HDR
MCID: HYP257
MIFTS: 57

Hypoparathyroidism, Sensorineural Deafness, and Renal Disease (HDR)

Categories: Ear diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Nephrological 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 57 12 72
Barakat Syndrome 57 12 20 58 72 44 39 70
Hypoparathyroidism-Deafness-Renal Disease Syndrome 12 29 6 15
Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia 57 20 13
Nephrosis, Nerve Deafness, and Hypoparathyroidism 57 20 72
Hdr Syndrome 12 20 58
Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia Syndrome 57 72
Nephrosis 44 70
Hdr 57 72
Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia Syndrome; Hdrs 57
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 70
Hdrs 57

Characteristics:

Orphanet epidemiological data:

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

OMIM®:

57 (Updated 05-Apr-2021)
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

GARD : 20 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 Prednisolone acetate have been mentioned in the context of this disorder. Affiliated tissues include prostate, kidney and uterus, 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.

OMIM® : 57 HDR syndrome (HDR), also known as Barakat syndrome, is a heterogeneous disorder characterized by the triad of Hypoparathyroidism (H), nerve Deafness (D) and/or Renal disease (R). Variable clinical features include hypogonadotrophic hypogonadism, polycystic ovaries, congenital heart disease, retinitis pigmentosa, and cognitive disability (Barakat et al., 2018). (146255) (Updated 05-Apr-2021)

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 : 72 Hypoparathyroidism, sensorineural deafness, and renal disease: A disease characterized by steroid-resistant nephrosis with progressive renal failure, hypoparathyroidism, sensorineural deafness, and renal dysplasia.

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 32.4 NPHS2 NPHS1 ACTN4
2 nephrotic syndrome, type 1 32.2 NPHS2 NPHS1 ACTN4
3 familial nephrotic syndrome 31.9 NPHS2 NPHS1 ACTN4
4 galloway-mowat syndrome 31.9 NPHS2 NPHS1 LAMB2 ACTN4
5 pierson syndrome 31.8 NPHS2 NPHS1 LAMB2 ACTN4
6 focal segmental glomerulosclerosis 30.6 NPHS2 NPHS1 LAMB2 ACTN4
7 diffuse mesangial sclerosis 30.3 NPHS2 NPHS1 LAMB2
8 hypoparathyroidism 30.3 PTH GCM2 GATA3 CASR
9 nephrotic syndrome, type 2 30.1 NPHS2 NPHS1 ACTN4
10 congenital syphilis 29.9 NPHS2 NPHS1
11 proteinuria, chronic benign 29.8 NPHS2 NPHS1 ACTN4
12 acute proliferative glomerulonephritis 29.8 NPHS2 NPHS1
13 digeorge syndrome 29.8 PTH GCM2 DGCR2 CASR
14 nail-patella syndrome 29.8 NPHS2 NPHS1 ACTN4
15 denys-drash syndrome 29.7 NPHS2 NPHS1 ACTN4
16 nephrotic syndrome 29.6 NPHS2 NPHS1 LAMB2 ACTN4
17 hyperphosphatemia 29.5 PTH GCM2 CASR
18 alport syndrome 29.5 NPHS2 NPHS1 LAMB2 ACTN4
19 genetic steroid-resistant nephrotic syndrome 29.5 NPHS2 NPHS1 ACTN4
20 end stage renal disease 29.1 PTH NPHS2 NPHS1 GATA3 CASR ACTN4
21 kidney disease 29.0 PTH NPHS2 NPHS1 GATA3 CASR ACTN4
22 chronic kidney disease 29.0 PTH NPHS2 NPHS1 GATA3 CASR ACTN4
23 nephrosis with deafness and urinary tract and digital malformations 11.3
24 galloway-mowat syndrome 1 11.3
25 ventriculomegaly with cystic kidney disease 11.3
26 daentl towsend siegel syndrome 11.2
27 congenital nephrotic syndrome finnish type 11.2
28 pulmonic stenosis and congenital nephrosis 10.9
29 prostate cancer 10.6
30 cervical cancer 10.5
31 branchiootic syndrome 1 10.4
32 renal dysplasia 10.3
33 hypercholesterolemia, familial, 1 10.3
34 idiopathic nephrotic syndrome 10.3
35 suppressor of tumorigenicity 3 10.3
36 acute kidney failure 10.3
37 idiopathic steroid-resistant nephrotic syndrome 10.3 NPHS2 NPHS1
38 anuria 10.3
39 rectum cancer 10.3
40 amyloidosis 10.3
41 endometrial cancer 10.3
42 calcinosis 10.3
43 measles 10.3
44 glomerular disease 10.3
45 lung squamous cell carcinoma 10.3
46 kidney hypertrophy 10.2 NPHS2 NPHS1
47 peritonitis 10.2
48 nephrotic syndrome, type 10 10.2 NPHS2 NPHS1
49 interstitial nephritis 10.2
50 cervix carcinoma 10.2

