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Early-onset spastic ataxia-neuropathy syndrome
1 OMIM reference -
1 associated gene
16 connected diseases
No signs/symptoms info
Disease Type of connection
Spinocerebellar ataxia type 28
CLN3 disease
Intermittent hydrarthrosis
TRAPS syndrome
Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
X-linked agammaglobulinemia
17q11 microdeletion syndrome
Neutrophil immunodeficiency syndrome
Young adult-onset Parkinsonism
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Synonym(s):
- AFG3L2-associated spastic ataxia-neuropathy syndrome
- Autosomal recessive spastic ataxia type 5
- SPAX5
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
AFG3L2 Q9Y4W6604581
No signs/symptoms info available.