ORPHA:2668
Nephropathy-deafness-hyperparathyroidism syndrome
historical
Synonyms: Edwards-Patton-Dilly syndrome · Nephropathy-hearing loss-hyperparathyroidism syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- historical
A rare syndromic deafness characterized by renal failure without hematuria, hyperparathyroidism due to parathyroid hyperplasia and sensorineural deafness. There have been no further descriptions in the literature since 1989.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Nephropathy-deafness-hyperparathyroidism syndrome | Edwards-Patton-Dilly syndrome · Nephropathy-hearing loss-hyperparathyroidism syndrome |
| fr | Syndrome de néphropathie-surdité-hyperparathyroïdie | Syndrome d'Edwards-Patton-Dilly |
| de | Nephropathie-Schwerhörigkeit-Hyperparathyreoidismus-Syndrom | Edwards-Patton-Dilly-Syndrom |
| es | Síndrome de nefropatía-sordera-hiperparatiroidismo | Síndrome de Edwards-Patton-Dilly · Síndrome de nefropatía-hipoacusia-hiperparatiroidismo |
| it | Sindrome nefropatia-sordità-iperparatiroidismo | Sindrome di Edwards-Patton-Dilly |
| nl | Nefropathie - doofheid - hyperparathyreoïdie-syndroom | Nefropathie - gehoorverlies - hyperparathyreoïdie-syndroom · Syndroom van Edwards-Patton-Dilly |
| pt | Síndrome de nefropatia-surdez-hiperparatiroidismo | Síndrome Edwards-Patton-Dilly · Síndrome de nefropatia-perda auditiva-hiperparatiroidismo |
| pl | Nefropatia - głuchota - nadczynność przytarczyc | Zespół Edwardsa, Pattona i Dilly'ego |
| cs | Syndrom zahrnující neuropatii, hluchotu a hyperparatyreózu | Edwardsův-Pattonův-Dillyové syndrom · Edwards-Patton-Dillyové syndrom |
| uk | Синдром нефропатії-глухоти-гіперпаратиреозу | Синдром Едвардса-Паттона-Діллі · Синдром нефропатії - втрати слуху - гіперпаратиреозу |
| zh | 肾病-耳聋-甲状旁腺功能亢进综合征 | 肾病-听力丧失-甲状旁腺功能亢进综合征 |
| tr | Nefropati-sağırlık-hiperparatiroidizm sendromu | Edwards-Patton-Dilly sendromu · Nefropati-işitme kaybı-hiperparatiroidi sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 256120 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2H.Y | NTBT | index | validated |
| MONDO | 0009729 | E | validated | |
| MeSH | C536401 | E | validated | |
| UMLS | C4518325 | E | validated | |
| GARD | 3940 | 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 (1):
- ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 2732989[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_2732989[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
8 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000407 | Sensorineural hearing impairment | |
| Frequent (79-30%) | ||
| HP:0012062 | Bone cyst | |
| HP:0100820 | Glomerulopathy | |
| HP:0003072 | Hypercalcemia | |
| HP:0000843 | Hyperparathyroidism | |
| HP:0000093 | Proteinuria | |
| HP:0000083 | Renal insufficiency | |
| Occasional (29-5%) | ||
| HP:0001903 | Anemia | |
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2668
- This record as JSON: /data/d/2668.json