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 cleft palate 58 31 very rare (1%) Very rare (<4-1%) HP:0000175
15 rod-cone dystrophy 58 31 very rare (1%) Very rare (<4-1%) HP:0000510
16 severe postnatal growth retardation 58 31 very rare (1%) Very rare (<4-1%) HP:0008850
17 abnormal heart morphology 58 31 very rare (1%) Very rare (<4-1%) HP:0001627
18 aplasia of the uterus 58 31 very rare (1%) Very rare (<4-1%) HP:0000151
19 psoriasiform dermatitis 58 31 very rare (1%) Very rare (<4-1%) HP:0003765
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 nephrotic syndrome 31 HP:0000100
25 hematuria 31 HP:0000790
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 thickened glomerular basement membrane 31 HP:0004722

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Endocrine Features:
hypoparathyroidism

Head And Neck Ears:
deafness, sensorineural

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

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

Clinical features from OMIM®:

146255 (Updated 05-Apr-2021)

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 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 232)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Entecavir Approved, Investigational Phase 4 142217-69-4 153941
2
Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
3
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
4
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
5
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
6
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
7
Tacrolimus Approved, Investigational Phase 4 104987-11-3 6473866 445643 439492
8
Furosemide Approved, Vet_approved Phase 4 54-31-9 3440
9
Acetazolamide Approved, Vet_approved Phase 4 59-66-5 1986
10
Hydrochlorothiazide Approved, Vet_approved Phase 4 58-93-5 3639
11
Fluoxetine Approved, Vet_approved Phase 4 54910-89-3 3386
12
Olanzapine Approved, Investigational Phase 4 132539-06-1 4585 135398745
13
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
14
Cycloserine Approved Phase 4 68-41-7 401 6234
15
Vitamin D3 Approved, Nutraceutical Phase 4 67-97-0 5280795 6221
16
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 68-26-8, 11103-57-4 445354
17
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
18
Alfacalcidol Approved, Nutraceutical Phase 4 41294-56-8 5282181
19
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
20 Vaccines Phase 4
21 Heptavalent Pneumococcal Conjugate Vaccine Phase 4
22 Antihypertensive Agents Phase 4
23 Gastrointestinal Agents Phase 4
24 Immunosuppressive Agents Phase 4
25 Immunologic Factors Phase 4
26 Neuroprotective Agents Phase 4
27 Methylprednisolone Acetate Phase 4
28 Antiemetics Phase 4
29 glucocorticoids Phase 4
30 Antineoplastic Agents, Hormonal Phase 4
31 Calcineurin Inhibitors Phase 4
32 Protective Agents Phase 4
33 Mitogens Phase 4
34 Psychotropic Drugs Phase 4
35 Anticonvulsants Phase 4
36 Analgesics Phase 4
37 Sodium Potassium Chloride Symporter Inhibitors Phase 4
38 Sodium Chloride Symporter Inhibitors Phase 4
39 Carbonic Anhydrase Inhibitors Phase 4
40 Endorphins Phase 4
41 retinol Phase 4
42 Retinol palmitate Phase 4
43 Antidepressive Agents Phase 4
44 Excitatory Amino Acid Antagonists Phase 4
45 Quetiapine Fumarate Phase 4 111974-72-2
46 Serotonin Uptake Inhibitors Phase 4
47 Anesthetics, Dissociative Phase 4
48 Anesthetics, Intravenous Phase 4
49
Benztropine Phase 4 86-13-5 6832
50 Anesthetics, General Phase 4

