FRTS5
MCID: FNC066
MIFTS: 27
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Fanconi Renotubular Syndrome 5 (FRTS5)
Categories:
Bone diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Respiratory diseases
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MalaCards integrated aliases for Fanconi Renotubular Syndrome 5:
Characteristics:HPO:31
fanconi renotubular syndrome 5:
Inheritance autosomal recessive inheritance Onset and clinical course juvenile onset Classifications:
MalaCards categories:
Global: Genetic diseases Metabolic diseases Anatomical: Nephrological diseases Respiratory diseases Bone diseases |
UniProtKB/Swiss-Prot :
73
Fanconi renotubular syndrome 5: A form of Fanconi renotubular syndrome, a disease due to a generalized dysfunction of the proximal kidney tubule resulting in decreased solute and water reabsorption. Patients have polydipsia and polyuria with phosphaturia, glycosuria and aminoaciduria. They may develop hypophosphatemic rickets or osteomalacia, acidosis and a tendency toward dehydration. Some eventually develop renal insufficiency. FRTS5 is an autosomal recessive mitochondrial disorder characterized by proximal renotubular dysfunction from birth, followed by progressive kidney disease and pulmonary fibrosis.
MalaCards based summary : Fanconi Renotubular Syndrome 5, also known as fanconi renotubular syndrome, acadian variant, is related to mitochondrial metabolism disease and mitochondrial complex i deficiency, nuclear type 1. An important gene associated with Fanconi Renotubular Syndrome 5 is NDUFAF6 (NADH:Ubiquinone Oxidoreductase Complex Assembly Factor 6), and among its related pathways/superpathways is Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Affiliated tissues include kidney and lung, and related phenotypes are hypertension and genu valgum Disease Ontology : 12 A Fanconi syndrome that is characterized by proximal renotubular dysfunction from birth, followed by progressive kidney disease and pulmonary fibrosis and that has material basis in homozygous mutation in the NDUFAF6 gene on chromosome 8q22. OMIM® : 57 Fanconi renotubular syndrome-5 (FRTS5) is a mitochondrial disorder characterized by proximal renotubular dysfunction from birth, followed by progressive kidney disease and pulmonary fibrosis. It occurs only in individuals of Acadian descent (Crocker et al., 1997 and Hartmannova et al., 2016). For a discussion of genetic heterogeneity of Fanconi renotubular syndrome, see FRTS1 (134600). (618913) (Updated 05-Mar-2021) |
Diseases in the Fanconi Renotubular Syndrome 1 family:
Diseases related to Fanconi Renotubular Syndrome 5 via text searches within MalaCards or GeneCards Suite gene sharing:
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Human phenotypes related to Fanconi Renotubular Syndrome 5:31 (show all 13)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:618913 (Updated 05-Mar-2021) |
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MalaCards organs/tissues related to Fanconi Renotubular Syndrome 5:40
Kidney,
Lung
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Articles related to Fanconi Renotubular Syndrome 5:
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Search
GEO
for disease gene expression data for Fanconi Renotubular Syndrome 5.
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Pathways related to Fanconi Renotubular Syndrome 5 according to GeneCards Suite gene sharing:
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Cellular components related to Fanconi Renotubular Syndrome 5 according to GeneCards Suite gene sharing:
Biological processes related to Fanconi Renotubular Syndrome 5 according to GeneCards Suite gene sharing:
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