HDR
MCID: HYP291
MIFTS: 49

Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia (HDR) malady

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

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

Aliases & Descriptions for Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia:

Name: Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia 54 13
Barakat Syndrome 24 56 66 29 69
Hypoparathyroidism, Sensorineural Deafness, and Renal Disease 54 24 66
Nephrosis 42 69
Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia Syndrome 66
Hypoparathyroidism-Deafness-Renal Disease Syndrome 56
Nephrosis, Nerve Deafness, and Hypoparathyroidism 66
Nephrotic Syndrome 69
Hrd Syndrome 24
Hdr Syndrome 56
Hdr 66

Characteristics:

Orphanet epidemiological data:

56
hypoparathyroidism-deafness-renal disease syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

HPO:

32
hypoparathyroidism, sensorineural deafness, and renal dysplasia:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 146255
Orphanet 56 ORPHA2237
UMLS via Orphanet 70 C1840333
ICD10 via Orphanet 34 Q87.8
MedGen 40 C1840333

Summaries for Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia

UniProtKB/Swiss-Prot : 66 Hypoparathyroidism, sensorineural deafness, and renal disease: A disease characterized by steroid-resistant nephrosis with progressive renal failure, hypoparathyroidism, sensorineural deafness, and renal dysplasia.

MalaCards based summary : Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia, also known as barakat syndrome, is related to familial nephrotic syndrome and calcinosis, and has symptoms including sensorineural hearing impairment, nephrotic syndrome and hypoparathyroidism. An important gene associated with Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia is GATA3 (GATA Binding Protein 3), and among its related pathways/superpathways are Amoebiasis and Primary Focal Segmental Glomerulosclerosis FSGS. The drugs Cyclosporine and Methylprednisolone have been mentioned in the context of this disorder. Affiliated tissues include kidney and uterus, and related phenotypes are cardiovascular system and homeostasis/metabolism

Description from OMIM: 146255

Related Diseases for Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia

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

(show all 40)
id Related Disease Score Top Affiliating Genes
1 familial nephrotic syndrome 31.3 NPHS1 NPHS2
2 calcinosis 30.0 NPHS1 NPHS2
3 lipoid nephrosis 12.0
4 nephrosis with deafness and urinary tract and digital malformations 11.9
5 nephrotic syndrome 11.6
6 ventriculomegaly with cystic kidney disease 11.4
7 pierson syndrome 11.3
8 hypoparathyroidism-deafness-renal disease syndrome 11.2
9 galloway-mowat syndrome 11.2
10 kidney disease 11.1
11 nephrotic syndrome, type 1 11.1
12 congenital nephrotic syndrome finnish type 10.9
13 hypoparathyroidism-retardation-dysmorphism syndrome 10.9
14 hypoparathyroidism-intellectual disability-dysmorphism syndrome 10.8
15 glomerulosclerosis, focal segmental, 4 10.7
16 renal dysplasia 10.4
17 hypoparathyroidism 10.4
18 pauci-immune glomerulonephritis 10.1 NPHS1 NPHS2
19 sick sinus syndrome 3 10.1 NPHS1 NPHS2
20 aphthous stomatitis 10.1 NPHS1 NPHS2
21 frasier syndrome 10.1 NPHS1 NPHS2
22 hemiplegia 10.1 NPHS1 NPHS2
23 hypertrichosis of eyelid 10.1 NPHS1 NPHS2
24 cholangitis, primary sclerosing 10.0 LAMB2 NPHS2
25 mixed germ cell-sex cord neoplasm 10.0 NPHS1 NPHS2
26 cerebritis 10.0
27 peripheral nervous system neoplasm 10.0 GATA3 LAMB2
28 congenital torticollis 9.9 ACTN4 NPHS1 NPHS2
29 deafness, autosomal recessive 51 9.9 ACTN4 NPHS1 NPHS2
30 acral persistent papular mucinosis 9.9 ACTN4 NPHS1 NPHS2
31 cerebral cavernous malformations-2 9.9 ACTN4 NPHS1 NPHS2
32 biliary cirrhosis, primary, 2 9.9 NPHS1 NPHS2
33 diprosopia 9.9 LAMB2 NPHS1 NPHS2
34 lung giant cell carcinoma 9.9 ACTN4 NPHS1 NPHS2
35 focal segmental glomerulosclerosis 9.7 ACTN4 LAMB2 NPHS1 NPHS2
36 malignant hyperthermia susceptibility 1 9.7 ACTN4 LAMB2 NPHS1 NPHS2
37 hypothyroidism, congenital, nongoitrous, 3 9.7 ACTN4 LAMB2 NPHS1 NPHS2
38 gastric cancer 9.7 ACTN4 LAMB2 NPHS1 NPHS2
39 transient refractive change 9.7 ACTN4 LAMB2 NPHS1 NPHS2
40 glaucoma 1, open angle, e 9.0 ACTN4 GATA3 HPSE LAMB2 NEU1 NPHS1