Interventional clinical trials:

(show top 50) (show all 228)
# Name Status NCT ID Phase Drugs
1 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
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 Long Term Tapering or Standard Steroids for Nephrotic Syndrome Unknown status NCT00308321 Phase 4 long term tapering of prednisolone;standard prednisolone treatment
5 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
6 HSP-glomerulonephritis Trial: MP vs CyA Completed NCT00425724 Phase 4 Methylprednisolone pulses plus prednisone versus Cyclosporine A
7 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
8 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
9 Population Pharmacokinetics of Tacrolimus in Children With Nephrotic Syndrome Completed NCT03347357 Phase 4 Tacrolimus
10 Myfortic® Combined With Low-dose Steroid in Minimal Change Nephrotic Syndrome Completed NCT01185197 Phase 4 Myfortic plus low-dose steroid;Prednisolone
11 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
12 Therapeutic Effect of Tacrolimus on Primary Nephrotic Syndrome in Children Completed NCT01162005 Phase 4 Tacrolimus
13 The Treatment of Resistant Nephrotic Syndrome With ACTH Gel (ACTHAR) Completed NCT01129284 Phase 4 ACTHAR gel
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 Prospective Study Evaluating the Effect of Repository Corticotropin in the Treatment of Various Nephrotic Syndromes Completed NCT01021540 Phase 4 Repository corticotrophin
16 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)
17 "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
18 NMDA Antagonists in Bipolar Depression Completed NCT01833897 Phase 4 Standard of Care;Ketamine;D-cycloserine
19 Tacrolimus vs Prednisolone for the Treatment Minimal Change Disease Completed NCT00982072 Phase 4 tacrolimus;prednisolone
20 Treatment of Primary Minimal Change Nephropathy: A Randomized Open-labeled Non-inferiority Study on Prednisolone and Vitamin D Recruiting NCT03210688 Phase 4 Prednisolone;Alfacalcidol
21 Efficacy and Safety of Rituximab to That of Calcineurin Inhibitors in Children With Steroid Resistant Nephrotic Syndrome Recruiting NCT02382575 Phase 4 Rituximab;Tacrolimus
22 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
23 A Multinational Prospective Study on the Duration of Steroid Therapy in Steroid Sensitive Nephrotic Syndrome Active, not recruiting NCT03878914 Phase 4 Corticosteroids
24 ADRENL - ACTHAR Gel for Drug REsistant Nephrotic Syndrome in Children, Pilot Study Withdrawn NCT03408405 Phase 4 Acthar Gel 80 UNT/ML Injectable Solution
25 A Prospective Interventional Pilot Study on the Use of Valproic Acid for Treatment of Idiopathic Nephrotic Syndrome Unknown status NCT02896270 Phase 2, Phase 3 Valproic Acid
26 A Multicenter, Randomised, Double-blind Placebo-controlled Trial Assessing the Efficiency of Levamisole for Maintaining Remission After the First Flare of Steroid Sensitive Nephrotic Syndrome in Children. Unknown status NCT02818738 Phase 3 Levamisole Hydrochloride
27 A Multi-center Randomized Controlled Trial of Rituximab for Refractory Nephrotic Syndrome in Children Unknown status NCT01716442 Phase 2, Phase 3 Rituximab;Placebo
28 Doctoral CRP on Clinical and Experimental Studies to Improve Radiotherapy Outcome in AIDS Cancer Patients Unknown status NCT00122746 Phase 3
29 Phase III Clinical Trial on Conventionally Fractionated Conformal Radiotherapy (CF-CRT) Versus CF-CRT Combined With High-dose-rate Brachytherapy or Stereotactic Body Radiotherapy for Intermediate and High-risk Prostate Cancer. Unknown status NCT01839994 Phase 3 Hormonal treatment (neoadjuvant androgen deprivation)
30 Interstitial Brachytherapy Alone Versus External Beam Radiation Therapy After Breast Conserving Surgery for Low-risk Invasive Carcinoma and Low-risk Ductal Carcinoma in Situ (DCIS) of the Female Breast Unknown status NCT00402519 Phase 3
