Peroxisome biogenesis disorder
Synonyms: PBD-ZSD · Peroxisome biogenesis disorder spectrum · Peroxisome biogenesis disorder-Zellweger spectrum disorder
- Type
- Clinical group
- Group
- Group of disorders
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS) is a group of autosomal recessive disorders affecting the formation of functional peroxisomes, characterized by sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment, and is comprised of the phenotypic variants Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Peroxisome biogenesis disorder | PBD-ZSD · Peroxisome biogenesis disorder spectrum · Peroxisome biogenesis disorder-Zellweger spectrum disorder |
| fr | Anomalie de la biogenèse du péroxysome | ABP-MSZ · Anomalie de la biogenèse du péroxysome-maladie du spectre de Zellweger · Spectre des anomalies de la biogenèse du péroxysome |
| de | Peroxisomenbiogenesedefekt | PBD-ZSD · Peroxisomale Biogenese-Störung · Peroxisomenbiogenesedefekt-Zellweger-Spektrum-Störung |
| es | Trastorno de la biogénesis del peroxisoma | Espectro de trastornos de la biogénesis del peroxisoma · Trastorno de la biogénesis del peroxisoma-trastorno del espectro Zellweger · Trastorno de la biogénesis peroxisomal |
| it | Difetto della biogenesi dei perossisomi | Difetto della biogenesi dei perossisomi-spettro della sindrome di Zellweger · PBD-ZSD · Spettro della biogenesi dei perossisomi |
| nl | Stoornis van peroxisoombiogenese | PBD-ZSD · Peroxisomale biogenesestoornis - Zellweger spectrum stoornis · Peroxisomale biogenesestoornis spectrum |
| pt | Doença da biogénese dos peroxissomas | Doença do espectro Zellweger-disfunção da biogénese dos peroxissomas · PBD-ZSD |
| pl | Zaburzenie biogenezy peroksysomów | Spektrum zaburzenia biogenezy peroksysomów |
| cs | Porucha peroxisomální biogeneze | PBD-ZSD · PBD-ZSS · PBD - spektrum Zellwegerova syndromu |
| uk | Порушення біогенезу пероксисом | PBD-ZSD · Спектр порушень біогенезу пероксисом · Порушення біогенезу пероксисом - розлад спектра Целльвегера |
| zh | 过氧化物酶体生物合成异常 | 过氧化物酶体生物合成异常疾病谱 |
| tr | Peroksizom biyogenez bozukluğu | Peroksizom biyogenez bozukluğu spektrumu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 202370 | BTNT | validated | |
| OMIM | 214100 | BTNT | validated | |
| OMIM | 214110 | BTNT | validated | |
| OMIM | 266510 | BTNT | validated | |
| OMIM | 601539 | BTNT | validated | |
| OMIM | 614859 | BTNT | validated | |
| OMIM | 614862 | BTNT | validated | |
| OMIM | 614863 | BTNT | validated | |
| OMIM | 614866 | BTNT | validated | |
| OMIM | 614867 | BTNT | validated | |
| OMIM | 614870 | BTNT | validated | |
| OMIM | 614871 | BTNT | validated | |
| OMIM | 614872 | BTNT | validated | |
| OMIM | 614873 | BTNT | validated | |
| OMIM | 614876 | BTNT | validated | |
| OMIM | 614877 | BTNT | validated | |
| OMIM | 614879 | BTNT | validated | |
| OMIM | 614882 | BTNT | validated | |
| OMIM | 614883 | BTNT | validated | |
| OMIM | 614885 | BTNT | validated | |
| OMIM | 614886 | BTNT | validated | |
| OMIM | 614887 | BTNT | validated | |
| OMIM | 614920 | BTNT | validated | |
| ICD-11 | 5C57.0 | E | specific | validated |
| MONDO | 0019234 | E | validated | |
| MONDO | 19234 | E | validated | |
| MeSH | C536664 | E | validated | |
| UMLS | C1832200 | E | validated | |
| GARD | 11890 | 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 (6):
- ORPHA:68356Leukodystrophy
rare genetic diseases; rare neurological diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:68373Peroxisomal disease
rare inborn errors of metabolism; rare genetic diseases - ORPHA:716405Rare disorder with progressive generalized retinal disorder as a major feature
rare genetic diseases; rare ophthalmic disorders - ORPHA:207018Rare hereditary metabolic disease with peripheral neuropathy
rare genetic diseases; rare neurological diseases - ORPHA:101940Rare metabolic liver disease
rare genetic diseases; rare hepatic diseases
Codes that Orphanet moved or referred to this one:
- ORPHA:34Pipecolic acidemia moved to · inactive
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
5 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 2 / 100 000 | United States | Value and class | Validated | 20301621[PMID] |
| Point prevalence | 1-9 / 100 000 | — | United States | Class only | Not yet validated | 20301621[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.2 / 100 000 | Japan | Value and class | Validated | 12794690[PMID] |
| Point prevalence | 1-9 / 1 000 000 | — | Japan | Class only | Not yet validated | 12794690[PMID] |
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
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/79189
- This record as JSON: /data/d/79189.json