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



Diseases related to Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia

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

Symptoms by clinical synopsis from OMIM:

146255

Clinical features from OMIM:

146255

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

32 (show all 8)
id Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 32 HP:0000407
2 nephrotic syndrome 32 HP:0000100
3 hypoparathyroidism 32 HP:0000829
4 renal dysplasia 32 HP:0000110
5 uterus didelphys 32 HP:0003762
6 septate vagina 32 HP:0001153
7 chronic kidney disease 32 HP:0012622
8 thickening of the glomerular basement membrane 32 HP:0004722

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

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.65 ACTN4 GATA3 HPSE NEU1 NPHS2
2 homeostasis/metabolism MP:0005376 9.63 ACTN4 GATA3 LAMB2 NEU1 NPHS1 NPHS2
3 mortality/aging MP:0010768 9.43 ACTN4 GATA3 LAMB2 NEU1 NPHS1 NPHS2
4 renal/urinary system MP:0005367 9.1 ACTN4 GATA3 LAMB2 NEU1 NPHS1 NPHS2

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

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

(show top 50) (show all 190)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cyclosporine Approved, Investigational, Vet_approved Phase 4,Phase 2 79217-60-0, 59865-13-3 5284373 6435893
2
Methylprednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2 83-43-2 6741
3
Mycophenolate mofetil Approved, Investigational Phase 4,Phase 3 128794-94-5 5281078
4
Mycophenolic acid Approved Phase 4,Phase 3 24280-93-1 446541
5
Prednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2 50-24-8 5755
6
Prednisone Approved, Vet_approved Phase 4,Phase 3,Phase 2 53-03-2 5865
7
Cosyntropin Approved Phase 4 16960-16-0 16129617
8
Epinephrine Approved, Vet_approved Phase 4,Phase 2 51-43-4 5816
9
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 5754 657311
10
rituximab Approved Phase 4,Phase 2,Phase 3 174722-31-7 10201696
11
Tacrolimus Approved, Investigational Phase 4,Phase 3,Phase 2 104987-11-3 445643 439492
12
Acetazolamide Approved, Vet_approved Phase 4 59-66-5 1986
13
Furosemide Approved, Vet_approved Phase 4 54-31-9 3440
14
Hydrochlorothiazide Approved, Vet_approved Phase 4 58-93-5 3639
15
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 2 22916-47-8 4189
16
Pravastatin Approved Phase 4,Phase 1 81093-37-0 54687
17
Entecavir Approved, Investigational Phase 4 142217-69-4 153941
18
Cholecalciferol Approved, Nutraceutical Phase 4 67-97-0 6221 10883523 5280795
19
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
20
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 11103-57-4, 68-26-8 445354
21
Vitamin E Approved, Nutraceutical, Vet_approved Phase 4 59-02-9 14985
22 Heptavalent Pneumococcal Conjugate Vaccine Phase 4
23 Methylprednisolone acetate Phase 4,Phase 3,Phase 2
24 Methylprednisolone Hemisuccinate Phase 4,Phase 3,Phase 2
25 Prednisolone acetate Phase 4,Phase 3,Phase 2
26 Prednisolone hemisuccinate Phase 4,Phase 3,Phase 2
27 Prednisolone phosphate Phase 4,Phase 3,Phase 2
28 Vaccines Phase 4
29 Anti-Bacterial Agents Phase 4,Phase 3,Phase 2
30 Antibiotics, Antitubercular Phase 4,Phase 3,Phase 2
31 Immunosuppressive Agents Phase 4,Phase 3,Phase 2
32 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 2
33 Antineoplastic Agents, Hormonal Phase 4,Phase 3,Phase 2
34 glucocorticoids Phase 4,Phase 3,Phase 2
35 Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1
36 Hormones Phase 4,Phase 3,Phase 2,Phase 1
37 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1
38 Antiemetics Phase 4,Phase 3,Phase 2
39 Autonomic Agents Phase 4,Phase 3,Phase 2
40 Gastrointestinal Agents Phase 4,Phase 3,Phase 2
41 Neuroprotective Agents Phase 4,Phase 3
42 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2
43 Protective Agents Phase 4,Phase 3
44 Cortisol succinate Phase 4
45 Epinephryl borate Phase 4,Phase 2
46 Hydrocortisone 17-butyrate 21-propionate Phase 4
47 Hydrocortisone acetate Phase 4
48 Racepinephrine Phase 4,Phase 2
49 Antirheumatic Agents Phase 4,Phase 2,Phase 3
50 Calcineurin Inhibitors Phase 4,Phase 2,Phase 3