31 Comparison of High-dose- Versus Low-dose-rate Brachytherapy as Monotherapy in the Treatment of Early, Organ Confined Prostate Cancer. Unknown status NCT02258087 Phase 2, Phase 3
32 Randomised Phase III Clinical Trial on Concurent Chemoradiation vs. Neoadjuvant Chemoradiation and Surgery vs. Neoadjuvant Chemotherapy and Surgery in Early Stage Bulky Cervical Cancers (FIGO Stages IB2, IIA2 and IIB) Unknown status NCT01917695 Phase 3 Chemotherapy
33 A Prospective, Randomized, Double Blind, Placebo-controlled Phase II/III Study Evaluating the Efficacy of Rituximab in the Prevention of Relapse of Calcineurin Inhibitors Dependent Idiopathic Nephrotic Syndrome of Childhood Completed NCT01268033 Phase 2, Phase 3 Rituximab;Placebo
34 Cyclophosphamide Versus Mycophenolate Mofetil for Children With Steroid-dependent Idiopathic Nephrotic Syndrome : a Multicenter Randomized Controlled Trial Completed NCT01092962 Phase 3 Cyclophosphamide;Mycophenolate mofetil
35 A Prospective, Sequential Study to Assess the Efficacy of Rituximab Therapy in Maintaining Remission of Nephrotic Syndrome After Steroid and Immunosuppressive Therapy Withdrawal in Patients With Steroid-dependant or Multirelapsing Minimal Change Disease or Focal Segmental Glomerulosclerosis (NEMO Study) Completed NCT00981838 Phase 3 Rituximab
36 Rituximab in Patients With Low Dose Steroid-dependent Idiopathic Nephrotic Syndrome Completed NCT04494438 Phase 3 Rituximab
37 Clinical Efficacy of Pentoxifylline on Patients With Primary Nephrotic Syndrome Completed NCT00354731 Phase 3 pentoxifylline;Corticosteroid
38 A Multi-center, Randomized, Controlled, Open-label Clinical Study to Evaluate the Efficacy and Safety of Mizoribine in Comparison With Cyclophosphamide in the Treatment of Refractory Nephrotic Syndrome Completed NCT02257697 Phase 3 Mizoribine (MZR);Cyclophosphamide (CTX)
39 Low Steroid Dose Combined With Mycophenolic Acid (Myfortic) Compared With High Dose Steroid for Minimal Change Nephrotic Syndrome Completed NCT01197040 Phase 3 Prednisone;acid mycophenolic (Myfortic)
40 Efficacy and Safety of Rituximab to That of Calcineurin Inhibitors in Children With Steroid Dependent Nephrotic Syndrome Completed NCT02438982 Phase 3 Tacrolimus;Rituximab
41 The Efficacy and Tolerance of Tacrolimus Sustained-release Capsules on Refractory Nephrotic Syndrome (RNS) Completed NCT01309477 Phase 3 Tacrolimus Sustained-release Capsules (ADVAGRAF)
42 Adrenocorticotropic Hormone (ACTH) for Frequently Relapsing and Steroid Dependent Nephrotic Syndrome Completed NCT02132195 Phase 3 ACTH
43 Phase 3 Study of Tacrolimus Combined With Prednisone Treatment of Idiopathic Membranous Nephropathy and Nephrotic Syndrome Completed NCT00362531 Phase 2, Phase 3 tacrolimus combined with prednisone
44 Prospective, Multicenter Study of the Efficacy and Tolerance of Tacrolimus on Refractory Nephrotic Syndrome (RNS) Completed NCT00615667 Phase 3 tacrolimus (FK506)
45 A Phase II/III Study of the Safety and Efficacy of NC-503 in Patients Suffering From Secondary (AA) Amyloidosis Completed NCT00035334 Phase 2, Phase 3 NC-503 (Anti-amyloidotic (AA) Agent)
46 Optimal Heparin Dosing Regimens for Cardiopulmonary Bypass Completed NCT00587444 Phase 3 Heparin;HH or high heparin;heparin concentration HC
47 Study of Two Fractions Versus Three Fractions High Dose Rate Brachytherapy in Locally Advanced Carcinoma of Uterine Cervix After Pelvic Concurrent Chemoradiotherapy - a Randomized Controlled Trial Completed NCT02765919 Phase 3
48 Pulse Dexamethasone Over 48 Weeks for Podocyte Disease Completed NCT00065611 Phase 3 Oral dexamethasone
49 High Dose Rate (HDR) Versus Low Dose Rate (LDR) Brachytherapy in Carcinoma Cervix Completed NCT00193830 Phase 3
50 HDR Brachytherapy Combined With Interstitial Hyperthermia 500 kHz in Locally Advanced Cervical Cancer Patients. A Prospective Clinical Trial Completed NCT01474356 Phase 3

