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Pelizaeus-Merzbacher-like due to AIMP1 mutation
1 OMIM reference -
1 associated gene
15 connected diseases
No signs/symptoms info
Disease Type of connection
Acute infantile liver failure-multisystemic involvement syndrome
Autosomal recessive intermediate Charcot-Marie-Tooth disease type B
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Hypomyelination with brain stem and spinal cord involvement and leg spasticity
Blackfan-Diamond anemia
Hypotrichosis simplex
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
Isolated ATP synthase deficiency
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
AIMP1 Q12904603605
No signs/symptoms info available.