Syndrome | Gene | Protein | Function | Transmission | Age at onset of proteinuria | Histology | Associated features |
Denys-Drash syndrome | WT1 | Wilms tumor protein | Podocyte development | AD | 0 to 10 years | DMS | Male pseudohermaphroditism, Wilms tumor |
Frasier syndrome | WT1 | Wilms tumor protein | Podocyte development | AD | 1 to 30 years | FSGS | Male pseudohermaphroditism, gonadoblastoma |
Pierson syndrome | LAMB2 | Laminin beta-2 | Links GBM to podocyte cytoskeleton | AR | 0 to 6 years | DMS | Microcoria, abnormal lens |
Schimke syndrome | SMARCAL1 | SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A-like protein 1 | Chromatin bundling and gene transcription | AR | 2 to 12 years | FSGS | Bone dysplasia, immune deficiency, ischemic cerebral lesions |
Nail-patella syndrome | LMX1B | LIM homeodomain transcription factor 1, beta | Podocyte and GBM development | AD | 10 to 70 years | FSGS | Hypoplastic nails and patellae, iliac horns |
Charcot-Marie-Tooth disease | INF2 | Inverted formin 2 | Actin regulation | AD | 10 to 45 years | FSGS | Neuropathy, deafness |
Galloway-Mowat syndrome | WDR73 | WD40 repeat-containing protein | Unknown | AR | 5 to 15 years | FSGS | Microcephaly, intellectual disability, hiatal hernia, optic atrophy |
Mitochondrial respiratory-chain disease | MTTL1 | Mitochondrial tRNA leucine 1 | Mitochondrial tRNA | Maternal | 5 to 50 years | FSGS | MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like symptoms), diabetes mellitus, deafness |
COQ2 | Polyprenyltransferase | Coenzyme Q10 biosynthesis | AR | 0 to 2 years | FSGS | Encephalomyopathy, hypotonia, seizures, lactate acidosis | |
COQ6 | Ubiquinone biosynthesis monooxygenase COQ6 | Coenzyme Q10 biosynthesis | AR | 0 to 6 years | FSGS | Sensorineural deafness | |
PDSS2 | Decaprenyl diphosphate synthase, subunit 2 | Coenzyme Q10 biosynthesis | AR | 0 to 2 years | FSGS | Encephalomyopathy, hypotonia, seizures, lactate acidosis |
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