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

Inferred drug relations via UMLS 70 / NDF-RT 51 :


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
Prostate, Kidney, Uterus, Breast, Cervix, Liver, Heart

Publications for Hypoparathyroidism, Sensorineural Deafness, and Renal Disease

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

(show all 50)
# 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 57
21834031 2011
2
Germinal mosaicism of GATA3 in a family with HDR syndrome. 57 6
19253381 2009
3
HDR syndrome: a novel "de novo" mutation in GATA3 gene. 6 57
19248180 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. 57 6
17309062 2007
5
GATA3 abnormalities and the phenotypic spectrum of HDR syndrome. 57 6
11389161 2001
6
GATA3 haplo-insufficiency causes human HDR syndrome. 57 6
10935639 2000
7
Barakat syndrome revisited. 57 61
29663634 2018
8
Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract. 6
30143558 2018
9
HDR (Hypoparathyroidism, Deafness, Renal dysplasia) syndrome associated to GATA3 gene duplication. 57
19659764 2009
10
Identification of three novel mutations in the GATA3 gene responsible for familial hypoparathyroidism and deafness in the Chinese population. 6
16912130 2006
11
An HDR (hypoparathyroidism, deafness, renal dysplasia) syndrome locus maps distal to the DiGeorge syndrome region on 10p13/14. 57
10633131 2000
12
Recurrent cerebral infarctions and del(10)(p14p15.1) de novo in HDR (hypoparathyroidism, sensorineural deafness, renal dysplasia) syndrome. 57
10508983 1999
13
Partial DiGeorge syndrome in two patients with a 10p rearrangement. 57
10361989 1999
14
Autosomal dominant familial hypoparathyroidism and sensorineural deafness without renal dysplasia. 57
9916869 1998
15
HDR syndrome (hypoparathyroidism, sensorineural deafness, renal dysplasia) associated with del(10)(p13). 57
9415468 1997
16
Brief report: autosomal dominant familial hypoparathyroidism, sensorineural deafness, and renal dysplasia. 57
1522843 1992
17
Autosomal recessive hypoparathyroidism with renal insufficiency and developmental delay. 57
1719942 1991
18
Familial idiopathic hypoparathyroidism and progressive sensorineural deafness. 57
3961795 1986
19
Familial nephrosis, nerve deafness, and hypoparathyroidism. 57
874665 1977
20
Canadian national hypoparathyroidism registry: an overview of hypoparathyroidism in Canada. 61
33655415 2021
21
Novel heterozygous GATA3 and SLC34A3 variants in a 6-year-old boy with Barakat syndrome and hypercalciuria. 61
32155322 2020
22
Hyperkalemia Unveiled: A Case of Barakat Syndrome. 61
32269443 2020
23
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
24
HDR Syndrome Accompanying Type 1 Diabetes Mellitus and Hypopituitarism. 61
31223507 2019
25
HDR syndrome in a Colombian woman with a genital tract malformation: First case report in Latin America. 61
33111899 2018
26
A Unique Genomic Variant of HDR Syndrome in Newborn. 61
30218523 2018
27
HDR syndrome with a novel mutation in GATA3 mimicking a congenital X-linked stapes gusher: a case report. 61
29073906 2017
28
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
29
