Pathogenic 16625
10 GATA3 NM_001002295.2(GATA3):c.1099C>T (p.Arg367Ter)SNV Pathogenic 16626 rs104894164 10:8115750-8115750 10:8073787-8073787
11 GATA3 NM_001002295.2(GATA3):c.431del (p.Gly144fs)deletion Pathogenic 16627 10:8100452-8100452 10:8058489-8058489
12 GATA3 NM_001002295.2(GATA3):c.478del (p.Asp160fs)deletion Pathogenic 16628 10:8100503-8100503 10:8058540-8058540
13 GATA3 NM_001002295.2(GATA3):c.924+2delinsGCTTACTTCCCindel Pathogenic 16629 rs387906551 10:8106103-8106103 10:8064140-8064140
14 GATA3 NM_001002295.2(GATA3):c.1059A>T (p.Arg353Ser)SNV Pathogenic 16630 rs104894165 10:8115710-8115710 10:8073747-8073747
15 GATA3 NM_001002295.2(GATA3):c.108_109del (p.Met36fs)deletion Pathogenic 29692 10:8097726-8097727 10:8055763-8055764
16 GATA3 NM_001002295.2(GATA3):c.1025G>A (p.Cys342Tyr)SNV Pathogenic 29693 rs387906621 10:8111536-8111536 10:8069573-8069573
17 subset of 74 genes: GATA3 deletion Pathogenic 599307 10:4689760-19120882
18 GATA3 NM_001002295.2(GATA3):c.324del (p.Ala109fs)deletion Pathogenic 694354 10:8100349-8100349 10:8058386-8058386
19 GATA3 NM_001002295.2(GATA3):c.708del (p.Ser237fs)deletion Pathogenic 802559 10:8100728-8100728 10:8058765-8058765
20 GATA3 NM_001002295.2(GATA3):c.681_682insACCACCCCATCAGCACTCACCCGCCCTACGTGCCC (p.Glu228fs)insertion Pathogenic 236031 rs878853222 10:8100690-8100691 10:8058727-8058728
21 GATA3 NM_001002295.2(GATA3):c.1058G>C (p.Arg353Thr)SNV Likely pathogenic 585128 rs1564405163 10:8115709-8115709 10:8073746-8073746
22 GATA3 NM_001002295.2(GATA3):c.57C>T (p.Leu19=)SNV Uncertain significance 301117 rs749900784 10:8097675-8097675 10:8055712-8055712
23 GATA3 NM_001002295.2(GATA3):c.*647A>GSNV Uncertain significance 301141 rs563624409 10:8116633-8116633 10:8074670-8074670
24 GATA3 NM_001002295.2(GATA3):c.*714G>ASNV Uncertain significance 301143 rs886047303 10:8116700-8116700 10:8074737-8074737
25 GATA3 NM_001002295.2(GATA3):c.*746C>TSNV Uncertain significance 301144 rs545858251 10:8116732-8116732 10:8074769-8074769
26 GATA3 NM_001002295.2(GATA3):c.1266G>A (p.Pro422=)SNV Uncertain significance 301129 rs541782074 10:8115917-8115917 10:8073954-8073954
27 GATA3 NM_001002295.2(GATA3):c.*267G>ASNV Uncertain significance 301135 rs886047301 10:8116253-8116253 10:8074290-8074290
28 GATA3 NM_001002295.2(GATA3):c.*356G>ASNV Uncertain significance 301136 rs886047302 10:8116342-8116342 10:8074379-8074379
29 GATA3 NM_001002295.2(GATA3):c.*1072C>ASNV Uncertain significance 301151 rs886047306 10:8117058-8117058 10:8075095-8075095
30 GATA3 NM_001002295.2(GATA3):c.436G>A (p.Ala146Thr)SNV Uncertain significance 301120 rs752779081 10:8100462-8100462 10:8058499-8058499
31 GATA3 NM_001002295.2(GATA3):c.*265dupduplication Uncertain significance 301133 rs3839918 10:8116241-8116242 10:8074278-8074279
32 GATA3 NM_001002295.2(GATA3):c.*575A>CSNV Uncertain significance 301139 rs552915242 10:8116561-8116561 10:8074598-8074598
33 GATA3 NM_001002295.2(GATA3):c.*857A>TSNV Uncertain significance 301146 rs886047304 10:8116843-8116843 10:8074880-8074880
34 GATA3 NM_001002295.2(GATA3):c.*895T>GSNV Uncertain significance 301147 rs886047305 10:8116881-8116881 10:8074918-8074918
35 GATA3 NM_001002295.2(GATA3):c.1058G>A (p.Arg353Lys)SNV Uncertain significance 802560 10:8115709-8115709 10:8073746-8073746
36 GATA3 NM_001002295.2(GATA3):c.-503_-502dupduplication Uncertain significance 301100 rs60098638 10:8096706-8096707 10:8054743-8054744
37 GATA3 NM_001002295.2(GATA3):c.-369-11C>TSNV Uncertain significance 301104 rs886047297 10:8097239-8097239 10:8055276-8055276
38 GATA3 NM_001002295.2(GATA3):c.-287G>ASNV Uncertain significance 301107 rs886047298 10:8097332-8097332 10:8055369-8055369
39 GATA3 NM_001002295.2(GATA3):c.-148A>GSNV Uncertain significance 301110 rs886047299 10:8097471-8097471 10:8055508-8055508
40 GATA3 NM_001002295.2(GATA3):c.-561G>TSNV Uncertain significance 879061 10:8096663-8096663 10:8054700-8054700
41 GATA3 NM_001002295.2(GATA3):c.1223C>T (p.Ser408Leu)SNV Uncertain significance 301128 rs752977342 10:8115874-8115874 10:8073911-8073911
42 GATA3 NM_001002295.2(GATA3):c.*105A>GSNV Uncertain significance 301132 rs886047300 10:8116091-8116091 10:8074128-8074128
43 GATA3 NM_001002295.2(GATA3):c.*264_*265dupduplication Uncertain significance 301134 rs3839918 10:8116241-8116242 10:8074278-8074279
44 GATA3 NM_001002295.2(GATA3):c.*952G>ASNV Uncertain significance 301148 rs773450577 10:8116938-8116938 10:8074975-8074975
45 GATA3 NM_001002295.2(GATA3):c.*1029C>TSNV Uncertain significance 301149 rs530772797 10:8117015-8117015 10:8075052-8075052
46 GATA3 NM_001002295.2(GATA3):c.-413C>TSNV Uncertain significance 301101 rs540527013 10:8096811-8096811 10:8054848-8054848
47 GATA3 NM_001002295.2(GATA3):c.-370+28dupduplication Uncertain significance 301102 rs397846644 10:8096869-8096870 10:8054906-8054907
48 GATA3 NM_001002295.2(GATA3):c.631G>A (p.Ala211Thr)SNV Uncertain significance 301123 rs778421571 10:8100657-8100657 10:8058694-8058694
49 GATA3 NM_001002295.2(GATA3):c.-495G>CSNV Uncertain significance 879062 10:8096729-8096729 10:8054766-8054766
50 GATA3 NM_001002295.2(GATA3):c.-80C>TSNV Uncertain significance 880280 10:8097539-8097539 10:8055576-8055576

