FRTS5
MCID: FNC066
MIFTS: 27

Fanconi Renotubular Syndrome 5 (FRTS5)

Categories: Bone diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Respiratory diseases

Aliases & Classifications for Fanconi Renotubular Syndrome 5

MalaCards integrated aliases for Fanconi Renotubular Syndrome 5:

Name: Fanconi Renotubular Syndrome 5 57 12 73 29 6 15
Fanconi Renotubular Syndrome, Acadian Variant 57 73
Frts5 57 73
Acadian-Variant Fanconi Syndrome 12

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive


HPO:

31
fanconi renotubular syndrome 5:
Inheritance autosomal recessive inheritance
Onset and clinical course juvenile onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0080761
OMIM® 57 618913
OMIM Phenotypic Series 57 PS134600
MeSH 44 D005198

Summaries for Fanconi Renotubular Syndrome 5

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)

Related Diseases for Fanconi Renotubular Syndrome 5

Diseases in the Fanconi Renotubular Syndrome 1 family:

Fanconi Renotubular Syndrome 2 Fanconi Renotubular Syndrome 3
Fanconi Renotubular Syndrome 5 Fanconi Renotubular Syndrome 4

Diseases related to Fanconi Renotubular Syndrome 5 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 mitochondrial metabolism disease 9.6 NDUFAF6 NDUFA1
2 mitochondrial complex i deficiency, nuclear type 1 9.6 NDUFAF6 NDUFA1
3 leigh syndrome 9.5 NDUFAF6 NDUFA1

Symptoms & Phenotypes for Fanconi Renotubular Syndrome 5

Human phenotypes related to Fanconi Renotubular Syndrome 5:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 hypertension 31 very rare (1%) HP:0000822
2 genu valgum 31 very rare (1%) HP:0002857
3 emphysema 31 very rare (1%) HP:0002097
4 lung adenocarcinoma 31 very rare (1%) HP:0030078
5 stage 5 chronic kidney disease 31 very rare (1%) HP:0003774
6 tubulointerstitial fibrosis 31 very rare (1%) HP:0005576
7 hypophosphatemic rickets 31 very rare (1%) HP:0004912
8 proteinuria 31 HP:0000093
9 aminoaciduria 31 HP:0003355
10 pulmonary fibrosis 31 HP:0002206
11 glycosuria 31 HP:0003076
12 hyperchloremic metabolic acidosis 31 HP:0004918
13 decreased dlco 31 HP:0045051

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Growth Height:
short stature

Skeletal Limbs:
genu valgum

Respiratory Lung:
pulmonary fibrosis chronic interstitial fibrosis emphysema

Neoplasia:
lung adenocarcinoma (1 patient)

Laboratory Abnormalities:
hypophosphatemia
aminoaciduria
glucosuria
hypochloremic metabolic acidosis

Skeletal:
hypophosphatemic rickets

Genitourinary Kidneys:
proximal renal tubular dysfunction end stage renal disease

Clinical features from OMIM®:

618913 (Updated 05-Mar-2021)

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

Genetic tests related to Fanconi Renotubular Syndrome 5:

# Genetic test Affiliating Genes
1 Fanconi Renotubular Syndrome 5 29 NDUFAF6

Anatomical Context for Fanconi Renotubular Syndrome 5

MalaCards organs/tissues related to Fanconi Renotubular Syndrome 5:

40
Kidney, Lung

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. 57 6
27466185 2016
2
An Acadian variant of Fanconi syndrome. 57
17690917 2007
3
Evolution, structure and membrane association of NDUFAF6, an assembly factor for NADH:ubiquinone oxidoreductase (Complex I). 61
28476317 2017

Variations for Fanconi Renotubular Syndrome 5

ClinVar genetic disease variations for Fanconi Renotubular Syndrome 5:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NDUFAF6 NM_152416.4(NDUFAF6):c.298-768T>C SNV Pathogenic 917900 8:96046914-96046914 8:95034686-95034686

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

Cellular components related to Fanconi Renotubular Syndrome 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 8.96 NDUFAF6 NDUFA1
2 mitochondrial inner membrane GO:0005743 8.62 NDUFAF6 NDUFA1

Biological processes related to Fanconi Renotubular Syndrome 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial respiratory chain complex I assembly GO:0032981 8.62 NDUFAF6 NDUFA1

Sources for Fanconi Renotubular Syndrome 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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