Knowledge on rare diseases and orphan drugs
COVID-19 & Rare diseases
Rare Diseases Resources for Refugees/Displaced Persons
Homepage > Rare diseases > Search
Search for a rare disease
Tay-Sachs disease, infantile form
Suggest an update
Your message has been sent
Your message has not been sent. Please contact an administrator.
ORPHA:309178
Classification level: Subtype of disorder
Synonym(s):
- Beta-hexosaminidase subunit alpha deficiency, infantile form
- GM2 gangliosidosis, Tay-Sachs variant, infantile form
- GM2 gangliosidosis, hexosaminidase A deficiency variant, infantile form
- HEXA disorder, infantile form
- Acute infantile Tay-Sachs disease
Source: PubMed ID 33232090
Prevalence: -
Inheritance: Autosomal recessive
Age of onset:
Summary
This disease is described under Tay-Sachs disease
Detailed information
: produced/endorsed by ERN(s)
: produced/endorsed by FSMR(s)
General public
Article for general public
Guidelines
Emergency guidelines
Clinical practice guidelines
Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
- Research project(s) (60)
- Clinical trial(s) (5)
- Biobank(s) (12)
- Registry(ies) (28)
- Network of experts (9)
Newborn screening
The documents contained in this website are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.