Cytoscape Web
Click node...

Combined oxidative phosphorylation defect type 4
1 OMIM reference -
1 associated gene
39 connected diseases
No signs/symptoms info
Disease Type of connection
Blackfan-Diamond anemia
Young adult-onset Parkinsonism
Spinocerebellar ataxia type 12
17q11 microdeletion syndrome
Acute myeloblastic leukemia with maturation
Acute myeloblastic leukemia without maturation
Acute myelomonocytic leukemia
Acute promyelocytic leukemia
Argininosuccinic aciduria
Autosomal dominant hypohidrotic ectodermal dysplasia
Burkitt lymphoma
Cabezas syndrome
Charcot-Marie-Tooth disease type 4G
Combined immunodeficiency due to STK4 deficiency
Common variable immunodeficiency
Dedifferentiated liposarcoma
Fibronectin glomerulopathy
Giant cell glioblastoma
Gliosarcoma
Glycogen storage disease due to liver phosphorylase kinase deficiency
Lethal congenital contracture syndrome type 2
Nestor-Guillermo progeria syndrome
Non-spherocytic hemolytic anemia due to hexokinase deficiency
Precursor T-cell acute lymphoblastic leukemia
Pseudohypoaldosteronism type 2E
Sandhoff disease, adult form
Sandhoff disease, infantile form
Sandhoff disease, juvenile form
Spinocerebellar ataxia type 36
Well-differentiated liposarcoma
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Familial cerebral saccular aneurysm
Generalized juvenile polyposis / juvenile polyposis coli
Hereditary hemorrhagic telangiectasia
Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
Pyruvate carboxylase deficiency, benign type
Pyruvate carboxylase deficiency, infantile type
Pyruvate carboxylase deficiency, severe neonatal type
Reticular dysgenesis
Synonym(s):
- COXPD4
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: -
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
TUFM P49411602389
No signs/symptoms info available.