CASK gene disorder
Where to read about CASK, and who to talk to.
CASK is a gene on the X chromosome. According to MedlinePlus Genetics, the protein it makes helps control the activity of other genes involved in brain development, and changes in it are associated with a spectrum of conditions — the more severe being microcephaly with pontine and cerebellar hypoplasia (MICPCH), and a milder form described as X-linked intellectual disability with or without nystagmus.
It is an ultra-rare condition. Project CASK describes fewer than 600 families worldwide. That number is the reason this page exists: there is no large body of information to search through, and most of what does exist is scattered. Everything below is public, free to read, and maintained by someone other than us.
We have deliberately not summarised prognosis here. The clinical reference below covers it properly, and a statistic about your child belongs in a conversation with your care team rather than on a link page.
Organisations
The people who do this every day
Families are served by organisations in the United States, Australia, the United Kingdom, France, Luxembourg and Italy. If you have just received a diagnosis, contacting any one of them will do more for you in a week than any amount of reading.
United States
Three foundations, each with a different emphasis.
- Project CASK501(c)(3)
Competitive research grants, a patient registry and natural-history study, shared research infrastructure such as cell and mouse models, and an annual scientific think tank. Parent-led.
- CASK Gene Foundationnon-profit
Awareness, education and advocacy with direct family support — a registry, family scholarships, and material written for newly diagnosed families.
- CASK Warriors Foundationnon-profit
Funds research toward disease-modifying therapy, with a deliberate focus on boys — who are often the most severely affected and have been under-represented in research.
Australia and the United States
One organisation, two registered entities.
- Cure CASKACNRF Ltd (AU) · ACNRF Inc (US)
The Angelina CASK Neurological Research Foundation, operating as Cure CASK. Funds research, partners with RARE-X on a patient database, convenes a scientific advisory board, and publishes newly-diagnosed and early-intervention resources.
United Kingdom
- CASK Researchregistered charity
Accelerates research into CASK disorders and supports families directly — annual UK meet-ups, plain-language booklets, and mental-health support. Works with the RARE-X global registry and the Patient Led Research Hub at the University of Cambridge.
France
- Association Enfants CASK FranceAECF · Brittany
Raises awareness, supports families through territorial branches and the “Guerriers CASK France” network, and funds research on the pledge that every euro donated goes to research.
Luxembourg and Italy
Named here because they exist and families should know to look for them.
- CASK Luxembourg asblLuxembourg
Founded 2025 to support families, raise awareness of CASK gene disorder, and promote research. We could not verify an independent website.
- ProCASK ItaliaItaly
An Italian CASK organisation. We could not verify an independent website.
Beyond the foundations, the day-to-day centre of this community is a global CASK parent support group on Facebook, where families across every country above compare notes. Each of the organisations links to it from their own newly-diagnosed pages, which is the most reliable way to find the current group.
Start here
The authoritative descriptions
Written and maintained by clinical geneticists and by the NIH, not by us.
Clinical and plain-language references
- CASK Disorders — GeneReviewsNCBI · Moog & Kutsche, revised 2020
The expert-authored clinical reference: diagnosis, management, genetic counselling, and the full phenotypic spectrum. Written for clinicians and free to read — this is the document to bring to an appointment.
- CASK-related intellectual disabilityMedlinePlus Genetics · NIH
The same territory in plain language, and the better place to start if you are reading about this for the first time.
- The CASK geneMedlinePlus Genetics · NIH
What the gene does, where it sits on the X chromosome, and which conditions are associated with changes in it.
Gene and variant databases
If you have a genetic report naming a specific variant, these are where that variant is catalogued.
- MICPCH — OMIM phenotype entry (300749)OMIM
The catalogue entry for microcephaly with pontine and cerebellar hypoplasia, with its literature trail.
- CASK — OMIM gene entry (300172)OMIM
- CASK variant interpretations in ClinVarClinVar · NCBI
The public archive of how laboratories have classified specific CASK variants. If you have a report naming a variant, this is where to see how others have read it.
- CASK gene (Gene ID 8573)NCBI Gene
Research
Registries and studies
A registry is the single most useful thing a family can contribute to in an ultra-rare disease: it is how a scattered handful of cases becomes something a researcher can study.
Take part
- CASK data collection programmeRARE-X
A patient-owned registry that collects de-identified information about children with CASK variants. In a community this small, a registry only works if families join it.
- Simons Searchlight — CASKSimons Foundation
An international research registry covering CASK among many neurodevelopmental genetic conditions. Participation is remote, in several languages.
- Trials related to CASKClinicalTrials.gov
The US registry of clinical studies. Expect few or no interventional trials today; natural-history and observational studies are the more likely finding.
What we do, and do not do
CASK is the anchor disease for our own research programme — we read the CASK literature, extract its measurements, and try to work out what better-studied genes can honestly tell us about this one. That work is hypothesis-generating and sits behind an account, for professional and research use.
None of it is treatment, none of it has been tested in a person, and nothing on this page should be read as suggesting otherwise. This page is a directory of other people’s work.
Understanding it
What is actually known, explained plainly
Written for families rather than for clinicians, and honest about the difference between what is established, what is being studied, and what is not yet a treatment at all.
CASK basics — what the gene does, the spectrum of CASK-related disorders, and why X-inactivation makes severity vary so widely between one child and another.
The blood-brain barrier & treatments — why a therapy can be right about the biology and still never reach the brain, and how small molecules, ASOs, gene therapy and enzyme replacement each meet that problem. This is the page to read before any headline about a breakthrough.
How variants cause disease — loss of function, dominant-negative, and why having one working copy of a gene is sometimes not enough.
None of these has been reviewed by an outside expert, and each page says so at the top. They describe the state of knowledge in the field — not our own findings, and not advice about any individual.
Just received a diagnosis?
There is a separate page for the practical first steps — reading a genetic report, finding a genetic counsellor, and what to do in the first few weeks.
External links open in a new tab. We do not control these sites and are not responsible for their content. Every link on this page was checked on 29 August 2026.
Research aid only — not medical advice. Piper is a research and educational aid. It is not medical advice, not a diagnosis, and not a clinical determination. Its output is hypothesis-generating and may be incomplete, provisional, or wrong, including AI-generated errors. Always consult your own qualified healthcare professional before making any medical or treatment decision.
The material on this site is written with the help of AI and may contain mistakes. It describes the state of published knowledge rather than any individual, and every source it rests on is named so you can check it.