Interventional clinical trials:

(show top 50) (show all 108)
id Name Status NCT ID Phase
1 Study of 7-valent Pneumococcal Conjugate Vaccine in Children With Idiopathic Nephrotic Syndrome Unknown status NCT01346007 Phase 4
2 Mycophenolate Mofetil in Pediatric Steroid Dependent Nephrotic Syndrome Unknown status NCT01895894 Phase 4
3 Low Dose Steroids in the Treatment of Nephrotic Syndrome Relapse Unknown status NCT02216747 Phase 4
4 Long Term Tapering or Standard Steroids for Nephrotic Syndrome Unknown status NCT00308321 Phase 4
5 Determination of Method-specific Normal Cortisol and Adrenal Hormone Responses to the Short Synacthen Test Unknown status NCT00851942 Phase 4
6 Therapeutic Effect of Tacrolimus on Primary Nephrotic Syndrome in Children Completed NCT01162005 Phase 4
7 Treatment of Resistant Nephrotic Syndrome With ACTH Gel (ACTHAR) Completed NCT01129284 Phase 4
8 Urinary Aquaporin 2 and Expression of the NPHS2 Gene in Adults Suffering From Nephrotic Syndrome Completed NCT00286910 Phase 4
9 Prospective Study Evaluating the Effect of Repository Corticotropin in the Treatment of Various Nephrotic Syndromes Completed NCT01021540 Phase 4
10 Role of Acetazolamide and Hydrochlorothiazide Followed by Furosemide in Treating Nephrotic Edema Completed NCT02427880 Phase 4
11 Acthar for Treatment of Proteinuria in Membranous Nephropathy Patients Completed NCT01386554 Phase 4
12 Adrenocorticotropic Hormone (ACTH) Treatment of Nephrotic Range Proteinuria in Diabetic Nephropathy (NRDN) Completed NCT01028287 Phase 4
13 HSP-glomerulonephritis Trial: MP vs CyA Completed NCT00425724 Phase 4
14 Myfortic® for Minimal Change Nephrotic Syndrome (MCNS): a Randomized Study Recruiting NCT01185197 Phase 4
15 Efficacy and Safety of Rituximab to That of Calcineurin Inhibitors in Children With Steroid Resistant Nephrotic Syndrome Recruiting NCT02382575 Phase 4
16 Tacrolimus Versus Prednisolone for the Treatment of Minimal Change Disease Recruiting NCT00982072 Phase 4
17 Tacrolimus Combined With Entecavir on HBV Associated Glomerulonephritis(HBV-GN) Recruiting NCT03062813 Phase 4
18 Efficacy of Usual Vitamin D Supplementation and Its Impact on Children and Adolescents Calciuria. Recruiting NCT02238418 Phase 4
19 Mycophenolate Mofetil Plus Steroid in the Treatment Of Patients With Progressive Idiopathic Membranous Nephropathy Recruiting NCT03170323 Phase 4
20 A Study to Evaluate the Effect of Tacrolimus and Corticosteroid Combination Therapy in Patients With Minimal Change Nephrotic Syndrome Active, not recruiting NCT01763580 Phase 4
21 Mycophenolate Mofetil and Tacrolimus Versus Tacrolimus for the Treatment of Idiopathic Membranous Glomerulonephritis (IMG) Active, not recruiting NCT00843856 Phase 4
22 Adjusted Steroids Therapy in Childerens With Idiopathic Nephrotic Syndrome Not yet recruiting NCT02649413 Phase 4
23 Anti-Oxidant Therapy In Chronic Renal Insufficiency (ATIC) Study Terminated NCT00384618 Phase 4
24 Rituximab Trial for Pediatric Nephrotic Syndrome Unknown status NCT01716442 Phase 2, Phase 3
25 Efficacy of Rituximab For the Treatment of Calcineurin Inhibitors Dependent Nephrotic Syndrome During Childhood Completed NCT01268033 Phase 2, Phase 3
26 Efficacy of Pentoxifylline on Primary Nephrotic Syndrome Completed NCT00354731 Phase 3
27 Cyclophosphamide Versus Mycophenolate Mofetil for the Treatment of Steroid-dependent Nephrotic Syndrome in Children Completed NCT01092962 Phase 3
