Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome
historical
Synonyms: Atherosclerosis-hearing loss-diabetes-epilepsy-nephropathy syndrome · Feigenbaum-Bergeron-Richardson syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- historical
A rare, severe, circulatory system disease characterized by premature, diffuse, severe atherosclerosis (including the aorta and renal, coronary, and cerebral arteries), sensorineural deafness, diabetes mellitus, progressive neurological deterioration with cerebellar symptoms and photomyoclonic seizures, and progressive nephropathy. Partial deficiency of mitochondrial complexes III and IV in the kidney and fibroblasts (but not in muscle) may be associated. There have been no further descriptions in the literature since 1994.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome | Atherosclerosis-hearing loss-diabetes-epilepsy-nephropathy syndrome · Feigenbaum-Bergeron-Richardson syndrome |
| fr | Syndrome d'athérosclérose-surdité-épilepsie-diabète-néphropathie | Syndrome de Feigenbaum-Bergeron-Richardson |
| de | Atherosklerose-Schwerhörigkeit-Diabetes-Epilepsie-Nephropathie-Syndrom | Feigenbaum-Bergeron-Richardson-Syndrom |
| es | Síndrome de ateroesclerosis-sordera-diabetes-epilepsia-nefropatía | Síndrome de Feigenbaum-Bergeron-Richardson · Síndrome de ateroesclerosis-hipoacusia-diabetes-epilepsia-nefropatía |
| it | Sindrome da aterosclerosi-sordità-diabete-epilessia-nefropatia | Sindrome di Feigenbaum-Bergeron-Richardson |
| nl | Atherosclerose- doofheid - diabetes - epilepsie - nefropathie-syndroom | Syndroom van Feigenbaum-Bergeron-Richardson |
| pt | Síndrome de aterosclerose-surdez-diabetes-epilepsia-nefropatia | Síndrome Feigenbaum-Bergeron-Richardson |
| pl | Miażdzyca tętnic - głuchota - cukrzyca - padaczka - nefropatia | Zespół Feigenbauma, Bergerona i Richardsona |
| cs | Syndrom zahrnující aterosklerózu, hluchotu, diabetes, epilepsii a nefropatii | Feigenbaumův-Bergeronův-Richardsonův syndrom · Feigenbaum-Bergeron-Richardsonův syndrom |
| uk | Синдром атеросклерозу-глухоти-діабету-епілепсії-нефропатії | Синдром атеросклерозу - втрати слуху - діабету - епілепсії - нефропатії · Синдром Фейгенбаума-Берджерона-Річардсона |
| zh | 动脉粥样硬化-耳聋-糖尿病-癫痫-肾病综合征 | Feigenbaum-Bergeron-Richardson 综合征 |
| tr | Ateroskleroz-sağırlık-diyabet-epilepsi-nefropati sendromu | Ateroskleroz-işitme kaybı-diyabet-epilepsi-nefropati sendromu · Feigenbaum-Bergeron-Richardson sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 209010 | E | validated | |
| ICD-10 | I70.9 | NTBT | attributed | validated |
| ICD-11 | LD2H.Y | NTBT | index | validated |
| MONDO | 0008843 | E | validated | |
| MeSH | C536178 | E | validated | |
| UMLS | C2931125 | E | validated | |
| GARD | 2279 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological 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.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 8172238[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_8172238[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.
HPO phenotypes
23 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003287 | Abnormality of mitochondrial metabolism | |
| HP:0001903 | Anemia | |
| HP:0007201 | Cerebral artery atherosclerosis | |
| HP:0001677 | Coronaryartery atherosclerosis | |
| HP:0001327 | Photomyoclonic seizures | |
| HP:0002344 | Progressive neurologic deterioration | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0004322 | Short stature | |
| HP:0100651 | Type I diabetes mellitus | |
| Frequent (79-30%) | ||
| HP:0001633 | Abnormal mitral valve morphology | |
| HP:0007360 | Aplasia/Hypoplasia of the cerebellum | |
| HP:0100545 | Arterial stenosis | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0000028 | Cryptorchidism | |
| HP:0001288 | Gait disturbance | |
| HP:0003307 | Hyperlordosis | |
| HP:0000822 | Hypertension | |
| HP:0001276 | Hypertonia | |
| HP:0001376 | Limitation of joint mobility | |
| HP:0000112 | Nephropathy | |
| HP:0000100 | Nephrotic syndrome | |
| HP:0000093 | Proteinuria | |
| HP:0001337 | Tremor | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1192
- This record as JSON: /data/d/1192.json