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Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
1 OMIM reference -
1 associated gene
10 connected diseases
No signs/symptoms info
Disease Type of connection
Juvenile myelomonocytic leukemia
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Hereditary gingival fibromatosis
Noonan syndrome
Autosomal agammaglobulinemia
SHORT syndrome
Opsismodysplasia
Capillary malformation - arteriovenous malformation
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus
Parkes Weber syndrome
Synonym(s):
- ALSP
- Autosomal dominant leukoencephalopathy with neuroaxonal spheroids
- HDLS
- Hereditary diffuse leukoencephalopathy with spheroids
- POLD
- Pigmentary orthochromatic leukodystrophy
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: adulthood
Average age of death: adult
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
CSF1R P07333164770
No signs/symptoms info available.