28 Evaluation of Low Dose Corticosteroids Efficiency, Associated With Myfortic ® in the Treatment of Nephrotic Syndrome Completed NCT01197040 Phase 3
29 Efficacy and Safety of Rituximab to That of Calcineurin Inhibitors in Children With Steroid Dependent Nephrotic Syndrome Completed NCT02438982 Phase 3
30 The Efficacy and Tolerance of Tacrolimus Sustained-release Capsules on Refractory Nephrotic Syndrome (RNS) Completed NCT01309477 Phase 3
31 Tacrolimus Combined With Prednisone Treatment of Idiopathic Membranous Nephropathy and Nephrotic Syndrome Completed NCT00362531 Phase 2, Phase 3
32 Prospective, Multicenter Study of the Efficacy and Tolerance of Tacrolimus on Refractory Nephrotic Syndrome (RNS) Completed NCT00615667 Phase 3
33 Rituximab in Multirelapsing Minimal Change Disease (MCD) or Focal Segmental Glomerulosclerosis (FSGS) Completed NCT00981838 Phase 3
34 Steroid Treatment for Kidney Disease Completed NCT00065611 Phase 3
35 Therapeutic Effect of Tacrolimus in Combination With Low Dose Corticosteroid in Adult Patient With Minimal Change Nephritic Syndrome Completed NCT01084980 Phase 2, Phase 3
36 Study of the Safety and Efficacy of NC-503 in Secondary (AA) Amyloidosis Completed NCT00035334 Phase 2, Phase 3
37 Rituximab in Membranous Nephropathy Completed NCT00425217 Phase 2, Phase 3
38 Adrenocorticotropic Hormone (ACTH) for Frequently Relapsing and Steroid Dependent Nephrotic Syndrome Recruiting NCT02132195 Phase 3
39 A Study to Evaluate the Efficacy and Safety of Mizoribine in the Treatment of Refractory Nephrotic Syndrome Recruiting NCT02257697 Phase 3
40 Prednisolone Trial in Children Younger Than 4 Years Recruiting NCT03141970 Phase 3
41 Rituximab Versus Steroids and Cyclophosphamide in the Treatment of Idiopathic Membranous Nephropathy Recruiting NCT03018535 Phase 3
42 Evaluate Rituximab Treatment for Idiopathic Membranous Nephropathy Active, not recruiting NCT01508468 Phase 3
43 Efficiency of Levamisole for Maintaining Remission After the First Flare of Steroid Sensitive Nephrotic Syndrome in Children Not yet recruiting NCT02818738 Phase 3
44 Valproic Acid for Idiopathic Nephrotic Syndrome Not yet recruiting NCT02896270 Phase 2, Phase 3
45 Randomized Trial Comparing Rituximab Against Mycophenolate Mofetil in Children Wtih Refractory Nephrotic Syndrome Terminated NCT02390362 Phase 3
46 IL-2 for Multi Drug Resistant Nephrotic Syndrome Completed NCT02455908 Phase 1, Phase 2
47 Drug Therapy in Lupus Nephropathy Completed NCT00001212 Phase 2
48 Once-A-Month Steroid Treatment for Patients With Focal Segmental Glomerulosclerosis Completed NCT00004990 Phase 2
49 Pirfenidone to Treat Kidney Disease (Focal Segmental Glomerulosclerosis) Completed NCT00001959 Phase 2
50 Temozolomide Plus Bevacizumab in Supratentorial Glioblastoma in 70 Years and Older Patients With an Impaired Functional Status Completed NCT02898012 Phase 2

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

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Cochrane evidence based reviews: nephrosis

Genetic Tests for Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia

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

id Genetic test Affiliating Genes
1 Barakat Syndrome 29
2 Hypoparathyroidism, Sensorineural Deafness, and Renal Disease 24 GATA3

