galactosidase alpha
OMIM: 300644, Gene2Phenotype
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GLA in Mucopolysaccharideosis, Gaucher, Fabry
Level 3: Lysosomal storage disorders
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
Sources
Phenotypes
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GLA in Hyperammonaemia
Level 3: Urea Cycle disorders
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review | Not set |
Sources
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GLA in Fetal hydrops
Level 3: Fetal disorders
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
Sources
Phenotypes
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GLA in Cerebral vascular malformations
Level 3: Cerebrovascular disorders
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review | Unknown |
Sources
Phenotypes
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GLA in Familial cerebral small vessel disease
Level 3: Arteriopathies
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
Sources
Phenotypes
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GLA in Lysosomal storage disorder
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
Sources
Phenotypes
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GLA in White matter disorders - adult onset
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
Sources
Phenotypes
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GLA in Progressive cardiac conduction disease
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
Sources
Phenotypes
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GLA in Hypertrophic cardiomyopathy - teen and adult
Level 3: Cardiomyopathy
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
Sources
Phenotypes
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GLA in Dilated Cardiomyopathy and conduction defects
Level 3: Cardiomyopathy
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
Sources
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GLA in Cystic kidney disease
Level 3: Structural renal and urinary tract disease
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
Sources
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GLA in Pain syndromes
Level 3: Channelopathies
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
Sources
Phenotypes
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GLA in Paroxysmal central nervous system disorders
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
Sources
Phenotypes
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GLA in Unexplained kidney failure in young people
Level 3: Disorders of function
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
Sources
Phenotypes
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GLA in Multiple monogenic benign skin tumours
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
Sources
Phenotypes
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GLA in Unexplained paediatric onset end-stage renal disease
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
Sources
Phenotypes
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GLA in Undiagnosed metabolic disorders
Level 3: Specific metabolic abnormalities
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
Sources
Phenotypes
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GLA in Inborn errors of metabolism
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
Sources
Phenotypes
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GLA in Fetal anomalies
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
Sources
Phenotypes
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GLA in Hereditary neuropathy
Level 3: Motor and Sensory Disorders of the PNS
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
Sources
Phenotypes
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GLA in Proteinuric renal disease
Level 3: Syndromes with prominent renal abnormalities
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
Sources
Phenotypes
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GLA in Groopman et al 2019 - Genes with diagnostic variants
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
Sources
Phenotypes
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GLA in Cardiomyopathies - including childhood onset
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
Sources
Phenotypes
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GLA in Hereditary neuropathy NOT PMP22 copy number
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
Sources
Phenotypes
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GLA in Childhood onset dystonia or chorea or related movement disorder
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review | Not set |
Sources
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GLA in Severe Paediatric Disorders
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
Sources
Phenotypes
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