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Hypotonia with lactic acidemia and hyperammonemia
1 OMIM reference -
1 associated gene
23 connected diseases
No signs/symptoms info
Disease Type of connection
Adrenocortical carcinoma
B-cell chronic lymphocytic leukemia
Essential thrombocythemia
Familial pancreatic carcinoma
Giant cell glioblastoma
Gliosarcoma
Li-Fraumeni syndrome
Papilloma of choroid plexus
Precursor B-cell acute lymphoblastic leukemia
Burkitt lymphoma
Hereditary breast and ovarian cancer syndrome
Precursor T-cell acute lymphoblastic leukemia
Amyotrophic lateral sclerosis
Anophthalmia / microphthalmia - esophageal atresia
Colobomatous microphthalmia
Frontotemporal dementia with motor neuron disease
Isolated anophthalmia - microphthalmia
Lethal congenital contracture syndrome type 2
Pseudohypoaldosteronism type 2E
Septo-optic dysplasia
Young adult-onset Parkinsonism
Estrogen resistance syndrome
Autosomal recessive optic atrophy, OPA7 type
Synonym(s):
- COXPD5
- Combined oxidative phosphorylation defect type 5
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
MRPS22 P82650605810
No signs/symptoms info available.