Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Hereditary metabolic kidney disease

Metabolic kidney disease is a wide group of disorders that are characterized of metabolic disturbances which result in kidney symptoms.

Systematic

Hereditary kidney diseases
Congenital abnormalities of the kidney and urinary tract
Cystic kidney disease
Disorders of tubular solute transport
Hereditary glomerular disease
Hereditary metabolic kidney disease
Fabry disease
GLA
Hereditary amyloidosis
ATTR amyloidosis
TTR
Amyloidosis, cerebroarterial
Amyloidosis, cerebroarterial, Britisch type
ITM2B
Amyloidosis, cerebroarterial, Danish type
ITM2B
Amyloidosis, cerebroarterial, Dutch type
APP
Amyloidosis, cerebroarterial, Icelandic type
CST3
Cryopyrin-associated periodic syndrome
CINCA syndrome
NLRP3
Familial cold autoinflammatory syndrome 1
NLRP3
Muckle-Wells syndrome
NLRP3
Familial Mediterranean fever
MEFV
SAA1
TNFRSF1A
Finnish type Amyloidosis
GSN
Hereditary renal amyloidosis
APOA1
Apolipoprotein A-2 amyloidosis
APOA2
B2M
CST3
FGA
LYZ
Hyperoxaluria
Hyperoxaluria type 1
AGXT
Hyperoxaluria type 2
GRHPR
Hyperoxaluria type 3
HOGA1
Lysinuric protein intolerance
SLC7A7
Hereditary renal tumors
Interstitial kidney disease
Kidney disease appearing as endocrinological disorders
Thrombotic microangiopathies
Urolithiasis

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157.

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158.

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159.

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160.

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161.

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162.

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163.

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164.

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165.

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166.

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167.

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168.

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170.

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171.

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174.

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181.

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186.

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187.

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188.

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189.

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190.

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191.

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192.

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193.

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194.

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195.

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196.

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197.

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198.

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199.

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277.

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278.

None (1993) Primary hyperoxaluria type 1 and peroxisome-to-mitochondrion mistargeting of alanine:glyoxylate aminotransferase.

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279.

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Parsons H et al. (1996) Immune complex disease consistent with systemic lupus erythematosus in a patient with lysinuric protein intolerance.

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Lauteala T et al. (1997) Lysinuric protein intolerance (LPI) gene maps to the long arm of chromosome 14.

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283.

Kemper MJ et al. (1997) Primary hyperoxaluria type 2.

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284.

None (1998) Preemptive liver transplantation from a living related donor for primary hyperoxaluria type I.

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