GeneReviews® and OMIM®
GeneReviews®, is an international point-of-care resource for busy clinicians, provides clinically relevant and medically actionable information for inherited conditions in a standardized journal-style format, covering diagnosis, management, and genetic counseling for patients and their families.
Each chapter in GeneReviews® is written by one or more experts on the specific condition or disease and goes through a rigorous editing and peer review process before being published online.
OMIM®, or the Online Mendelian Inheritance in Man®is a comprehensive, authoritative compendium of human genes and genetic phenotypes that is freely available and updated daily.
The full-text, referenced overviews in OMIM® contain information on all known mendelian disorders and over 15,000 genes. OMIM® focuses on the relationship between phenotype and genotype. It is updated daily, and the entries contain copious links to other genetics resources.
GeneReviews® and OMIM® Database for Peroxisomal Biogenesis Disorder-Zellweger Spectrum Disorder (formerly known as Zellweger Syndrome, Neonatal Adrenoleukodystrophy, Infantile Refsum Disease, and Heimler Syndrome):
GeneReviews® for Peroxisomal Biogenesis Disorder-Zellweger Spectrum Disorder https://www.ncbi.nlm.nih.gov/books/NBK1448/
OMIM® entry on Peroxisomal Biogenesis Disorder-Zellweger Spectrum Disorder https://omim.org/entry/214100?search=zellweger&highlight=zellweger
GeneReviews® and OMIM® Database for other Peroxisomal Disorders
GeneReviews® for Peroxisomal Acyl-CoA Oxidase Deficiency
OMIM® entry on Acyl-CoA Oxidase Deficiency
GeneReviews® for D-Bifunctional Protein Deficiency–
OMIM® entry on D-Bifunctional Protein Deficiency
GeneReviews® for X-Linked Adrenoleukodystrophy
OMIM® entry on X-Linked Adrenoleukodystrophy
GeneReviews® on Rhizomelic Chondrodysplasia Punctata
OMIM® entry on Rhizomelic Chondrodysplasia Punctata
Patient Genetic and Family Carrier Testing- NEW RESOURCES!
See also our page on Clinical Trials
Foundations and Support Groups
United Leukodystrophy Foundation– Support for all leukodystrophies
Australian Leukodystrophy Support Group– Support for families facing leukodystrophy in Australia
European Leukodystrophy Foundation– Support for families facing leukodystrophy in Europe
Axel Foundation– Foundation centered around support for families facing Zellweger Spectrum Disorder in the Netherlands
Axel’s Metabolic Disorder (educational comic book created by Axel Foundation)
Zellweger UK– Foundation in the United Kingdom focused on Zellweger Spectrum Disorder
PBD Canada– Support group in Canada for families facing PBD-ZSD and the related peroxisomal disorders
Fundacion Lautarote Necesita– Foundation supporting leukodystrophy research in Argentina
Bereaved Parents of PBD Kids Support Group– This group is hosted by a mother who has lost a child to a peroxisomal disorder.
Make-A-Wish Foundation– Provides wishes for children with terminal illnesses
Lily’s List – Lily’s List is an organization that supplies boxes of organizational supplies to families with medically fragile children.