UniProtKB/Swiss-Prot genetic disease variations for Hypoparathyroidism, Sensorineural Deafness, and Renal Disease:

73
# Symbol AA change Variation ID SNP ID
1 GATA3 p.Trp274Arg VAR_017818 rs104894163
2 GATA3 p.Arg298Gln VAR_075427

Copy number variations for Hypoparathyroidism, Sensorineural Deafness, and Renal Disease from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 38190 10 1 6700000 Microdeletion Barakat syndrome

Expression for Hypoparathyroidism, Sensorineural Deafness, and Renal Disease

Search GEO for disease gene expression data for Hypoparathyroidism, Sensorineural Deafness, and Renal Disease.

Pathways for Hypoparathyroidism, Sensorineural Deafness, and Renal Disease

Pathways related to Hypoparathyroidism, Sensorineural Deafness, and Renal Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.28 PTH GCM2 GATA3 CASR
2 10.79 NPHS2 NPHS1 LAMB2 ACTN4
3 10.67 NPHS2 NPHS1
4 10.5 NPHS1 ACTN4

GO Terms for Hypoparathyroidism, Sensorineural Deafness, and Renal Disease

Cellular components related to Hypoparathyroidism, Sensorineural Deafness, and Renal Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 slit diaphragm GO:0036057 8.62 NPHS2 NPHS1

Biological processes related to Hypoparathyroidism, Sensorineural Deafness, and Renal Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cellular calcium ion homeostasis GO:0006874 9.43 PTH GCM2 CASR
2 excretion GO:0007588 9.32 NPHS2 NPHS1
3 response to fibroblast growth factor GO:0071774 9.16 PTH CASR
4 parathyroid gland development GO:0060017 8.96 GCM2 GATA3
5 metanephric glomerular visceral epithelial cell development GO:0072249 8.62 NPHS2 LAMB2

Molecular functions related to Hypoparathyroidism, Sensorineural Deafness, and Renal Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.55 ZFPM2 PTH GCM2 GATA3 DR1
2 integrin binding GO:0005178 9.13 LAMB2 CASR ACTN4
3 transcription coactivator activity GO:0003713 8.92 ZFPM2 GATA3 DR1 ACTN4

Sources for Hypoparathyroidism, Sensorineural Deafness, and Renal Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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