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Mitochondrial myopathy and sideroblastic anemia
2 OMIM references -
2 associated genes
7 connected diseases
17 signs/symptoms
Disease Type of connection
Autosomal recessive nonsyndromic intellectual deficit
Dubowitz syndrome
Estrogen resistance syndrome
Glycogen storage disease due to glycogen debranching enzyme deficiency
Osteogenesis imperfecta type 2
Osteogenesis imperfecta type 3
Pseudohypoaldosteronism type 2E
Synonym(s):
- MLASA
- MSA
- Myopathy, lactic acidosis and sideroblastic anemia
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare hematologic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: adolescence / young
Average age of death: no data available
Type of inheritance: autosomal recessive
External references:
2 OMIM references -
1 MeSH reference: C536101
Gene symbol UniProt reference OMIM reference
PUS1 Q9Y606608109
YARS2 Q9Y2Z4610957
Very frequent
- Abnormal EMG / electromyogram / electropmyography
- Anaemia
- Distichiasis / double row of lashes
- High vaulted / narrow palate
- Hypotonia
- Long philtrum
- Metabolic anomalies
- Micrognathia / retrognathia / micrognathism / retrognathism
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Myopathy

Frequent
- Glaucoma
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Kyphosis
- Late puberty / hypogonadism / hypogenitalism
- Microcephaly
- Scoliosis
- Short / small nose