MCID: HYP291
MIFTS: 46

Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia

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

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

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

Name: Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia 54 13
Barakat Syndrome 56 71 29 69
Nephrosis 42 69
Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia Syndrome 71
Hypoparathyroidism, Sensorineural Deafness, and Renal Disease 71
Hypoparathyroidism-Deafness-Renal Disease Syndrome 56
Nephrosis, Nerve Deafness, and Hypoparathyroidism 71
Nephrotic Syndrome 69
Hdr Syndrome 56
Hdr 71

Characteristics:

Orphanet epidemiological data:

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

OMIM:

54
Inheritance:
autosomal dominant


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 : 71 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 calcinosis and lipoid nephrosis, and has symptoms including renal dysplasia, nephrotic syndrome and sensorineural hearing impairment. 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. Affiliated tissues include uterus and kidney, 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 39)
id Related Disease Score Top Affiliating Genes
1 calcinosis 29.5 NPHS1 NPHS2
2 lipoid nephrosis 12.0
3 nephrosis with deafness and urinary tract and digital malformations 11.9
4 nephrotic syndrome 11.6
5 ventriculomegaly with cystic kidney disease 11.4
6 pierson syndrome 11.3
7 hypoparathyroidism-deafness-renal disease syndrome 11.2
8 galloway-mowat syndrome 11.2
9 kidney disease 11.1
10 nephrotic syndrome, type 1 11.0
11 congenital nephrotic syndrome finnish type 10.9
12 glomerulosclerosis, focal segmental, 4 10.7
13 hypoparathyroidism 10.5
14 renal dysplasia 10.5
15 renal hypoplasia 10.3 NPHS1 NPHS2
16 cardiomyopathy, dilated, 1ee 10.3 NPHS1 NPHS2
17 sarcocystosis 10.2 NPHS1 NPHS2
18 nephrotic syndrome, type 4 10.2 NPHS1 NPHS2
19 spastic monoplegia 10.1 NPHS1 NPHS2
20 corneal dystrophy, fuchs endothelial, 8 10.1 ACTN4 NPHS2
21 prostate neuroendocrine neoplasm 10.1 NPHS1 NPHS2
22 cholangitis, primary sclerosing 10.0 LAMB2 NPHS2
23 cerebritis 10.0
24 proliferative glomerulonephritis 10.0
25 glomerulonephritis 10.0
26 nasopharyngeal carcinoma 2 10.0 NPHS1 NPHS2
27 chronic myelomonocytic leukemia 10.0 NPHS1 NPHS2
28 peripheral nervous system neoplasm 10.0 GATA3 LAMB2
29 exocrine pancreatic insufficiency 9.9 NPHS1 NPHS2
30 congenital pulmonary alveolar proteinosis 9.8 ACTN4 NPHS1 NPHS2
31 female stress incontinence 9.8 ACTN4 NPHS1 NPHS2
32 hyperferritinemia-cataract syndrome 9.8 ACTN4 NPHS1 NPHS2
33 meacham syndrome 9.8 ACTN4 NPHS1 NPHS2
34 hyperbiliverdinemia 9.7 ACTN4 NPHS1 NPHS2
35 digestive system melanoma 9.7 LAMB2 NPHS1 NPHS2
36 inhibited male orgasm 9.7 ACTN4 NPHS1 NPHS2
37 transient refractive change 9.2 ACTN4 LAMB2 NPHS1 NPHS2
38 gas gangrene 9.2 ACTN4 LAMB2 NPHS1 NPHS2
39 46xy sex reversal 8 7.5 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 via clinical synopsis from OMIM:

54

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

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

Endocrine Features:
hypoparathyroidism

Head And Neck- Ears:
deafness, sensorineural


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 renal dysplasia 32 HP:0000110
2 nephrotic syndrome 32 HP:0000100
3 sensorineural hearing impairment 32 HP:0000407
4 chronic kidney disease 32 HP:0012622
5 hypoparathyroidism 32 HP:0000829
6 septate vagina 32 occasional (7.5%) HP:0001153
7 thickening of the glomerular basement membrane 32 HP:0004722
8 uterus didelphys 32 occasional (7.5%) HP:0003762

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 NPHS2 ACTN4 GATA3 HPSE NEU1
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

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
Uterus, Kidney

Publications for Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia

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

id Title Authors Year
1
Unusual Proliferative Glomerulonephritis in a Patient Diagnosed to Have Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia (HDR) Syndrome with a Novel Mutation in the GATA3 Gene. ( 28566604 )
2017
2
A Novel De novo GATA-binding Protein 3 Mutation in a Patient with Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia Syndrome. ( 28524840 )
2017
3
Tumoral calcinosis in a patient with hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome undergoing hemodialysis. ( 25767699 )
2015
4
The Syndrome of Familial Hypoparathyroidism, Sensorineural Deafness and Renal Dysplasia. ( 26710407 )
2015
5
Neonatal diagnosis of a patient with hypoparathyroidism, sensorineural deafness and renal dysplasia (HDR) syndrome associated with cerebral infarction. ( 24859509 )
2014
6
Ahsa1 and Hsp90 activity confers more severe craniofacial phenotypes in a zebrafish model of hypoparathyroidism, sensorineural deafness and renal dysplasia (HDR). ( 23720234 )
2013
7
Familial idiopathic hypoparathyroidism, sensorineural deafness and renal dysplasia. ( 11300141 )
2001
8
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:

71
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 GATA3, 1-BP DEL, 478G deletion Pathogenic
2 GATA3 NM_001002295.1(GATA3): c.924+2delTinsGCTTACTTCCC indel Pathogenic rs387906551 GRCh37 Chromosome 10, 8106103: 8106103
3 GATA3 NM_001002295.1(GATA3): c.1099C> T (p.Arg367Ter) single nucleotide variant Pathogenic rs104894164 GRCh38 Chromosome 10, 8073787: 8073787
4 GATA3 GATA3, 1-BP DEL, 431G deletion Pathogenic
5 GATA3 GATA3, 900-KB DEL deletion Pathogenic
6 GATA3 GATA3, 250-KB DEL deletion Pathogenic
7 GATA3 GATA3, 49-BP DEL, NT465-513 deletion Pathogenic
8 GATA3 GATA3, 12-BP DEL, NT946-957 deletion Pathogenic
9 GATA3 NM_001002295.1(GATA3): c.829C> T (p.Arg277Ter) single nucleotide variant Pathogenic rs104894162 GRCh37 Chromosome 10, 8106006: 8106006
10 GATA3 NM_001002295.1(GATA3): c.823T> A (p.Trp275Arg) single nucleotide variant Pathogenic rs104894163 GRCh37 Chromosome 10, 8106000: 8106000
11 GATA3 GATA3, 2-BP INS, 3-BP INS insertion Pathogenic
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 9.26 GATA3 HPSE
2 excretion GO:0007588 9.16 NPHS1 NPHS2
3 axon guidance GO:0007411 8.96 GATA3 LAMB2
4 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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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