Anatomical Context for Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia

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

39
Kidney, Uterus

Publications for Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia

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

id Title Authors Year
1
A Novel De novo GATA-binding Protein 3 Mutation in a Patient with Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia Syndrome. ( 28524840 )
2017
2
The Syndrome of Familial Hypoparathyroidism, Sensorineural Deafness and Renal Dysplasia. ( 26710407 )
2015
3
Tumoral calcinosis in a patient with hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome undergoing hemodialysis. ( 25767699 )
2015
4
Neonatal diagnosis of a patient with hypoparathyroidism, sensorineural deafness and renal dysplasia (HDR) syndrome associated with cerebral infarction. ( 24859509 )
2014
5
Ahsa1 and Hsp90 activity confers more severe craniofacial phenotypes in a zebrafish model of hypoparathyroidism, sensorineural deafness and renal dysplasia (HDR). ( 23720234 )
2013
6
Familial idiopathic hypoparathyroidism, sensorineural deafness and renal dysplasia. ( 11300141 )
2001
7
Brief report: autosomal dominant familial hypoparathyroidism, sensorineural deafness, and renal dysplasia. ( 1522843 )
1992

Variations for Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia

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

66
id Symbol AA change Variation ID SNP ID
1 GATA3 p.Trp274Arg VAR_017818 rs104894163
2 GATA3 p.Arg298Gln VAR_075427

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

6 (show all 15)
id Gene Variation Type Significance SNP ID Assembly Location
1 GATA3 NM_001002295.1(GATA3): c.1099C> T (p.Arg367Ter) single nucleotide variant Pathogenic rs104894164 GRCh38 Chromosome 10, 8073787: 8073787
2 GATA3 GATA3, 1-BP DEL, 431G deletion Pathogenic
3 GATA3 GATA3, 1-BP DEL, 478G deletion Pathogenic
4 GATA3 GATA3, 900-KB DEL deletion Pathogenic
5 GATA3 GATA3, 250-KB DEL deletion Pathogenic
6 GATA3 GATA3, 49-BP DEL, NT465-513 deletion Pathogenic
7 GATA3 GATA3, 12-BP DEL, NT946-957 deletion Pathogenic
8 GATA3 NM_001002295.1(GATA3): c.829C> T (p.Arg277Ter) single nucleotide variant Pathogenic rs104894162 GRCh37 Chromosome 10, 8106006: 8106006
9 GATA3 NM_001002295.1(GATA3): c.823T> A (p.Trp275Arg) single nucleotide variant Pathogenic rs104894163 GRCh37 Chromosome 10, 8106000: 8106000
10 GATA3 GATA3, 2-BP INS, 3-BP INS insertion Pathogenic
11 GATA3 NM_001002295.1(GATA3): c.924+2delTinsGCTTACTTCCC indel Pathogenic rs387906551 GRCh37 Chromosome 10, 8106103: 8106103
12 GATA3 NM_001002295.1(GATA3): c.1059A> T (p.Arg353Ser) single nucleotide variant Pathogenic rs104894165 GRCh37 Chromosome 10, 8115710: 8115710
13 GATA3 GATA3, 2-BP DEL, 108GG deletion Pathogenic
14 GATA3 NM_001002295.1(GATA3): c.1025G> A (p.Cys342Tyr) single nucleotide variant Pathogenic rs387906621 GRCh37 Chromosome 10, 8111536: 8111536
15 GATA3 NM_001002295.1(GATA3) insertion Pathogenic rs878853222 GRCh37 Chromosome 10, 8100707: 8100708

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

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

Expression for Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia

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

Pathways for Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia

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

id Super pathways Score Top Affiliating Genes
1 11.24 ACTN4 LAMB2
2 10.79 ACTN4 LAMB2 NPHS1 NPHS2
3 10.57 NPHS1 NPHS2
4 10.3 ACTN4 NPHS1

GO Terms for Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia

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

id Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.65 ACTN4 LAMB2 NEU1 NPHS1 NPHS2
2 lysosomal lumen GO:0043202 9.16 HPSE NEU1
3 specific granule lumen GO:0035580 8.96 HPSE NEU1
4 slit diaphragm GO:0036057 8.62 NPHS1 NPHS2

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

id Name GO ID Score Top Affiliating Genes
1 positive regulation of protein kinase B signaling GO:0051897 9.16 GATA3 HPSE
2 excretion GO:0007588 8.96 NPHS1 NPHS2
3 metanephric glomerular visceral epithelial cell development GO:0072249 8.62 LAMB2 NPHS2

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

id Name GO ID Score Top Affiliating Genes
1 integrin binding GO:0005178 8.96 ACTN4 LAMB2
2 hydrolase activity, acting on glycosyl bonds GO:0016798 8.62 HPSE NEU1

Sources for Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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