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Orphanet Rare Disease Ontology
| Preferred Name | Peroxisome biogenesis disorder | |
| Synonyms |
PBD-ZSD Peroxisome biogenesis disorder spectrum Peroxisome biogenesis disorder-Zellweger spectrum disorder |
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| Definitions |
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) (see these terms). |
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| ID |
http://www.orpha.net/ORDO/Orphanet_79189 |
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| alternative_term |
PBD-ZSD Peroxisome biogenesis disorder spectrum Peroxisome biogenesis disorder-Zellweger spectrum disorder
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| definition |
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) (see these terms).
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| definition_citation |
Orphanet
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| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=79189 |
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| has_age_of_onset |
Infancy Neonatal
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| has_inheritance |
Autosomal recessive
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| hasDbXref |
OMIM:614920 OMIM:202370 OMIM:614862 OMIM:614866 OMIM:614867 OMIM:614863 OMIM:614887 OMIM:614886 OMIM:614885 OMIM:614882 OMIM:614883 MeSH:C536664 OMIM:614859 OMIM:601539 OMIM:214100 ICD-11:5C57.0 OMIM:614877 OMIM:614870 OMIM:614871 OMIM:614876 OMIM:614873 OMIM:614872 OMIM:614879 OMIM:266510 UMLS:C1832200 OMIM:214110
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| label |
Peroxisome biogenesis disorder
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| notation |
ORPHA:79189 Clinical group
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| prefixIRI |
ORDO:Orphanet_79189
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| prefLabel |
Peroxisome biogenesis disorder
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| present_in |
United States AND has_point_prevalence_range : 1-9 / 100 000 United States AND has_birth_prevalence_average_value : 2.0 AND has_birth_prevalence_range : 1-9 / 100 000 Japan AND has_point_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown Japan AND has_birth_prevalence_average_value : 0.2 AND has_birth_prevalence_range : 1-9 / 1 000 000
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| subClassOf |
http://www.orpha.net/ORDO/Orphanet_98661 http://www.orpha.net/ORDO/Orphanet_207018 http://www.orpha.net/ORDO/Orphanet_557492 http://www.orpha.net/ORDO/Orphanet_68356 http://www.orpha.net/ORDO/Orphanet_101940 |
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