Barakat syndrome or HDR syndrome: Another association of kidney disease and deafness. 61
26651600 2016
30
Vitamin D deficiency in a patient with HDR syndrome. 61
26156834 2015
31
GATA3 controls the specification of prosensory domain and neuronal survival in the mouse cochlea. 61
23666531 2013
32
Seizure, deafness and renal agenesis: A rare case of barakat syndrome. 61
23661972 2013
33
Seizure, deafness, and renal failure: a case of barakat syndrome. 61
24527244 2013
34
Unique phenotype in a patient with CHARGE syndrome. 61
21995344 2011
35
HDR Syndrome (Hypoparathyroidism, Sensorineural Deafness and Renal Disease) Accompanied by Hirschsprung Disease. 61
23056694 2010
36
Phosphorylation status of nephrin in human membranous nephropathy. 54
19882202 2010
37
Expression of galectin-1, a new component of slit diaphragm, is altered in minimal change nephrotic syndrome. 54
19079321 2009
38
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
39
Concomitant hypoparathyroidism, sensorineural deafness, and renal agenesis: a case of Barakat syndrome. 61
18426329 2008
40
Decreased tyrosine phosphorylation of nephrin in rat and human nephrosis. 54
18256598 2008
41
Connecting the interpodocyte slit diaphragm and actin dynamics: Emerging role for the nephrin signaling complex. 54
18379524 2008
42
HDR syndrome (hypoparathyroidism, sensorineural deafness and renal disease) accompanied by renal tubular acidosis and endocrine abnormalities. 61
18520110 2008
43
Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders. 54
16912710 2006
44
Expression of alpha-actinin-4 in acquired human nephrotic syndrome: a quantitative immunoelectron microscopy study. 54
15031339 2004
45
[A genetic viewpoint of focal glomerular sclerosis: fom genes to glomerular pathophysiology [corrected]]. 54
14523896 2003
46
Retinoids regulate the repairing process of the podocytes in puromycin aminonucleoside-induced nephrotic rats. 54
12660332 2003
47
Increased expression of heparanase in puromycin aminonucleoside nephrosis. 54
11576343 2001
48
Expression of nephrin in pediatric kidney diseases. 54
11158218 2001
49
The renal glomerulus of mice lacking s-laminin/laminin beta 2: nephrosis despite molecular compensation by laminin beta 1. 54
7670489 1995
50
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 108)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GATA3 GATA3, 900-KB DEL Deletion Pathogenic 16619 GRCh37:
GRCh38:
2 GATA3 GATA3, 250-KB DEL Deletion Pathogenic 16620 GRCh37:
GRCh38:
3 GATA3 GATA3, 49-BP DEL, NT465-513 Deletion Pathogenic 16621 GRCh37:
GRCh38:
4 GATA3 GATA3, 12-BP DEL, NT946-957 Deletion Pathogenic 16622 GRCh37:
GRCh38:
5 GATA3 NM_001002295.2(GATA3):c.829C>T (p.Arg277Ter) SNV Pathogenic 16623 rs104894162 GRCh37: 10:8106006-8106006
GRCh38: 10:8064043-8064043
6 GATA3 NM_001002295.2(GATA3):c.823T>A (p.Trp275Arg) SNV Pathogenic 16624 rs104894163 GRCh37: 10:8106000-8106000
GRCh38: 10:8064037-8064037
7 GATA3 GATA3, 2-BP INS, 3-BP INS Insertion Pathogenic 16625 GRCh37:
GRCh38:
8 GATA3 NM_001002295.2(GATA3):c.431del (p.Gly144fs) Deletion Pathogenic 16627 rs1588377948 GRCh37: 10:8100452-8100452
GRCh38: 10:8058489-8058489
