Multisystem disorders

Autosomal RecessiveAutosomal DominantMitochondrialMotor Neuron / ALSOMIM 272800

Overview

From WUSTL Neuromuscular

Hexosaminidase A: GM2 Gangliosidosis, Late Onset ● β-Hexosaminidase A (HEXA) ; Chromosome 15q23; Recessive Nosology: Tay-Sachs, Late onset (LOTS) Genetic features Gly269Ser substitution in α chain Most common mutation in adult form Usually in compound heterozygosity with null mutation Other mutations with milder disease Missense: Arg499His; Arg499Cys; Arg504His; Arg504Cys Splice site: IVS7-7G General: Chilhood + Adult mutations Other mutations (null): More severe disease Exon 11: 4-bp insertion Exon 12: G to C mutation in splice junction Exon 1: A to T in initiation codon Misdiagnosis Pseudo-d

OMIM Entries

OMIM #272800 OMIM #606869 OMIM #268800 OMIM #109150 OMIM #183085 OMIM #232500 OMIM #263570 OMIM #607839 OMIM #205250 OMIM #601162 OMIM #138250 OMIM #600274 OMIM #157140 OMIM #601104 OMIM #260540 OMIM #172700 OMIM #168600 OMIM #604260 OMIM #600333 OMIM #612079 OMIM #612074 OMIM #607208 OMIM #182389 OMIM #619216 OMIM #611901 OMIM #164210

External Resources

WUSTL Neuromuscular

Washington University Disease Center

OMIM

Online Mendelian Inheritance in Man

PubMed

Biomedical Literature

GeneReviews

NCBI Expert-Authored Reviews

Orphanet

Portal for Rare Diseases

NORD

National Organization for Rare Disorders

Data sourced from the Washington University Neuromuscular Disease Center. For clinical use, always refer to primary sources.