loading...| Preferred Name |
Neonatal adrenoleukodystrophy |
|
| Synonyms |
Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder |
|
| Definitions |
A variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS) charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD). |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_44 |
|
| alternative_term |
Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder NALD Intermediate PBD-ZSD |
|
| definition |
A variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS) charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD). |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=44 |
|
| has_age_of_onset |
Childhood Infancy Neonatal |
|
| has_inheritance |
Autosomal recessive |
|
| hasDbXref |
OMIM:614920 OMIM:202370 OMIM:614867 OMIM:614863 OMIM:614885 UMLS:C0282525 OMIM:617370 ICD-10:E71.3 OMIM:601539 ICD-11:5A74.Y OMIM:614877 OMIM:614871 OMIM:614873 OMIM:266510 |
|
| label |
Neonatal adrenoleukodystrophy |
|
| notation |
ORPHA:44 |
|
| part_of |
http://www.orpha.net/ORDO/Orphanet_522520 http://www.orpha.net/ORDO/Orphanet_101960 http://www.orpha.net/ORDO/Orphanet_79189 http://www.orpha.net/ORDO/Orphanet_98683 |
|
| prefixIRI |
ORDO:Orphanet_44 |
|
| prefLabel |
Neonatal adrenoleukodystrophy |
|
| present_in |
Italy AND has_birth_prevalence_average_value : 1.2 AND has_birth_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown |
|
| treeView |
http://www.orpha.net/ORDO/Orphanet_522520 http://www.orpha.net/ORDO/Orphanet_101960 http://www.orpha.net/ORDO/Orphanet_79189 http://www.orpha.net/ORDO/Orphanet_98683 |
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| subClassOf |