9 GATA3 NM_001002295.2(GATA3):c.478del (p.Asp160fs) Deletion Pathogenic 16628 rs1588378126 GRCh37: 10:8100503-8100503
GRCh38: 10:8058540-8058540
10 GATA3 NM_001002295.2(GATA3):c.1059A>T (p.Arg353Ser) SNV Pathogenic 16630 rs104894165 GRCh37: 10:8115710-8115710
GRCh38: 10:8073747-8073747
11 GATA3 NM_001002295.2(GATA3):c.108_109del (p.Met36fs) Deletion Pathogenic 29692 rs1588374920 GRCh37: 10:8097726-8097727
GRCh38: 10:8055763-8055764
12 GATA3 NM_001002295.2(GATA3):c.1025G>A (p.Cys342Tyr) SNV Pathogenic 29693 rs387906621 GRCh37: 10:8111536-8111536
GRCh38: 10:8069573-8069573
13 GATA3 NM_001002295.2(GATA3):c.681_682insACCACCCCATCAGCACTCACCCGCCCTACGTGCCC (p.Glu228fs) Insertion Pathogenic 236031 rs878853222 GRCh37: 10:8100690-8100691
GRCh38: 10:8058727-8058728
14 GATA3 NM_001002295.2(GATA3):c.708del (p.Ser237fs) Deletion Pathogenic 802559 rs771019738 GRCh37: 10:8100728-8100728
GRCh38: 10:8058765-8058765
15 GATA3 NM_001002295.2(GATA3):c.324del (p.Ala109fs) Deletion Pathogenic 694354 GRCh37: 10:8100349-8100349
GRCh38: 10:8058386-8058386
16 GATA3 NM_001002295.2(GATA3):c.961T>A (p.Cys321Ser) SNV Pathogenic 869468 GRCh37: 10:8111472-8111472
GRCh38: 10:8069509-8069509
17 GATA3 NM_001002295.2(GATA3):c.431dup (p.His145fs) Duplication Pathogenic 870395 GRCh37: 10:8100451-8100452
GRCh38: 10:8058488-8058489
18 GATA3 NM_001002295.2(GATA3):c.733delinsCC (p.Thr245fs) Indel Pathogenic 931057 GRCh37: 10:8100759-8100759
GRCh38: 10:8058796-8058796
19 GATA3 NM_001002295.2(GATA3):c.790T>A (p.Cys264Ser) SNV Pathogenic 975096 GRCh37: 10:8105967-8105967
GRCh38: 10:8064004-8064004
20 GATA3 NM_001002295.2(GATA3):c.1099C>T (p.Arg367Ter) SNV Pathogenic 16626 rs104894164 GRCh37: 10:8115750-8115750
GRCh38: 10:8073787-8073787
21 overlap with 74 genes Deletion Pathogenic 599307 GRCh37: 10:4689760-19120882
GRCh38:
22 GATA3 NM_001002295.2(GATA3):c.924+2delinsGCTTACTTCCC Indel Pathogenic 16629 rs387906551 GRCh37: 10:8106103-8106103
GRCh38: 10:8064140-8064140
23 GATA3 NM_001002295.2(GATA3):c.708dup (p.Ser237fs) Duplication Pathogenic 977148 GRCh37: 10:8100727-8100728
GRCh38: 10:8058764-8058765
24 GATA3 NM_001002295.2(GATA3):c.1058G>C (p.Arg353Thr) SNV Likely pathogenic 585128 rs1564405163 GRCh37: 10:8115709-8115709
GRCh38: 10:8073746-8073746
25 GATA3 NM_001002295.2(GATA3):c.1262C>T (p.Thr421Met) SNV Likely pathogenic 974707 rs374919553 GRCh37: 10:8115913-8115913
GRCh38: 10:8073950-8073950
26 GATA3 NM_001002295.2(GATA3):c.-80C>T SNV Uncertain significance 880280 GRCh37: 10:8097539-8097539
GRCh38: 10:8055576-8055576
27 GATA3 NM_001002295.2(GATA3):c.1173G>A (p.Ser391=) SNV Uncertain significance 880323 GRCh37: 10:8115824-8115824
GRCh38: 10:8073861-8073861
28 GATA3 NM_001002295.2(GATA3):c.-40G>A SNV Uncertain significance 877498 GRCh37: 10:8097579-8097579
GRCh38: 10:8055616-8055616
29 GATA3 NM_001002295.2(GATA3):c.990G>A (p.Arg330=) SNV Uncertain significance 879112 GRCh37: 10:8111501-8111501
GRCh38: 10:8069538-8069538
30 GATA3 NM_001002295.2(GATA3):c.*747G>A SNV Uncertain significance 879164 GRCh37: 10:8116733-8116733
GRCh38: 10:8074770-8074770
31 GATA3 NM_001002295.2(GATA3):c.*863T>A SNV Uncertain significance 879165 GRCh37: 10:8116849-8116849
GRCh38: 10:8074886-8074886
