Decreased activity of mitochondrial complex IV

Symptom Information:

Symptom ID: HPO:0008347
Synonyms:
Respiratory complex IV deficiency [HPO:0008347]
Quality:
Cross references:
Is a (Direct Parents):
HPO         Decreased activity of mitochondrial respiratory chain
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of metabolism/homeostasis(HPO:0001939)
          Abnormality of cell physiology(HPO:0011017)
             Abnormality of the mitochondrion(HPO:0012103)
                Abnormality of mitochondrial metabolism(HPO:0003287)
                   Abnormal activity of mitochondrial respiratory chain(HPO:0011922)
                      Decreased activity of mitochondrial respiratory chain(HPO:0008972)
                         Decreased activity of mitochondrial complex IV(HPO:0008347)
MedDRA:
Database Frequency: 31 / 7739
Resource:

All diseases associated with this symptom:

Alpers syndrome (Orphanet:726)
Autosomal recessive spastic paraplegia type 55 (Orphanet:320375)
Autosomal recessive spastic paraplegia type 7 (Orphanet:99013)
Behr syndrome (Orphanet:1239)
Combined oxidative phosphorylation defect type 11 (Orphanet:324535)
Combined oxidative phosphorylation defect type 13 (Orphanet:319514)
Combined oxidative phosphorylation defect type 14 (Orphanet:319519)
Combined oxidative phosphorylation defect type 15 (Orphanet:319524)
Combined oxidative phosphorylation defect type 17 (Orphanet:369913)
Combined oxidative phosphorylation defect type 2 (Orphanet:254920)
Combined oxidative phosphorylation defect type 4 (Orphanet:254925)
Combined oxidative phosphorylation defect type 7 (Orphanet:254930)
Combined oxidative phosphorylation defect type 8 (Orphanet:319504)
Combined oxidative phosphorylation defect type 9 (Orphanet:319509)
Combined oxidative phosphorylation deficiency type 23 (ORPHA:444013)
Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3 (Orphanet:168566)
Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 (Orphanet:137681)
Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome (Orphanet:363694)
Hypotonia with lactic acidemia and hyperammonemia (Orphanet:137908)
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency (Orphanet:352563)
Leigh syndrome with leukodystrophy (Orphanet:255241)
Lethal infantile mitochondrial myopathy (Orphanet:254857)
Leukoencephalopathy - thalamus and brainstem anomalies - high lactate (Orphanet:314051)
Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency (Orphanet:1194)
Myopathy and diabetes mellitus (Orphanet:2596)
Myopathy, lactic acidosis, and sideroblastic anemia 1; MLASA1 (OMIM:600462)
Myopathy, lactic acidosis, and sideroblastic anemia 2; MLASA2 (OMIM:613561)
Navajo neurohepatopathy (Orphanet:255229)
Necrotizing encephalomyelopathy, subacute, of Leigh, adult (OMIM:161700)
Pontocerebellar hypoplasia type 6 (Orphanet:166073)
Severe X-linked mitochondrial encephalomyopathy (Orphanet:238329)