Deafness-encephaloneuropathy-obesity-valvulopathy syndrome
Synonyms: Hearing loss-encephaloneuropathy-obesity-valvulopathy syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome is a rare mitochondrial disease with marked clinical variability typically characterized by encephalomyopathy, kidney disease (nephrotic syndrome), optic atrophy, early-onset deafness, pancytopenia, obesity, and cardiac disease (valvulopathy). Additionally, macrocephaly, intellectual disability, hyperlactatemia, elevated lactate/pyruvate ratio, insulin-dependent diabetes, livedo reticularis, liver dysfunction and seizures have also been associated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Deafness-encephaloneuropathy-obesity-valvulopathy syndrome | Hearing loss-encephaloneuropathy-obesity-valvulopathy syndrome |
| fr | Syndrome de surdité-encéphaloneuropathie-obésité-valvulopathie | |
| de | Schwerhörigkeit-Enzephaloneuropathie-Adipositas-Valvulopathie-Syndrom | |
| es | Síndrome de sordera-encefaloneuropatía-obesidad-valvulopatía | Síndrome de hipoacusia-encefaloneuropatía-obesidad-valvulopatía |
| it | Sordità - encefaloneuropatia - obesità - valvulopatia | Perdita dell'udito - encefaloneuropatia - obesità - valvulopatia |
| nl | Doofheid - encefaloneuropathie - obesitas - valvulopathie-syndroom | Gehoorverlies - encefaloneuropathie - obesitas - valvulopathie-syndroom |
| pt | Surdez - encefaloneuropatia - obesidade - valvulopatia | Perda auditiva - encefaloneuropatia - obesidade - valvulopatia |
| pl | Głuchota - encefaloneuropatia - otyłość - walwulopatia | Utrata słuchu - encefaloneuropatia - otyłość - walwulopatia |
| cs | Syndrom zahrnující hluchotu, encefaloneuropatii, obezitu a onemocnění chlopní | Syndrom zahrnující ztrátu sluchu, encefaloneuropatii, obezitu a onemocnění chlopní |
| uk | Синдром глухоти-енцефалоневропатії-ожиріння-вальвулопатії | Синдром втрати слуху-енцефалоневропатії-ожиріння-вальвулопатії |
| zh | 耳聋-脑神经病变-肥胖-心脏瓣膜病综合征 | 耳聋-脑神经病变-肥胖-心脏瓣膜病综合征 |
| tr | Sağırlık-ensefalonöropati-obezite-valvülopati sendromu | İşitme kaybı-ensefalonöropati-obezite-valvülopati sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614651 | E | validated | |
| ICD-10 | E88.8 | NTBT | attributed | validated |
| ICD-11 | 5C53.22 | NTBT | index | validated |
| MONDO | 0013837 | E | validated | |
| UMLS | C4706538 | 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 (1):
- ORPHA:35656Coenzyme Q10 deficiency
rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PDSS1 | Disease-causing germline mutation(s) in | Assessed | HGNC:17759 | ENSG00000148459 | 607429 | 10p12.1 | decaprenyl diphosphate synthase subunit 1 | 17332895[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 17332895[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_17332895[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/254898
- This record as JSON: /data/d/254898.json