FRTS5
MCID: FNC066
MIFTS: 10

Fanconi Renotubular Syndrome 5 (FRTS5)

Categories: Bone diseases, Genetic diseases, Nephrological diseases

Aliases & Classifications for Fanconi Renotubular Syndrome 5

MalaCards integrated aliases for Fanconi Renotubular Syndrome 5:

Name: Fanconi Renotubular Syndrome 5 56
Fanconi Renotubular Syndrome, Acadian Variant 56
Frts5 56

Classifications:



External Ids:

OMIM 56 618913
OMIM Phenotypic Series 56 PS134600

Summaries for Fanconi Renotubular Syndrome 5

OMIM : 56 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)

MalaCards based summary : Fanconi Renotubular Syndrome 5, is also known as fanconi renotubular syndrome, acadian variant. An important gene associated with Fanconi Renotubular Syndrome 5 is NDUFAF6 (NADH:Ubiquinone Oxidoreductase Complex Assembly Factor 6). Affiliated tissues include kidney.

Related Diseases for Fanconi Renotubular Syndrome 5

Symptoms & Phenotypes for Fanconi Renotubular Syndrome 5

Clinical features from OMIM:

618913

Drugs & Therapeutics for Fanconi Renotubular Syndrome 5

Search Clinical Trials , NIH Clinical Center for Fanconi Renotubular Syndrome 5

Genetic Tests for Fanconi Renotubular Syndrome 5

Anatomical Context for Fanconi Renotubular Syndrome 5

MalaCards organs/tissues related to Fanconi Renotubular Syndrome 5:

40
Kidney

Publications for Fanconi Renotubular Syndrome 5

Articles related to Fanconi Renotubular Syndrome 5:

# Title Authors PMID Year
1
Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6. 56
27466185 2016
2
An Acadian variant of Fanconi syndrome. 56
17690917 2007

Variations for Fanconi Renotubular Syndrome 5

Expression for Fanconi Renotubular Syndrome 5

Search GEO for disease gene expression data for Fanconi Renotubular Syndrome 5.

Pathways for Fanconi Renotubular Syndrome 5

GO Terms for Fanconi Renotubular Syndrome 5

Sources for Fanconi Renotubular Syndrome 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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