Hypoparathyroidism - deafness - renal disease

General Information (adopted from Orphanet):

Synonyms, Signs: NEPHROSIS, NERVE DEAFNESS, AND HYPOPARATHYROIDISM
HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA SYNDROME
HDR
HDRS
barakat syndrome
HDR syndrome
Number of Symptoms 36
OrphanetNr: 2237
OMIM Id: 146255
ICD-10: Q87.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 12 cases [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Partial deletion of the short arm of chromosome 10
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Syndrome with hypoparathyroidism
 -Rare endocrine disease
 -Rare genetic disease
Syndromic genetic deafness
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare otorhinolaryngologic disease
Syndromic renal or urinary tract malformation
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare renal disease

Symptom Information: Sort by abundance 

1
 (HPO:0001153) Septate vagina rare [HPO:skoehler] 6 / 7739
2
 (HPO:0000100) Nephrotic syndrome 83 / 7739
3
 (HPO:0010958) Bilateral renal agenesis 16 / 7739
4
 (HPO:0000790) Hematuria Occasional [Orphanet] 106 / 7739
5
 (HPO:0000110) Renal dysplasia 44 / 7739
6
 (HPO:0000089) Renal hypoplasia 78 / 7739
7
 (HPO:0008678) Renal hypoplasia/aplasia Frequent [Orphanet] 127 / 7739
8
 (HPO:0000104) Renal agenesis 68 / 7739
9
 (HPO:0004722) Thickening of the glomerular basement membrane 12 / 7739
10
 (HPO:0003762) Uterus didelphys rare [HPO:skoehler] 8 / 7739
11
 (HPO:0000093) Proteinuria Occasional [Orphanet] 169 / 7739
12
 (HPO:0012622) Chronic kidney disease 32 / 7739
13
 (HPO:0000122) Unilateral renal agenesis 24 / 7739
14
 (HPO:0000083) Renal insufficiency Occasional [Orphanet] 232 / 7739
15
 (HPO:0100542) Abnormal localization of kidney Occasional [Orphanet] 64 / 7739
16
 (HPO:0000130) Abnormality of the uterus 86 / 7739
17
 (HPO:0000076) Vesicoureteral reflux Occasional [Orphanet] 94 / 7739
18
 (HPO:0000107) Renal cyst Occasional [Orphanet] 126 / 7739
19
 (HPO:0000639) Nystagmus Occasional [Orphanet] 555 / 7739
20
 (HPO:0000510) Rod-cone dystrophy Occasional [Orphanet] 266 / 7739
21
 (HPO:0000508) Ptosis Occasional [Orphanet] 459 / 7739
22
 (HPO:0008625) Severe sensorineural hearing impairment 150 / 7739
23
 (HPO:0008527) Congenital sensorineural hearing impairment 165 / 7739
24
 (HPO:0000407) Sensorineural hearing impairment Very frequent [Orphanet] 524 / 7739
25
 (HPO:0100851) Abnormal emotion/affect behavior Frequent [Orphanet] 85 / 7739
26
 (HPO:0001250) Seizures Frequent [Orphanet] 1245 / 7739
27
 (HPO:0000829) Hypoparathyroidism Very frequent [Orphanet] 22 / 7739
28
 (HPO:0002021) Pyloric stenosis Occasional [Orphanet] 51 / 7739
29
 (HPO:0004325) Decreased body weight Occasional [Orphanet] 492 / 7739
30
 (HPO:0003765) Psoriasis Occasional [Orphanet] 17 / 7739
31
 (HPO:0001629) Ventricular septal defect Occasional [Orphanet] 316 / 7739
32
 (HPO:0002901) Hypocalcemia Very frequent [Orphanet] 56 / 7739
33
 (HPO:0003394) Muscle cramps Frequent [Orphanet] 106 / 7739
34
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
35
 (OMIM) Vaginal agenesis (rare) 1 / 7739
36
 (OMIM) Uterine agenesis (1 patient) 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Barakat et al. (1977) reported steroid-resistant nephrosis with progressive renal failure and death at ages 5 and 8 years in 2 brothers who also had nerve deafness and hypoparathyroidism. At autopsy, the parathyroid glands were absent in 1 ...
Molecular genetics OMIM Van Esch et al. (2000) performed deletion-mapping studies in 2 HDR patients (see 131320.0001 and 131320.0002) and defined a critical 200-kb region that contains the GATA3 gene (131320). This gene belongs to a family of zinc finger transcription ...