ORPHA:2237
Hypoparathyroidism-sensorineural deafness-renal disease syndrome
Synonyms: Barakat syndrome · HDR syndrome · Hypoparathyroidism-sensorineural hearing loss-renal disease syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- All ages
- Status
- active
Hypoparathyroidism-sensorineural deafness-renal disease syndrome is a rare, clinically heterogeneous genetic disorder characterized by the triad of hypoparathyroidism (H), sensorineural deafness (D) and renal disease (R).
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hypoparathyroidism-sensorineural deafness-renal disease syndrome | Barakat syndrome · HDR syndrome · Hypoparathyroidism-sensorineural hearing loss-renal disease syndrome |
| fr | Syndrome d'hypoparathyroïdie-surdité neurosensorielle-dysplasie rénale | Syndrome HDR · Syndrome de Barakat |
| de | Hypoparathyreoidismus-sensorineurale Schwerhörigkeit-Nierendysplasie-Syndrom | Barakat-Syndrom · HDR-Syndrom |
| es | Síndrome de hipoparatiroidismo-sordera neurosensorial-enfermedad renal | Síndrome HDR · Síndrome de Barakat · Síndrome de hipoparatiroidismo-hipoacusia neurosensorial-enfermedad renal |
| it | Ipoparatiroidismo - sordità - malattia renale | Sindrome HDR · Sindrome di Barakat |
| nl | Hypoparathyreoïdie - sensorineurale doofheid - nierziekte-syndroom | HDR-syndroom · Hypoparathyreoïdie - sensorineuraal gehoorverlies - nierziekte-syndroom · Syndroom van Barakat |
| pt | Síndrome de hipoparatiroidismo-surdez neurossensorial-doença renal | Síndrome Barakat · Síndrome HDR |
| pl | Niedoczynność przytarczyc - głuchota - choroba nerek | Zespół Barakata · Zespół HDR |
| cs | Syndrom zahrnující hypoparatyreózu, hluchotu a renální onemocnění | HDR syndrom · Barakatův syndrom |
| uk | Синдром гіпопаратиреозу - сенсоневральної глухоти - ниркової недостатності | Синдром Бараката · HDR-синдром · Синдром гіпопаратиреозу - сенсоневральної приглухуватості - ниркової недостатності |
| zh | 甲状旁腺功能减退-感音神经性耳聋-肾功能障碍 | 甲状旁腺功能减退-感音神经性听力损失-肾脏病综合征 |
| tr | Hipoparatiroidi-sensörinöral sağırlık-böbrek hastalığı sendromu | HDR sendromu · Barakat sendromu · Hipoparatiroidi-sensörinöral işitme kaybı-böbrek hastalığı sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 146255 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD27.0Y | NTBT | index | validated |
| MONDO | 0007797 | E | validated | |
| MeSH | C537907 | E | validated | |
| UMLS | C1840333 | E | validated | |
| GARD | 2911 | E | validated | |
| MedDRA | 10075281 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:261938Partial deletion of the short arm of chromosome 10 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases - ORPHA:181402Syndrome with hypoparathyroidism
rare genetic diseases; rare endocrine diseases - ORPHA:93547Syndromic renal or urinary tract malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare renal diseases; rare transplant-related disorders
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GATA3 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:4172 | ENSG00000107485 | 131320 | 10p14 | GATA binding protein 3 | 10935639[PMID]_21120445[PMID]_23757620[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
| Cases/families | 180 cases | Worldwide | Case(s) | Validated | 29663634[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
22 annotations · validated 2017-05-29| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0000829 | Hypoparathyroidism | |
| HP:0000408 | Progressive sensorineural hearing impairment | |
| HP:0000110 | Renal dysplasia | |
| Frequent (79-30%) | ||
| HP:0000126 | Hydronephrosis | |
| HP:0002901 | Hypocalcemia | |
| HP:0002199 | Hypocalcemic seizures | |
| HP:0000860 | Parathyroid hypoplasia | |
| HP:0000113 | Polycystic kidney dysplasia | |
| HP:0000083 | Renal insufficiency | |
| HP:0000122 | Unilateral renal agenesis | |
| HP:0000076 | Vesicoureteral reflux | |
| Occasional (29-5%) | ||
| HP:0000819 | Diabetes mellitus | |
| HP:0001153 | Septate vagina | |
| HP:0003762 | Uterus didelphys | |
| Very rare (<4-1%) | ||
| HP:0001627 | Abnormal heart morphology | |
| HP:0011840 | Abnormality of T cell physiology | |
| HP:0000151 | Aplasia of the uterus | |
| HP:0000175 | Cleft palate | |
| HP:0003765 | Psoriasiform dermatitis | |
| HP:0000510 | Rod-cone dystrophy | |
| HP:0008850 | Severe postnatal growth retardation | |
| HP:0000148 | Vaginal atresia | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 874665[PMID]_19659764[PMID]_1522843[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2237
- This record as JSON: /data/d/2237.json