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MCID: MTC137
MIFTS: 21
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Mitochondrial Complex V Deficiency, Nuclear Type 4
Categories:
Genetic diseases, Metabolic diseases
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MalaCards integrated aliases for Mitochondrial Complex V Deficiency, Nuclear Type 4:
Characteristics:OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
onset at birth death in first weeks of life two sibs have been reported (last curated may 2013) HPO:32
mitochondrial complex v deficiency, nuclear type 4:
Onset and clinical course congenital onset Inheritance autosomal recessive inheritance Classifications:
ICD10:
33
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UniProtKB/Swiss-Prot
:
75
Mitochondrial complex V deficiency, nuclear 4: A mitochondrial disorder with heterogeneous clinical manifestations including dysmorphic features, psychomotor retardation, hypotonia, growth retardation, cardiomyopathy, enlarged liver, hypoplastic kidneys and elevated lactate levels in urine, plasma and cerebrospinal fluid.
MalaCards based summary : Mitochondrial Complex V Deficiency, Nuclear Type 4, is also known as mc5dn4, and has symptoms including apnea An important gene associated with Mitochondrial Complex V Deficiency, Nuclear Type 4 is ATP5F1A (ATP Synthase F1 Subunit Alpha). Affiliated tissues include liver, kidney and pons, and related phenotypes are nystagmus and irritability Disease Ontology : 12 A mitochondrial complex V (ATP synthase) deficiency that has material basis in mutation in the ATP5A1 gene on chromosome 18q.
Description from OMIM:
615228
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:615228Human phenotypes related to Mitochondrial Complex V Deficiency, Nuclear Type 4:32 (show all 7)
UMLS symptoms related to Mitochondrial Complex V Deficiency, Nuclear Type 4:apnea |
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MalaCards organs/tissues related to Mitochondrial Complex V Deficiency, Nuclear Type 4:41
Liver,
Kidney,
Pons,
Cerebellum
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Genes related to Mitochondrial Complex V Deficiency, Nuclear Type 4 (1 elite genes):
- Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Mitochondrial Complex V Deficiency, Nuclear Type 4:75
ClinVar genetic disease variations for Mitochondrial Complex V Deficiency, Nuclear Type 4:6
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Search
GEO
for disease gene expression data for Mitochondrial Complex V Deficiency, Nuclear Type 4.
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