Care Resources

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.

Scholarly Articles >>

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!

NEW! Prevention Genetics Next Generation Sequencing for 13 PEX Genes

Gentle Labs carrier testing

Sema4

Myriad Women’s Health (Formerly Counsyl)

23 and Me

Peroxisomal Lab at Kennedy Krieger Institute

Research Resources

Sterol & Isoprenoid Research Consortium (STAIR)

Wangler Lab at Baylor College of Medicine

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.