Details of Disease

General Information of Disease (ID: DISR144Y)

Disease Name Primary Fanconi syndrome
Synonyms Fanconi renotubular syndrome 1; primary Fanconi renotubular syndrome; FRTS1
Definition
A condition in which the kidneys do not absorb certain substances into the body. These substances, such as cysteine, fructose, galactose, or glycogen, are lost in the urine. Fanconi syndrome is thought to be caused by genetic and environmental factors, and it may be diagnosed at any age. Symptoms of Fanconi syndrome include increased urine production (which may cause dehydration), weakness, and abnormalities of the bones.
Disease Hierarchy
DISPC514: Inherited Fanconi renotubular syndrome
DISR144Y: Primary Fanconi syndrome
Disease Identifiers
MONDO ID
MONDO_0007600
MESH ID
D005198
UMLS CUI
C1857395
MedGen ID
341765
Orphanet ID
3337
SNOMED CT ID
236466005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
CTNS TT1W2ZS Strong Altered Expression [1]
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This Disease Is Related to 2 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SLC34A1 DT42EWA Supportive Autosomal dominant [2]
SLC2A2 DTUJPOL Strong Biomarker [3]
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This Disease Is Related to 6 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
EHHADH OTBAAHL5 Supportive Autosomal dominant [4]
GATM OTIJ4Z11 Supportive Autosomal dominant [5]
NDUFAF6 OTRJMIGT Supportive Autosomal dominant [6]
SLC34A1 OTNOMLU2 Supportive Autosomal dominant [2]
GPX3 OT6PK94R Strong Biomarker [7]
OCRL OTQ3L42N Strong Genetic Variation [8]
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⏷ Show the Full List of 6 DOT(s)

References

1 Intrinsic Bone Defects in Cystinotic Mice.Am J Pathol. 2019 May;189(5):1053-1064. doi: 10.1016/j.ajpath.2019.01.015. Epub 2019 Feb 19.
2 A loss-of-function mutation in NaPi-IIa and renal Fanconi's syndrome. N Engl J Med. 2010 Mar 25;362(12):1102-9. doi: 10.1056/NEJMoa0905647.
3 The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome. Hum Genet. 2002 Jan;110(1):21-9. doi: 10.1007/s00439-001-0638-6. Epub 2001 Nov 17.
4 Mistargeting of peroxisomal EHHADH and inherited renal Fanconi's syndrome. N Engl J Med. 2014 Jan 9;370(2):129-38. doi: 10.1056/NEJMoa1307581.
5 Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure. J Am Soc Nephrol. 2018 Jul;29(7):1849-1858. doi: 10.1681/ASN.2017111179. Epub 2018 Apr 13.
6 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. Hum Mol Genet. 2016 Sep 15;25(18):4062-4079. doi: 10.1093/hmg/ddw245. Epub 2016 Jul 27.
7 Plasma glutathione peroxidase and its relationship to renal proximal tubule function. Mol Genet Metab. 1998 Nov;65(3):238-45. doi: 10.1006/mgme.1998.2760.
8 A role for OCRL in glomerular function and disease.Pediatr Nephrol. 2020 Apr;35(4):641-648. doi: 10.1007/s00467-019-04317-4. Epub 2019 Dec 6.