32 GATA3 NM_001002295.2(GATA3):c.257G>A (p.Arg86His) SNV Uncertain significance 996142 GRCh37: 10:8100283-8100283
GRCh38: 10:8058320-8058320
33 GATA3 NM_001002295.2(GATA3):c.605G>A (p.Arg202His) SNV Uncertain significance 977078 GRCh37: 10:8100631-8100631
GRCh38: 10:8058668-8058668
34 GATA3 NM_001002295.2(GATA3):c.71C>T (p.Pro24Leu) SNV Uncertain significance 1034340 GRCh37: 10:8097689-8097689
GRCh38: 10:8055726-8055726
35 GATA3 NM_001002295.2(GATA3):c.1058G>A (p.Arg353Lys) SNV Uncertain significance 802560 rs1564405163 GRCh37: 10:8115709-8115709
GRCh38: 10:8073746-8073746
36 GATA3 NM_001002295.2(GATA3):c.1266G>A (p.Pro422=) SNV Uncertain significance 301129 rs541782074 GRCh37: 10:8115917-8115917
GRCh38: 10:8073954-8073954
37 GATA3 NM_001002295.2(GATA3):c.*105A>G SNV Uncertain significance 301132 rs886047300 GRCh37: 10:8116091-8116091
GRCh38: 10:8074128-8074128
38 GATA3 NM_001002295.2(GATA3):c.*1029C>T SNV Uncertain significance 301149 rs530772797 GRCh37: 10:8117015-8117015
GRCh38: 10:8075052-8075052
39 GATA3 NM_001002295.2(GATA3):c.*320T>C SNV Uncertain significance 877545 GRCh37: 10:8116306-8116306
GRCh38: 10:8074343-8074343
40 GATA3 NM_001002295.2(GATA3):c.*383T>G SNV Uncertain significance 877546 GRCh37: 10:8116369-8116369
GRCh38: 10:8074406-8074406
41 GATA3 NM_001002295.2(GATA3):c.327C>T (p.Ala109=) SNV Uncertain significance 878524 GRCh37: 10:8100353-8100353
GRCh38: 10:8058390-8058390
42 GATA3 NM_001002295.2(GATA3):c.489G>A (p.Pro163=) SNV Uncertain significance 878525 GRCh37: 10:8100515-8100515
GRCh38: 10:8058552-8058552
43 GATA3 NM_001002295.2(GATA3):c.492C>T (p.Asp164=) SNV Uncertain significance 878526 GRCh37: 10:8100518-8100518
GRCh38: 10:8058555-8058555
44 GATA3 NM_001002295.2(GATA3):c.*588C>A SNV Uncertain significance 878568 GRCh37: 10:8116574-8116574
GRCh38: 10:8074611-8074611
45 GATA3 NM_001002295.2(GATA3):c.*592G>A SNV Uncertain significance 878569 GRCh37: 10:8116578-8116578
GRCh38: 10:8074615-8074615
46 GATA3 NM_001002295.2(GATA3):c.*598G>A SNV Uncertain significance 878570 GRCh37: 10:8116584-8116584
GRCh38: 10:8074621-8074621
47 GATA3 NM_001002295.2(GATA3):c.*656G>A SNV Uncertain significance 878571 GRCh37: 10:8116642-8116642
GRCh38: 10:8074679-8074679
48 GATA3 NM_001002295.2(GATA3):c.-561G>T SNV Uncertain significance 879061 GRCh37: 10:8096663-8096663
GRCh38: 10:8054700-8054700
49 GATA3 NM_001002295.2(GATA3):c.-495G>C SNV Uncertain significance 879062 GRCh37: 10:8096729-8096729
GRCh38: 10:8054766-8054766
50 GATA3 NM_001002295.2(GATA3):c.706C>A (p.Pro236Thr) SNV Uncertain significance 879110 GRCh37: 10:8100732-8100732
GRCh38: 10:8058769-8058769

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

72
# 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 9.5 PTH GCM2 CASR
2 excretion GO:0007588 9.37 NPHS2 NPHS1
3 positive regulation of signal transduction GO:0009967 9.26 PTH GATA3
4 response to fibroblast growth factor GO:0071774 9.16 PTH CASR
5 parathyroid gland development GO:0060017 8.96 GCM2 GATA3
6 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 integrin binding GO:0005178 8.8 LAMB2 CASR 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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